2022
Report on the 2022 CMTC Conference by: Johanna Shafer
Ocular Findings in CMTC (video from 2020 Conference)
Presented by Dr. Elias Traboulsi, MD, M.Ed.
Management of Leg Length Inequality in Children (video from 2020 Conference)
Presented by Dr. Ryan Goodwin, M.D., M.B.A.
Defining CMTC
Presented by Dr. Joan Tamburro, D.O.
What is CMTC? CMTC stands for Cutis Marmorata Telangectatica Congenita. It falls in the category of symmatic disorders — disorders that are similar but look differently with each individual.
CMTC was first documented in 1922 by Van Lohnizen.
Cutis Marmorata, the purple marbling of the skin, is normal in babies, especially when cold. Telangectatica is spider veining (superficial dilated veins). Because the color of the skin comes from pigment and blood vessels, the skin is thinner where the purple is darker. Congenita means that the condition is noticeable at birth.
In Isolated CMTC, there are no other features than Cutis Marmorata and the lesions fade.
Several clinical findings define Classic CMTC: CMTC is congenital, meaning present at or shortly after birth, the skin, temperature disregulation, body asymmetry, eye findings and social interactions are all effected by CMTC. The findings with the skin are permanent Cutis Marmorata, linear atrophy, capillary malformation, superficial dilated veins, and dermal melanocytosis.
Another characteristic of classic CMTC is that 37.7% of patients will have body asymmetry. CMTC is most commonly found on the legs. It is rarely found on the face, so the probability of localized lesions on the face is 1 to 7—very rare. Because the skin and blood vessels are affected, temperature dysregulation effects either the effected limb or the whole body.
CMTC is an ultra-rare vascular malformation: there have been fewer than 500 reported cases of CMTC. Researchers are looking for a gene to explain the occurrence of CMTC; one such gene of interest is possibly GNA 11 which is associated with other Vascular Malformations.
Current treatments for CMTC include ultrasound or laser to treat painful ulcers and physical therapy to assist with weakness.
CMTC must remain surveilled by a variety of medical professionals. A full skin examination should include documentation of lesions. The frequency of further examinations depends on the patient’s severity and skin atrophy, with close examination for ulceration. Ulcers may be cleaned ultrasonically in the clinic, as well. Temperature dysregulation also needs to be monitored and address on a case by case basis.
The Musculoskeletal structure should be annually examined until the patient has fully matured. Limbs are assessed for asymmetry, weakness and pain. (Refer back to Dr. Goodwin’s video)
Eyes should be examined every six months, then annually after four years of age for any ocular pressure and irregularities. (Refer back to Dr. Traboulsi’s video)
The patient’s psychological well-being should be monitored as well for coping skills at the variety of developmental stages.
Resources
Psychology and Rare Diagnosis
More research on CMTC could occur if more patients participate in available research studies. A skin biopsy can be done on the affected tissue which can provide genetic information for the researchers to figure out the genetic composition of CMTC.
Genetics
Presented by Dr. Rocio Moran, M.D.
Vascular malformations develop due to errors in blood vessel formation.
There are two types of mutations, inherited (germ-line) and somatic. Somatic mutations occur in a single cell during embryogenesis and usually effects only one area of the body because the mutation is not present throughout the entire embryo. Somatic mutations are usually not passed on in families, but can be, if mutation is present in the egg or sperm.
With the information currently available, geneticists speculate CMTC results from a somatic mutation.
Resource: Frontiers in Pediatrics, Borst et al, 2020
Psychosocial Implications for CMTC and Other Dermatologic Malformations
Presented by Dr. Taylor Stephens, Ph.D.
The psychosocial effects of CMTC parallel other patients with chronic and rare diseases. Parents may grieve upon hearing their child has a rare disorder or vascular anomaly, but consider what can be gained by accepting this is a part of your child.
The relationship between health and emotions is bidirectional—your health affects your emotions, and you emotions effect your health.
When considering therapy, consider not only physical therapy, but also occupational therapy.
Parenting and family quality of life benefit through communication. Have open and honest conversations with your child. Answer questions and be willing to admit what you do not know. Listen! Have compassion, not necessarily sympathy for your child. Encourage emotional expression.
Be there for them.
Imaging Basics (video for 2022 Conference)
Presented by Dr. Alexander Paratore, D.O.
2020
Welcome to 2020, where everyone’s life has changed from the norm! And this was no different for the International CMTC Alliance Conference & Clinic this year. As soon as guidance started to roll out on the state and federal levels, the Board of Directors began discussing our July conference. It was important to us to remain focused on meeting the needs of our members, while in fact taking every precaution to keep them safe. Communication between the board and the planning team at Cleveland Clinic lead to the decision to hold a virtual conference and clinic. Yes clinic!!
Soon after opening registration, families were actively registering for the weekend. We are excited to announce that we had registrations from around the world. In addition to numerous families from the USA, we had registrants from Canada, Australia, and Kenya! Quickly after registrations were submitted, our elite team of medical advisors began reviewing each case. By the time each physician completed their individual reviews of the submitted intake forms, there had been 135 free evaluations completed. The CMTC Alliance Medical Advisory Team consists of the following disciplines: Dermatology, Genetics, Ophthalmology, Orthopedics, Interventional Radiology and Psychology.
The International CMTC Alliance Conference & Clinic was held virtually on July 18th & 19th. Creating a schedule for the weekend was difficult to say the least, as we worked with multiple time zones. The virtual clinic appointments started early on the east coast here in the US, but for those in Australia it was already 10 PM that night. The virtual clinic appointments lasted for nearly 9 hours. Our Zoom meeting on Sunday was at 6 pm EST, which caused those in Kenya to participate at 1 am their time on Monday while Australia joined us at 8 am their time on Monday.
CMTC Alliance members have access to all lectures given by this year’s presenting physicians.
Dr. Joan Tamburro Section Head of Pediatric Dermatology at Cleveland Clinic Children’s.
Her presentation gave an overview of health literacy, classifications of vascular malformations, recent literature and what the future holds for those diagnosed with vascular malformations.
Alfred Blaschko described and proposed the cause of very curvilinear lines on the body creating cutaneous patterns. There is a good and bad to cutaneous patterns. The grouping of skin patterns aids a physician’s ability to group patients with similar health concerns providing a diagnosis, while also alerting physicians to other concerns. This is good. However, it is difficult for individuals to see anything exactly the same, and this can be bad. If the pattern is not significant enough to determine a diagnosis, it can ultimately lead to confusion when trying to determine a diagnosis.
Dr. Tamburro clarified the difference of confluent and reticulated skin patterns, and what diagnoses these are related to. The reticulated pattern of CMTC does not resolve but can lighten as the child ages. This is visually similar to physiologic cutis marmorata, what you often see in an infant, which changes as the body temperature changes in the newborn infant and resolves completely within a few months, unlike CMTC.
She stated that we are getting closer to identifying the gene mutation that causes CMTC, nevertheless research needs to continue to confirm the gene. Recent literature agrees with the criteria for CMTC, although they have proposed that body asymmetry should be added to the criteria. Most often a limb is smaller and rarely is it larger. In recent research, a small number of patients are showing mutation of a specific gene, researchers are continuing to strive for clarification. Dr. Tamburro identifies this gene in her presentation and stresses that it is only theory and is not confirmed. She also encourages long-term follow up for vascular malformations. Knowing what occurs with patients as they become adults is important as we continue to care for those who are younger.
As it is believed that CMTC is a mosaic mutation, skin biopsies are used to perform genetic testing and research. Dr. Tamburro walked us through the process of how a biopsy is taken. A topical numbing cream is applied prior to administering an intralesional (introduced into or performed within a lesion or CMTC stain/marking) lidocaine for complete local anesthesia. As the procedure is performed the patient will feel pressure but nothing sharp or painful. Most of the time, the 5 to 10-minute procedure is performed in the office with the child tolerating it well. This procedure may also require sutures which are left in 10-12 days.
Dr. Elias Traboulsi presented on ocular findings in CMTC.
When the eyelids have vascular malformations, it may indicate the eye has similar anomalous blood vessels. Dr. Traboulsi described how glaucoma (elevated intraocular pressure) is a possible ocular complication in CMTC. He stated that technically, glaucoma only occurs when the optic nerve is damaged. In some patients this is congenital. A distended eye with a hazy cornea are the characteristics in an infant due to the sclera and cornea being thin. In 2007 only 15 cases of congenital glaucoma were reported in CMTC cases. Of course, these numbers have increased slightly since that publication, but it is still not considered a common finding.
Here the left eye has increased intraocular pressure (IOP) damaging some of the optic nerve fibers. Retinal blood vessels can show some changes in CMTC, although a marbleized fundus does not indicate any damage or pathology, just part of the appearance of the blood vessels in a patient with CMTC.
In a 2019 Ophthalmology Retina Journal, a study of 9 cases from several centers revealed peripheral retinal avascularity (the blood vessels extending from the back of the eye do not reach the front of the eye) in 6 of the 9 patients. With avascularity new blood vessels form and can ooze causing harm. These are considered uncommon complications in CMTC. Only 2 of these patients had glaucoma.
Dr. Traboulsi’s recommendations for eye care includes eye examinations within the first 2 months following birth. Check for eye pressure, examine the retina for peripheral avascularity or neovascularization and if present laser treatment is recommended depending on the stage of the complication. If periocular or choroidal hemangiomas are found, he recommends checking IOP every 3-4 months for the first few years, then reducing frequency to every 6 months if appropriate. If no hemangiomas are found, yearly complete eye exams with measurements of IOP is sufficient
Dr. Ryan Goodwin educated on the management of limb length inequality in children. His presentation covered the causes and consequences, clinical evaluation, and treatment options. There are multiple congenital causes of leg length discrepancies (LLD). It is best practice to use the true leg length rather than apparent leg length when measurements are taken. With a true leg length, the physician is measuring from identifiable fixed points of a specific bone, the measurement from the belly button to the ankle gives the apparent leg length. Using the apparent leg length can be changed significantly by the patient’s foot positioning. Scoliosis can also give an apparent LLD.
LLD can cause many consequences involving gait, spine, hips as well as psychological consequences. If a LLD is less than 2.5 cm it is less likely the patient will experience backpain, as opposed to the patient with a larger LLD. Scoliosis that can occur with a LLD and is typically noted as a more flexible curve and not a structural curve that would require treatment. Dr. Goodwin spoke about how the femoral head on the longer leg becomes uncovered creating hip dysplasia concentrating stress on the hip. It is unknown if LLD increases the risk of degenerative joint disease.
A clinical evaluation of LLD is to determine the cause, measure the discrepancy, predict the discrepancy at maturity and finally discuss treatment options. Radiographs are an important part of the exam. A view of the left hand and wrist is used to identify bone age, an important step in the orthopedic assessment and predicting discrepancy at maturity. Leg length measurements can be achieved through various methods. Based on a patient’s skeletal age after a bone film has been taken, they can predict how much growth is remaining in any given extremity based on when a patient might stop growing.
Goals of treatment is to acquire equal leg lengths, or at the very least within 2 cm. In addition, joints should be at the same level and parallel to the floor. Treatment options include lengthening the shorter leg, whether it is with a shoe lift, distraction osteogenesis (lengthening a bone) or trans-iliac lengthening (creating the lengthening in the pelvis). Shortening the longer leg is also an option by the means of epiphyseal stapling and epiphyseodeis to stop the growth plate, or femoral shortening. These options are for those who are predicted to have a 2-5 cm discrepancy.
When looking at treatment options for those with a 5-20 cm, or >20 cm, discrepancy the plan is much more invasive and often results in amputation. Also, with these patient’s joint instability becomes a concern. LLD is common and it is important to understand that treatment options do exist and are individual for each patient based on their level of function, leg length differences, and their individual needs.
Dr. Cheryl Bayart presented on laser treatment of CMTC. She explained lasers and how they work, why and how they can be used to treat CMTC, which ones are most helpful and the side effects that can occur from laser treatments. She reviewed the case of a 4-year-old who suffered from painful ulcerations in the areas of CMTC and remained persistent despite meticulous wound care.
INSERT PHOTO Lasers are monochromatic, meaning they are the same wavelength. They must be collimated (traveling in the same direction) and they must be coherent (in sync). Lasers work using selective thermolysis. The light is absorbed by a targeted skin structure, in the case of CMTC this would be blood vessels. The absorbed light becomes heat that destroys the targeted skin structure.
Dr. Bayart stated, the ideal laser settings allow the user to be like a sharpshooter, enabling them to hit specific skin structures and not destroying the skin like an atomic bomb. Your physician needs to use the correct laser, one that is strong enough to damage the target tissue yet minimize damage to surrounding skin structures.
CMTC affected areas of the body are genetically programmed to be different, resulting in faulty blood vessels in the skin. When considering laser as a treatment for symptoms of CMTC, the IPL or intense pulsed light is best. This is technically not a laser as it is a high intensity flashlamp, the beams are different wavelengths and is not in sync. The IPL penetrates deeper and has a longer pulse duration permitting the user to treat larger vascular structures. For this reason, there is less bruising following treatment.
There can of course be side effects. There is pain, bruising, and ulceration can be caused and is therefore not recommend for someone who is asymptomatic. Scarring can occur as well. It is important to understand that benefits must outweigh the risk. If a patient is seeking treatment for ulcerations, not treating them would cause more scarring than the laser itself. Light or dark spots can be left behind for a while, most common in patients who have a lot of sun exposure after treatment.
The goals of laser treatment for CMTC is focused on symptom control – reducing pain and ulcerations. Improved appearance can occur but is not an indicator for the treatment. Dr. Bayart rationalized how lasers do not have to be scary. The whole family can be in the room with proper eye coverings, the patient can listen to music during treatment. Sedation is used for those who cannot tolerate treatment while awake.
What will happen in 2021? That remains to be seen. But it is our promise to bring you another educational conference and clinic even if we must go virtual again. Next year’s International CMTC Alliance Conference & Clinic is planned be July 16th & 17th 2021 at the Cleveland Clinic Children’s Outpatient Facility. All physicians’ lectures from the 2020 conference are uploaded to our members only area of this website. If you are currently a member, login to view each presentation. If you are not, please consider becoming a member to have access to these informative presentations. Also, join us on Facebook, Twitter, and Instagram to stay connected and notified of organization related events, in addition to evidence-based medical information from our Medical Advisory Team.
See you next year ~ Rebecca “Bec” Gallis RN – President
2018
The 2018 Global CMTC-OVM US Annual Conference, was kicked off on Friday July 20th. The Board of Directors once again hosted a pizza/pool party at the conference hotel. This has become a great tradition. It not only gives the kids a chance to play in the pool, but also gives parents the opportunity to share experiences and get to know one another.
The conference began bright and early on July 21st. We were located at the Embassy Suites O’Hare Rosemont. It is always exciting to see where everyone is located around the world. We had 10 states and 2 countries represented this year. Check-in began at 8:00am with families receiving their conference booklets, name tags, and HIPAA forms. We continued with our professionally printed booklets which included, the conference agenda, bios of the board of directors, physicians, and guest speaker – other possible diagnoses – finances – fundraising – family engagement – awareness – advocacy – and of course space for note taking.
President Rebecca “Bec” Gallis started the conference with an overview of the organization. Her presentation highlighted our motto “We’re all a little rare; but, when we fall into mutual rareness…We call it a FAMILY.” Everyone was given the opportunity to introduce themselves, sharing where they were from and who was attending the conference. Bec’s presentation defined how we became a formal non-profit organization, membership demographics around the world, other organizations where CMTC-OVM US holds membership, what conferences we will be attending in 2018, and our annual Day of Awareness/Lights of Hope. Multiple things were covered in her presentation regarding the new website. Such as: why our disclaimer exists, our elite Medical Advisory Team, Vascular Anomalies Clinics (VAC) and where they are located, the introduction of our new initiative – Global Delegates, our brochure, our world map, and much much more.
Our Treasurer Tabatha Broussard shared detailed financial information. She again explained how the operating capital comes directly from paid memberships, fundraisers, and donations from the public. Remember, we do not receive any government subsidies. Tabatha shared how the conference is our greatest expenditure. As per our bylaws, if you are a member in good-standing, you are eligible to request a report of our financial status if you wish. Her presentation explained how our involvement in other conferences is greatly covered by travel scholarships offered by each hosting organization, and that the remaining expenses are covered by the CMTC-OVM US president, NOT the organization. To further awareness and support of the organization, our famous color changing t-shirts and bracelets were available for purchase.
Dr. Joan Tamburro, leading dermatological specialist and member of the VAC team at the Cleveland Clinic, presented a dynamic lecture on vascular malformations. Dr. Tamburro believes it can be difficult getting the correct diagnosis of CMTC. She reviewed health literacy, and according to health.gov, health literacy is defined as the degree to which individuals have the capacity to obtain, process, and understand basic health information and services needed to make appropriate health decision. Health literacy is dependent on individual and systemic factors: Communication skills of lay persons and professionals. It becomes difficulty and confusing when one individual, lay person or professional, refers to a birthmark as a port-wine stain, and another introduces the same marking with another name. She also feels that education is crucial during an appointment. Parents/patients have an idea of what they want to cover during an appointment. At the same time, physicians have information they want to cover within that time frame. Sadly, appointments can be limited in time, leading to less educational material being covered. Therefore, it is important to look beyond the office appointment. Cleveland Clinic, as well as other facilities across the country and around the world, have access through MyChart to not only view your medical chart, but communicate via email with your physician as well as participate in an e-visit. This opens the opportunity to present those questions that were not asked during your appointment, or came to you following the appointment. She shared how cumulative health outcomes for rare diagnoses have been greatly impacted, through organizations such as CMTC-OVM US and other rare disease organization. Dr. Tamburro stated that in the 90’s other health concerns were being reported as linked to CMTC. These can include: central nervous systems, cardiac, pulmonary, ophthalmologist, orthopedic, urologic, and neonatal lupus can often be called CMTC. She believes CMTC has fallen on the list at ISSVA (International Society for the Study of Vascular Anomalies) but now is the time for CMTC to begin to rise.
Dr. Rocio Moran, Division Director of Genetics and Genomic, and member of the VAC team at the Cleveland Clinic, continued with an empowering presentation of genetics and vascular malformations. It is believed that CMTC is a somatic mutation related to an asymmetric nature. A somatic mutation occurs in the embryo and are only present in the affected area. A germ-line mutation is present in the egg or sperm, leading to the abnormality being present in the entire person. Studying genetics in vascular malformations, can be challenging. Dr. Moran explained that this is due to variability of phenotypes, overlapping phenotypes, inconsistencies in classifications, and obtaining tissue for genetic testing. Clinical diagnoses provide a diagnostic and treatment pathway, that can often change over time. Which explains why some patient’s diagnoses change over time. Dr. Moran continued to explain that molecular diagnosis confirms clinical suspicion; however, it does not explain the clinical variability. While genetic testing is informative, it does not always override a clinical diagnosis, because it has been found that genetic testing does not exclude a diagnosis. Dr. Moran’s “Take Home Points” included: 1. Multidisciplinary evaluations are key (vascular anomalies clinics), 2. Re-assessment of the diagnosis, testing and evaluations at regular intervals such as during our annual conference, 3. Evaluations at specialty centers (vascular anomalies clinics), 4. Consideration of participation in research.
We had a great surprise visit by a physician from Milwaukee, Dr. Beth Drolet from the Children’s Hospital of Wisconsin, where she established a Birthmarks and Vascular Anomalies Center. She is a Professor of Dermatology and Pediatrics and Vice Chair of the Department of Dermatology at the Medical College of Wisconsin. Dr. Drolet’s research team has established and maintained international registries and bio-banks for patients with rare vascular anomalies. Her research focuses on genetics and causes of birthmarks. She believes that each child with a vascular birthmark looks differently, due to what gene is affected, when it happened during development, and of course what type of cells are affected; such as, a change in blood vessel cells leads to a birthmark, while changes in bone cells leads to over or under growth. Dr. Drolet’s study is ongoing, and she invites those interested to join. It involves collecting biopsies from all vascular birthmark types, regardless of ones diagnosis. Through sequencing, they are working to identify various diagnoses. Due to this research, it’s important to think the possibilities of discovering CMTC’s gene mutation, could one day become a reality. We will post the information to participate in Dr. Drolet’s study here on the website, as well as on our Facebook Page.
During lunch, the doctors took advantage of our conference suite where they reviewed intake forms and discussed the upcoming clinical evaluations that resumed promptly following lunch. These evaluations also took place in the conference suite, where the assessments occurred in the private bedroom and the follow-up meeting in the living room area with Brandy Lockridge MA, MS and secretary for the Global CMTC-OVM US Organization. There were clinicals on Friday evening, before lunch, and several following lunch.
As the clinical evaluations were underway, presentations continued in the general session. Dr. Seth Kastle, family engagement coordinator, was the moderator for the session titled Parent to Parent. He presented the parent panel, Tabatha Broussard, Julia Kastle, and Rebecca Gallis, with questions related to how they have managed their journey through the rare disease world. Questions such as:
- Why do you think it is important to pursue continued care and consultation after an initial diagnosis?
- Often times children with CMTC see multiple doctors. What system have you found to be the most effective to manage this?
- Why is raising awareness important to you and your child?
- How often do you communicate with your child’s medical team?
- If there was one thing you wish you would have known in the beginning about CMTC or other vascular malformations, what would it have been?
This session was helpful for other parents to understand and realize, each case can be truly different, although in many ways we are all traveling the same paths.
Dr. Linda Rozell-Shannon President and Founder of the Vascular Birthmarks Foundation was with us this year and shared two presentations. The first one titled, The Need for Uniform Standards for Vascular Birthmarks, was on point. This is a difficult field of medicine, and can lead to inconsistent diagnoses and treatment options. One of the leading reasons for this is inconsistent nomenclature. Dr. Tamburro and Dr. Moran have stated this as well. This can bring an improper diagnosis, in addition to misdirected research. Based on histopathology, clinical course, and treatment, ISSVA supports a classification system to resolve these issues. Dr. Linda’s second presentation, Psychosocial Trauma in Families Affected by a Vascular Birthmark, highlighted the issue of bullying. According to the National Statistics on Bullying, 1 in 5 school-aged children report they have been or are being bullied. 33% stated it occurs once or twice a month, and 50% state that bullying stops when a peer intervenes. She continued to share that parents of children with vascular birthmarks also report having been bullied. “Ignorance is fertilizer for bullying” she stated. It is important to educate people – family, friends, classmates, teachers – establish a support network at school, home, and even work. Although it is beneficial to teach confidence, this must be done with caution. Sadly, when your guard is down, you are at risk.
Between Dr. Linda’s two presentations, Bec presented on Nursing Diagnoses. A medical diagnosis is given by a physician, and never by a nurse; a nursing diagnosis is by a nurse and not a physician. A Nursing diagnosis is defined as a clinical judgment about individual, family, or community experiences/responses to actual or potential health problems/life processes. It provides the basis for selection of nursing interventions to achieve outcomes for which the nurse has accountability. Bec covered 5 nursing diagnoses related to CMTC comprised of: Risk for Caregiver Role Strain, Disturbed Body Image, Activity Intolerance, Impaired Physical Mobility, and Chronic Pain. These diagnoses described related factors, defining characteristics, actions and interventions a nurse would suggest and/or perform. You can find more information regarding Nursing Diagnoses on our website under the Resources tab on the homepage.
Our last session of the day was titled, “What’s Your Journey?” We chose to repeat this session this year, as last year we learned it was not only informative, but encouraging for everyone to hear each other’s story. Bec transitioned into this session sharing her family’s journey with Ellayna. The struggles and hurdles they faced, the challenges of dealing with the unknown, the realization of knowing their precious child required stimulation, bag and mask ventilation, endotracheal tube ventilation, cardiac compressions, and oral and tracheal suctioning at birth. As well as living through the horror of being told Ellayna may not see day 2. Bec shared the list of diagnoses Ellayna has received to date, in addition to her multiple weekly therapy sessions. As the Gallis family’s portion of this session came to a close, it was time for others to share their journeys. Families were shown 4 images, a road closed/detour sign, a city highway where the car lights represented a fast pace, a treacherous road on the side of a mountain overlooking a cliff, and finally a lonely road in the middle of nowhere. They were asked the question, “Which one of these describes your journey?” One by one, families shared their journey. Everyone could see how we have fallen into mutual rareness, and became a family. This session was a touching, moving, personal, emotional experience for many.
Aloha Chicago!!! While the general session was going on, this kids had a great time in their own space. They played games, watched movies, made crafts, and just sat and talked. They were also entertained by Aloha Chicago. The kids experienced a South Pacific Island adventure with true Polynesian culture. With live music and singing, dancers performed dances native to Hawaii, Ori Tahiti, New Zealand and other locations. They definitely brought the magic of the islands, and even taught the kids a few dance moves!! They had a fantastic time!
The conference app was again a useful tool for participants. We were able to notify those traveling by air, where they could find the shuttle for the hotel. Notification was sent to everyone, to assist them in finding their way to the pizza party, general session, and clinical assessment locations. Each family was paged via the app to report to their clinical appointment. This permitted families the opportunity to remain in the ongoing presentations as long as possible.
Thank you to our elite doctors for giving their time to educate our members. Next year’s global conference is already beginning to develop into a new level of care and expertise. The Board of Directors is working closely with our medical advisory team, to organize our conference at a location focused on your medical needs.
Conference videos will be made available in the members area as soon as possible. Thank you to everyone who participated in this year’s conference. We look forward to seeing you again next year. ~ Bec
2016 Family Day and Annual Conference Report
On July 22, 2016 Family Day was underway. The organization paid admission and exhibit fees to COSI (Center of Science & Industry) for all who attended. The fun began with the “Adventure in the Valley of the Unknown” where we had to follow clues of an ancient culture to unlock the Observatory of Knowledge. Next we visited the Planetarium and went on a Star Safari, where Orion the master scout introduced us to the animals found in the night sky. Later, we visited the exhibits of Progress, Gadgets, Life Labs, Game Masters, and Ocean Life, just to name a few. It was a great day, and enjoyed by everyone of all ages.
On July 23, 2016 the Global CMTC-OVM US Organization held their annual conference. This year the conference was located in Columbus, Ohio at the Courtyard Marriott Downtown. There were 8 states and 3 countries represented by those in attendance. Upon arrival, each family was given a booklet containing the Agenda, Board of Directors bios, a Financial & Fundraising piece, How to be an Advocate article, and a place for note taking. New color changing cups with the organization logo were also given to everyone. They change with the temperature of the liquid inside, changing to purple when cold, and a frosty white when warm. Hmm, what else changes under these conditions?
HIPAA – In the effort to remain complaint with our federal laws, the CMTC-OVM US Organization has incorporated HIPAA into our standard practice. Each patient/caregiver completed a HIPAA form, that was signed by the organization president, and returned to them at the conference. The medical team expressed their admiration, appreciation, and approval of our new practice.
CMTC-OVM US President Rebecca “Bec” Gallis, opened the conference with an overview of the organization and the introduction of the Board of Directors. During her presentation she identified the 6 conferences in which the organization will be represented at in 2016. Recognition was given to the 2 affiliations where the organization holds membership: NORD National Organization of Rare Diseases and Global Genes Rare Foundation Alliance. Also, an explanation of the Rev. Dr. Edward Gallis Memorial Scholarship was given. The Gallis Family was once again delighted to provide a financial contribution, to supplement one family’s travel expenses to the conference.
A financial report was provided by Treasurer Tabatha Broussard. Her presentation included the dynamics of our financial status, stressing the critical role our members play. It was stated that our operating capital comes from paid memberships, fundraisers, and outside donations. After defining where our funding originates, Tabatha explained how it is spent. She commented that the annual conference typically ranges from $2500 to $4500 per year, clarifying this is our largest expenditure. She continued with providing the details of how we afford to be represented at other conferences, by means of travel scholarships offered by each hosting organization. These travel scholarships cover the majority of our expenses, as we continue to spread awareness of our organization and the rare diseases we represent.
Andrea West, Fundraising Chairperson, spoke next about the organizations fundraising activities. She described the current campaigns; t-shirts, bracelets, Beef-n-Beer, and Amazon Smile. Of course, the Beef-n-Beer required a definition as it appears to be an event native to New Jersey. This fundraiser has created the largest revenue to date, and Andrea is currently planning another one for later this year. She stated that people using Amazon Smile have contributed approximately $400 over the past year, and then provided the process to those in attendance of how to use this income generating tool.
Lex Van der Heijden represented the Dutch CMTC-OVM Organization. Lex provided an overview of the activities in that organization over the past year, as well as some objectives for the future.
A new resource introduced to our members was PALS, Patient AirLift Services. Jaime Pacheco, outreach coordinator, gave a presentation about the services provided by PALS. This is an excellent way for you to get where you need to be, with less stress. Their motto is: Changing Lives, One Flight at a Time. They arrange free air transportation for individuals requiring medical diagnosis, treatment, or follow-up to those living in the northeastern United States. For those outside of their region, they will connect you with the flight servicer in your area. All pilots are volunteers who receive no compensation, and use their own aircraft or rented aircraft. Best of all, there is no charge to the patient or their family. Visit their website to see if they can assist you. PALS.
Dr. Carina Siracusa provided an information filled presentation regarding the importance of physical therapy. Carina, a graduate of Marietta College and Ohio University, was a physical therapist for one our members for 9 years. As she was assessing and treating this patient, she was also learning from this patient. As this was her first experience with CMTC and a significant overgrowth/leg length discrepancy and all that was involved with the patient’s diagnoses. Dr. Siracusa instructed on proper stance and swing within the gait of an individual, describing the abnormalities often involved with low muscle tone and/or asymmetrical anatomy. She later covered the use of AFO’s (ankle-foot orthosis) and the various types. As well as the best type of crutches (forearm crutches), walkers (posterior walkers), and wheelchairs available for children. When asked how to get an appointment with a physical therapist, she replied any doctor can write the order. She received questions on various topics ranging from the best type of shoes to the advantages of hydrotherapy. Dr. Siracusa also provided consultation to those requesting her expertise.
Next was Dr. Elias Traboulsi who covered the disciplines of ophthalmology and genetics. The Head of the Department of Pediatric Ophthalmology and Director of the Center for Genetic Eye Diseases at Cleveland Clinic’s Cole Eye Institute – Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University – Director of the Ophthalmology Residency Program at Cleveland Clinic – Chairman of the Department of Graduate Medical Education at Cleveland Clinic – Board Certified Genecist, Dr. Traboulsi was an excellent addition to our medical team at this year’s conference.
He began with educating on the anatomy of the eye, illustrating the location and definition of each part. Describing the proper function of the eye, he defined how each part relies upon the next. Glaucoma was covered in-depth, as this is a risk with those diagnosed with CMTC. There was much discussion related to this topic. Dr. Traboulsi shared photos comparing a normal healthy eye, and one with glaucoma. It was crucial that he clarify that glaucoma pertains to pressure within the eye, as opposed to pressure behind the eye. He also presented a photo of one of our member’s who has multiple vascular deficits within the eye, defining the dilation of vessels in addition to the irregular display of the vessels. We had several patients present who have been diagnosed with glaucoma, and this was the first year we have had the discipline of ophthalmology represented. Dr. Traboulsi also provided consultation to those requesting an assessment.
Returning this year was Dr. Joan Tamburro, an exceptional member of the VAC (vascular anomalies clinic) team and a leading dermatological specialist at Cleveland Clinic. Her presentation started with talking about the very difficult knowledge of nomenclature (the devising or choosing of names for things in science and medicine). When we learn things, we often continue to refer to them in same the manner in which we were taught. While we were instructed on a topic using one description, someone else was likely instructed on the same topic using a different description. This process can easily create confusion. For example, one doctor may diagnosis a hemangioma (a growth that forms due to an abnormal collection of blood vessels), another may diagnosis the same deficit as dilated blood vessels. Or, while one may refer to CMTC as lesions, another might suggest they are noted as markings. One definitely sounds more threatening than the other. Therefore, making nomenclature understanding extremely complex. Another issue that increases misunderstanding is the need to determine if a patient has malformed vessels or extra vessels. Dr. Tamburro stated rare diseases do not have “standards” which often enhances the complexity of the understanding of nomenclature.
Continuing, she shared the importance of patients being seen by a VAC team. These teams have changed over the years. They first had only a few disciplines represented on the team, to now having dermatology, genetics, ophthalmology, orthopedics, cardiology, interventional radiology, gastroenterology, pulmonary, endocrinology, pathology, hematology, pediatric surgery, and plastic surgery. She reported that the Cleveland Clinic also has a psychologist on their VAC team. Most of these teams meet monthly or bi-weekly.
Dr. Tamburro also noted there are advances being made in regards to capillary and vascular malformations. She professionally and discreetly described the need for biopsies, and how they are performed. She communicated the breakthroughs related to Beta blockers on infantile hemangiomas, and Sirolimus for lymphangiomas.
During her presentation several questions were asked and discussions occurred between members, herself, and Dr. Traboulsi. It was a wonderful time of learning, as no question was left unanswered. Following lunch, Dr. Tamburro performed clinical evaluations late into the evening.
This year we used a blog to inform participants of things such as: what time to meet for Family Day and where – the location of the general session. We had to use a blog, as we were notified 4 weeks before the conference, that the free app service we used last year would no longer be available. We are currently researching free apps to use next year.
We were fortunate to have a volunteer for the kid’s room, thank you Renee Smith for your help. The room was filled with board games, cards, coloring books with crayons and markers, a giant twister game, and more. They played musical chairs, and even wrote and performed a play with 2 performances, “Sherlock Holmes is Coming to Town.” Not only did they perform for us, we were also served beverages during the play!
In the past, the kids room and the general session room have been in a large room separated by a partial air-wall. However, this year that was not an option. Typically parents have liked having their kids where they can see them, but this year some stated it was nice having the separation. The board will consider this for next year.
To continue the efforts to accommodate as many members as possible, we will be in a different location for the 2017 Annual Conference. The Board of Directors is currently researching locations, and will announce where the 2017 conference will be held next year, sometime this fall. Stay tuned, the annual conference will be coming to a city near you.
2014
On July 5, 2014. the CMTC-OVM US Organization held their annual conference. This years conference was held in St. Louis Missouri for the second consecutive year. The conference was held at the conveniently located Hilton St. Louis Airport hotel, adjacent to Lambert St. Louis International Airport (STL). There were registered participants from 7 states and 3 countries in attendance this year.
The general session was opened by Becky Gallis, CMTC-OVM US President. Following a brief welcome and time of orienting the group to the location of the medical evaluations, things were underway with the first presentation.
Prof. Dr. Suzanne Pasmans, professor of pediatric dermatology from the Rotterdam area, Netherlands. She provided an informative presentation discussing CMTC and other vascular malformations, providing examples of the differences and similarities of each. She also provided free medical evaluations, and this year was no different than those past, as some diagnoses were confirmed while others were changed. Dr. Pasmans also gave a presentation during the general session covering the development of the Dutch Skin House. While this website is currently only in Dutch, she shared that an English version would occur in the future.
Brandy James, MA., MS., Child Development Specialist and Family Life Educator for Head Start, Inc., and CMTC-OVM US Secretary. Brandy has dedicated her research to examining chronic sorrow and the effects of parenting children with rare diseases/syndromes and family systems. Her presentation enlightened parents on concepts of effectively directing a psychological/emotional situation focusing on the well-being of their child. A new component to the conference this year, was a consultation with Brandy immediately following each families medical evaluation. This was noted as a successful and welcomed addition to the conference and will continue in the future.
The Missouri Backyard BBQ was the lunch menu again this year. Following lunch, Becky shared the US organization’s mission and structure. In addition, she commented on the website renovation that is coming soon. She wishes to involve more personal stories, with a news-feed sharing achievements/accomplishments of members; such as, awards at school, community acknowledgements, etc. The US organization’s Treasurer, Tabatha Broussard, spoke on the financial status of the organization, and our current needs. Andrea West, our fundraising director, presented her vision for future fundraising opportunities, via Skype as she was unable to attend. Lex van der Heijden, NL organization president, presented the Dutch and International mission, structure, and financials.
The conference weekend proved to be a wonderful time for the families that attended. Some took the opportunity to spend the day together at The Magic House – St. Louis’ Children’s Museum. In addition, nearly everyone traveled to Forest Park for the 4th of July festivities, with lots of food, fun, and of course fireworks!
The CMTC-OVM US Board of Directors are making every effort to accommodate as many members as possible. Therefore, next years conference will be in a different location. Stay tuned, the annual conference will be coming to a city near you.
2021
2019
The conference began on July 19th with our Family Event. This event has become an annual tradition, hosted by the board of directors. We had a private room at the Holiday Inn Cleveland Clinic, where we ate pizza, reunited with members who have attended in the past, as well as got to know new members. Of course the kids were anxious to wrap up the pizza party, and head to the pool.
Saturday’s conference had an early start! All attendees enjoyed a hot breakfast, provided by the organization, at 7:00 a.m. After families 
had finished their breakfast, it was time to check their children into the professionally supervised Kids Korner, before making their way to the third floor auditorium for presentations. The children’s space was supervised by Ronald McDonald House STAR Center staff. Their staff must have a college degree in Child Development, Special Education, Family Studies and current child care experience. Entertainment was provided for children ranging from age 3 to 15. They enjoyed reading books, coloring, puzzles, watching videos, playing video games, board games, crafting, and much more! The staff from RMH has already starting making plans for the 2020 conference.
Our presentations began on time with a return CMTC Alliance member, Elisabeth Hodges, sharing her interest in nutrition with her colleague Brandy Foss RN. Their session titled Nutrition & Hope, was not for the purpose of selling a product. But, to educate on an easy, simple concept that can benefit your quality of life by improving cardiovascular wellness, supporting the immune system, improving gum tissue, reducing oxidative stress, protecting DNA, creating healthier skin, and more. The ladies shared examples of how Juice Plus works within the body, and is referenced in medical and scientific journals with evidence-based research facts.
The first medical presentation of the day was by Cleveland Clinic Children’s Pediatric Dermatologist, Dr. Joan Tamburro. Health literacy is affected by culture and society, health systems, education systems, and health outcomes and costs. The complications that can come from this is misinformation, diagnoses with limited knowledge, in addition to loss of evidence-based medicine.
Dr. Tamburro asked the question, “Do diagnoses hurt, and not help? While placing a name on something makes a physician feel accomplished, as well as makes patients and families feel better. In the world of rare disease there are times when people do not understand that when knowledge changes a diagnoses can also change. As the study of patterns and Mosaicism evolved, the grouping of skin patterns contributed to the ability to group patients with similar health concerns. However, the need to look back at embryology is important to understand how subtle things change with development. She stated that since we currently do not have any gene link for CMTC, vascular anomalies subspecialties are making an aggressive push to finding out the cause through other research studies, such as overgrowth and undergrowth. Dr. Beth Drolet, MD, Chair of The Department of Dermatology – School of Medicine and Public Health, University of Wisconsin, has focused on discoveries related to birthmarks, vascular anomalies and infantile hemangiomas. Click here to learn how you can participate in Dr. Drolet’s study. Please check back often for updates to her research study.
Next, we had the opportunity to hear from Matthew Elitt, Ph.D (Genetics) from Case Western Reserve University. Dr. Elitt placed criteria for clinically defining CMTC diagnoses into 2 categories, major and minor. The major criteria includes congenital reticulate erythema which is unresponsive to warming and absence of venectasia (varicosity of a vein). While the minor criteria includes fading of erythema, telangiectasia, port wine stain, ulceration, and atrophy. He stated the importance of investigating possible pathological mechanisms in CMTC. Are there possible environmental exposures? Currently it is believed to be the result of a mutated gene with mosaicism, where one cell develops the mutations during the process of division creating a different genetic makeup.
So where do we go from here? Dr. Elitt stressed the importance of genetic testing to find the common mutation and then identify the association and make a correlation. But this requires skin biopsies of normal and affected skin. Currently, Dr. Millan Patel, Assistant Professor in the Department of Medical Genetics at the University of British Columbia, is conducting a study on Classic CMTC. Click here to learn how you can participate in Dr. Patel’s study.
Dr. Elias Traboulsi of the Cole Eye Institute at the Cleveland Clinic – Ophthalmology and Genetics – was the next presenter of the morning. Ocular abnormalities include skin and eyelid involvement, facial and periocular involvement. Glaucoma is the most common eye problem with CMTC. Dr. Traboulsi shared the congenital glaucoma in CMTC causes damage to the optic nerve related to untreated elevated intraocular pressure. If caught early, this can be treated with eye drops and/or surgery.
Retina involvement in CMTC has been noted with a marbled appearance of the choroid, the highly vascular membrane that provides oxygen and nourishment to the outer layers of the retina. It has also been noted in some cases to have a tortuous appearance of the retinal vasculature. Choroidal hemangioma are also a possibility. This is a benign vascular tumor often associated with more redness and darker vascular malformation around the eye. If left unattended, they can cause additional pressures due to blood vessels leaking, and eventually resulting in retinal detachment.
Dr. Traboulsi’s recommendations for eye care focuses on prevention, by starting eye exams early. These appointments would include checking eye pressures and examining the retina. If periocular or Choroidal hemangiomas are present, these need to be assessed every 3 to 4 months with the possiblity to reduce the frequency later. If there are no periocular or chorodial involvement, yearly eye exams including eye pressure checks would be sufficient.
Concluding our morning sessions was a presentation on laser treatments, by Dr. Cheryl Bayart Cleveland Clinic Children’s Pediatric Dermatology. She began with introducing how lasers work through selective thermolysis, the breakdown of molecules by the action of heat. Laser type determines the laser’s target, such as oxyhemoglobin targets blood vessels. While it is important for lasers to be strong enough to damage it’s target, it is also important for them to minimize damage to surrounding tissue.
As with any procedure, lasers can have side effects. Such as; pain, bruising, ulcerations, and scarring. A thorough consultation with your physician is crucial. They will share possible distractions to reduce anxiety, for example listening to music. In addition, your physician will discuss length of time to perform the procedure and the initial outcome. Often there can be exterior skin damage similar to a sunburn, and the skin can be fragile for a while.
Laser for CMTC would obviously target blood vessels. The pulse dye laser (PDL) is considered old-school, but is the most frequently used. Although the FDA approves this laser for multiple vascular conditions, it is not the most effective on CMTC lesions. The intense pulsed light (IPL) is newer than the PDL, has high intensity flashlamp with different wavelengths, causes less bruising and is capable of reaching deeper and larger vascular structures. The IPL laser is becoming the one of choice for CMTC. Dr. Bayart shared the case of a 4 year old diagnosed with CMTC. The child had painful ulcerations despite intense wound care. They began with 2 treatments using PDL, then progressed to the IPL for 2 additional treatments, resulting in less pain and the ulcerations healed. They have learned that laser treatment may be helpful for some CMTC patients; however, they still have a lot to learn. She stressed it is important to understand that lasers are used for symptom management – they are NOT curative.
Following a catered lunch, everyone returned to the second floor for group discussions and clinic appointments. Having the conference at Cleveland Clinic Children’s had many benefits, one being the use of exam rooms. Everything the doctors needed was at their finger tips, and they had necessary lighting to make a clinical assessment with ease. Utilizing multiple exam rooms was also a benefit, allowing doctors to perform assessments simultaneously. This was an exciting year for us, as we had 42 scheduled clinical exams. The clinic portion of the conference was of the utmost professional standards. Families were placed into groups, allowing one group to navigate through the exam rooms, while the remaining groups attended group discussions.
The group discussions were informal, and found to be very beneficial for all involved. Although the mediators had questions prepared, the families were also ready with their questions. Here are a few topic examples discussed: How has your immediate family been impacted by your patient’s diagnosis? Has it changed your families dynamics, do you find it hard to manage your patient’s care while also caring for their siblings? What day to day activities have you had to adjust for your child due to their diagnosis? How have you approached talking to your child about their diagnosis?
Again this year we used a conference app to communicate. This tool has proven to be helpful with updating participants on last minute details, to announcing the start of sessions, to informing the groups when to make their way to the exam rooms.
Once again, our elite team of medical experts were phenomenal! They gave of their time, provided outstanding presentations, answered multiple questions, and performed assessments free of charge! We cannot thank them enough! We also are thankful for the administrative staff at Cleveland Clinic Children’s and Ronald McDonald House for their professional contributions to this years conference.
Thank you to the families who attended. You were an essential part of building our relationship with Cleveland Clinic Children’s. It is becoming a collaborative relationship, allowing us to become part of their “World Class Care.” As we look forward to the conference in 2020, we wish you all the best of health. See you in Cleveland next year ~ Bec
2017
2017 Annual Family Event and Global Conference Report
The annual conference began on Friday, July 21st, with our Family Event. Due to this day typically being a travel day for families, the Board of Directors chose to host a pizza/pool party at the hotel. This gave parents time to relax and not think about dinner, and the kids got to burn off some energy after a day of travel. With the temperature near 100 degrees Fahrenheit, and the heat index around 107, a dip in the pool was a refreshing experience. Moreover, it permitted those who characteristically cannot tolerate the heat, to enjoy the fun as well. All families participated in this event, it was a huge success and will be repeated in the future.
On July 22nd, the Global CMTC-OVM US Organization held their annual conference. The Airport Courtyard Marriott was our destination in Memphis, Tennessee. We are excited to report that we had 11 states and 3 countries represented this year. Check-in began at 7:45am with a continental breakfast. During this time, each family received their conference booklet, name tags, cards for personal menu selections, and HIPAA forms. Last year we adopted the practice of providing HIPAA documentation for our families, in compliance with federal laws. Our booklets this year were professionally printed, and included information, such as: Conference Agenda, Board of Directors bios, Physicians bios, Guest Speakers bios, Other Possible Diagnoses, Finances, Fundraising, Family Engagement, Awareness, Advocacy, and space for note taking.
At promptly 8:30am, our President Rebecca “Bec” Gallis got the conference started with an overview of the organization. Bec stressed how being rare has brought us together as a family, continuing our motto: We’re all a little rare; but, when we fall into mutual rareness… We Call it a Family. Our attending physicians, Dr. Joan Tamburro and Dr. Rocio Moran, were welcomed into our family as well. After the introduction of the Board of Directors, everyone was given the opportunity to introduce themselves. Bec’s presentation covered the topics of how we became a formal non-profit organization, our demographics in the USA and internationally, other organizations where CMTC-OVM US holds membership, past conference locations, 2017 conference participation, and Day of Awareness/Lights of Hope.
The website was covered extensively. As we feel it is important to provide members and visitors to our website with the best possible security, it was explained how we are a secure site with Secure Socket Layer Encryption (SSL) certification. A justification of our medical disclaimer was also provided. This disclaimer is in place, not because we question the information provided, but as a notice that the information is intended for educational purposes, and should not substitute the medical advice, diagnosis, or treatment of a licensed practitioner. Other items brought to attention on the website included; our elite Medical Advisory Team, Vascular Anomalies Clinics (VAC) listed by state, Rare Toolkits courtesy of Global Genes – Foundation Alliance, Nursing Diagnoses, our brochure, and much more. Also, the world map that was recently introduced on our website. This map is also a secure site, where those wishing to participate can enter their information to designate their general location and diagnosis. It was stressed, that the Global CMTC-OVM US Organization does NOT enter anyone’s information. Individuals can enter as much or as little information as they wish. You can remain strictly anonymous, and we do not store your personal information on our server, nor does the mapping website. Finally, Bec revealed approximately a dozen websites, where you can find a link to the organization’s website. Thus, if you were doing research on CMTC or vascular malformations and you entered one of these sites, the Global CMTC-OVM US Organization would be listed under patient organizations.
Detailed financial information was provided by Treasurer Tabatha Broussard. Once again, it was explained how the organization’s operating capital comes directly from paid memberships, fundraisers, and donations from the public as we do not receive any government subsidies. She outlined the cost of the conference, in addition to other organizational expenses. Tabatha informed those in attendance, how being members in good-standing they were eligible, as per our bylaws, to receive a financial status report if they wished. She continued her presentation giving the current fundraising options. The color changing t-shirts, bracelets, Amazon Smile, and Andrea West’s (Fundraising Chairperson) event have been very successful. In addition, Tabatha outlined our involvement in other conferences, and how most of those expenses are covered by travel scholarships offered by each hosting organization. Any remaining expenses are covered by the CMTC-OVM US president, not the organization.
Our morning continued as our attending physicians addressed the medical issues of dermatology and genetics. Dr. Joan Tamburro returned this year. Her expertise as a leading dermatological specialist at the Cleveland Clinic, proved once again to be extremely beneficial to our families. In addition to her position in the dermatology department, she is also an exceptional leading member of the VAC (vascular anomalies clinic) team at the Cleveland Clinic. This particular VAC team consists of 25-30 physicians, working together to sustain patient quality of life. Dr. Tamburro’s educational presentation covered the importance of achieving a firm foundation within health literacy. This foundation assists in alleviating confusion and misinterpretation within medicine. Health literacy is affected by the health system, health outcomes and costs, education systems, culture, and society. She believes patients and families struggle to get the healthcare they need for an ultra-rare diagnosis, such as CMTC. Therefore, her information was directed toward the various pathways of health, because at this moment we do not have one specific pathway to direct the care for patients with CMTC, as the disease pathway has not been determined. For now, until research and evidence-based care plans are created, care is attentive to monitoring and treating the symptoms. She continued, as in preceding years, to stress the importance of an interdisciplinary team, for example a VAC team as this is where precise healthcare occurs for these patients. Dr. Tamburro stated it is normal to have been told different things pertaining to a vascular malformation diagnosis. This is mostly due, to how rare these conditions present, the fact that doctors are still learning, and living in different locations can affect medical practice.
New to our team this year was Dr. Rocio Moran, who is the Division Director of Genetics and Genomics in Cleveland, Ohio. Dr. Moran’s informative presentation covered the intricate concepts of genetics in vascular/capillary malformations. She discussed the importance of a diagnosis, not only to a family seeking answers, but also to physicians. The lack of a diagnosis can lead to unattainable treatment plans, unwarranted family/patient anxiety, and much more. Dr. Moran explained how a germline and/or somatic theory in diagnoses such as CMTC, can make a huge impact. While a germline cell mutation supports the idea that CMTC could ultimately be passed onto an offspring. Somatic cell mutations, recombinations, and other genetic changes will not be passed to offsprings. Therefore, by this understanding and the evidence of cases where only one child diagnosed with CMTC in a set of identical twins exists, the theory of CMTC being a somatic mutation is evident. She also shared that people should not be discouraged when a doctor states, “I don’t know.” This statement reveals transparency. And, when a doctor makes that statement, rest assured they are the ones who are more likely to seek the answers. We are pleased to announce that Dr. Moran has also accepted our invitation to join our medical advisory team. We look forward to her returning to our conferences in the future.
Following the doctor’s presentations, came the session titled, “What’s on Your Mind?” During this time, Dr. Tamburro and Dr. Moran answered approximately 40 questions provided to us prior to the conference. There was a wide range of questions, and it was exciting to watch these two doctors brainstorm and intertwine their medical disciplines to answer these questions. These questions and answers will be made available on the website ASAP. This session will definitely be repeated at upcoming conferences.
Both Dr. Moran and Dr. Tamburro are looking forward to becoming more involved with the Global CMTC-OVM US Organization as we move forward!
Following lunch, both physicians began clinical evaluations that extended through the day and evening, finishing the last one at 10pm. Our medical team is focused on providing a thorough evaluation, and leaving no question unanswered. Each family also received a professional counseling follow-up as soon as they left the doctors.
Secretary Brandy Lockridge, gave her presentation that concentrated on Collaborating with Schools. She began with defining IFSP (Individual Family Service Plan) for infants and toddlers, and IEPs (Individualized Education Plan) for individuals age 3 through 21. IDEA (Individuals with Disabilities Education Act) is a law ensuring services to children with disabilities and special needs throughout the nation. It ensures public agencies provide early intervention, special education, and related services. Brandy continued to educate on the eligibility requirements for the 504 Plan versus the IEP. While both require a child to have a disability, she stated there must be a negative impact on academic achievement or functional performance for the child. The IEP also covers the need for specially designed instruction. Furthermore, the 504 Plan lists accommodations a school will provide. Brandy stressed the importance of knowing your rights and the rights of your children.
Dr. Seth Kastle, who is the organizations Family Engagement Coordinator with his wife Julia, gave a presentation on Volunteer Engagement in the Non-Profit Sector. Seth shared their family’s story of the uncertainty, the unknown, and the relief brought forth by being part of a community such as the CMTC-OVM US Organization. He went on to expressed how we grow together as we learn more about a diagnosis, and when a diagnosis changes. He continued by stating that engagement is how our growth as a family or community occurs. Seth explained how the board is comprised of parents who are medical professionals, accountants, teachers with different strengths. He also identified how you as members, also have strengths that can guide you to benefit the organization and ultimately yourself. Dr. Kastle shared what we need as an organization, and how we welcome input and assistance from our members. While becoming engaged within a global organization can be overwhelming, Seth introduced ideas as to how our members can help, by also engaging with those within their local communities at home.
It was a pleasure this year to have Jenna McNair, a representative from Path International, join us to educate families on the benefits of therapeutic horseback riding. Jenna informed everyone how this program teaches riding skills, and uses equines to contribute positively to the cognitive, physical, emotional, and social well-being of individuals with special needs and disabilities. She continued by stating horses do not judge, riding and working with horses encourages independence and fosters confidence. Path International was founded in 1969. Education is the foundation of this organization. They are an industry leader in best practices, all instructors are certified and required to complete CEU’s annually, and they promote mandatory safety standards with member and premiere accredited centers. Jenna invited everyone to visit Trinity Farm before traveling back home, to experience and interact with their horses. A few families took her up on the offer, and had a great time.
Elisabeth Hodges addressed the magnitude of healthy living through nutrition, and how one simple change can make a positive impact on you and your child’s life. The information Elisabeth shared was not for the purpose of selling a product. But, to educate on an easy, simple concept that can benefit your quality of life in addition to improving vascular health. As we can often be so busy, we find that a hamburger from a fast-food restaurant is convenient; however, it is not a healthy choice as we all know. Elisabeth introduced us to a product called, Juice Plus. This is a product that can bridge the gap between what we should eat, and what we actually eat. Juice Plus is referenced in medical and scientific journals with evidence-based research facts. Journals where you can find these facts includes: The Journal of Pediatrics, Skin Pharmacology and Physiology, Journal of Clinical Periodontology, Journal of Nutrition, Medicine & Science in Sports & Exercise, and many more. As over time people are becoming more health conscious, there were several individuals interested in this program.
Nursing Diagnoses was the next presentation in the afternoon. Our President “Bec” gave the explanation of what a nursing diagnosis involves. Many people do not realize that a nursing diagnosis even exists. Whereas a medical diagnosis is given by a physician, and never by a nurse; a nursing diagnosis is by a nurse and not a physician. A Nursing diagnosis is defined as a clinical judgment about individual, family, or community experiences/responses to actual or potential health problems/life processes. It provides the basis for selection of nursing interventions to achieve outcomes for which the nurse has accountability. Bec covered 5 nursing diagnoses related to CMTC comprised of: Risk for Caregiver Role Strain, Disturbed Body Image, Activity Intolerance, Impaired Physical Mobility, and Chronic Pain. These diagnoses described related factors, defining characteristics, actions and interventions a nurse would suggest and/or perform. You can find more information regarding Nursing Diagnoses on our website under the Resources tab on the homepage.
Our last session of the day was titled, “What’s Your Journey?” Bec transitioned into this session sharing her family’s journey with Ellayna. The struggles and hurdles they faced, the challenges of dealing with the unknown, the realization of knowing their precious child required stimulation, bag and mask ventilation, endotracheal tube ventilation, cardiac compressions, and oral and tracheal suctioning at birth. As well as living through the horror of being told Ellayna may not see day 2. Bec shared the list of diagnoses Ellayna has received to date, in addition to her multiple weekly therapy sessions. As the Gallis family’s portion of this session came to a close, it was time for others to share their journeys. Families were shown 4 images, a road closed/detour sign, a city highway where the car lights represented a fast pace, a treacherous road on the side of a mountain overlooking a cliff, and finally a lonely road in the middle of nowhere. They were asked the question, “Which one of these describes your journey?” One by one, families shared their journey. It was truly a time where we laughed together and cried together. This session quickly became a touching, moving, personal, emotional experience for all.
During all of this, we were fortunate to have a volunteer for our kid’s room. We would like to thank Heather Parke for devoting her day to watching over our kiddos. Their room was filled with books, board games, coloring books with crayons and markers, a large screen to watch their favorite movies, and much more.
We returned to a conference app this year, and it was amazing. Prior to the conference, we used the app to provide instructions for the hotel shuttle from the airport. As the location for the conference was hundreds of miles away from where board members live, we had to wait until we arrived to have answers to a few questions. The app created a way for us to send notifications with last minute details once we arrived on site. It was also useful during the clinical evaluations. To permit families to participate in the ongoing presentations, each family was paged via the app to report for their appointment. A wonderful tool that will be utilized again.
As you may know, our conference location is a different city each year. Therefore, in an effort to accommodate our members, the board is currently searching for our 2018 location. We may be coming to a city near you!
The conference videos will be made available in the members area of the website as soon as possible. Thank you to everyone who participated in this year’s conference. We look forward to seeing you again next year!!
2015
2015 Family Day and Annual Conference Report
On July 10, 2015 several families went on an adventure to Imagine It! The Children’s Museum of Atlanta. The organization paid admission for all who attended. We experienced many different exhibits, such as: Fee-Fi-Fo-FUN, the world of fairy tales – Fundamentally Food – Leap into Learning – Let Your Creativity Flow – Tools for Solutions. Parents and kids had a great time exploring how things work, watching science presentations, and just taking the day off to have fun. Visit the museum website at Imagine It. We had a great time, and we’re sure you would too.
On July 11, 2015 the Global CMTC-OVM US Organization held their annual conference. This year’s conference was held in Atlanta, Georgia at the Atlanta Marriott Century Center/Emory Area Hotel, conveniently located off I-85 and minutes from downtown.
The general session was opened by CMTC-OVM US President Rebecca “Bec” Gallis. Bec gave an overview of the organization and introduced the board of directors. She explained our membership demographics and the need for the annual conference to be in a different location each year to accommodate more families. Then recognition was given as to all conferences attended in 2014. Bec explained the Rev. Dr. Edward Gallis Memorial Scholarship, and announced this was the first year for someone to complete an application and be chosen to receive the scholarship.
Treasurer Tabatha Broussard gave a summary of the finances of the CMTC-OVM US Organization. Tabatha outlined where our funding originates, and how our members play a critical role in our financial stability – meaning our members are responsible for our success. She explained that fundraising activities put on by the board and members has contributed substantially to our financial well-being.
Fundraising Chair Andrea West, reported with excitement the fundraising activities that have recently occurred. Beginning with Amazon Smile, Andrea explained it is a simple and automatic way for people, not just members but everyone, to support the CMTC-OVM US Organization every time they shop, at no cost to them. She also reported on the new CMTC-OVM US T-shirts and how they change color as the body’s temperature changes. Several shirts were sold at the conference. Andrea introduced a new fundraising project that was made known to us by member, Linda Clouse. It is a beautiful stainless steel bracelet with a pewter charm made specifically for our organization. We are happy to announce that Linda will receive the first bracelet as a gift, once they arrive. Thank You Linda! And finally, Andrea shared the fundraising project that Bec will be participating in called, “Dancing With the Divas.” The celebrity fundraising event will take place on July 25, 2015 in Zanesville, Ohio. Once it is confirmed as to how you can view this event, it will be announced on the website and Facebook. Following Andrea’s presentation, Lex van der Heijden of the Dutch CMTC-OVM Organization gave his presentation describing their activity.
Brandy James, MA., MS., Child Development Specialist, Family Life Educator, and CMTC-OVM US Secretary, gave her presentation to educate parents on concepts of effectively directing psychological/emotional situations focusing on the well-being of their child. Again this year, Brandy provided consultation immediately following each family’s medical evaluation. This continues to be a successful and welcomed addition to the conference and will continue in the future.
Dr. Joan Tamburro, Dermatologist from the Cleveland Clinic in Ohio, delivered an informative presentation regarding the dermatological evidence of CMTC and the other vascular malformations. Dr. Tamburro explained how what some say are insignificant birth marks, are truly markings that warrant attention. She continued by stating not just the skin is affected in some cases, it is critical to assess other body systems such as: cardiac, pulmonary, urological, neurological. She confirmed the statement; “Wherever the markings are located, tissues and organs beneath can be affected.” Dr. Tamburro discussed the types of things to watch for, what to avoid, and the importance of sunscreen. She also stressed the importance of consulting with a vascular anomalies team to receive the best possible care for the patient with CMTC and other vascular anomalies. She also mentioned how doctors are programmed in med school to always be right, but stated this is not always the case, especially in the world of rare diseases. Value the doctor who says, “I don’t know” they are more eager to find the answers. During her presentation she answered a long list of questions from the attending members.
Dr. Millan Patel, Assistant Professor in the Department of Medical Genetics at the University of British Columbia, was the next physician to speak to our members. Dr. Patel described the genetic components of vascular malformations. He also clarified the inefficient temperature regulation of some patients, noting that when the vasculature is compromised the inability to “dump heat” is created – resulting in being extremely hot in warm weather or extremely cold in cooler weather. The vasculature cannot dump the heat into the core of the body to keep them warm, and cannot dump the heat to the skin to sweat and cool the body. He also stressed the importance of being a “Mama Bear” encouraging parents to voice their concerns and verbalize when they do not agree with the doctor. He stated a good advocate is one that will stand up for their child and challenge a doctor.
Rafael Oliver, one of our members with CMTC, gave an excellent presentation educating parents on coping with vascular malformations in sporting activities. He covered the challenges of physical differences, pain, mobility, and depression. Rafael’s topics included how to choose the right sports, how to keep cool in the summer, proper nutrition and hydration, the use of compression stockings, physical therapy, and relaxation techniques. He also provided a swim clinic in the hotel pool, and gave each child, including siblings, a back pack filled with sports related goodies. Rafael was an incredible asset to our conference this year, and we hope to have him participate again in the future.
This year was the first year we had two physicians performing the clinical evaluations. This was an amazing impact on the assessment of each patient. They were educated on the dermatological features of their diagnosis, as well as the genetic components. Several parents expressed their appreciation for the doctors being so active during the assessment as they took their time and looked at all markings, even if it meant getting down on the floor to do so. Once again, we had some patients who received confirmation of their diagnosis, as well as those who received a new diagnosis. Nevertheless, the parents/patients were educated on each diagnosis, and given ample time to ask the doctors all the questions they wished to ask.
Another first for the conference, was the use of the conference app. An app was created to keep participants informed of various things, such as: the conference agenda – and where the general session and clinicals were being held, a newsfeed where participants could communicate and share pictures, family day info regarding where to pick up tickets – where we were having lunch – what time to be at the museum. This was a valuable addition to the weekend, and will be used again next year. The notification feature was a great way to keep everyone connected and informed.
The CMTC-OVM US Board of Directors will continue to make every effort to accommodate as many members as possible. Therefore, next year’s conference will be in a different location. The board is currently working on the 2016 conference, and plans to announce the location by fall 2015. Stay tuned, the annual conference will be coming to a city near you.