Clara Gets Support – And Her First Trip to Summer Camp – With The MDA
Although she’s just 6 years old, Clara exudes a brave and caring spirit that proves her to be wise beyond her years – something her mom, Becky, has known for a long time.
“When I brought Clara into my work when she was a very young baby, one of my co-workers told me that she has wise eyes,” said Becky. “And that’s just kind of stuck with me ever since.”
Clara has been through a lot in a short number of years – but you won’t hear her complaining about the tests and hurdles she’s endured. After being diagnosed with muscular dystrophy at age 2, she takes the various forms of therapy she attends 3-4 times a week in stride, and consistently inspires her family with a determination to achieve challenges.
Since the day Clara was diagnosed, the MDA was by her and her family’s side to provide support, assistance and recently – much to Clara’s delight – the opportunity to attend their summer camp.
Missed milestones and MRI results
Aside from her breech position leading to Becky needing an emergency C-section, Clara was born healthy at 41 weeks and went home a good eater and a good sleeper – giving her mom no reason to suspect any health issues.
“But as Clara got older, she wasn’t reaching the milestones she should have been,” remembered Becky. “It started with torticollis – a flat spot on the side of her head from only turning it one way when she was sleeping – so we started bringing her to a physical therapist at six months.”
After months of PT, appointments with an orthopedic surgeon, and water therapy, Clara began to walk at 21 months – but Becky couldn’t shake that there was something bigger wrong than her hip dysplasia and hypotonia diagnoses.
After bringing her concerns to their pediatrician, Becky, her husband Ryan, and Clara went to a neurologist who ordered a brain and spinal MRI to investigate the root of the problem a bit closer. On their way home from the clinic the day of Clara’s test, they got a call.
“I knew it was the clinic calling,” said Becky. “And my stomach just dropped. The nurse asked where we were, and she told us to turn around and come back because the doctor wanted to meet with us to go over the results.”
Testing for an answer
The MRI showed that Clara had a metabolic disorder – which, unfortunately, there are thousands of types – so testing began to gain more information. After many negative rest results, a blood test came back that was done during the MRI and ultimately provided the answer they both wished for and dreaded – she had merosin deficient congenital muscular dystrophy.
“So her body doesn’t produce enough merosin,” added Becky. “Right away, we found out that her case was extremely mild. The doctor was floored with how she presented because she’s ambulatory – she walks, can go up and down the stairs.”
In the meantime, Becky had become pregnant with their second daughter, who they learned through testing did not carry the gene that caused Clara’s muscular dystrophy.
Today Clara encounters some issues with high-intensity activities and keeping weight on due to her body expenditure, but is doing incredibly well thanks in part to water therapy and hippotherapy (equine). With an oximeter, nebulizer, and cough assist from PHS to keep her healthy on a day to day basis, Clara is able to nip many issues in the bud before they become a bigger issue and can focus on other things a six year old likes to do – like learning to braid hair and taking care of her friends.
Present from the very beginning
From the moment Clara was diagnosed with muscular dystrophy, the MDA was present in her life as a beam of support, assistance and community. When genetic testing was needed for their family – a test that is very expensive and often not covered by insurance – it was covered by the MDA.
“Right off the bat, we knew they were on our team and supporting us,” remembered Becky. “This was new and scary, but we had their support. A diagnosis can feel kind of shocking and isolating, so to have an organization there to provide a community and be a resource was a huge relief. “
Because she was six years old this summer, Clara had her first opportunity to go to MDA Camp – a big deal for this smart and social girl. While there, she filled five days and nights with activities, crafts, adventures and fun with other kids just like her who have muscular dystrophy. And because her babysitter from home came along as her counselor, everybody could rest easy that someone who knew her personally was right by her side.
“When we picked her up at the end of camp, we asked if she missed us and she told us that she was too busy to remember to think about us,” laughed Becky. “The MDA fills these kids’ days with so much fun. This is like the Ritz Carlton of camps.”
Many more years of camp may be ahead of Clara, as will many birthdays where she always collect items for an organization – a tradition that her parents started and she decided to carry on. But first she has to think about the next exciting adventure – going into 1st grade this fall, where her favorite subjects are reading, science and math.Originally published: July 21, 2016