My name is Emily, and I am Josephine’s mother. We call her Jo, or JoJo, for short. We live in Stafford, Virginia. Jo lives with me and her dad, Scott, as well as her older sister, Catherine; her older brother, Christopher; and her twin brother, Lincoln. We also have a boxer named Sadie. We have a crazy, full house – there is always something happening around here! While all four kids are in public school during the day, on any given afternoon or weekend, you will find the house overflowing with our kids and their friends, cars pulling in and out of the driveway for various carpools, music playing loudly, and snacks flying out of the pantry. It can get pretty chaotic!
Unfortunately, Jo doesn’t love chaos. Fortunately, she’s grown up around all of this, so she’s used to it. She has become a sweet, cuddly, but fiercely independent girl. She wants your attention when she demands it, wants to be alone when she abandons you after you’ve hunkered down to the floor with her, and wants her dinner on time. She is motivated primarily by food, and a big bowl of Cheetos or goldfish solves most of her problems. And she loves a good bath! Bath time can reset pretty much any mood swing or tantrum.
Jo is currently eight years old, but she was only two and a half when she received her diagnosis. Those two years felt so long! Jo was developmentally delayed from birth, and we had her working with in-home therapists since she was about nine months old. We knew something wasn’t right, but the doctors didn’t know what. We visited many specialists, none of whom knew anything, and all of whom referred us elsewhere. We even saw a geneticist who told us her issues weren’t genetic and then sent us on our way. Right around her second birthday, in September, Jo’s ENT wanted to put tubes in to help with her chronic ear infections, and she had to get cleared by her neurologist before surgery. Her neurologist ran some tests to make sure Jo was good to go and discovered that she wasn’t processing proteins as expected. This prompted more testing and a referral back to genetics. We saw a different geneticist and began to undergo a series of tests for a variety of genetic conditions, each one scarier than the last. I was so scared, I don’t think I slept a full night for three months! Finally, in December, Jo’s geneticist recommended whole exome sequencing. When those results came back, Jo was diagnosed with Ogden syndrome, an Naa10-related condition.
At the time of her diagnosis, Jo was only one of three known cases in the world. We were immediately put in touch with the other two families for support, but the doctors knew nothing and could offer almost no help or advice. The only thing they could assure me was that as long as her heart was okay, there was no reason to believe this genetic abnormality would be fatal. We immediately followed up with her cardiologist, and while she has developed Prolonged QT syndrome since then, she was fine at the time and continues to be treated and monitored by an electrophysiologist.
Aside from worrying about her health, I felt relieved to have a diagnosis and people I could reach out to for support. Jo was generally a happy little girl. I fully believed she would walk and talk and continue to make progress, so I sat in that relief for as long as I could. The years since then have presented more of a challenge.
As Josephine has gotten older, her inability to communicate paired with the onset of seizure activity has caused her to be frustrated and angry. We are finding our way through, learning to anticipate her needs and understand her very limited array of noises and actions as communication, but it’s not easy. We have gotten her seizures more or less under control, which has helped. She is happier now than she has been in a long time, but there were a few years during which she was more miserable than anything else, and that took a toll on us as her parents. Luckily, we have a very strong marriage and a TON of support from family and friends, so I don’t think our children have suffered for having a sister with such special needs. In fact, they seem to be more compassionate, kind people as a result.
One of the most helpful things for our daily life is that Jo was found eligible for Medicaid services through the state when she was three years old, which allows us to hire care aids to help us at home. We have found wonderful people to come work with her, and they’ve become like family to us. Having them here to help with Jo frees me up to drive carpools, arrange playdates, and encourage my kids to be involved in sports, school, and the community around us. Life without help would be incredibly stressful and would likely result in my other children missing out on a lot. As for Jo, while she may struggle to have friends within her peer group, her aids are here for her; they are her people, and they love her, play with her, and care for her.
Being the parent of a child with special needs is hard. Period. I’m not going to sugarcoat that. But if you take the time and opportunities afforded to you to build a network of support, it is manageable. You’ll meet new people who share your struggles. You’ll learn a lot about insurance and education. You will have hard days, but then the good days really are that much sweeter.
-Emily and Scott