Parenting a kid with special needs requires a lot of writing. It seems like I'm constantly writing, which is ok because… well, I'm a writer. Sitting at my desk typing a blog post is far less stress-inducing than the painful daily scribble that comes along with a rare genetic disorder.
Early Intervention requests; reminders that doses changed because of a seizure yesterday; letters to the mayor about the ramp our building is stalling on; financial aid applications; thank you notes to therapists; Christmas cards in February; invoices from the Tooth Fairy; camp registration and so on. By far the most difficult rare disease writing assignment is filling out new doctor registration forms.
I hate that damn clipboard. That pile of pages remember our daughter's birthday – Forget about her social security number. Page Three makes me sweat profusely. The most difficult section: If your kid has a rare disease associated with 50 different horrible conditions, you need a card. A Rare Disease handed over by the sweet lady who always gives us an extra smile… Like so many diseases, these registration forms have a progressive course and deteriorate rapidly. Every epic page hurts even more.
Page One is harmless: Date of birth. Address. Phone number. Name of pediatrician. Emergency contact. Page Two gets harder: Insurance. Siblings. Allergies. School… Thank god DOB was on Page One because I'm already so stressed I can't remember our daughter's birthday – Forget about her social security number.
If your kid has a rare disease associated with 50 different horrible conditions, you need a card. A Rare Disease Card. I am armed with a KIF1A card everywhere I go.
Page Three makes me sweat profusely. The most difficult section:"Pain on a scale of one to 10." I hope it's closer to a four today. I know it's not a one. Two would be nice but she's having tiny seizures and her eyes hurt. Last night she woke up in a spastic episode, so this morning her legs are cramped. She was vomiting so her chest is sore and she had a bad fall this morning… I don't know, seven?
It’s excruciating to imagine our daughter’s pain. Luckily she’s way stronger than me. She’s a superhero. Like all superheroes, Susannah just smiles and wavesat every passing baby. Sitting on the puffy, vinyl waitingroom chair she looks like a movie star riding on a float in the Thanksgiving Day Parade.
Page Four: Infuriating. Two lines underneath the question “What brings you here today?” Then another two lines at the bottom for me to list “Other medical problems.” TWO LINES? If your kid has a rare disease associated with 50 different horrible conditions, you need a card. A Rare Disease Card. I am armed with a KIF1A card everywhere I go. I am a card-carrying member of KIF1A.These cards are amazing. I’m a happier person because of my card
We Need a Mouse! Please Help Us Get a Mouse!
The first stage in discovering a cure for any genetic disease is understanding the biology of the gene and what effect a disease causing mutation has on a human being. To do that, we need a mouse. Our first mission: Develop a mouse model for scientists, researchers and doctors to work with. The Jackson Laboratory is where our hero mouse will be born. This superhero mouse will pioneer a treatment for KIF1A Kids, we thank him. Join our campaign to tell the world #WeNeedAMouse. Developing our mouse model is an expensive task. We need to fund the work. With your support we will get our KIF1A mouse. Our friends at Jackson Lab are some of the most supportive people in the world. These scientists care about our families and our KIF1A children. They also tell inspiring stories of how their work saves the lives of other kids with rare diseases. Why do we really need a mouse? Well, lets let the relentless scientists at JAX tell you at jax.org/news-and-insights/stories/medical-progress
Secretaries don't hate me and ER visits don't take five hours thanks to my shiny new card. First Responders will save my kid's life because that card explains the neuropathy making her insensitive to pain. A laminated card (written by somebody far more eloquent and informed than I am) explains everything one needs to know about a rare genetic mutation and what to do when things get real. It takes 15 minutes for me to briefly explain Susannah's when her body is as stiff as a board and I'm carrying her into a crowded Emergency Room, that little card lets me massage her legs instead of filling out a form. Thanks to my Rare Disease Card, Susannah rare disease. Usually I can't get through the conversation without crying – which adds another five minutes to my incoherent rambling. It's difficult to articulate her condition because the genetic anomaly stopping Susannah from walking is an elusive mystery without a name. Her condition is referred to as a KIF1A-related disorder caused by a mutation in her KIF1A gene. Susannah's previously unreported genetic mutation is rarer than rare.
Thank god for my KIF1A card! I love my card so much that I carry five in my wallet, 12 in my bag and Susannah always has one in her pocket. Every family member, teacher, babysitter, friend – they all have Susannah's Rare Disease Card. When I walk into a new doctor's office and that secretary hands me a clipboard, I just snap my Rare Disease Card onto the form and hand it right back. New school or camp? No problem. My consent form isn't an illegible novel – it's a prewritten baseball card stapled to the front. In the middle of the night when her body is as stiff as a board and I'm carrying her into a crowded Emergency Room, that little card lets me massage her legs instead of filling out a form.
Thanks to my Rare Disease Card, Susannah won't see the desperation in my face when I stumble through a foggy explanation of her neurodegenerative condition. Silly as it sounds, my ever-present fear goes away for one fleeting moment as I scoop her up, kiss her face and hand somebody that card. Thanks again, card.
Our incredible social worker is there for us every single day. She walked us through Medicaid and helped us get Susannah into school. She spent hours on the phone with insurance companies so we could take a breath and remember to sleep. When I have no idea what to do next (daily) she answers the call. She is our generous navigator and Susannah's relentless advocate. And she gave us a KIF1A Card. A card that protects Susannah from seeing how terrified I am whenever I talk about the disease with no name. When somebody asks what's wrong with my daughter, I say "Absolutely nothing, she's a superhero" and hand them the card •
EVERY DAY MATTERS:
DR. WENDY CHUNG ADDRESSES THE URGENT NEED FOR ACCELERATED KIF1A RESEARCH
Our mission is to save the life of every child affected by KIF1A. The only way to discover treatment is to immediately accelerate research by convening the world's leading scientists in childhood genetic and neurodegenerative disorders. This collaboration will lead to treatment and increase the quality of life of those affected by KIF1A. It is vital for us to drive science, fund immediate research and find a way to stop the progressive nature of this disease.
Dr. Wendy Chung is a board certified clinical geneticist with a PhD in molecular genetics. She is director of the clinical genetics program at Columbia University and co-director of the molecular genetics diagnostics lab there. In a brief video explaining the work she and her team are doing on KIF1A, she talks about her role in its treatment and research.
"KIF1A is just one of many unfortunately rare genetic conditions. I happen to be a doctor for children and individuals with rare genetic conditions, and my job is kind of to be their Sherpa and to help them along this process to understand what club they're a member of, in other words what their underlying genetic is, and ultimately help them with the care until we get to the point of a cure," She says. "In other words, to be able to keep them as strong and as healthy as possible while, at the same time, working towards understanding what's causing their disease so we can come up with better treatments for them."
" Dr. Chung emphasizes the crucial factor of time in the fight to help her patients. "It's a ticking clock in the back of my head and in the back of the head of all the families, because we do know that we have a window of opportunity that I hope is something like 5 -10 years in terms of when the time a child is diagnosed until we can really be able to stabilize this and give them meaningful life, but every day matters, and that's why we're working so hard to be able to come up with a cure for this." View the video at: kif1a.org/research.html