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-   -   Help with 6 yr old with CMTC (http://birthmark.org/board/showthread.php?t=3617)

kristinagriffing 12-08-2009 04:56 PM

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.

missy 12-08-2009 11:06 PM

If you haven't already, you need to write to either Linda Shannon or to Dr Liang via our experts:

http://birthmark.org/experts.php

If they can't answer, they will know how to help you find an answer.

Missy

abatie 12-09-2009 12:34 AM

I thought this was site was going to help me too! I really haven't benefitted because it doesn't seem to be a very active board. I do benefit in being able to read the stories of other families dealing with CMTC the the posts are far between. I hope that you get the diagnosis you are searching for.

We are starting another round of doctor visits again. My daughter will be going back the the dermatologist to get a referral on to someone else. She is now having a different growth rate in her affected leg. She is also having some weird thing going on with her eyes where she is rubbing them so hard that she is rubbing her face raw. She is again not sleeping through the night since the temperature has dropped so significantly (0 today!). She also has some new sores above her ears that aren't healing.

I wish I could find some parents that have been sucessful in there search for the right doctors with the right answers. I really want some people that I can communicate regularly with that understand what I am dealing with. I am tired of everyone at work thinking I'm crazy. They don't get it because CMTC isn't something they have heard of.

missy 12-09-2009 12:24 PM

It's true ... sad, but true. We don't have many active parents dealing with this because it is so rare.

:(

I can understand how frustrated you must feel. Begin by emailing the experts on this site and perhaps they can direct you to other parents as well.

Missy

kristinagriffing 12-09-2009 06:11 PM

Hi Missy. Thanks for your reply. I too feel frustrated to not be able to communicate with others that understand! Ok, so, I did email Dr. Liang about 6 weeks ago and have heard nothing back. Should I try again?

Also, Abatie, I can try to make more of an effort to check this thread more often. I can tell you last night I was extremely frustrated with our situation and I emailed Dr. Levitine in Beverly Hills, CA and he returned my email within a few hours asking for my phone number to call me. I have yet to hear from him but I am hopeful he will call. He is a birthmark doctor listed in this organization, so check out the doctor list and look for his name under California doctors. His web address is listed there as well.

I would really just like to go where needed to get my questions, concerns and healthcare all answer and with a plan to help. I don't care that you can actually see my daughters birthmark at this time, I do care what it may possibly be doing to her health!! I need a doctor that cares and is willing to LISTEN to me, as her mother, and want to help!!

Abatie, do you live in the States?

kristinagriffing 12-09-2009 06:15 PM

Also, I have had 4 doctors now give us a formal diagnosis of CMTC but no one knows what to do about it and/or says you don't do anything for it. Just thought I would let you know. Once I found CMTC myself and started asking the docs what they thought, they have all agreed, but again don't have any other data beyond this.

Missy, are there any doctors specifically studing CMTC and doing research of any kind on this subject?

missy 12-09-2009 09:29 PM

Quote:

Originally Posted by kristinagriffing (Post 17963)
Hi Missy. Thanks for your reply. I too feel frustrated to not be able to communicate with others that understand! Ok, so, I did email Dr. Liang about 6 weeks ago and have heard nothing back. Should I try again?

Also, Abatie, I can try to make more of an effort to check this thread more often. I can tell you last night I was extremely frustrated with our situation and I emailed Dr. Levitine in Beverly Hills, CA and he returned my email within a few hours asking for my phone number to call me. I have yet to hear from him but I am hopeful he will call. He is a birthmark doctor listed in this organization, so check out the doctor list and look for his name under California doctors. His web address is listed there as well.

I would really just like to go where needed to get my questions, concerns and healthcare all answer and with a plan to help. I don't care that you can actually see my daughters birthmark at this time, I do care what it may possibly be doing to her health!! I need a doctor that cares and is willing to LISTEN to me, as her mother, and want to help!!

Abatie, do you live in the States?

Yes, please email Dr. Liang again. I believe she has been away on holiday, but if you will email her again, I will make sure she gets it and that someone follows up. I don't always get to see the communication that goes on off-site.

:(

Missy

abatie 12-09-2009 11:04 PM

Thank you for the last couple of posts since last night. I agree with not caring about people seeing Becca's leg.

Today it is -5 in the wonderful state of SD and Becca has only been able to eat 18 ounces all day. She has slept so much and she is extremely fussy when awake. She is playing on her heated blanket.

We are hoping for some answers on the 18th. Keep us in your thoughts!

kristinagriffing 01-05-2010 08:27 PM

Abatie, how is it going? Did you get any answers? Hope you had a nice holiday.

kristinagriffing 01-05-2010 08:30 PM

Thanks Missy. I will do so. I talked briefly with the Doc in Beverly Hills in December, but don't completely agree with what he had to say. I think the frustrating part in all this is that there is just simply not enough data and research on this to give more help. I will let you know when I email Dr. Linda Liang again. Gotta run right now.


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