My name is Betsy Black, and I live in Keller with my husband and our four kids. I’m writing about Angelman syndrome because it is a phrase I had never heard of until our youngest daughter was diagnosed with it at the end of 2020. In the three years since our family has learned so much about this rare disease. I now take every opportunity to spread awareness because I want it to become so well known that the next family won’t have to wait over two years for a diagnosis, and so research will be better funded to entice more doctors and scientists working on therapeutics to focus their work on Angelman syndrome treatments.
What is Angelman Syndrome?
Angelman syndrome (AS) is a rare neuro-genetic disorder that occurs in one in 15,000 live births or 500,000 people worldwide. It is caused by a loss of function of the UBE3A gene in the 15th chromosome derived from the mother. Angelman syndrome shares symptoms and characteristics with other disorders including autism, cerebral palsy, and Prader-Willi syndrome. Due to the common characteristics, misdiagnosis occurs often. (Angelman.org)
Sophie is our five-year-old daughter. She is full of joy, has the best smile, loves to give hugs, enjoys school, adores her three older siblings, cracks up at all the mischievous parts in the Home Alone series, and she is the hardest-working/most determined person I know. Sophie is also non-speaking, prone to drop seizures, suffers from ataxia, wears glasses, and uses multi-modal communication because she has Angelman syndrome.
Sophie was born by emergency c-section after a failed induction for IUGR late in my pregnancy. Her first days and months at home were nothing like those of our older three children. She was uncomfortable with GERD, and my husband and I took turns holding her upright each night for the first three or four months of her life as we tried various medications with little relief. By six months, Sophie was very weak and did not like tummy time. She would either spit up immediately upon being placed on her stomach, or she would fuss for a minute and then fall asleep. At nine months, we noticed an eye wander, so we took her to the pediatric ophthalmologist who had treated our oldest son for esotropia years earlier. She was very farsighted, so he prescribed glasses and told us to patch her affected eye for an hour or two each day. Her pediatrician worried about her lack of milestones and her low weight (15 #), so she referred us for an evaluation by ECI, and Sophie began weekly PT.
At eighteen months of age, Sophie was still not reaching many milestones, so she was referred to cardiology, endocrinology, genetics, and neurology. With every test or scan, we got “normal” results, so when the MRI noted a finding of Chiari I Malformation, we thought that must be the cause of her delays. However, when we scheduled with a Chiari expert neurosurgeon, he agreed she had the malformation but did not think that this was causing any delays, and he definitely didn’t want to perform a spinal decompression surgery on 18-pound Sophie. We kept on with PT and added speech services at this time, and still wondered what was going on with our happy little girl.
Right around Sophie’s second birthday, we had a Zoom check-up with her neurologist. He said everything sounded good, and at the end of the call, he said, “Well, if she starts having seizures, let me know and we can run a CP panel.” Waiting for the onset of seizures sounded terrible to me, so I asked if we could run the test now. I swabbed the inside of Sophie’s cheeks and sent it back to the lab. In early December, we finally had an answer: Sophie’s delays were caused by Angelman syndrome. The reason our previous tests had not caught the diagnosis was because hers is a mutation of the gene, not the more prevalent deletion of the gene.
When we got the diagnosis, there was a mourning of what we expected Sophie’s life to be like, but with her beautiful smile and determination, we could not be sad for very long at all. She makes all of us better and happier people. She is exactly the person that God made her to be, and we are fortunate to have a front-row seat to all of the joy and hard work she exhibits daily. In the years since diagnosis, Sophie has accomplished so much! She had bilateral strabismus repair for her alternating exotropia at age 2.5 and started walking shortly after that. She started PPCD/preschool after she aged out of ECI at age three, and she is a little rockstar at both school and all of her weekly Beelieve therapies. She can eat with a fork, drink from a straw, and knows several signs. She is also working really hard to learn to communicate with her AAC device. She constantly amazes me with the things she understands and the clever ways she communicates non-verbally.
I am so grateful for all of Sophie’s therapists who helped her achieve each goal! We have had some of the very best at Beelieve, and we are so fortunate to live so close to this amazing clinic since we know of other AS families who travel from out of state to come to our clinic for intensives! I am also incredibly thankful to have the support of the Angelman Syndrome Foundation and Angelman parents who have walked the path before me and shared their knowledge. I hope that our family can be that ray of hope to the next families who are diagnosed.
Thank you for reading. If you see Sophie or me at the clinic, I hope you will say hello! Please join us in wearing blue on February 15 to spread awareness of Angelman syndrome. Awareness is a great way for us to learn more about this rare disease and raise funds to train new doctors and fund research. If you are interested in learning more, I encourage you to check out Angelman.org. You may also join Sophie’s Superfans at the DFW Angelman Walk on May 18 (https://support.angelman.org/event/2024-asf-walk-tx-dallas-fort-worth/e539423)