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-   -   Klippel-Trenaunay - How important is diagnosis? (http://birthmark.org/board/showthread.php?t=1535)

Liesbeth 08-08-2005 11:48 PM

Klippel-Trenaunay - How important is diagnosis?
 
Hi everyone,

My compliments about this site. Wish I had started looking for it earlier! Well, here we go: my 18-month old daughter was born with a port-wine stain covering her right foot, leg and buttock. She's had two treatments with Pulsed-Dye Laser under general anaestesia (at 6 and 12 months) to try to fade the stain, with 0 results. We have been seeing a very well-reputed dermatologist at the SD Children's Hospital. He is very eager to do PDL surgery. He insists that our daughter does not have any of the PWS-related syndromes as there are no "lumpy-bumpies" or swellings. However, I've always felt that there's more going on than just the superficial staining. For one, her affected leg is increasingly showing to be thinner than the other. She limps a little, even though she's been walking for 6 months now, and walks well, otherwise. Then last week an electronic measuring machine at the shoe store showed her right foot is a full 6mm smaller than the other. I was in shock!! We're supposed to return to the dermatologist this month to see about a 3rd PDL treatment. After the 2nd treatment the dermatologist said we could get X-rays made of both legs if we continue to be concerned. I am really thinking she has Klippel-Trenaunay syndrome, the atrophy kind. I'm at a loss of what to do, where to go, how to make sure we're doing the right thing. I don't even know how important it is to know if it is KTS or not, and how do we find out?? Is having X-rays made a good idea? Should we find a different specialist, and if so, who? I am open to any type of advice you can give me and am very interested in your experience.

Liesbeth


alexasmommy 08-09-2005 07:49 AM

Re: Klippel-Trenaunay - How important is diagnosis?
 
Hi. Welcome. My daughter has a facial pws . I know a Mom whose daughter has KT and I am going to try to contact her. I am sure that she can answer all your questions. Are you near Boston? I would definately reccommend that you try to find a Vascular ABnormalities clinic. I can only tell you to follow your instinct. If you feel that something is not quite right, then you need to follow up and see if you are right. You will not have any form of piece of mind until you feel that you have answers and that you have done all that you can for your little one.
Good luck.........
Elena

juliemn 08-10-2005 08:46 AM

Re: Klippel-Trenaunay - How important is diagnosis?
 
Hi Liesbeth,

First of all, welcome.* You have valid concerns about your little girl.* I would definitely seek out a doctor that can either diagnose or clear her of KT.* I'm not sure where you are in SD, but right next door in Minnesota there is a doctor at the Mayo Clinic that works with KT patients.

I know there is sometimes special circumstances with KT affected people that make laser therapy unadvisable.* I'm working on memory of something I've read, but I believe it has something to do with infection and/or cellulitis?* Someone here could probably clarify this better, or I could do a little digging for you.*

Check out these information links.* There, of course is info here at the VBF site, and then there is info here also:
http://www.sturge-weber.com/aboutkt.htm
http://www.k-t.org (Minnesota based support group)
http://ktfoundation.org

Good luck to you!

Julie
(mom to Ben)
jshiggins@earthlink.net
http://home.earthlink.net/~jshiggins/index.html

Liesbeth 08-10-2005 03:03 PM

Re: Klippel-Trenaunay - How important is diagnosis?
 
Hi Elena and Julie & everyone else,

Thanks much for your replies. I am very moved by your offers to help us! It is heartwarming to get these responses and be able to talk at a "normal" level about our case of PWS, instead of having to downplay it. I also heard a lot of the well-meant "just wait it will fade with time" from people. One mom in the zoo almost attacked me because she thought my daughter's leg was caught in the back carrier. I guess the fact that she was smiling and sitting happily was not enough to show she was fine :).

We are in the San Diego area, so not really next door to Boston or Minnesota. I do have the feeling I should see someone who is really familiar with KT because if she has it (which I still really think), she has the much rarer atrophy type. In most descriptions of KT you don't even read about this possibility. I think it is the same as what that golf player Casey Martin has.

Now I am mostly debating who to see next. After reading so many posts and websites, I am thinking it may be worth the trip and go see the experts who really know KTS, instead of hoping that our local dermatologist will look through his books again after our repeated visits.

Yes Julie, I am also thinking I do not want to continue PDL therapy unless we know for sure it is the right thing to do. I guess I don't need to tell you what it feels like to put you baby through those surgeries and then have the dermatologist tell you with a smile "Yep! No results at all!" I get very bitter and am amazed that so many people here are nonetheless upbeat and have time to reply to others when they have so much to deal with themselves. I guess I'm just at the angry/worried-sick stage where you feel so confused/misunderstood and are at a loss of what to do next.

Now before we may schedule again with the dermatologist I have scheduled to see a new GP next week and see if anything comes out of that. Hopefully by then I will have some names of people the GP can refer us to!

Liesbeth

juliemn 08-10-2005 03:27 PM

Re: Klippel-Trenaunay - How important is diagnosis?
 
Oops! You said SD, and I assumed South Dakota. LOL

You probably have a lot more options in your area. Check the listings here on the find a doctor page, maybe you'll find someone close who's either familiar or knows someone who is.

The worried feeling never really goes away, but it does subside when you have more questions answered. For me, information is calming.

When and if you do continue laser treatment, you might want to keep in mind that limbs are notorious for being stubborn.

Julie

powerfulgazelle 08-10-2005 07:30 PM

Re: Klippel-Trenaunay - How important is diagnosis?
 
Liesbeth,

Hi on Wed.

Yes, I would be concerned about getting a clearer dx. for your daughter’s leg, given the description you gave of the extent of the capillary malformation/PWS.

Our daughter has much less extensive PWS (confined only to her calf area of her affected leg), but has had issues with what appears to be a lymphatic malformation component (tiny vesicles over her PWS and two episodes of cellulitis in the leg from minor breaks in the skin), as well as some growth difference (1.5 shoe size smaller on the affected side), pain/limping/weakness in her leg. She does not have any venous component that we are aware of. She had the lower half of her affected leg imaged with MRI after the first episode of cellulitis. We have been told a range of names for her dx---from KT to “not exactly KT” to “KT spectrum” to “combined capillary-lymphatic malformation”. Our regular pediatrician originally called it a hemangioma, then CMTC…

There are other “issues” which can arise with combined malformations---infection, pain, etc., so worth looking into.

An excellent site for info on kids with a variety of vascular anomalies is the Cincinnati Children’s Hospital Med Ctr’s vascular malformation clinic site. (This is where our daughter is seen. BTW, Dr. Denise Adams there---and the rest of the team too---is fabulous.) Check out the recommendations for consultation as well as the info on different types of vascular malformations.

The site is: http://www.cincinnatichildrens.org/s...ha/h/vascular/

I rarely get a chance to check this board, so feel free to email me if I can help, at cmontefiore@help4seniors.org.

BTW, our daughter, Mimi, is just a little older than yours---Mimi is 28 mos.

Peace,
Christine

Liesbeth 08-12-2005 03:56 PM

Re: Klippel-Trenaunay - How important is diagnosis?
 
Hi Christine & others,

Thank you very much for your reply. Your input is very helpful. The description of your daughter's condition does sound quite similar to that of our daughter Fenna. The website you recommended is really excellent. I don't know if there's a direct link to it on the VBF site already - their Conditions and Diagnoses list may be very helpful to other, still searching parents, too (http://www.cincinnatichildrens.org/s...ha/h/vascular/).

I had never heard of CMTC before and it sounds like another plausible condition Fenna may have. Fenna's PWS is also marbled and my husband and I are actually thinking the stain may have lightened somewhat compared to how it looked for the first few months of her life. But it was winter then and we lived in a fairly cold house, too (which could have made the stain appear darker). It is hard to say.

Fortunately for us, we have had very few complications so far. At what age did Mimi's complications start? Did you find it easy to recognize that she was in pain and that her leg was bothering her? What symptoms did she have? Our most painful episodes seem to have been the PDL treatments. The last treatment actually burned holes in her diaper area - I'd advise anybody to leave out the diaper area when the doc is still trying for the right laser strength! But I have to say Fenna has been a real trooper and even took her first steps on the afternoon of her second treatment :). I never get the feeling that her leg is actually bothering her. Like I said she does have the slight limp and she also still falls a lot when she walks. Another thing we ignored but will look into again is that her pelvis was somewhat bent/crooked at birth. We thought/were told it was because of her position in the womb and that it would go away with time which it did (in about 12 months). It is not really visible anymore now.

Sorry for all the details I'm venting (this is my first time on a forum and am not sure if I'm violating some behavioral rule :))
Anyway, I am hesitating between seeing a new GP, seeing the dermatologist again, or just calling up the Cincinnati Children's Hospital vascular malformation clinic directly, although I am afraid they won't help me on the phone. Do I need a referal first? Does anyone have experience with cold-calling specialists/experts? Christine, do you think maybe it would be a good idea if I called Mimi's doctor?

Thanks again for all your help - sorry for the long-windedness,

Liesbeth

juliemn 08-12-2005 06:38 PM

Re: Klippel-Trenaunay - How important is diagnosis?
 
This is a tough one.

Finding the right pediatrician can be hard. I found a good one by accident...an ad on the clinic hold line. LOL And still wish that she would be more active in Ben's treatment. However, I tend to just take over the situation...so I can be intimidating too.

If you're not on the same page with your dermatologist, I would start searching for a second opinion. If they're sure about their diagnosis, they may not be any help to you in your pursuit of a specialist. I'd go with your "Mommy gut" here. The best doctors will say that the parent's gut feeling is one of the best gauges of how to proceed.

When I started contacting the specialists, I was a bit intimidated too. I just keep reminding myself that they're just people who happen to be really good at what they do. I think most clinics will just take an appointment, but sometimes having your GP make the introduction will move it along faster. I also depends on your insurance coverage. If you want the same benefits that you receive at home, you'll probably need to get a referral (and insurance approval) from a local doctor to have full coverage.

I've been trying to get a clear diagnosis for 2 years now, and hopefully we're just about to go over the hump and start seeing some action. For us it took numerous visits to many different specialty doctors; dermatologist, plastic surgeon, neurosurgeon, ENT, geneticist, neuroradiologist, and probably some others I can't remember. And, of course, the first one you see is usually NOT the one you'll continue with. In the end...after all this time...they finally agree with Mom. We need to go to a specialty clinic. Think of all the insurance money wasted? Well, not entirely. We've found the best near home, and will continue treatment here for as much of it as we can.

I've found that when it comes to specialty clinics that are far from home, they will have some sort of protocol for out of state patients. Very few can afford to fly across the country for an office visit. I know I can't...LOL. It's frustrating though, as it would be the easiest thing to do for answers. I've been looking at two vascular clinics myself, and I'm getting so tired of waiting that I'm ready to call in the families' air miles and just hop over there to talk to SOMEONE!!! (My own vent...oops.)

Good Luck!! I certainly don't write to discourage....just to let you know I feel your frustration.

Julie

Vette 08-13-2013 10:47 PM

Hi There,

Looking for doctors familiar with kt in San Diego. Did you ever find helpful doctors in town? I am an adult female with kt and I am having a lot of issues due to length discrepancy. Hope to hear from you.


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