Author: Kat J. McAlpine

How mitochondrial transplantation saved Avery’s life

Avery Gagnon looks into the camera. She received mitochondrial transplantation to help her heart regain its energy.Today, 2 1/2 year-old Avery Gagnon looks perfectly healthy and happy.

But Avery is only alive today because of a revolutionary therapy called mitochondrial transplantation that used her own mitochondria — small structures in our cells that act as the “batteries” powering our organs — to boost her heart’s energy.

Mitochondrial transplantation comes to the rescue of hearts suffering from ischemia, a condition of reduced blood flow that damages mitochondria. As a result of its energy-sapping effects, ischemia is especially dangerous for the frailest cardiac patients: infants with congenital heart disease like Avery.

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Surviving the unknown: How Type 3 von Willebrand disease made Vasudha’s family stronger than ever

A picture of Vasudha, a kindergartner with Type 3 von Willebrand disease
A recent photo of Vasudha, who is currently in kindergarten.

As soon as Madhu and Sugastha’s daughter, Vasudha, was born, a nurse performed a routine blood prick to check the baby’s glucose levels. Since Sugastha had developed gestational diabetes during her pregnancy, the test was making sure that her newborn daughter’s blood sugar was within a healthy range.

“But then, that little spot on her toe didn’t stop bleeding for more than a day,” Madhu recalls. “The nurses chalked it up to the fact that she was a little baby, kicking her feet around, and that’s why the bleeding wouldn’t let up.”

It was just the beginning of mysterious bleeding events though. Over the first year of Vasudha’s life, her parents noticed strange instances of prolonged bleeding that resulted from small scrapes. When she was 8 months old, they grew concerned when bruises began appearing all over Vasudha’s body for seemingly no reason. Their elder son, Saketh, had never experienced any of this when he was a baby.

“We went to our pediatrician and he told us about the possibility of von Willebrand disease,” Madhu says. “Up until this point, I had heard about hemophilia but didn’t have any other knowledge about bleeding disorders.”

Von Willebrand disease is the most common inherited bleeding disorder — as many as 1 in 1000 babies are born with it — and it affects the body’s blood clotting process. There are several types of the disease; they are known as Types 1 through 3, with Type 3 being the rarest and most severe form of the condition.

“Our pediatrician ordered a blood panel test for Vasudha,” Madhu says. “He called us with the results and said that it was the worst-case scenario, Type 3 von Willebrand disease.”

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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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Solving the mystery of a shapeshifting neck tumor

Jaedin, who had a cervical teratoma, is now 10 years old. He is pictured with a remote-controlled race car this past Christmas.
Jaedin, 10 years old, holds the control for a remote-controlled race car, Christmas 2017.

Amanda Brown couldn’t shake an uneasy intuition that something just seemed “off” throughout her second pregnancy. During a scheduled caesarian section at her local hospital in North Carolina, her instinct proved to be true.

“I had given birth to my first son by C-section so I knew what to expect,” Amanda says. “But this time around, as the surgeons totally stalled in the middle of the delivery, I thought to myself, ‘it doesn’t take this long to pull a baby out.’”

When her son Jaedin was finally delivered, Amanda and her husband were shocked by their first sight of him.

“Jaedin had a huge mass on the left side of his neck that looked like it was growing out of his ear,” Amanda says. “The doctors told us they didn’t know what the mass was and that they would have to take him to a nearby children’s hospital right away.”

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