Adding Family to FAM177A1

After 16 years of not knowing another person in the whole world with our children’s diagnosis, we finally met another FAM177A1 family today. We’ve know about this family for a couple years but because of HIPPA related reasons and because life gets complicated when you have sick kids, we hadn’t connected. And then, Nikki stepped in.

Nicole “Nikki” Legro is a 4th year medical student at Penn State. Earlier in her medical schooling, she spent time at the UDN-Stanford and took an interest in Charlotte and Cooper’s case. Consequently, she authored a poster entitled “Novel FAM177A1 variants cause macrocephaly, developmental delay and intellectual disability in three families” that was presented at the 2020 American College of Medical Genetics conference. Fun fact: since blogging about this, it’s been the most visited page on our site, www.fam177a1.org.

Since then, Nikki and the UND-Stanford team have been busy finding other patients and working on a paper about FAM177A1-associated disease that they hope to publish soon. Nikki happens to be in Seattle on a surgery rotation and she reached out to see if she could meet us. Yes please! She came over and met Charlotte and Cooper, “Case 1” and “Case 2” from her poster. It was an emotional and deeply meaningful meeting for all of us. We bonded over our love for skiing, learned more about our gene and discussed our continued yearning to connect with other affected families, something that for a variety of reasons just hasn’t happened despite now identifying 11 patients from 6 families through research and gene matching databases.

Here is a picture of our family with Nikki.

Meeting Charlotte and Cooper energized Nikki and the day after our meeting, she reached back out to a clinician in California who had two siblings with FAM177A1-associated disease and re-expressed our interest in connecting with the family. This time, we got a hit and within hours, Doug and I were on a zoom call with the family. We felt an instant connection as we shared about our journeys down the same curvy, bumpy, lonely, never-dull, challenging but rewarding and love-filled road. They also have two kids affected by loss of FAM177A1 and their daughter Laila and our Charlotte are strikingly similar. The shape of their eyes is the same and they shared the same awkward speech, clumsy walk, cheerful demeanor, and affinity for shoes, both fancy and functional. We finishing each other’s sentences and we can’t wait to talk to them again.

Today, we added FAMILY to FAM177A1.

We are not alone.