"Is it October 17th yet?” Ava has been waking up every morning for WEEKS asking this question. That’s because today was Parade 2 Uplift, a special day when CC4C friends throw personalized car parades for each Champion Child! Because she is immunocompromised, Ava and family are still social distancing.
Last year, Ava’s parade was featured on CBS and she told us afterwards that it felt like the night before Christmas! So she knew just what to expect this year. What a thrill to be able to CELEBRATE AVA again today!
“Ava is our miracle,” says Jessica, mom of CC4C child Ava. Ava was a dream in her parent’s hearts long before they ever held her in their arms. After almost a decade of infertility and being told the chance of pregnancy was nearly nonexistent, Ava was conceived naturally and was strong, healthy baby when she was born.
Ava was quick to smile, loved to belly laugh watching her cousins dance, and said her first word (dog!) at an early age. She was on track developmentally, though her hips would pop and it felt like her shoulder joints would slide out of place. At around 6 months, Ava started having trouble meeting some gross motor milestones. She started physical therapy a short while later to address hypotonia and hypermobile joints.
Ava worked hard in physical therapy to meet milestones, even if she fell often (or “dropped herself” as she would say as a toddler) and sustained several fractures. Doctors thought perhaps Ava had muscular dystrophy or Ehlers-Danlos Syndrome, though some of the tests raised more questions than they answered. She also had ongoing anemia that didn’t respond well to treatment which resulted in multiple bone marrow biopsies.
It was a fellow CC4C mom, Tarah, who shared some insights that helped lead to Ava’s diagnosis. Community is so important to turn to for resources! After reaching a dead-end with genetic testing at the time along with increasing symptoms, Ava had a muscle biopsy with results that suggested Mitochondrial Depletion Syndrome. While there isn’t a cure, a “mito cocktail” of vitamins and co-factors has boosted Ava’s energy levels and hopefully helps to reduce free-radical production. With this information, her parents know to take swift action if she’s ill to avoid complications, and they also know which mito-toxic medications to avoid.
Even through various procedures and a multitude of appointments, Ava maintains a positive attitude, and she’s full of grace and faith. She’s an enormous blessing and a miracle indeed!
Ava was born without complications and was developing on track. After 6 months, she started having trouble meeting her gross motor milestones and dealt with joint hypermobility, hypotonia, and sustained 3 fractures. She's had ongoing anemia that didn't respond well to treatment and resulted in multiple bone marrow biopsies.
Given her falls and worsening core strength, lordosis, and other concerns, Ava had a muscle biopsy that led to her diagnosis of Mitochrondrial Depletion Syndrome at age 4. This diagnosis was able to explain many of her growing health concerns such as hydronephrosis, cyclic vomiting syndrome, and heart block.
Despite these complications, Ava is a bright, sweet girl with a disposition full of sunshine and grace.