Help with 6 yr old with CMTC
Six weeks ago I posted this under another thread and didn't get a response. So, being new to posting, I may have posted in the wrong place. I am hoping someone can help. Thanks for reading.
Hello everyone! My daughter is 6 years old right now and my husband and I are her biggest advocates!! It appears we have found the missing puzzle piece here on your website!! Thank You! It appears that our daughter has CMTC. After reading the signs/symptoms I was moved to tears BECAUSE someone FINALLY understands!! No one has listened to us so far and we have been to some top doctors at Children's Hospital of Philadelphia! We actually began researching three weeks ago after our daughter had an adverse reaction to septocaine during her dental work. My gut feeling was that there is some connection to her birthmark. So, here I am, finding out about CMTC. Kaylin has been diagnosed with hemihypertrophy (right side from the hip down), foot abnormalities(big space between 1st and 2nd toes, with alternating big and little toes), and put on the spectrum for autism which comes with its list of learning disabilities, which we have done extensive alternative therapies and biomedical intervention and she is functioning soooo much better. Kaylin has a large marble like birthmark on her back that takes up the majority of her right side and it does cross over her spine and is present on some of her left side. Kaylin's birthmark is so noticable when she is cold or cries. She tells us she "feels better" in the summer when it's warm and she has soooo much more energy and her entire personality is so much happier. As it starts to get cold, Kaylin begins complaining of numbness and tingling in her feet and legs when sitting and lack of energy and endurance. IN the winter, she still takes naps because she just gets so tired. But in the summer, that girl can run circles around me. This is so interesting to me. But no one can explain it, except that its just her personality, etc. She developed two lumps near the bottom of her spine when she was three and a lump in her chest as well that basically, they told us was fat. Hmmm, found that one interesting! Kaylin was born with this birthmark and a very, very small head. But no one had a diagnosis. They just said it was some kind of mark and it was no big deal. By three months of age, Kaylin's growth was off the charts for her head, weight and height. Her head was so big that it raised questions from our friends. But, ped said it was okay. Kaylin has always been bigger than average. We had a tremedously difficult time keeping her warm as a baby. Layers after layers and her hands and feet were still freezing. Kaylin has had what was called silent seizures but they said this was related to the autism. Kaylin also cannot seem to tolerate ANY type of chemical via air, water or food. We have had to change her environment completely. She also has an IBS. I have always felt there may be a liver and oxygen component with Kaylin's body but I'm just the mom listening to my instincts. Kaylin also had a severe reaction to one of her vaccines when she was 5 months old as well as not tolerating general anesthesia well.
I am concerned since she has had the septocaine containing epinepheron. She has not been the same. Does anyone know if this may be related to CMTC? Does the epinepheron constricting the blood vessels, etc make oxygenation less? Are there certain meds you can't take? I have read somewhere that you cannot take the birth control pill with CMTC. Just wondering?
We just saw a ped cardiologist this morning and that was a big waste of time, except for getting an okay on her EKG and echo. Her heartrate has been as high as 145 beats/minute for some reason and her blood pressure is a bit all over the place and as low as 69/42. I need to find a doctor that can give us a formal diagnosis!! I emailed Dr. Liang about 6 weeks ago, and I am haven't heard back. I am hoping she can lead me in a direction to get a diagnosis and move on from there. However, I am beginning to think we just need to fly to the Netherlands to have her seen!!
Sorry for such a long post. Six years of unanswered questions, emotions and tears is building up and I just want to talk to someone that will listen, truly listen, help us and not think I am crazy. Every doc we have seen tells me that birthmarks don't change color with crying and temperature! I can't tell you how relieved I was to read that symptom!!
Does anyone have any advice for me? We live in Delaware but are willing to travel. We are inbetween Philly and Baltimore.