Meet Courtney and Nick and their two beautiful daughters, Jamie (4) and Layla (2). In 2019 both Jamie and Layla were diagnosed with POLR3A / 4H Leukodystrophy.
Jamie was born in 2016 and had developmental struggles from about 4 months old, not hitting any of the expected milestones on time. She bobbled her head and shook all the time and at one-year old Jamie developed a nystagmus, a vision condition in which the eyes make repetitive, uncontrolled movements. She was in PT by 10 months old and started to catch up some. By 12 months she was sitting, 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.
2018 proved to be challenging for Jamie, being inpatient at the hospital 5 times and in and out of the ER countless times for aspiration pneumonia, gtube surgery, and viral infections almost every other month.
Courtney’s mama instincts drove her to do some research on Jamie’s symptoms and condition. Despite being dismissed and feeling helpless, Courtney was committed to searching for 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, or 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 OT, PT and speech for a combination of 5 therapies a week until, late 2019 when Jamie began to decline. By March 2020, she was no longer able to pull to stand, crawl, sit on her own, had lost all head control and her very limited vocabulary that she did have. Jamie’s movements became even more dystonic and the 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 and Layla was born in 2018.
At about 8 months old, Layla was showing the same symptoms as her sister, Jamie, and her parents decided to have Layla tested as well, ultimately receiving the same diagnosis of 4H Leukodystrophy.
At 2 years old, Layla is still thriving, doing all the things Jamie use to be able to do. But having gone through a decline once, 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.
2020 has been a big year of specialist appointments and a few hospital stays including, inpatient with Jamie for tracheostomy surgery as well as removing her submandibular salivary glands. This allows for easy access to secretions as well as a stable airway which allows Jamie to breathe so 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 to give the girls anything they could ever need and to live the most meaningful lives possible.