By Abraham Weitzman
I found out that I have Foxg1 syndrome while I was taking a schvitz after a day of hiking in Acadia National Park.
Which is to say, I was living a fabulous life when I heard the etiology of my seizures, movement disorder, lack of speech, tube feeding and uncontrollable laughter. I was nineteen, about to begin my sophomore year at Columbia University, and suddenly I had hope for a cure. That lasted about five minutes while my mom explained that Foxg1 encodes a transcription factor for early brain development. You are mostly done using the gene by the time you go to kindergarten, so I figured any cure they develop would not be for me. To borrow from Donald Rumsfeld, I had gone to school with the brain I had. I will never speak, chew, drink, drive or point. I cannot blow a kiss or give someone the finger. But I can write and that means I can say "I love you" or "fuck off." I can be snarky or kind just like any other New Yorker.
When I was a baby I didn't crawl or hold a toy or look at my mom when she spoke.
My pediatrician sent me to be evaluated for early intervention. By seven months old I had physical, occupational and speech therapy and a teacher, all working with me three times a week at my house. I had every advantage, family, health care and financial security. Everything that could be provided, was given to me. Still I never learned to crawl, hold anything or to track a moving object. I did learn to stand, take steps and turn my torso as long as I had support for balance. I learned to look at things that stayed still like pictures, letters and people who waited for me. I learned to listen very, very carefully.
As an adult I have learned that communication is the most important thing I do. It includes receptive and expressive language, as the speech therapists say. The mode is less important than the content. I can read with my eyes but my head moves so much I get lost on the page. So last semester I read War and Peace auditorily. I cannot hold a pencil or type with a keyboard.
I wrote this blog post hitting a custom switch array with my chest.
It is not critical to do things normally. Normal changes as technology develops for all people. For me normal is taking longer and producing amazing results. Everyone has their own normal. Embrace yours.
Eating is overrated.
I do not mean nutrition when I say eating. It is essential to get proper nutrition but eating by mouth is not the only way to do that. Consuming via g tube is an efficient use of time and an effective delivery method for food and medication. It is considered successful when a person gets what they need; the end result matters more than the route.
Sleep is underrated.
I have had sleep trouble my entire life, trouble falling asleep, staying asleep, waking up and staying awake. I take epilepsy medication that causes drowsiness and when I was younger I took medicine to help me sleep at night so I could be up during the day. I strike a balance between hours awake and seizure control and seizure control wins. So I sleep about eleven hours at night to be wide awake during the day and I am generally seizure free.
I am academically successful by any measure.
The secret to my success is planning and persistence. It takes me longer to do my work but rather than ask for extensions I request the assignments early. This way I keep up with my classmates. I still need extra time occasionally, but it is a day not a week. I always work a week ahead so a health problem doesn't become a school problem. I write to my professors before each class semester to tell them in advance about my vocalizations and uncontrolled laughter. I invite them to share information with students if they ask. My goal is "stay ahead", to create slack and thus avoid stress. Then I work steadily, every day of the week, alternating between the physical demands of writing and recouping in my wheelchair. It helps to have a routine based on my stamina. Mornings are best for writing. Evenings are for reading and taking notes. Afternoons I try to be social if I'm not in class. I watch TV for an hour before bed, to unwind. It may sound boring, but it works for me. The point is to find a routine that works for you and be flexible when something special arises.
Having a severe disability makes it harder to be spontaneous.
My parents have a google sheet for the checklist of supplies I need to travel so we don't forget anything. It can be tempting to stay home. Don't! Travel opens my world to other cultures and amazing views of mountains and bridges. Travel isn't always getting on a plane but it requires accessible transportation. It can be frustrating. I have no advice on improving public transportation but I find the experience is improved by lowering expectations. This approach is a bit like radical acceptance, my favorite DBT skill. (for more on DBT, check out my article Just Keep Swimming, awarded the American Voices Medal in 2019 by the Scholastic Art and Writing Awards).
The idea is to avoid expending emotional energy on disappointment.
It is easier to accept Access-a-ride being late if you did not imagine it might be on time. Once you arrive at your destination, be open to cultural differences about disability. It may be better, like Paris where the accessible stall is only used by disabled people. It may be worse, like a Broadway theatre that sends you across the street to Sardi's to use the bathroom at intermission. It may be weird, like an old man touching your forehead and praying for you without even saying hello. Try to have the experience with humor if you can, pretending you are starring in your own travel show.
I have spent a lot of time waiting and it is best spent using my imagination, creating characters and devising plots. It means I am happily occupied when others might be bored. I am lucky to be naturally content. My brother is the same, so it is not a symptom of Foxg1 but rather a characteristic of being a Weitzman.
Being diagnosed with Foxg1 syndrome has not changed my daily life.
It has explained why I have these conditions, which is reassuring for my siblings, since it is a de novo mutation.
It has brought me to a community of families, which is nice, but what I really hope for is friends with Foxg1. I want peers who experience the disease first hand.
I want to share the frustration about needing so much help and the love I give and receive in being cared for by a team. I want a feeling of not being the only one. For all of this to happen, others with Foxg1 must be able to communicate. This starts with dispelling the myth that we are intellectually disabled and therefore have nothing to say.
Physical and neurological challenges mask intellect and having intellectual challenges does not eliminate thoughts and feelings and the need to express them. We must look for access methods that use the abilities we have and acknowledge the emotional pain of being silenced by our own bodies.
I want to be part of the process to bring community to people with Foxg1 syndrome, not just their parents. I'm counting on all of you to make it happen.
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