Hacking To Cure Michael

A #CureSPG50 & MIT Hacking Medicine Event

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Who Is Michael

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Michael was born on Dec 17, 2017 and at the time he was a normal and healthy boy. 

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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.

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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.

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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. 

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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
• microcephaly
• 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

 

Causes

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. 

 

When & Where

February 22nd, 2020

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Toronto

London

San Francisco

Washington

Boston

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Online

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Barcelona

 

Challenge

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If this was your child and you made it your mission to cure him/her with a translational therapy in 18-24m what would you do?

Challenge

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If this was your child and you made it your mission to cure him/her with a translational therapy in 18-24m what would you do?

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Want to be a mentor? Email us your details and why you would be a good fit!