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Obtaining a Rare Diagnosis

Last updated 24 Aug 2019, 10:39 PM

For Danny and Nikki Miller, the search for answers on a mysterious illness that afflicted their two boys, Carson and Chase, was daunting.  Initially, there were no indications that anything was amiss. After 7-8 months, Carson’s movements and developmental milestones weren’t matching up with other kids his age.  His movements seemed stiff, he wasn’t crawling, he didn’t vocalize much and his hands fisted quite a bit. Cerebral palsy was suspected. Later, after a second child Chase was born, the same pattern of developmental delays reappeared.  At this point, Danny and Nikki became very worried. They spent the next two years seeing different specialists with their two boys and getting no answers. Genetic screening, including panel testing, karyotyping and whole exome sequencing was performed with inconclusive results.     

In 2017, the Marin County, California family turned to the Stanford branch of the NIH Undiagnosed Diseases Network for help.  There were visits with a geneticist, neurologists, a neuro-opthamologist, and blood and skin samples were taken. Whole genome sequencing of all four family members was performed and the mystery began to unravel.  A diagnosis of an ultra-rare neurodegenerative mitochondrial disease, MEPAN Syndrome, was established in early 2018. The syndrome is so rare that only 13 patients are known worldwide.

The diagnosis was only an initial step in a continuing journey.  There is currently no established treatment for MEPAN Syndrome. The Millers have connected with other MEPAN families to compare notes on managing their lives and coping.  The boys are taking a regimen of vitamins and supplements to try to slow the disease down, and are undergoing physical and speech therapy to strengthen their motor skills. Ultimately, it is hoped that the diagnosis will lead to effective treatments that can improve the lives of the boys, as medical understanding of the condition advances.  

The boys, despite being wheelchair bound and unable to speak, wake up every day with brilliant smiles.  They attend a mainstream elementary school, but require aides to help them with mobility and classwork. They communicate using electronic AAC (augmentive and alternative communication) devices.  Their receptive language ability is great as they enjoy interacting with each other and kids their age. Carson is a Harry Potter fan and enjoys watching gaming videos; Chase is more rough and tumble and loves to be outside.  Despite their different personalities, the boys are very close and empathetic towards each other.

For Nikki Miller, the journey has been filled with hope, but also dips of grief, despair and powerlessness.  The world with special needs is uncharted territory, so the family forges on to find a unique path forward. Says Nikki, “As a mom, all I ever want for my boys is to be able to enjoy their life and feel good about who they are.”  She has worked tirelessly dealing with red tape and jumping through administrative hoops to see that Carson and Chase have access to therapies, equipment and insurance coverage, on top of taking care of most of the boys’ day-to-day needs.

For Danny Miller, the diagnosis has led to a fact-finding mission, reaching out and engaging with researchers, experts, clinicians and support groups.  These efforts have resulted in the establishment of the MEPAN Foundation to focus attention on this and similar disorders. MEPAN, which stands for mitochondrial enoyl CoA reductase protein-associated neurodegeneration, is associated with the MECRgene, which encodes an enzyme that catalyzes the elongation of lipids needed for proper metabolic function.  Mitochondria are the essential energy-producing powerhouses inside every cell. One aim of the foundation is to bring together research efforts for several similar mitochondrial rare diseases in order to help accelerate progress towards treatments.  For a more detailed summary, visit the https://www.mepan.org webpage.

Danny offers some advice to rare disease families.  Says Danny: “Find doctors and researchers willing to engage you as a peer to listen to and respect your opinions.  Early on I was told by another rare family advocate to not wait around for anything. If somebody isn’t giving you what you want, go and do it yourself.  All Nikki and I want is to give Carson and Chase the best quality of life possible. We’ll go to any length to do that. I hope that someday we can look back and say that we truly made a difference for our boys, and helped others along the way too.”

To facilitate the exchange of information as more is learned about MEPAN Syndrome, Danny has started a community page on RareShare (https://rareshare.org/communities/mepan-syndrome).  All who are interested, including patients, family members, researchers and medical providers, can join the community.  

 

 

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