DS was born with a puffy right foot. It is still swollen at 13 months. Here is a picture of his legs and feet at 10 weeks. He now has chunky toddler legs, but his foot looks approximately the same.
So looooong story short, 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 no one really could say what it 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 were damaged. 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 DH'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.
I am mad that I never looked it up. I am mad that I took the doctors at their word. I am mad that no doctor or PA or nurse or anybody thought to look it up. It's rare but it's not THAT rare. Someone should have said, "Hey, maybe I should look into this with a vascular specialist." Or even "Hey, maybe I should recheck my medical textbooks that are collecting dust on the shelf in my office."
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 (DH 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 DS should have been in therapy and 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 the 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. And I listened to the ped, took the shoes off, and didn't really pursue compression any further, even though it seemed like the likeliest solution.
It's fine, really. 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 it worse. But it IS a life long condition. He may be infection prone due to his malformed lymphatic system, especially in that leg. If it's not massaged/compressed on a regular basis, the foot could become fibrotic and painful. But most of all I'm mad that I was blinded and complacent, and that I didn't listen to my mama instincts. I am now 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.
Oh yeah, it's an autosomal dominant genetic trait -- there is a 50% chance DD will have it too.
Just working on processing through this. Any other mamas out there have experience with this condition? I'm trying to make connections, work out a plan going forward, and get some support. Clearly I have to do this myself and can't rely on doctors' guidance. As of noon today, we do have an appointment with a lymphedema therapist next week, so we are starting down that path.