Parents of Charleston-area child with rare disease urge genetic testing
Miniature stuffed animals dangled and danced on a circular mobile that slowly spun over 1-year-old Ellison Burns' crib, the mid-afternoon sun filtering through the pink curtains and bathing the room in a rose-colored glow. A row of block letters spelled out her name in pastel colors on an adjoining wall, near a cloth bib embroidered with the words “Daddy's girl.”
Want to help?
What: Poker run to benefit Ellison Burn
When: Aug. 31. Registration at 10 a.m. and event goes until 2 p.m.
Where: Low Country Harley-Davidson, 4707 Dorchester Road, North Charleston
Rain Date: Sept. 7
For more information: See the Ellie's Army Motorcycle Rally & Poker Run page on Facebook.
Young Ellie's room might look like dozens of other nurseries around Charleston if not for the bank of machines that lie close at hand, giving one the feel of a pediatric intensive care unit. Tubes and monitors, vacuum hoses and air masks — a battery of medical gear to help her breathe, eat and clear her tiny throat.
It's been this way since December, when doctors diagnosed Ellie with Spinal Muscular Atrophy, a rare motor neuron disease that causes muscles to grow weak and waste away, leaving her unable to crawl, walk, swallow or lift her head.
The disease affects only about one in every 6,000 babies, and Jonathan and Megan Burns couldn't quite process the news when doctors told them their precious Ellie was in that minority. What's more, she had a severe type of SMA that often claims children before their second birthday.
“It was devastating,” said Jonathan Burns, a Charleston police officer. “The doctors all said it was SMA, but you don't want to accept it. You feel like your whole world has ended.”
A genetic test at the time confirmed that both Burns and his wife were carriers of Spinal Muscular Atrophy, meaning their child had a 25 percent chance of contracting the disease. There had been no history of the disease in their families, and they had been unaware they were among the one in 40 people out there who are carriers.
No one told them that genetic screening — done with a simple saliva swab or blood test — was even an option when they were trying to conceive. Had they known about the test, they might not have gambled on a pregnancy, Jonathan Burns said.
If nothing else, the results would have better prepared for them for possibility of having an SMA baby, the challenges and costs that lay ahead and the proper way to care for a child with the disease, Megan Burns said. That's why they've now made it their mission to encourage other prospective parents to seek out early genetic testing.
“The way I see it is this happened to Ellie and we can't change that,” Megan Burns, a civil engineer by trade, said. “But maybe we can keep it from happening to someone else. That's really important.”
Such testing is voluntary, and medical professional organizations disagree on the need for widespread prenatal or preconception screenings for SMA, as it does not occur as frequently as diseases such as Down Syndrome, for example.
But Dr. Alison Dillon, an Ob/Gyn affiliated with Roper Saint Francis Healthcare, said the Burns' story illustrates the importance of couples discussing their plans for pregnancy and screening options with a physician.
Insurance doesn't always cover prenatal screenings, and the cost can range from several hundred- to several thousand-dollars, Dillon said. Screenings can significantly reduce the chance of having a baby affected by the disease and allow would-be parents to explore all of their options, she said.
“This is a rapidly evolving field and their ability to test for diseases is improving every year,” Dillon said. “The tests are getting better and the costs are coming down. I think five years from now, that (the cost) is going to be a non-issue.”
Jonathan and Megan Burns first noticed something wasn't right about two months after Ellie was born, and the signs became clearer as she grew older. Ellie didn't lift her head. She didn't lift her legs and try to touch her feet. In fact, her legs didn't seem to have much strength at all.
Finally, in December, the couple received the diagnosis that changed everything.
Though stunned, they didn't have time to feel sorry for themselves. Ellie needed care and attention. She needed them.
“It's the worst news any parent can get, with the doctors telling you your child is only going to live to be 2 years old,” Megan Burns, 27, said. “But nothing changed in the minute of that diagnosis. Ellie wasn't gone. She was still here, and we didn't want to waste any time at all that we had with her.”
In the months that followed, the couple devoured everything they could find about the disease, reading books and articles, consulting with doctors and seeking out other families dealing with Spinal Muscular Atrophy. In the process, they became experts in a disease they'd barely heard of nine months ago. They've learned the potential dangers that confront Ellie and the intricacies of her care, from clearing her breathing passages to feeding her through a tube.
“Now it's normal, it's our routine,” Jonathan Burns, 29, said. “ We could probably go to a hospital now and do a lot of what nurses do.”
They have insurance, but it doesn't pay for everything, and caring for the disease is costly. One portable machine to help Ellie breathe freely on outings is expected to cost them about $7,000. That's why their friends have formed a group called Ellie's Army to raise money to help pay for her care. Their first fundraiser is Aug. 31.
On a recent afternoon, Ellie lay on a posh rug in the living room, her eyes darting between a pair of strangers chatting with her Dad and a Baby Einstein video entrancing her with interesting shapes and the strains of classical music. She'd been a little cranky, with some new teeth pushing through, but she still managed a little smile as she clutched a favorite red feather in her dainty fingers. She seemed to miss nothing.
Though her body rebels against her, Ellie is smart as a whip, almost as if her mind is compensating for all that she has lost physically. She distinguishes shapes, the difference between animals and various cues. She thrills to the fish in the South Carolina Aquarium, the warm breeze on an outing with her parents and their dog Tuxedo, the chance to just be a kid at a RiverDogs game.
The Burnses are determined to give Ellie a happy childhood and give her every chance to live as long as she can. Advances in care for SMA babies have helped a good number live past their second birthday, some reaching 5 or 6 years old. Research is ongoing, and some promising drugs are in clinical trials. Ellie also seems stronger than many, as evidenced by her ability to still breathe on her own. So her parents keep searching for new treatments, new ways to give her an edge over the disease.
“The condition is heartbreaking,” Scott English, Jonathan's close friend and former partner on the police force, said. “But I think its actually brought them closer as a couple, being together in this fight.”
There are no guarantees, and each day brings its new set of challenges. But for the Burnses, it's about cherishing each moment they have with Ellie, each chance to make a lasting memory.
“Despite everything, Ellie is the best thing that's ever happened to us. She's brought us so much joy and taught so much about what is important in life,” Megan Burns said. “You see so many parents taking for granted the time they have with their children, talking on their phones and ignoring their children. They don't realize just how blessed they are to have that time.”
Reach Glenn Smith at 937-5556 or Twitter.com/glennsmith5.