Macrodactyly Update, Dr. Mosca, Hemihypertrophy, and Wilms Tumor

Over 3 years ago, I wrote my first blog post on Elise's rare foot condition called Macrodactyly, a condition she was born with.  Because of that post plus a few others over the years to keep track of what we've done, I have connected with other moms around the world from Greece to Tasmania to Chicago who are in a similar situation.  So grateful for the connections.  I hope this blog post connects me to even more.  This is so flippin hard to deal with alone.

Because of the contacts I've made via the blog which led to a private Facebook group, we got the very good advice to travel to Seattle to meet with Dr. Vincent Mosca at the Seattle Children's Hospital.  Now that we are stateside again, we are in need of a Dr. who can help Elise with whatever is to come with her special condition.  Our friends did not disappoint.  He's awesome.

Elise was born with Macrodactyly of her right foot - specifically big toe and 2nd toe.  At 1.5 years, we had her 2nd toe resected, the growth plate of her big toe destroyed, top tendon of the big toe cut to make the toe not curl upward as much, amputate the tip of her big toe, and debulk as much tissue as possible.  That 1st surgery got her into normal shoes and she continues to have no pain or noticeable issues of functionality.

It has now been 2 years since her surgery and Elise is still wearing normal shoes (with a lot of give to help with the extra thickness of her foot) and moving around just fine pain-free.  We have noticed that her big toe is pointing upwards more and the thickness of her right foot is more pronounced.  Our trip to Seattle last week was to start a relationship and get his advice on what kind of treatment he advises for Elise in the future when she can't fit into normal shoes anymore and/or her foot's functionality degrades.  Dr. Mosca explained that there are 3 issues combining to make her big toe grow upwards now: 1. The extra tissue growing on the underside of her foot is pushing it up. 2. The tendon that was cut during the 1st operation has grown back together and 3. The growth plate destruction wasn't 100% successful (they literally drill it from the top down and might not have reached all the way to the bottom leaving some time for the bone to keep growing until it said "guess I'm done growing now.").

We left with more of a diagnosis though than expected that threw us for an emotional loop this past week.

The right leg connected to the affected foot is not very noticeably different from the other.  I have my days when I think her butt and thigh look a little thicker than the other but I chalk it up to heavier foot = more muscle, and most days I don't notice a difference at all.  Dr. Mosca confirmed with x-ray that the bones in her right leg are longer than the left by about 17mm. You can only tell when you lay Elise flat on her back and align her legs and notice the position of her ankles a little bit off.  He has diagnosed her with hemihypertrophy and recommends an operation to stop the growth of her right leg if it becomes more than .75 inches different which he predicts would possibly happen later in her youth, maybe when she's a young teenager.  He said if it looks like that will be the case then they can start taking more precise measurements and predict pretty accurately what the length of her left leg will be so that we can decide when to stop the growth of her right leg.

Also, because she has hemihypertrophy, she has a higher likelihood of developing a kidney tumor called Wilms Tumor while she's a kid.  Not cool.  He recommends an abdominal ultrasound every 3 months until age 8 to monitor.  We stopped ultrasounds after her first surgery 2 years ago because it was believed at the time to only be isolated to the foot.  We are happy to report that as of this morning's ultrasound in Portland, she showed no sign of a kidney tumor.  Just a few days of freaking out and losing sleep over it.  Was a bit surreal to be watching my 3 year old daughter go through the same procedure I have been through whenever I got a pregnancy ultrasound - too soon!

Time has been on my side with the emotional rollercoaster I've been on this past week.  My perspective is healthier and words of comfort from friends and family are truly helping now.

Here is the last picture we took of Elise's foot (just marker on her foot courtesy of Elise) several months ago and a picture just to put a face to all this typing about her condition.