With Klippel-Trenaunay, it can be pretty evident early on that something is a little different here. Maybe it's the "birthmark". Or the huge limb. This is a condition that is so incredibly individualized and so rare that two people are not likely to have the exact same experience. Some children have a series of surgeries and procedures in their first years of life, others go on as normal. Regardless of "how bad" a person has KT though, it is a condition not to be taken lightly, and an accurate diagnosis as early as possible is a good thing. Knowing exactly how far KT extends, whether it impacts internal organs and the lymphatic system, is it the relatively slow-flowing Klippel-Trenaunay or the fast-flowing Parkes-Weber Syndrome. Or maybe it's the recent "discovery" CLOVES syndrome? Of course it's only "recent" to the doctors, parents have known things are different for years. And that is something that will be one of the most difficult problems to overcome on this journey: trusting your doctors vs. trusting your instincts (and later your child's/family member's instincts). Just because a doctor doesn't know about it or doesn't believe in it doesn't mean it doesn't exist!
So, trying to find a doctor who can diagnose what you see going on isn't as easy as it seems...or should be. Because there are no tests to prove whether a person has or doesn't have KT, it's a diagnosis of exclusion and observation. And that depends on the experience of the doctor and how willing s/he is to open his/her mind.
More often than not, we have doctors asking us what's going on with Pete. Just three weeks ago a doctor seeing Pete while his regular doctor was on holiday walked in the room, looked at him and said "what is this?" When we told her she laughed and said it must be one of those things that got maybe two sentences in her medical books and she would go back and look into it. That, sadly, is more often than not the scenario. Rather than a doctor coming in and saying, "oh, you must have Klippel-Trenaunay Syndrome!" we're greeted by a doctor who takes a looooong look at Pete and then asks, "what happened to you?" Not the grounds for confidence since the doctor is supposed to be the expert in medical situations.
Getting a solid diagnosis is a good idea for many reasons. Obviously getting proper treatment would be near the top of the list. Insurance or social security might also be high on the list since this isn't going to be cheap. Sorry, but...MRIs, CT-scans, surgeries, sclerotherapy, debulking, debridement, antibiotics, wound care, compression garments, Complete Decongestive Therapy (CDT), shoe lifts, wheelchairs, house renovations (for the wheelchair), a vehicle that can carry the wheelchair, trips across the country to see someone who actually knows what's going on and more medical appointments than an average human has in a lifetime kinda gets expensive. And yes, I am definitely biased about this and am a strong supporter of any medical plan (including the ACA) that would take care of people who can't afford it since I can't imagine why anyone would willingly deny any human, especially a small child needing medical care, the treatment that can save its life or make life more bearable.
But, now the question is...how do you find the magical doctor who can look at a person and know what's going on? Ha ha ha, wouldn't that be lovely? While I don't have all the answers or even very many of them in this instance, I can try to point you in the right direction. Maybe. Hopefully. Awwww, who knows?
Start off with support groups. Okay...I don't really like support groups because there often is more of an emphasis on raising money than actually helping people. It's easy for support groups to forget that all it takes is time to help another person, money is nice but many people just want to know that they're not alone and some ideas on where to go next since they feel their world is falling apart. That's free. Yes, money to help pay for treatment for those who can't afford it is essential. Money to keep the group running is vital. But they can forget that in the early days the support group was just a bunch of individuals talking via e-mail sharing their stories and giving each other encouragement. And don't get me started on advocacy. It's a long, hard road and I think one of the first things any support group should encourage is for everyone touched by the condition to start making a lot of noise and talking about life with the condition. Which, a lot of support groups aren't organised on and subsequently don't really go anywhere in general. So no, I'm not crazy about support groups in general but maybe you can find one that works for you. Having said that, I do feel fairly confident in recommending the Klippel-Trenaunay (KT) Support Group. My husband has received a lot of support, kindness, guidance and information from them.
In the real world, here are a few good places to start...internists, vascular doctors, vascular anomoly centers, teaching/university hospitals, lymphedema therapists, vein specialists (although I wouldn't be too confident of vein clinics...but you never know) and children's hospitals. More hospitals these days have online listings for their doctors. Some doctors list their interests and specialties on their bios. Don't just look for "Klippel-Trenaunay Syndrome", look for "congenital venous malformations" and "vascular anomolies". We all know about Mayo, Boston Children's Hospital and other "major" hospitals, but you may find a gem nearby...saving you travel fare and exhaustion.
Don't be afraid to ask! Set up a day to call your potential doctor, have a list of questions. The first one should be "does Dr ___ treat Klippel-Trenaunay Syndrome?" or "Is Dr ___ familiar with something called Klippel-Trenaunay Syndrome?" if they say "yes" then ask how many patients he is currently treating or has treated with it. Don't be afraid to ask for a phone or free consult with the doctor, the worst they can say is "no". Remember, you're looking for someone who is going to be able to guide you along this lifelong path. Also remember it's going to be expensive. So why waste your money on a doctor who is going to be clueless and unable to help you? I may have mentioned, Pete was initially given the push to go to a vascular doctor by my physician, a DO family physician. He looked at Pete and said "there's something going on with you, maybe Sturge-Weber or something, I can't be sure since it's not my specialty but a guy I was in school with sure would know. Here's his name..." and within a week he'd arranged an appointment with the doctor who diagnosed Pete. It was the only time that a doctor looked at Pete and had a clue what was going on.
When you go to see the doctor, have as much information as possible. Maybe you're an emotional type, I am. It takes all the strength I possess sometimes to just not break down in tears in a doctor's office. If you have photographs showing what you mean, bring them. If you have medical records of treatment, bring copies. Write down any inconsistencies that you see in your affected loved one. If you've measured the lengths of limbs or circumference, keep those on you. Doctors currently believe that KT isn't hereditary ~ although many of us who have KT family members see vascular disease/conditions in other family members. See if you have any family history that may narrow down a diagnosis for you. Remember, KT is a diagnosis of ruling other things out and seeing what you do have. It can seem like a no-brainer but some doctors want to be very thorough.
When you're ending your visit with the doctor be sure to ask "where do we go next?" or "what's the next step?" or "when do you want to see ___ again?" The doctor may have already told you. But then again, maybe not. Be sure you are aware of what's being asked of you and what your next step is. MRI? CT-scan? Angiography or lymph testing? Believe it or not, some doctors think that by simply giving you a diagnosis they've done all they need to do. Maybe you'll be sent on to another specialist. Find out who is your go-to contact for emergencies and even just general worries.
After receiving a diagnosis, you may feel that's it but it's no time to rest. Now you're journey is really beginning! Good luck, you'll need it....
No comments:
Post a Comment