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CMTC

KimberlyD0
0 Recommendations

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

pepper1

http://www.emedicine.com/derm/TOPIC793.HTM

KimberlyD0

I posted this in another post but thought I should post here too.

I've been to all those pages you sent before. Thank you. That is about the extent of what I could find.

We have an appointment to see an orthapedic pediatrition on Fri Morning at Childrens Hospital of Eastern Ontario (CHEO we leave Thursday) in regards to her right leg being so much smaller. Its about an inch smaller around and 2 inches shorter.

Her pediatrition kind of waves off my concerns, I think more because she doesn't really know the condition. It took her 2 weeks to find it and she admitted she doesn't know much. None of the doctors here seem worried, yet they all exclaim "what happend to her leg?" when they first see it.

Are there other speciallists I should try to see? What questions should I ask? Tests I should push for?

I've read a lot online, but there isn't really a lot of in depth information I could find.
Also she's been sick several times in the last 5 months. She's had RSV and was hospitalised for some illness they never determined. One where she had a fever (103) and was throwing up everything. Could these be connected to the CMTC?

LexVanDerHeijden

Dear Kimberly,

Please follow your instinct/feelings and realise that hardly any doctor knows something about CMTC.
At this moment there are approx 6000-7000 rare diseases, CMTC is one of them, so you can not expect always that any doctor is able to make the right diagosis.

We offer our members a free medical examination in the Netherlands. Members from all over the world (eg. USA, Canada, Australia, Greece, UK, Norway, etc.) have experienced this.
I suggest that you become member so I can first of all connect you to eg. Canadian members (lloks you are in Canada) who have been here and secondly we can try to get you over here.

KimberlyD0

Thats the thing. My instincts and my mothers actually, have been going off for month. Even before she was born we both had a really bad vibe, for lack of a better way to say it.

Thing is neither of knows what we're worried about. I personally just hate not knowing, kwim?

Not sure where I need to become member for that medical exame. Though to be honest, with our income I doubt we would ever make it there. Its been a challenge just getting money to go to Ottawa.

I would love to find more Canadians who have experience with this as well. Please just let me know where to join.

ednbec

Hello Kimberly,
Grandpa Ed here from the yahoo group. Lex is a good honest man and will help in any way he can. We've made that trip to the Netherlands almost two years ago, and yes it's expensive. We held fundraisers to help us out as we're down here in the States with this bad economy. There are ways to get possibly 2 free tickets for medical purposes. Lex can give you the sources for that. The trip is well worth the peace of mind knowing that you have seen the best there is for CMTC. They can also let you know if there is something else with it that needs attention. Keep in mind that for now there is no cure for CMTC anywhere, just good managed care and at this point that means a lot. Good luck Friday and let us know how it works out. Ed

RachBen

Hi Kimberly,

I live in Alberta and our daughter is 9 months old and also has CMTC. When she was born she had purple markings on her right leg, arm and alittle on her head. We've seen various specialists, dermatologist, ophthamologist, genetisist, she also had a MRI in july to ensure her brain was growing normal. She also has less muscle on her right leg & arm, but her leg and arm have lightened considerably and it's only really noticable when she's cold. We've been told we just have to monitor her while she grows and have yearly checkups with the dermatologist and eye doctor. It's frustrating though not having alot of info on this condition and what are the chances of this happening in another pregnancy. If you have any questions, please let me know.

ednbec

I rereading your post Kimberly I noticed that the web address of the CMTC Organization in the Netherlands was never given. It can be found at http://www.cmtc.nl/HTML/eng_start.php and has great information on it's pages.

As I said on my Yahoo reply, keep in mind there is no typical case of CMTC. Each one has unique equations that need addressed. One is to determine if the one limb has undergrowth (Atrophy) or is the other having overgrowth (Hypertrophy). Each comes with it's own set of complicatons. If it's Hemihypertrophy is it isolated or part of another syndrome such as BWS. Many of us have taken the safer route when it comes to overgrowth syndromes and follow the BWS protocols for tumor screenings as there is a risk of Wilms tumors with this type of overgrowth. It involves AFP blood draws every 6 weeks to age 4 to monitor a rise in the AFP levels (a precurser to Wilms) and a renal scan (kidneys,bladder,Liver) every 3 months as this is the area Wilms occure. It is also a fast growing tumor with a very successful recovery survivablity rate when caught early. Glaucoma is another screening that needs done at least twice a year. As stated in the yahoo post, anywhere there is marbling and dark marks there is a chance of underlying blood vessel issues. Hemangioma's can develope under these and case problems later.

These remarks are not meant to scare you, just make you arware that CMTC is more than a birthmark. The markings alone are not really an issue, but the sometimes associated syndromes that cause the problems are. You are this childs first line of defense. Follow your "gut" feelings, your mothers instincts. If something does not set just right with you, follow up on it.

Ed

JAG2004

I also live in Canada so please feel free to connect with me. I have recently been to the Netherlands with my 18mos old son who also was diagnosed with CMTC.

Thanks for reaching out,

Jodi

KimberlyD0

Thank you everyone. Its nice to know that I am not alone.

To be honest though all I get from everyone, doctors and all is that its no big deal and that I am over reacting. Its rather frustrating at times.

We just got home from CHEO and I can't help but feel like it was a waist of time and of money we just don't have. My MIL had to fund the entire trip basically. Its really hard when one income is gone.

We saw an Orthopedic doctor there. He basically took a look at her, the appoinment lasted maybe 5 minutes and we were told there was nothing to do that day. That she was to young/small. Well they knew how small and young she was when they set the appointment, why didn't they wait. I know its not his fault, but I am starting to get frustrated. He wants us to come back in 6 months and then he said he would take a look and see if it needed to go any further. He didn't even take messurments or anything though so I am not sure how he'll be able to do a comparison.

I brought him some print outs about CMTC and what it is what can happen. Basically he read it over and said that she'd be fine since most are. Well of course I hope he's right, but what if he's wrong is all I can think.

On the more positive side, he is going to put a referal in to see a genetasist, which he said would be about 3-6 months. Not sure yet how we'll find that one, but we'll find a way. Lots of travel in the furture it seems. At least in May I go back to work which will help. Not sure how they'll take me having to travel so much for this though.

Sorry to rant at you guys.. thanks for the support though it really does help.

ednbec

Kimberly,

Trust me when I tell you this trip was more successful than you think. You went in prepared, a little more than the Doc and that gives you the edge. This is how life with CMTC is, you will be far ahead of most people in the medical field when it comes to this syndrome. You managed to get a referral to a geneticist and thats a major step. That says yes it's important enough to warrant another opinion in that Doctors eyes. It may not seem like it, but baby steps first. We touch Doctors one at a time here, and some never catch on. I see the trip as a milestone, celebrate, this trip was not a waste.

Grandpa Ed

Charity1

Hello,
My daughter is 2.5 years and also has CMTC, I understand what you are going through. You have to trust your motherly instinct. So far my daughter has had no major complications or issues. We had an MRI on her brain when she was a baby and are getting ready for anther one. The first one came out fine, but her dermotologist wanted to do another one just to make sure nothing has changed. You are not alone out there, I know it feels like it at times. Feel free to contact me anytime.

LexVanDerHeijden

I'm working on a FAQ's list which contains many questions I've collected over time. This list needs to be reviewed by our medical advisors and will be published in the public area. We are currently preparing the website for this list.
Hopefully we'll have this list available somewhere in January 2009 I hope. As soon as this list is available I'll inform the CMTC members and doctors we are dealing with. We need YOU to distribute this list to our (local) doctors.

Charity1

That would be great! I will be more than happy to hand out to all our Dr.s and more if needed.

KimberlyD0

I would love to hand them out too. I think more need to know about it.

I was going to join what you suggested, but I can't. Saddly I can't aford to at this time. Hopefully when I go back to work I can, we just have no extra funds right now. I thank my lucky stars I am in Canada and don't have to pay for medical appointments, tests, and treatments for this. We couldn't do it. It sounds like there may be lots of info there that might help me a bit.

JAG2004

Hi there;
Grandpa Ed is very supportive to caregivers of children with CMTC. Lex is a fabulous resource as well. Here in Canada we do have lots of funding options if we travel in Canada. Variety Club, Shriners, Hope Air are just a few outfits that cover travel costs for children's appts with specialists. It is very frustrating as no one really knows anything about our babes condition. Please feel free to ask specific questions as we are all in this togther.

Jodi, Vernon, BC

KimberlyD0

Karrigan has her post trip pediatrition appointment today.

According to her mesurments Karrigans leg difference has gotten a little smaller. About 1/2 a centimeter, but still smaller. I'm just hoping its not an error in mesurment.

She was not impressed when I told her the Orthapedic doctor didn't even mesure or take an X-Ray so she had one done today. Soon we'll know the exact difference in length :)

I also told her about the new info I found. I even printed up a bunch of info and brought it too her. She was happy I brought it.

She told me she's put a referal in for a genetacist. They're in town Dec 15-19 so we're hoping we'll get in then to see them. They may have more answers. She recomended I bring the same information to them that I did her.

She's really working with me. Makes me feel a whole lot better.

ednbec

These LLD or leg length discrepancies tend to see-saw a bit in reading. As the child has growth spurts the longer one tends to really show it first then the shorter catches up somewhat. If the length issue is only in one leg then the rule of thumb (not always correct though) is what ever the overall percentage difference is, then that will usually remain constant during developement. In our case we have one leg with over growth (hypertrophy) and one with undergrowth (atrophy) so the difference is major and will continue to change the percentages. There is a proceedure where they will monitor the childs LLD and right before the final growth spurt at puberty they will stop the growth plate in the longer leg allowing the shorter to catch up, then during adulthood the LLD will almost be non existant. It's important to monitor the growth cycles and plot the corrrect time for this proceedure.

Grandpa Ed

KimberlyD0

The procedure you mentioned is the same one the Orthopidic was telling me about. Seemed strait forward enough.
He was telling me if it was more then 3CM (which currently it is 6cm) then they would do that when she was about 15-16 years old.

He has me coming back yearly, I guess thats to see how the growth is on average right? I'm a tad confused.. plus thats a lot of $300+ for travel a year we don't have.. yikes!

Will it be 14-15 years before I know that something can be done then?

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