Stories about: Diseases & Conditions

Chloe’s story: ‘It’s okay to be different’

spinal dysgenesis

In a lot of ways, I’m like any 13-year-old: I like to FaceTime with my friends, play with my younger brother Ethan and our three dogs and post selfies on Instagram. I also play clarinet and love to sew, knit, quilt and make other crafts. But I’m different, too — and I want other kids to know that it’s okay to be different.

I was born with spinal dysgenesis, which means that one of my vertebrae was out of place and pinching my spinal cord. As a result of the surgery to fix it, I have a problem called post-operative paraplegia — I can’t move my legs when I want to. I use a wheelchair to get around most of the time. I think of the chair as being part of me, but it doesn’t define me.

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What can I do if there is no approved treatment for my child’s rare disease?

Just one tough question of many asked — and answered — during a social media Q+A held in observation of this year’s Rare Disease Day on February 28. Rare disease specialists, patients and advocates from across the country took to Twitter to offer their firsthand advice for dealing with a newly-diagnosed (or undiagnosable) rare disease. 

If your or your child’s rare disease does not yet have a treatment option, you can get involved in natural history research…

Over Twitter, our story headline and other questions were posed by the National Organization for Rare Disorders (NORD) and The Mighty, a digital health community that empowers and connects people who are facing disease or disability. Dr. Phillip Pearl, who directs Epilepsy and Clinical Neurophysiology and studies inherited metabolic epilepsies at Boston Children’s Hospital, offered his recommendations through a series of tweets from the @BostonChildrens Twitter account.

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Daphne’s story: Lifting the fog on bladder exstrophy

Girl with bladder exstrophy playing at home

The day of their 18-week prenatal appointment was the first day of the most difficult period in Pam and Jon’s life. When the ultrasound technician couldn’t see their baby’s bladder, a second ultrasound was ordered to see if the bladder would become visible with another look. The question remained: Could it be something benign or a serious medical issue?

Pam panicked. Jon tried to stay calm. They had so many questions, plus a 2-year old daughter, their careers and a house to take care of. Their beloved Red Sox were playing in the World Series. Family and friends offered, with the best of intentions, conflicting advice.

The second ultrasound confirmed that their baby would be born with bladder exstrophy, a rare and complex birth defect where the bladder develops outside of the body. No one they knew had ever heard of the condition, not even their obstetrician.

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After Spinraza: My new life with SMA

Kate, who has SMA, out walking on a trail.

When I was 4 years old, I was diagnosed with spinal muscular atrophy (SMA) at Boston Children’s Hospital. My mom will probably tell you that it was the worst day of her life — SMA is a relatively uncommon disease that comes with a lifetime diagnosis, so it caused a level of uncertainty as to what my future would hold.

SMA runs on a spectrum, and I happen to have a less severe case, called type III SMA. I can walk short distances, but otherwise use a wheelchair, and have fairly average strength throughout my body, with the exception of weakness in my legs.

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