WRIGHTWOOD – A Wrightwood couple is at a loss after two of their four children were diagnosed with a rare and fatal genetic disorder. Two of their girls who are only 8 and 6-years-old have been diagnosed with Niemann-Pick Disease Type-C, also known as Childhood Alzheimer’s. Most have never heard of this disorder since only around 500 cases have been diagnosed worldwide. The disease is believed to affect more, only diagnosis is often difficult or delayed with many being diagnosed with a learning disability, mild retardation, clumsiness, and/or delayed development of fine motor skills.
The family has four children, Brynne, Kendall, Devun, and Wyatt. Brynne who is 8-years-old according to her parents was a normal baby and toddler with normal development. In preschool, they noticed that Brynn was having a hard time retaining information learned. Now Brynne has further digressed to the point where communication and other normal daily skills are becoming difficult or even impossible at times. Kendall who is gentle and loving according to parents Julie and Gary, had constant pain for around a year and at the age of four, she was diagnosed with Crohn’s Disease. The family thought that this was the worst of their medical news for their children, but they also noticed she was having trouble clearly speaking and learning.
Although teachers felt the girls would catch up, they knew something was not right. They went to Loma Linda University hoping that they can find some answers to their many questions relating to their daughters. Therapy’s led to tests and follow-ups and as the parents desperately hoped for a simple answer, they were still worried that maybe there would not be a simple diagnosis and treatment. Brynne was seen by a pediatric neurologist in December 2016, he watched and admitted her to the hospital for tests, but still they were left with more questions than they were answers. Kendall met with the doctors in April and the doctor quickly was able to figure out the cause of the many concerns. “After noticing some similar early symptoms in Kendall he said words I’ll never forget, “this changes everything”, said Julie Moore on the Go Fund Me. “From that moment forward he knew of a specific test that he would do to confirm what he suspected, Niemann-Pick Disease Type C.” Gary and Julie anxiously awaited the results while learning about the disease. A few weeks later, they found out that both Brynne and Kendall had Niemann-Pick Disease Type C.
When learning about the disease, the most difficult part was learning that there is no treatment or cure that is FDA approved at this time and that the disease is always fatal. Most children die before they reach 20-years-old, many before the age of 10. With late-onset it extremely rare that they reach 40-years-old. The family is hoping to get the girls into late-stage experimental treatment to help save the girls or at least slow the progression of their disease. The treatment is not easy, but if it is what it takes to help lengthen the girl’s lives with a better quality of life, Gary and Julie will choose that if they are approved. The treatment will require treatment every two weeks, where the girls will be put under anesthesia. “The financial and emotional toll of this will be immense,” said Julie on the Go Fund Me account. “We are anxiously and gratefully awaiting approval of our “compassionate use” application so our girls can get access to this life-saving treatment.” Compassionate use is for seriously ill patients being referred to use unapproved drugs/investigational drugs when there are no other approved treatments available.
The family knows that the medical expenses including travel expenses, food, lodging, uncovered medical expenses, as well as other expenses will be difficult to keep up with and are reaching out for help. “Now with our girls having this fatal diagnosis our world has truly been shattered and we need help to pick up the pieces to be able to put life together and focus on giving the girls treatment,” explained Julie. “We are humbly asking for your help and cannot do this alone. We will be persistent to help find a cure and determined to help raise awareness through your help.”
Julie Moore has started a Go Fund Me Account in order to assist with the expenses while attempting to save her two young daughters. She has also started a Facebook page to follow Brynne and Kendall’s treatment and to provide awareness of Niemann Pick Disease Type-C.
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