Thursday, June 7, 2012

Congenital Primary Lymphedema (Milroy's Disease)

Yesterday was the first step in a long journey.

You may recall that Andrew was born with a puffy foot.  Then he had an MRI to see what it might be.  Then all the docs said that because it didn't seem to bother him, we should just wait and watch it.

In the meantime, Andrew has been walking.  He walks quite well, actually.  He is in all ways a normal, rambunctious toddler. Except his right foot is still puffy.

To recap the story so far, he was examined by two pediatricians and two pediatric orthopedic specialists after birth, he had an MRI at 2.5 months old (including general anesthesia), and everything checked out fine.  Except no one really could say what the swelling was.  The term "lymphedema" was kicked around, but it was explained to me in a general sense: the foot is swollen, and what is making it swell is excess lymph fluid.  Hence, "lymphedema."  All docs recommended a "wait and watch" approach.  Okay.

We just had a follow up appointment with pediatric ortho at Children's Hospital, and they still basically want to wait and watch.  However, I finally looked up lymphedema.  Turns out, the vast vast majority of lymphedema cases are post-op, especially post-cancer treatment, where lymph nodes or vessels were damaged or removed (which is secondary lymphedema).  However, there is a rare (but not THAT rare),  specific condition called congenital primary lymphedema (aka Milroy's Disease), which is basically a malformation of the lymphatic system in some body part, usually an extremity.  It has a very specific treatment plan and the general wisdom is that "watching and waiting" is a BAD approach.  It's congenital because it manifests at birth.  It's primary because it's hereditary (and indeed, there is a history in Travis's family of swelling of random leg parts, from a single ankle to all of both legs from hips to toes).  It occurs in 1 in 6000 babies.

The prognosis is that it's a chronic condition, but with lifelong maintenance (compression socks, etc.) he can maintain a normal foot.  In very, very rare cases it can resolve (Travis had a swollen left foot that resolved within the first 6 months of life, and I just found another kid on a forum whose one foot resolved by 2yrs, although the other is still affected).  But Andrew should have been in therapy, at least getting massage, and possibly wearing compression socks from the beginning.  My instinct was to put him in shoes for the compression, which I did for a while at 3 months, but then our former pediatrician urged me to stop so that "new lymph vessels will develop on their own," which if you know anything about primary lymphedema is so unlikely as to be impossible.  But I listened to the ped and took the shoes off.

Of all of the chronic conditions he could have to deal with, this is pretty easy.  It is not life-threatening.  It doesn't affect his intellect or his emotional development.  It doesn't really affect his physical functionality (he's walking fine!).  There are so many kids who have much worse, scarier things to deal with.  But it is most likely a life long condition.  He may be infection prone due to his malformed lymphatic system, especially in that leg.  If it's not massaged and/or compressed on a regular basis, the foot could become fibrotic and painful.  So this is our life now... it's *his* life now.

Oh yeah, it's an autosomal dominant genetic trait -- there is a 50% chance Baby Girl will have it too.

I spent last week trying to find lymphedema specialists (most of them work with cancer patients) and therapists (ditto) who will take on a pediatric patient, specifically an active toddler.  Which is not what I thought I'd be doing ~3 weeks before giving birth.  Two therapists I called told me outright they don't work with kids.  (I'm like, there is no such thing as a pediatric lymphedema therapist, so where to you suggest I go?)  But the third call was the charm, and we found a therapist who would take a look.  It only takes one!

Yesterday, we had our first session with the therapist.   The lady that we are seeing is FANTASTIC.  She appears to be the most highly trained/credentialed/experienced LT in the Denver metro, and she didn't hesitate to see a toddler.

After I related the whole story and family history to her, she showed me the massage techniques to help his lymph nodes drain.  She suspects that, rather than having malformed or missing lymph vessels in his ankle, it's actually the major lymph nodes in his groin area that are having trouble draining.  She thinks if we can help those drain more effectively, along with the armpit ones and the belly button ones (I didn't realize there was a cluster at your belly button) that we will see the foot go down some even with no compression.

Initially she wanted to not do compression yet, but after examining his foot, she noted what I have been noting over the past couple months or so - that his foot was getting harder.  Because of this, she decided that we should meet next week (barring a new baby) and she will show me how to wrap it then.  She is highly optimistic that we will reverse the hardening, and that he can have a normal size foot, with help.

The massage is pretty easy to do, and it's a light touch, since lymph nodes and vessels are right under the skin.  Andrew seemed to enjoy it and relax with it.  He really loves touch (hugs, back rubs, cuddles, wrestling), so I'm not surprised that he takes to it well.  I did it before we put on his pajamas for bed and then again when he woke up this morning and I changed his diaper.  Ideally we'll do the massage 2-3 times a day.

Also, after some phone tag, I was finally able to reconnect with the PA at my pediatrician, who we have been seeing at well child visits.  She was shocked at the non-answer that we got from Children's Hospital Ortho, and committed to helping me find a medical doctor (as opposed to a therapist) who is familiar with the condition and perhaps better suited to do the follow up visits.  She was going to call CH Ortho too, because she knows the doc we saw and wonders why there was such a disconnect in the level of care/detail of answer we received.  The therapist was already saying she wanted to call up our ped to coordinate care, and the PA at the ped was happy we were starting the therapy and is now prepared to speak with the therapist.  Everybody's on board - we are assembling a team.

So, I'm really happy with this.  It's amazing what a relief it is to (a) talk to someone who actually knows what they are talking about and (b) have a plan of action.  I am so confident that with the proper care and maintenance, Andrew is going to have a normal quality of life, and I feel like we are now on a good path.  And I feel much better that the PA at the ped validated my frustration and awkwardness with the ortho docs.  It's amazing how having someone say, "Yeah I agree, that doesn't sound right.," makes you feel not so crazy.

Lessons: Be your own advocate, and do your own research.  The doctor isn't your master and commander, he's merely someone on your team - don't turn your brain off.  Get second opinions.  Trust your instincts.  Be thankful everyday for your awesome little boy.

4 comments:

  1. So true!!! This can be so frustrating when your gut is telling you one thing and the "experts" are telling you another! Thank goodness for the Internet and for a mommy who followed her "gut". Glad this posted to fb. I am so behind in blog posting, let alone reading...
    hugs,
    L

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  2. I'm so glad that you are starting to get some answers and some appropriate help. We'll be thinking of you as you continue on this path. Hope all is going well in your last days of pregnancy.

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  3. I just wanted to say congrats on finding and following through with treatment - I've just been diagnosed with Milroy's at 27, but back when I was little, doctors looked at my puffy feet like oddities and shrugged it off. Later they blamed ballet, told me to get orthotics, see knee specialists; it wasn't until just recently that anyone considered sending me to a vascular surgeon who had the idea to run the appropriate tests. Thank you for sharing, and good luck to you and your son! Trying to find more than the standard diagnosis/symptoms/etc online has been a challenge.

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  4. Hello,
    I know this blog hasn't been updated recently, but I found it while doing research on Milroy's. I am actually in MDL training and have to do a research paper. While I know it isn't super common, I believe that those diseases need known also, the reason I chose it. I was wondering if I could have your permission to quote you. And if you have any updates on how your children are doing currently I would appreciate it.
    Thank you

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