Meet Courtney and Nick and their two beautiful daughters, Jamie and Layla. In 2019, both Jamie and Layla were diagnosed with 4H Leukodystrophy (POLR3A).

Jamie

Jamie was born in 2016 and had developmental struggles from about 4 months old, not hitting any of the expected milestones on time. She bobbed her head and shook all the time. She was in physicall therapy by 10 months old and started to catch up some. Jamie developed a nystagmus—a vision condition in which the eyes make repetitive, uncontrolled movements—yet was sitting by 12 months, crawling by 14 months and pulling to stand by 16 months. However, Jamie’s uncontrollable muscle contraction, or dystonia, and ataxia always kept her from standing or walking on her own.

In 2018, Jamie faced many challenges. She was an inpatient at the hospital 5 times, and in and out of the emergency unit countless times for aspiration pneumonia, g tube surgery, and viral infections almost every other month.

Courtney’s mama instincts drove her to research Jamie’s symptoms and condition. Despite being dismissed early on, Courtney was committed to finding answers. Jamie’s neurologist finally sent the family to Atlanta to see a geneticist. About 12 weeks later, they received a diagnosis of hypomyelinating leukodystrophy.

It was heartbreaking to hear the diagnosis and to know that none of the doctors listened. After the news, Courtney and Mike drove to Children’s Hospital of Philadelphia (CHOP) to meet with Dr. Adeline Vandevere, the only doctor in the US specializing in this specific form of leukodystrophy.

Jamie continued to thrive in occupational therapy, physical therapy and speech until late 2019 when she began to decline. By March 2020, she was no longer able to pull to stand, crawl or sit on her own, and had lost all head control and her very limited vocabulary. Jamie’s movements became even more dystonic and spastic uncontrolled movements set in as well.

At almost the same time that Jamie’s parents realized they were dealing with something more than developmental delays, they found out they were pregnant. Layla was born in 2018.

Layla

At about 8 months old, Layla began showing the same symptoms as her sister, Jamie. Her parents decided to have Layla tested and received the same diagnosis of 4H Leukodystrophy.

At 2 years old, Layla is still thriving. But having already experienced Jamie’s decline, Courtney and Mike have constant anxiety not knowing when Layla’s decline will come. Layla already has a gtube because a swallow study showed that she was aspirating.

Looking forward

While 2020 was a big year of specialist appointments and a few hospital stays, including an inpatient tracheostomy surgery for Jamie. Her submandibular salivary glands were also removed during this procedure, allowing for easy access to secretions and a stable airway. As a result, Jamie is allowed to breathe much easier, avoiding the need for a ventilator or supplemental oxygen.

Courtney and Nick never know what tomorrow brings for Jamie and Layla but they are committed to fighting, giving the girls everything they need and helping them live the most meaningful lives possible.