I can remember being full of hopes and dreams when each of our three children was born. I still have hope, but those dreams are different now, and that’s OK.

Somewhere early in the journey of most “special” parents, someone sends you the “Welcome to Holland” essay. It’s about preparing to have your child as you prepare for your first trip to Italy. You hear about how beautiful it is, and you read the guidebooks. You think you’re prepared, but when the plane lands, the captain says, “Welcome to Holland.” You’re confused and upset because that’s not what you’re prepared for. You get off the plane and walk around Holland because you really have no choice. Along the way, you come across a field of tulips. It’s not what you expected, but it’s beautiful in its own way.

Well, we’ve been to Holland. Three times. The tulips are indeed lovely, but the guidebooks are still a bit of a mystery.

Our first daughter, Sarah, is a sports nut. She’s very active in Special Olympics tennis and loves the St. Louis Cardinals. She is on the autism spectrum somewhere, is shy in unfamiliar social situations, has difficulty with transitions, and school was not easy for her. But she’s very active with her group of friends and is wicked fast with word games. She had her first seizure at age 10, but they’ve been under control with medications for the past few years.

Our second child, Daniel, was a happy boy, full of energy and laughs. He was nonverbal but engaged with people who were willing to get down and play with him. He had his first seizure at age three, and they were never under control. We called him “upside down” Daniel because he would stand on his head, and he turned our lives upside down. While we thought we were trying to “fix him”, he taught us to follow his lead. We learned that paying attention to what motivated him was the key to learning, as it is with us NTs (neurotypicals). Sadly, Daniel died while we were on vacation. For us, he is forever nine.

Our third child, Meg, has been full of life and laughter since the day she was born. When she wasn’t hitting developmental milestones, we knew enough to get her into therapy when she was 18 months old. She did very well in school, even though she was socially awkward and had an auditory processing disorder. Her first seizure was just before her fifteenth birthday. They were under control with medication for a while, enough to get through college. Currently, she has seizures almost every day and, for a while, had a movement disorder. She has seen several neurologists at highly regarded hospitals, and they have been stumped. So have we. She has had multiple MRIs, EEGs, genetic tests, and more. She has tried many seizure meds. For a while, they thought that her unexplained seizures were FND (functional neurological disorder), which is a psychological stress response. It’s real, but Meg is about the most unstressed person I know, so that made no sense.

This year, her seventh neurologist recommended another round of genetic testing, which was denied by Medicaid because she had been tested before, but the testing company covered it. This time they found something. She has a variant in the SLC6A8 gene, otherwise known as Creatine Transporter Deficiency (CTD). We looked at the information, and we checked off the symptoms that had been a mystery to us and her neurologists.

There was some relief in having a diagnosis that was specific, and where there is a lot of research happening, even though it is a rare disorder and there is no cure. At the same time, we are puzzled that we didn’t learn about this before she was in her thirties. She had genetic testing with several large and well-regarded hospitals, but for some unknown reason they didn’t specify looking at the SLC6A8 gene.

We also just learned that Daniel had CTD. After he died, we donated his brain for autism research, and after checking with Autism Brain Net, they have confirmed that he also had the SLC6A8 gene variant. That doesn’t bring him back, but it solves one more mystery.

We are just getting connected to the Association of Creatine Deficiencies, which seems like a small and mighty family network trying to figure things out. Meg has started taking a yucky-tasting creatine compound which she calls her “potion.” She’s a Harry Potter fan, and a Hufflepuff for her kind and optimistic spirit. She is also a book nerd who loves to read classic literature, writes a daily blog, and she’s written a book about fairy frogs and toads. Her other two passions are musical theater (Wicked and Les Mis are tied for her favorites) and coffee (she makes an awesome New Orleans cold brew).

I will close by quoting what Meg wrote in her daily blog the morning I wrote this:

“There are many pieces of writing that people live by. They can be found in places like shows, books, stores (some have inspiring quotes), etc. There are multiple ones I live by. I have found them mainly in scripture and musicals. I am going to list some of them: 

• Trust in the Lord with all your heart
• No day but today, Rent musical
• One person can make a difference, and everyone should try, JFK 
• The people who walked in darkness have seen a great light (really don’t know why this line of scripture speaks to me), Isaiah 9:2