A couple months ago, when Sedona started walking and wearing shoes more often, I noticed that one of her ankles seemed a little swollen. We gave it a few days as it didn’t seem to be bothering her at all but the swelling didn’t seem to go away and I started to notice her foot and calf were bigger as well.
We took her to the pediatrician who sent us for xrays and labwork. Everything came back normal so she sent us to a orthopedist, a little triggering since we had been down that road with Maddie (Sedona's older sister who is currently battling Neuroblastoma). With everything else going on in our lives, and the apparent surplus of injuries during the summer, it took us a few weeks to get in to see an orthopedist.
The orthopedist examined Sedona and did some additional xrays. Sedona was diagnosed with something called hemihyperplasia or hemihypertrophy. Which basically means that she has overgrowth in one side or part of her body, for Sedona it is just her right leg. This condition could be isolated or it could be caused by a number of genetic conditions, most likely one called Beckwith-Wiedemann Syndrome. The hardest part of this diagnosis is that Sedona has an increased chance of developing certain types of childhood cancer, most commonly a Wilms Tumor or kidney cancer.
We were able to get Sedona in quickly for an ultrasound and everything is looking good so far. She will continue to be monitored every 3 months until she is ~8-10 years old through ultrasound and blood tests. We’ve heard varying numbers on how much of an increased likelihood she is at to develop a cancerous tumor, depending on which genetic defect she carries—with the risk ranging from less than 3% to about 25% of those diagnosed developing a cancer tumor before the age of 8.
Today we met with a genetics counselor at Emory who is testing Sedona for genetic conditions/markers that could be causing her hemihyperplasia. The genetics team was very helpful in answering all the questions about crazy scenarios we found while spending with Dr Google. They were able to quickly rule out a number of super scary genetic problems and focus in on isolated hemihyperplasia or Beckwith-Wiedemann. There are two known genetic markers for Beckwith-Wiedemann Syndrome we can test for, one has a much higher association with developing cancerous tumors in childhood so they’re testing her for both markers and we should have the results back in 2-4 weeks. Here is a really good article on how they will test her genes: https://www.sciencemag.org/news/2017/01/mysterious-method-gene-control-sheds-its-secrets
In addition to monitoring Sedona for tumors every 3 months, we’ll have to continue to check in with the orthopedist. The genetics counselor and the orthopedist both pointed out that in addition to the width of her lower leg/ankle, her right leg and foot are both longer than the left. Sedona will eventually need a lift in her shoe and potentially surgery to pin the growth plate and slow down growth in her early teens. Hopefully they’ll be able to time it just right so that her legs even out in adolescence.
I’ll keep you all posted on how the scans go and results from Sedona’s genetics testing. It was a rough few weeks for our family when we first found out about Sedona’s diagnosis but the positive ultrasound results and then our meeting with the genetics team gave us a lot of peace of mind that if they find anything in the future there is an extremely high cure rate when caught early and monitoring will ensure we do just that.
