Living life with type 1 diabetes: Justin’s story

little boy with an insulin pump

My name is Justin and I’m 9 years old. I’m a Cub Scout and I like to swim, ski, race my bike and play LEGOS — I love being active and hanging out with my friends. But last March, I got some unexpected news that was pretty scary at first. I was diagnosed with type 1 diabetes.

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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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‘Going for it’ with a congenital hand difference

Ashley Murphy Thriving lead image gymnastics

“People ask me if it’s harder to do certain things, and I always tell them, ‘I don’t know, this is all I’ve ever had.’” Despite being born with symbrachydactyly — a condition in which the middle three fingers of her left hand never fully developed — 12-year-old Ashley makes most things look easy. She runs cross-country, plays basketball and even competes on the uneven bars in gymnastics, all with a hand that sets her apart from most kids her age.

“We talk a lot about how everyone has differences,” says her mom, Juli. “I told her when she was little that her hand won’t ever be the same as others, but we can adjust and make compensations so she can do the things she wants to do.” And what does Ashley want to do? The answer to that seems to be almost everything.

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