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CMTC

KimberlyD0
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My Daughter is 6.5 months old. When she was born her right leg and foot was covered in dark blue almost black vains. We were told she had a venus malformation and it would go away.

When she was 2 months old I noticed her right leg and foot were smaller in muscle mass. We got a referal to a pediatrition right away. 2 weeks later she told us it was Cutis Marmorata Telangiectatica Congenita.

When she was 4 months old I noticed her right leg was shorter then her left. Its shorter by 2 inches. I was told by the pediatrition this was normal.

We have an appointment with a doctor at CHEO this week.

I really would like to talk to other parents who's children have this. I really can't find a lot of information.

If anyone has anything they could share, what to expect that kind of this I would be very greatful.

Explore topics in this discussion:

Surgery Hemangioma Hemihypertrophy Pregnancy Fever Glaucoma Rare diseases Stress

42 replies

KimberlyD0

We had Karrigans appointment with the genetasist yesterday. It went well. Karrigan must be getting used to all the doctors, they poked and proded her and she didn't make a peep.

The genetasist was saying she had just seen a case of CMTC about 2 months ago where the little one had it all the way up the one side to the top of their abdomen. She said she was suprised to see 2 cases so close.

They did a full body exam. Her 2 middle toes are slightly grown together, the webbing between the toes and fingers is slightly bigger then normal, she has the noticable vains from the tip of her baby toe, all the way to the top of her bum, looks like a small patch between her eyes, and at the base of her skull. Those she said she wasn't quiet sure about.

She wants Karrigans hearing tested, she isn't responding like she should and doesn't seem to notice some noise.
Her eye's checked every 6 months to watch for glacoma.
Her leg ultrasound
her head ultrasound
A kidney ultrasound every 3 months to watch for tumers.
and an MRI at about a year.

So they're trying to make arrangments to have all the test done at once because they all have to be done at CHEO and its a 5 hour bus trip. We're going to be going to CHEO a lot in the next 15-16 years.

KimberlyD0

Wanted to update everyone. We finally have an appointment with a genetasist. Its been set for Feb 11 at 9:30am.

I just hope this means we can get some answers.

LexVanDerHeijden

Thank you for sharing your story with us!
May I publish this story in our world wide CMTC newsletter? If I may do you have some pictures of your son at the beginning and now (for instance of the legs)?
Thank you.

tkech

I am new to this group, having found the link on Wikipedia. My compliments to whoever created the article - it did not exist before 2006 when I first searched there.

I encourage the original poster to focus on the orthopedist and what can be done for your daughter's legs. Beyond the CMTC, I think it's a question of treating the symptoms and taking whatever action is necessary to be sure her legs serve her well.

I do not have hard-won advice to offer to those with serious complications - I just want to share our experience in case it can give someone hope for their outcome for a child with marked extremities only.


Here's our story:

My son was referred for diagnosis ( CMTC ) immediately after his birth in 1987, because our pediatrician had fortunately interned with a dermatologist at the University of Miami and recognized the severity of what I believed was "just a birthmark". One of his legs was deeply marked with patches and lines so dark they were black, and a patch on his buttock. His leg was definitely less "fleshy" where the marking occurred, almost "wizened".

The University of Miami dermatology center pronounced him fine due to the locations and depth of the markings (not on his face, skull, trunk or anywhere vulnerable to blood flow deprivation that could suffer serious harm) and provided us with photocopies from a textbook describing the condition. They requested that we return when he was five years old. The doctor/professor also called every doctor in the building in to see my son's leg and press his hemangiomas, so that they would have the rare opportunity of seeing CMTC. He stated it was only the third case he'd seen himself in the 12 years he'd been there.

Of course, I had idiots come up to me in stores and ask if I had left my son in his swing too long, or if I had drawn on him with a black magic marker. I told them "he came that way."

We had an alarm when at four months my son began crawling only on his marked knee and using the foot of his unmarked leg. The pediatrician immediately referred us to an orthopedist, but the x-rays he ordered showed normal leg development. Evidently some normal babies do this, too. He later started crawling normally.

At a year old, another alarm occurred when he cried so hard he passed out. Again, our pediatrician took this seriously and referred us to a neurologist, who tested him and pronounced him fine. A few repeats determined the cause - it only happened if he missed a nap.

We did return to the University when he was five (1992), but they informed us then that laser treatment could not improve the appearance.

He eventually developed normal tissue underneath the markings, and they gradually faded over time. He wore shorts to school (Florida) and he never complained of being teased about it. My son had classic ADHD (no link to the CMTC), so it's possible his behaviour issues in school may have eclipsed the birthmark.

As he got older, I told him the story of a friend. Scars from a car accident had left jagged scars - so if someone had the bad manners to inquire, he'd claim he was attacked by a shark. This sharply intrigues people, and then pointing out it's a joke makes them feel properly foolish for asking. My son used it a few times in his teens when he moved to new schools.

The good news: today he is 21 and has only faint staining on his leg, which most people would assume was a light port wine. He has no body abnormalities as a result of the CMTC and is in good physical health.

I hope that our story encourages parents of kids who only have extremities marked by CMTC. I realise that many of you are dealing with far more severe situations, and I extend my love and deepest sympathy to all of you. I hope solutions are found for your children to give them the best possible outcome.

LexVanDerHeijden

Great to see that more and more people are joining this forum! A special thanks to my friend Ed!

I intend to be in the USA again from the 15th up to and including the 19th of July in Maryland (North Bethesda). This also depends on my vacation which I've not planned yet.
Indeed I'm not a doctor but a Project Manager in the ICT business.

Regarding the medical examination we arrange Dr. Maurice van Steensel, who works in the Academic Hospital in Maastricht (south east of the NL) and, depending on the complications, a number of other medical specialists.
From the beginning of January 2009 a new person will be involved in these examinations hopefully (depending on availability) who is doing her promotion on vascular malformations (she is working eg. with Prof. dr. van der Horst as well).

Regarding the question of having more than one child with CMTC in a family: this change is rather low. Sofar I've seen one child per family with CMTC.

momoflily

From what I've read of the literature, no one's quite sure what causes CMTC, but that only in very, very rare cases has it been seen to occur multiple times in a family. And even that observation is in dispute with some question as to whether the cases in the same family are truly CMTC or something related instead.

Some studies speculate that it's a genetic trait that is passed on but rarely produces symptoms of CMTC (an autosomal dominant inheritance pattern with low penetration). Others feel that it's a more random mutation, since it is so rarely seen multiple times in the same family, even over generations.

Personally, I can't recall running across any families in which more than one child has CMTC, but I'm sure others out there know more than I do on all of this -- just a summary of what I've read to date. I think your chances of your third child having CMTC are exceptionally low.

KimberlyD0

We've just found out we're unexpectedly expecting baby #3 in August. Does anyone know my chances of having another baby with CMTC? or if there is anything I can do to avoid that happening?

RachBen

We would love to come to the yearly CMTC get together, when you know when it will be please let me know!

Charity1

Thanks Grandp Ed. I thought I had read somewhere that Lex was not a Dr. or maybe I just got that impression. Keep me posted when the big CMTC get together is, I am sure we would try to go.

ednbec

Lex works with several Doctors in the Netherlands, but is not a doctor himself. I'm sure at some point he will add to this but for now I will try and answer as much as I can.

I believe it depends on what other conditions might be with your case of CMTC as to which Doctors you will see. I have heard of different cases seeing different Doctors. When we went we saw Dr. van Steensel at the hospital in Maastricht in the Southern part of The Netherlands near the Germany and Belgium borders. Although Dr. van Steensel headed up the exam, we had several other Doctors including a neurologist on hand. We had sent all Ellayna's records months in advance and from those he chose who to have present. I think Lisa told me when Van goes next April he will be seeing Dr. van Steensel as well.

As for Lex coming to the USA, he comes every summer usually in July to Maryland. He attends genetic conventions while there, meets with Congressmen and lobbies our causes. He will meet with us while there too, and this past summer we had members as far away as California come for our meeting. We used a room at the Genetics convention for an afternoon and was brought up to speed on the latest news regarding CMTC and associated research and findings. It was a great time and I'm looking forward to going back. He does not do exams himself, but as with most of us who deal with CMTC we can help identify it for those without a confirmation already.

As far as coming to Canada, I'm not sure if he does, but he does travel for a big company. I would say if in your area for them, and having the time, he is the type to make a way to see you.

Grandpa Ed

KimberlyD0

I'd love to know if he comes to Canada? Specially Ontario :)

Charity1

Does anyone know when Lex comes to the US? And what he does when here? My husband was wondering if we could meet up with him while he is here and talk with him an get an exam?

KimberlyD0

If you want to do that trip where is it that you are going to exactly? what doctor do you see?

Can you give me any info about it? I would like to eventually find away to get there.

ednbec

We went two years ago this coming March. We had decided as a family to all go in support of Ellayna and her father, our son. We checked into free tickets at first, and yes even found 2 free via the airline, But since there was 5 of us going in all there was no way to assure we could purchase a ticket far enough ahead to keep the cost down, and still be on the same flight that the airline would provide the free tickets for. So I purchased round trip tickets on Expedia.Com which had the best deal at that time. It was on Delta Airlines and we had one connecting flight each way over and back. We were 4 adults and a then 2 1/2 year old. They charged the same for all 5 tickets, around $700 apiece for round trip tickets. We stayed 7 days total, right before the tourist season. A month later and the tickets was almost double the price. We flew from Columbus Ohio to New York, then connected onto Amsterdam. Then reverse on the way back.

The people of our hometown held fundraisers to completely cover the cost of the flight and our stay and meals there.

Hope some of this helped, I just enjoy talking about the trip. Lex was a great host and I can not brag about him enough, lol.

Grandpa Ed

RachBen

I was just wondering for those that have gone to the Netherlands, how did you go about getting tickets? It sounded like sometimes they will give 2 airfares and just want to know how to go about it. Thanks!!

LexVanDerHeijden

During our annual meeting in November this year in the Netherlands the question was also raised when you should act in case of leg length differences. The answer will be given in the CMTC newsletter of January 2009 which contains the report. I'll also incorporate this question in the FAQ's list I'm working on.
In the Academic Medical Center in Amsterdam they have quite some experience with this type of surgery but it turns out that the outcome is hard to predict.

KimberlyD0

It is nice to know someone understands. People just don't get it, not their fault but still.

I got as letter in the mail today, we're on the list for genetics. Should be about 8-10 weeks.

ednbec

It's good to see this group so active lately. We do go through some dry times when there isn't much discussion, and we all start to feeling alone again. Thank you all for renewing my spirits as our family here continues to grow.

In regards to fundraising, the easiest way to start is with the Readers Digest Fundraiser web site. If you go to Ellayna's home page at http://www.gallisministries.truepath.com/ellayna.html and scroll down a bit you will come across her RD Fundraiser. It costs nothing to set up, they send you a check in the mail each month someone buys from your site. They save up to 85% off the news stand price, and you get 40% of what they spend. It also lets you send out group emails to your friends and invite them to come and buy from you. To sign up click on her link, go to the bottom of their page and click "On Line Fundraising".

I will warn you though, some people do very well with this, we have not. Guess our friends don't read, just kidding, but they do give when we pass the hat around here and lately thats been quite often.

We have held concerts, had cookouts, had parties at a fitness center, held auctions with donated items and a karaoke party just to name a few. In all we have raised several thousand dollars towards Ellayna's medical travels. There is never enough, but every extra dollar helps.

If others have fund raiser ideas, please share them as we are always looking for ways to meet the cost of getting to appointments.

Sadly we live in a corporate world that can be cold, but helping children is a personal blessing. Usually when people see a child in need they will not turn their backs. Most have family of their own and would want the same if they were in the same situation.

Grandpa Ed

Charity1

I was told about that same procedure from our orthopidic Dr. Right now Reese's legs are not that much different and have never been so luckly I don't think we would need to do that. But who knows it could change. I know that the medical cost for all of these appointments gets costly! We are fortunate that we do not have to travel far but all the copays for insurance and then the bill that follows add up. I think Grandpa Ed has done fundraising, you should check out what he has done. Anyway I hope you have a great day.

momoflily

Our daughter is just now 6 months old and she also has been diagnosed with CMTC with some features of KTS. She has the blue mottling on her left hand and arm, a little on her left chest, then left waist down through parts of her leg. She, too has a smaller leg on the affected side (smaller in girth and slightly shorter at this point). She had the full-body MRI/MRA done a couple of months ago and it showed no involvement of her brain or internal organs--it was well worth the stress to have that reassurance, though like an earlier poster we may need to have that repeated in a few years to make sure all's still okay.

Currently our daughter is lucky to have a wonderful pediatrician who devours all of the information I provide about CMTC and KTS as well as doing his own research on her conditions to make sure he's providing the best care he can as the doctor she sees most regularly. We've also been lucky that Lily's also been healthy except for a cold this last week that everyone in the house had, and is not currently bothered by any discomfort from her condition. We also take her to a pediatric dermatology practice and they recommended that once she's walking (gravity plays a big role in a lot of the effects of vascular conditions from my reading) we also meet with the pediatric orthopedists to determine what may be necessary in the way of shoe inserts or possible LLD surgery in the future. Guess we'll cross those bridges when we come to them.

As you mentioned, Kimberly, I think the most difficult part is dealing with the unknown. We all want to be able to make our children's lives perfect, and I think it's even harder when you aren't sure what you're planning for and dealing with something you can't fix. I try to just learn as much as I can and trust my instincts and learn a lot from other parents and people who've already been down these roads. I'd also recommend www.cmtc.nl and www.birthmark.org which have both provided me with a lot of very useful information. Best wishes to you and Karrigan!

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