Hacking To Cure Michael
A #CureSPG50 & MIT Hacking Medicine Event
Who Is Michael
Michael was born on Dec 17, 2017 and at the time he was a normal and healthy boy.
At around 6 months of age Michael was not lifting his hands. It was identified that Michael’s head was on the 3rd percentile and he had low muscle tone.
Doctors initially believed Michael might have the Zika virus, but it ended up that he did not have ZIKA, CMV or any other infectious disease.
Michael was then sent to Neurology and had an MRI performed - the results were concerning. A WES report was ordered, and Michael was diagnosed with SPG50 caused by the AP4M1 gene on April 2nd.
Today Michael is a 2 year old little boy who can lighten up any room and has immense joy - but his future remains uncertain
Want to learn more or to support Michael's family than follow the GoFundMe link.
What Is SPG50
SPG50 (Spastic Paraplegia 50): Is a slowly-progressing neurodegenerative disorder that generally presents with global developmental delay, moderate to severe intellectual disability, impaired/absent speech, small head size (microcephaly), seizures, and progressive motor symptoms. Hypotonia (low-muscle tone) develops into hypertonia (high-muscle tone), resulting in spasticity of the legs that leads to non-ambulation and wheelchair reliance. Spasticity may progress to the upper extremities, leading to the partial or total loss of use of all four limbs and torso (tetraplegia).
Signs & Symptoms
Most children with SPG50 have:
• increasing spasticity and paralysis in the lower limbs starting in early childhood
• intellectual disability
• delayed motor development
• poor or absent speech development
• late walking and later loss of the ability to walk independently
• dystonia (involuntary muscle contractions)
• ataxia (impaired balance and coordination)
• seizures including frequent seizures in the setting of fever
SPG50 is inherited in an autosomal recessive manner. The gene that is involved is AP4M1. A gene with a disease-causing (pathogenic) mutation must be inherited from each parent to result in manifestations of symptoms.