In recognition of International Angelman Day, I had the pleasure of sitting down with Danielle K. of Needham, Mass. in our Somerville offices to discuss the impact of Angelman syndrome on her son and family. Danielle is raising two sons and her oldest, Bruce, is nine years of age and lives with Angelman syndrome, a rare, neurogenetic disorder that causes cognitive and motor impairment, difficulty with communication, balance issues, sleep disruption and seizures.
Danielle shared insights from her family’s journey to diagnosis, how having an Angelman syndrome diagnosis has impacted their lives and her wish list for her son as he grows.
Receiving a diagnosis of Angelman syndrome
Signs of seizures were the first overt symptoms Bruce experienced as he neared his first birthday. His grandma Mémé, whose professional career included 30+ years of experience with adults with various intellectual and developmental disabilities, was the first to suspect something might be wrong. And she is now one of his strongest advocates, always pushing for more opportunities for Bruce.
“I remember it vividly. It was Easter Sunday, and we were taking a video of Bruce having his first glimpse of the basket that the Easter Bunny brought for him, when suddenly his head dropped and bobbed a bit. I thought maybe his neck was just tired or not strong yet, but after sharing the video with my mom, Bruce’s Mémé, to wish her a Happy Easter, she responded back, immediately identifying Bruce’s head drop as a seizure and told me to contact our doctor immediately,” described Danielle.
Photo: Ultragenyx employees in Somerville took part in the Caregiver and Coffee conversation with Danielle K. on February 11, wearing blue in support of those with Angelman Syndrome.
Bruce was ultimately diagnosed with Angelman syndrome and also received a Cerebral/Cortical Visual Impairment (CVI) diagnosis. The family’s first reaction was to spring into planning mode to determine how to give Bruce the best chance of reaching his fullest potential. Actions they took included:
- Finding the right team of healthcare professionals
- Asking themselves the tough questions including how to ensure he’s cared for throughout the duration of his life, even beyond theirs
- Researching therapeutic options including clinical studies
- Connecting with other families impacted by Angelman syndrome for support and to understand what the future may hold
Raising a son with complex needs
“After Bruce’s diagnosis, we received a packet in the doctor’s office that had the list of symptoms and risks outlined, detailing how this would impact his ability to function and live the life we dreamed of for him. I asked the doctor how do we treat this? And he said, you don’t. This will require 24/7 lifelong care for him,” shared Danielle.
Photo: Jeff and Danielle K., parents of Bruce, host an annual Skating Angels Hockey Tournament outside of Boston, MA to raise money for FAST and spread awareness about AS.
Bruce requires 24-hour hypervigilant care. Danielle shared that as a parent living the role of mom to a child with complex needs, she believes others cannot truly understand what it is like unless they too have lived it. This is one of the reasons why Danielle and her family have become active within the Angelman syndrome community – to ease the solitary feeling that can become overwhelming at times.
“Some days I feel like I can take this on and I’m a strong advocate. Other days I honestly don’t know how I’m going to get through the next hour, besides taking it moment-by-moment. But being around the Angelman community is incredibly inspirational and supportive, just knowing others are managing through too,” stated Danielle.
Despite the many daily life challenges that arise from raising a child with complex needs, Danielle shared that Bruce brings immense love, light and joy into their lives.
Danielle explained, “What guides all of our decisions is ensuring that Bruce is living his best life. As my mother always said: ‘When you are not sure what to do, just love him’ and everything else will follow.”
Danielle’s wish list
Danielle shared her top wishes for her son as he grows and goes down his own path in life.
Her simple dreams include the hope for Bruce to always be well taken care of, to feel heard and to feel loved.
Danielle also hopes that one day years from now, another family can be handed a different packet than she was and one that will have actual treatments to help their child with Angelman syndrome, instead of the list of symptoms and risks.
I am grateful to Danielle for speaking to our team from the heart and sharing stories of the joy Bruce infuses into every room he enters. To learn more about Angelman syndrome, visit the Angelman Syndrome Foundation (ASF) and the Foundation for Angelman Syndrome Therapeutics (FAST) websites.
