My Daughter Has Ogden Syndrome & This Is What It's Like

I hear wild noises coming from the room down the hall. Yelps and giggles and screeches. My eyes peel open and focus on the clock. It’s sometime around 2 a.m., and no, there’s no wild ape in my house. It’s just my 3-year-old daughter, Josephine, who can’t sleep and is bouncing around in her crib like the most wide-awake person in the world. I slide out of bed to check on her. Sometimes she wakes up because she's cold. Sometimes it’s because she pooped. Sometimes she is hungry. Tonight, as is most often the case, she is just awake. So I explain to her that it is still nighttime and that she needs to go back to sleep, and I tell her I love her and give her a big squeeze. Then I peek in on the other three kids and head back to bed. Josephine is going to have to entertain herself until she falls back to sleep, which could take just a few short minutes or a few very long hours.

Like many children who suffer from developmental delays or disorders, Josephine doesn’t sleep well. But unlike with most kids, you’ve probably never heard of her condition. When she was 2-and-half years old, Josephine was diagnosed with an extremely rare genetic disorder called Ogden Syndrome. Not much is known about Ogden Syndrome except that it affects fine and gross motor function, eye sight, speech, and may impact heart function. Because it affects the X-chromosome, it's fatal in boys at a very early age; most pass away before they're 18 months old. There are only a handful of living cases worldwide at this point — my daughter's is one of them — so information is extremely limited.

What we know about Josephine, we’ve learned only by being her parents.

The learning curve began right from the start, born out of the nagging feeling you get when you know something’s just not right. Josephine is a twin and was born at 34 weeks. Unlike her twin brother, who was only in the NICU for nine days, she spent eight weeks there. The nurses loved her because she never cried. Not once. But I was horrified — what baby never cries? That’s how they communicate. Babies are supposed to cry! For the entire first year of her life, Josephine barely made a sound.

Josephine also didn’t smile until she was well over 1 year old. She didn’t use her hands, rarely used her eyes purposefully, and certainly didn’t roll or crawl. The doctors told us not to worry and to stop comparing her to her twin brother. Instead, we stopped seeing them and found new doctors, specialists, and therapists. We spent two years trying to nail down a diagnosis for Josephine, which meant enduring what felt like endless visits to doctors and hospitals, often having to suggest and push for more testing. In the end, we found that while it was reassuring to have an answer, a diagnosis that provides little more than a name doesn’t offer much guidance.

Raising a child with Ogden Syndrome is like raising a giant question mark.

But while lack of guidance can sometimes be frustrating, it can also be freeing. Josephine’s ability to progress is potentially limitless. Now, her smile is breathtaking, her laugh infectious. She feeds herself, plays with toys, and observes intently. She even crawls all over the house, making mischief like any other 3 year old. We're free to encourage her to reach every milestone we’d expect our other children to reach, albeit on a different timetable. Josephine’s day is pretty similar to that of our other children. She goes to preschool while the other kids are at school. She has therapy a few times a week, and our other kids have activities like basketball and Girl Scouts. At home, she’s just one of the pack. Sure, there are times when she requires more or special attention, but mostly she just goes with the flow of the family. We eat all of our meals together at the table. We play together. We watch movies together. We bake together. At home, we’re just like any other family. ‌

Except, once we leave the house, we're not just like everyone else. It’s difficult to visit friends because Josephine needs a safe, baby-proofed play area to explore, or she gets stuck in her stroller for the duration of the visit. We rarely go out to eat because while Josephine is nonverbal, she is loud. She makes many different sounds and enjoys hearing herself at top volume. It can be embarrassing, and we worry that we’re ruining other patrons’ meals. Josephine doesn’t walk, so she has a large stroller and must use a car seat, making travel difficult. A quick trip into the city? It's a public-transportation nightmare. A relaxing beach vacation? Have you ever tried pushing a stroller on sand? I don’t think so. Plus, once we get there, all of that sand ends up in her mouth. Gross.

I often picture warm scenes of bustling family get-togethers when our kids are grown and have children of their own, but always looming in the picture is the question mark. What will Josephine look like in 20 years? What will she be able to do? How will she fit into this picture? And the scariest thought of all: Will she even be with us?

As our children get older, we find that we’re facing more and more instances when we will either have to skip an activity altogether or make the decision to exclude Josephine so the other kids can participate. It's a very tough decision, especially because we don’t know what Josephine does or does not understand, and we don’t want her to feel left out. It’s a tricky situation that, as with many aspects of raising Josephine, we fear will only become more difficult with time.

Knowing that these questions lurk in their minds simultaneously breaks my heart and fills me with pride. They love her as much as I do, and they want to be sure she’ll be OK, too. But will she?

Raising a child with Ogden Syndrome is like raising a giant question mark. I often picture warm scenes of bustling family get-togethers when our kids are grown and have children of their own, but always looming in the picture is the question mark. What will Josephine look like in 20 years? What will she be able to do? How will she fit into this picture? And the scariest thought of all: Will she even be with us? With a syndrome as newly discovered as Ogden, the future is entirely unknown.

These questions don’t just plague me; they affect everyone in our family. My 10 year old worries about what schools Josephine will attend, what kind of job she’ll have when she grows up, and ultimately what will happen to her when my husband and I are not here to care for her. She’s already decided she will be the one to step up and do it. My 5 year old wonders if Josephine will get married, and if we’ll be sad to see her leave to live with someone else if she does. I’ve assured him that nothing would make us happier. Knowing that these questions lurk in their minds simultaneously breaks my heart and fills me with pride. They love her as much as I do, and they want to be sure she’ll be OK, too. But will she? I don't know. I try my best to reassure them, to remind them that she progresses every day, that’s she’s come so far, and that we have no reason to believe she won’t achieve everything we wish for her. Yet so many what-ifs remain.

It’s not always easy for me to see the future with hope. Some days I feel nothing but anger, rage even, at the hand we’ve been dealt, and the future looks bleak. But most days, when I look into her brilliant, beautiful blue eyes and see those gears turning, see her drive and recognize her struggle, see her trying, trying, trying, it reminds me that she is fighting. She is stubborn and sassy, and I know she’s not going to give up. So neither am I.