Every family has its own joys and challenges.
We are Rick and Cristy Spooner. We live in Rancho Santa Margarita, California with our three daughters.
In some ways, our lives are what you would expect of any busy suburban parents. We work full-time running a nationwide notary business. We juggle an afterschool schedule of softball practices and other activities.
But because two of our daughters live with Mitochondrial Complex I Deficiency, we have unique struggles too.
Calyn, 16, and Ryann, 6, got this rare genetic disease by inheriting mutations in their NUBPL gene from both parents. This disease affects their cerebellum, the part of our brain that’s responsible for coordination and motor control. Complex I Deficiency causes cognitive delays, so both girls are in special education at school. They have problems with balance and motor control, so that Calyn cannot walk without the aid of a walker.
Calyn and Ryann depend on us for daily skills that other children their ages don’t require, like bathing, feeding and getting dressed. They also require extensive therapies, like physical and occupational therapy, speech therapy and others. Calyn can’t read or write, and gets stressed because she doesn’t understand the concept of time. Both are in danger of falling and injuring themselves so we have to keep a constant watch over them.
Complex I Deficiency is so rare that, until two years ago, we didn’t even know what it was. We know of only 8 people who have been diagnosed with it. But since our doctors were able to diagnose it through an advance in genetic testing called “Exome sequencing,” things have gotten better. Now both girls take a “vitamin cocktail” used to treat other mitochrondrial diseases, and they have improved. Ryann does not have to use a walker anymore, and moved up to a regular special education class where she is learning academic skills like numbers and colors.
Life as a special needs family can be exhausting (and expensive!), but our beautiful daughters bring so many amazing joys to our lives. Calyn lights up every room with her beautiful smile. We call Ryann our “Pistol” because of her boundless energy. And as the healthy sister of two girls with Complex I Deficiency, our middle daughter, Raelyn, has developed a sense of compassion and maturity beyond her 9 years.
Every family has its own joys and challenges. These are ours.