Today’s post is in honor of Rare Disease Day. The mission of Rare Disease Day is to raise awareness to the general public and policy makers about rare diseases and their impact on patients’ and their families lives. Janssen supports the fight against several rare diseases.
When my daughter Hope was a baby, we noticed that she was consistently lagging behind her twin brother in reaching milestones, such as lifting up her head, rolling over or sitting on her own. We discussed our concerns with our pediatrician, who sent us to a neurologist for further testing. By the time she was 10 months old, we received news that would change our family forever.
Hope was diagnosed with Angelman Syndrome, a rare neuro-genetic disorder that occurs in one in every 15,000 live births. She is missing a small portion of the maternal chromosome 15, where a protein called UBE3A is found. Loss of UBE3A expression in the brain results in Angelman Syndrome. Characteristics of Angelman Syndrome include developmental delays, sensory processing issues, trouble with balance, lack of speech, and a risk of seizures. Individuals with Angelman Syndrome have a normal life expectancy and require lifelong care.
To say that learning that Hope had Angelman Syndrome was devastating for my husband Kevin and me would be to put it mildly. The news completely uprooted my vision of the future for our family and the dreams that I had for my daughter. We have gotten a lot of help from our family and friends who have rallied with us to support and love Hope.
Being a parent to a special needs child, especially one with a rare disease, can be quite challenging. Hope has more doctor appointments and school meetings than our other two children. Many of her therapists and teachers, and even some of her doctors, have never heard of Angelman Syndrome. Strategies that work for a normally developing child or one with a different more common disorder may not work for Hope. As her mother, I am often the expert in the room and have to educate others about AS. She may never be able to use spoken words to communicate, so we are focused on teaching her alternative modes of communication such as speech generating devices. It is clear to us that there is a lot she wants to say and that we need to help her learn how to say it.
Social media has changed the face of what it means to be a parent of a child with a rare disease. It has made it easier for families to connect on a daily basis to share success stories and offer support. The Angelman Syndrome community is small, but it is global and very tight. Locally, there is a small group of AS families in our area who gather to participate in an annual fundraising walk, family picnic, and other occasional get togethers. It is nice to be among people who understand.
In many ways, being a parent to a child with special needs is good practice for being a parent to any child. There is a lot that I cannot control. Instead, I choose to focus on my child and the issues of the day and, when I can, I try not to spend time worrying about what the future may bring. I have set the bar high for my expectations for Hope and what I expect from her. Along with her dad, I am her biggest advocate.
While navigating the world of rare diseases has been challenging, there are blessings, too. One of the characteristics of children with Angelman Syndrome is a happy demeanor. Hope laughs frequently and is often smiling. She loves interacting with people around her and is truly the sweetest person I know. Hope radiates joy and brings smiles to all who know her.
We celebrate every step and every milestone whenever it occurs without a lot of pressure and angst on making sure it happens on a strict time line or in a particular order. Hope started walking right around her third birthday and those first few steps were just as amazing to us as the ones taken by her siblings at their younger ages.
The sheer happiness and pure joy exuded from Hope on a daily basis is hard to capture with words. But for those of us who are blessed to have her in our lives, it is truly priceless.
For more information about Angelman Syndrome, visit the websites of the Angelman Syndrome Foundation (www.angelman.org) or the Foundation for Angelman Syndrome Therapeutics (www.cureangelman.org)
You can also read J&J mom Dawn’s post from last year’s Rare Disease Day, where she shares her family’s personal experiences.
Katharine Grugan has worked as a Research Scientist at Janssen R&D for the past four years. She lives outside of Philadelphia with her husband Kevin and three children Hope (4), Jack (4), and Erin (1).