Tennessee Fact Sheet
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| Willow was in hospital being treated for dehydration when results from her brain MRI from three weeks prior confirmed she has metachromatic leukodystrophy (MLD). When the neurologist delivered this news, Michelle found out there was no plan of care for MLD. Instead, the doctor simply said, “We will keep her as comfortable as possible.” Michelle and her husband took turns going to the bathroom to break down while the other held Willow and tried to fight back sobs. Before being discharged from hospital stay, Michelle distinctly remembers a moment that occurred while holding Willow in her lap waiting for a procedure. The patient ahead of Willow was a sweet young boy who was diagnosed with leukemia. As Michelle sat there with her seemingly normal child, legs yet to curl, spine yet to curve, voice yet to disappear, all she could feel was jealousy because at least this little boy’s disease had a chance at being treated. Willow didn’t even have a chance. Michelle felt truly helpless. Willow lost all body control within a year. These days, she requires 24- hour care, has the constant threat of asphyxiation, and severe scoliosis. She is happiest when she’s outside and spends time with the people and pets she loves. Her worst days consist of crying, joint stiffness, and neurological pain. Every day is a challenge. Whereas other children meet on the playground, have sleepovers, run around, and enjoy their favorite treats, Willow can’t do any of those things. To Michelle, newborn screening would have made a difference. |
When Raife started showing symptoms of depression late in his twelfth year, his parents, Matt and Heather, assumed this was a reaction to the recent loss of Raife’s grandfather whom he described as his “best friend.” Through the next couple of years, Raife continued to withdraw, and his school grades slipped lower and lower. He was examined by his pediatrician numerous times and his behavior was attributed to “normal” growing pains and teenage hormones. He suggested that Raife was showing possible signs of an attention deficit disorder and recommended taking him to a therapist for further evaluation. Raife spent the next two years with multiple therapists, a psychiatrist and was sent to a mental health facility for a week where he continued to be diagnosed with ADHD and Bipolar Disorder. Medications were prescribed but never showed signs of working. In Raife’s 15th year, the school resource officer reached out to Matt to let him know that he was observing Raife and noticed he was walking through the halls as if he was “drunk.” When questioned, Raife said his bookbag was very heavy and it made him unbalanced sometimes. In March of 2020, schools and Heather’s workplace closed. During the following weeks at home, Heather observed Raife having difficulties problemsolving, following multi-step directions, forgetting information and uneven walking, often up on his toes. Once school resumed, Raife’s grades continued to slip. He truly believed he was accomplishing tasks and homework, but he wasn’t, or he wasn’t fully completing tasks assigned to him. A lover of classic cars, Raife was gifted his “dream car” for his 16th birthday. He was very excited and so appreciative but, the driving lessons didn’t go well. Heather made the decision to change doctors and insist on a referral to a neurologist. After an MRI and several tests, Matt and Heather received the MLD diagnosis over the phone. At the second visit with the neurologist, Matt and Heather were told Raife would most likely be wheelchair bound by the time he was 21. Raife lost the ability to walk before his 18th birthday. Before he turned 19, he had lost the ability to speak and all motor skills and was declining so quickly, Matt and Heather made the decision to enter Raife into Hospice care where he was meticulously cared for and made as comfortable as possible. Raife passed away at the age of 19 on October 10, 2022. Matt and Heather still have Raife’s dream car. Rather than parting with it, Matt decided to focus on restoring it himself and turning it into an MLD Awareness car. Although Raife was never able to see the finished design, Matt and Heather are hoping to show it to others while spreading knowledge and awareness to those, like them, who have never heard of this devastating disease and the impact newborn screening could have had on Raife’s life. To Matt and Heather, MLD newborn screening could have meant they could have done something different |
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