We Believe in Unicorns! Amelia’s Hope: MLD
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Greetings!
Thank you for stopping by our page and getting to know us. Money raised is for the benefit of Amelia Myers. Please read on about the life-changing diagnosis of Metachromatic Leukodystrophy or MLD. ~Aunt Jori
Even if you do not intend to donate, help us spread the word about this devastating condition. MLD is an autosomal recessive genetic defect. This means both parents must carry the defective gene in order to have an affected child.
Innovative treatments, including ex vivo gene therapy and enzyme replacement therapy for MLD are being evaluated in ongoing clinical trials. Given these treatments are most successful in pre-symptomatic and early symptomatic patients, we are raising our voices to have MLD added to newborn screening.
Amelia was like any 8-year-old. She played soccer, dressed up as a princess, and collected unicorns. She was bright, funny and with the right amount of sass. She did well in school, despite her left-handedness.
Until she didn’t.
She struggled through distance learning, but a lot of kids did. When she was back in school in the fall of 2021 she continued to fall behind academically and began having staring spells. She was screened for ADHD and Autism and given an Individualized Education Program (IEP). (https://www.hopkinsmedicine.org/health/wellness-and-prevention/staring-spells-when-its-more-than-daydreaming)
As a few months passed and she started having trouble with coordination. She fell several times at school and at home. Amelia was evaluated by an ENT doctor, who recommended a repeat visit to a neurologist. Unfortunately, the wait was several months long.
Near the end of the school year, she had rapid deterioration of motor and cognitive function. Amelia was evaluated at the University of Wisconsin-Madison Emergency Department. (Infection, fatigue, and stress will temporarily worsen symptoms). An MRI revealed a typical pattern for MLD, a diagnosis later confirmed by genetic testing.
This is the story of MLD. Although the condition is rare, this is a familiar story among those affected by MLD. Lost time, lost opportunity, cracks in the system, an 8-year-old fell through.
Amelia turned 9 two weeks after the diagnosis. Out of the hospital, she is doing well. You might even think she’s getting better. She can walk and get on a swing (an absolute favorite pastime). She works hard with Physical Therapy several times a week and tries to do as much as she can. Currently, she has trouble walking, can’t always find the word she wants to use, and gets tired quickly. She is still funny and sweet and will come up with the best one-liners. She loves her family, pets, and of course, unicorns.
Prognosis
It’s difficult to look at Amelia and know the hard road ahead. The family sold their two-story home for a one-level, handicap-friendly ranch house. They continue to make handicap-accessible changes and will do everything they can to help Amelia live her best life. Funds from this campaign will go towards needs such as ramp installation, therapy, and medical expenses.
Learn more about Metachromatic Leukodystrophy (MLD):
https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/ex-vivo-gene-transfer
Organizer
Jori Eidem
Organizer
Rockton, IL