On November 14th, 2016, after several miscarriages, Heather and Jesse McKee finally welcomed a beautiful baby girl named Ella Rose. With big brown eyes and a head full of dark brown hair, she was exactly what they had hoped and prayed for. Her big brother, Ethan, was in love at first sight.
Ella was growing, as she should, happy and hitting milestones along the way, until over time everything started to feel a little delayed. Ella’s pediatrician was concerned with the fact that she had not hit milestones by her 2-year check-up. Her fine motor skills, along with the inability to stand or walk on her own, prompted testing to be done.
Ella was sent for some blood work and saw a neurologist who ordered an MRI. None of her delays could have prepared them for what lay ahead. On Saturday, April 13th, 2019 Heather and Jesse received a call from the doctor herself, stating she needed them to come in on Tuesday to review the results. The doctor was very vague, and just insisted that she wanted to speak to them in person.
The results they received that following Tuesday, April 16th, 2019 were results no parent should ever have to hear. They were told that Ella’s scans had been sent to and reviewed by specialists at several hospitals across the country. It was with utmost certainty that they concluded Ella has a form of Leukodystrophy.
Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. There are 50 different types of leukodystrophies. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. There are no cures for leukodystrophies, and cases are highly variable, depending on the type. Because of the rarity of leukodystrophies, there are only a few hospitals in the country that specialize in seeing patients with these diseases. The McKee's next step was to be seen at the Children's Hospital of Philadelphia (9 hours from Charlotte, NC and only 1 of 6 hospitals in the US to treat leukodystrophy) to undergo genetic testing using Ella's blood to determine which specific type of leukodystrophy Ella had.
In June of 2019 Ella's doctor's at CHOP confirmed that she has Vanishing White Matter Disease (VWMD). Worldwide there have only been around 300 cases of VWMD and in the United States Ella is just the 10th case with her very specific gene abnormality. This disease mainly affects children and symptoms are highly variable for each case. This disease affects Ella's motor skills, speech, hearing, vision, and swallowing. The disease is progressive meaning Ella's symptoms will get worse over time. Progression of the disease comes quicker if Ella experiences head trauma, infections, or sickness. The typical life expectancy is 5-10 years after diagnosis. There is no cure for Vanishing White Matter Disease. However, in June of 2021 the first ever clinical drug trial for VWMD began in Amsterdam. Unfortunately, Ella was not eligible for this trial because she is not able to walk unassisted.
In short, Ella needs a miracle. Since diagnosis the McKee's have been devastated to know the very real possibility of losing their little girl too soon to this disease. However, they have been extremely grateful for the outpouring of love from friends and family. They were also very fortunate to take a Make-a-Wish trip to Disney World in March of 2020. While the family does have medical insurance, medical expenses are still aplenty as Ella has weekly occupational therapies, speech therapies, and physical therapies. This is in addition to adaptive medical equipment like her specialized stroller, gait trainer, and foot braces. The family also travels to the Children's Hospital of Philadelphia for Ella's care. They are seeking support to help pay for these expenses. Also, knowing their time with Ella is limited they are seeking support to do as many things with Ella that they can, especially while she is still able to enjoy the many things life has to offer. Lastly, because of the rarity of the disease, it is very hard to get doctors and pharmaceutical companies to fund clinical trials and it is typically up to the families of patients to fund such research. If enough financial support can be provided there is the possibility for future clinical research to help Ella.
Ella is continuing to make progress with all of her hard work and determination. She is an extremely happy 6-year-old. She loves her brother, parents, dogs (especially her Ruby), cousins, friends, family, the beach, baseball (and watching her big brother play it), all things Disney, all animals, dresses, and doing make-up.
The McKees are forever grateful for every single person that has helped them along this journey, and they are not losing hope that a miracle for Ella Rose is possible.