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Luke Rosen

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Playing the Rare Disease Card


By Luke Rosen


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 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.

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 waves at every passing baby. Sitting on the puffy, vinyl waiting room 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. 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 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.

9 comments on “Playing the Rare Disease Card

  1. Joilé Faru says:

    It pains me so much to know you all are going through this, but I want to know. Thank you for writing about it and sharing these experiences. Love you and SJ. You’ve always been such role model parents, and here again in this devastating situation you find strength and focus to continue to be the best, all while acknowledging the way you draw on the super powers of the gorgeous, compassionate, and wise children you share. I am with you from afar. Thank you again for sharing and letting me be here, there, not close enough, but not so distant either. LOVE


  2. Angela says:

    I have a dear family member who’s 18 month old was just diagnosed with a single mutation of KLF1A. I’m wondering if there is a way to put her in touch with you and others who would be able to provide information or support. Thanks for your consideration. Angela


    1. Luke Rosen says:

      Hi Angela,

      Your friend is lucky to have you in their corner – please do pass along my email address: I’m happy to be in touch.
      Best, Luke


      1. Angela says:

        Thanks so much. Her outstanding mother has already found you. 🙂


  3. Briana says:

    Enjoyed this article! I have a step daughter who was just recently diagnosed with this disorder after searching for answers for 6 years. It is a struggle trying to explain what she has per doctor visit. I’ve been trying to research sites and blogs of other parents experancing the same thing. If you have any recommendations for me, please don’t hesitate to email me


    1. Luke Rosen says:

      Hi Briana,
      So sorry to hear about your step-daughter’s diagnosis. There’s a lot of information on our site,, including a link to the Facebook family support group. All the best, Luke


  4. Paul says:

    Lovely writing Luke. All best to you. Paul


  5. John Jackson says:

    Eloquent and heart-wrenching.

    Other than spread the message, how can we help you?

    Ellen and I send our best wishes and prayers to you, Susannah, and of course, her Mom.


  6. Susan Hanson says:

    Luke, your dear mom-in-law is my oldest friend from Spooner, WI and so I am aware of your family’s struggles. It is good that you can write about Susannah and share with us some of what life is like in your reality.
    Blessings come in many forms. Some are clear to see and others require a bit of heartbreak to show us their gifts. Love to all of you, especially little Super Girl. Susan Belter Hanson


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