Both of my sons, Matthew 5 and Maxwell 2, have a very rare genetic disorder called Pelizaeus-Merzbacher disease or PMD. PMD is an extremely rare mother-to-son genetic condition characterized by nystagmus (involuntary rolling of the eyes) and hypotonia (low muscle tone) and eventually spasticity (stiff muscle tone).

PMD occurs in approximately one in every 300,000 births. The boy’s PMD was caused by a gene mutation that was duplicated. PMD affects the formation of the mylin sheaths (the insulation for your nerves) in your brain causing motor and intellectual milestones to be delayed.

The boys will never sit up, stand, or walk on their own. They have limited speech and every muscle in their body is affected in different ways.There is currently no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment, which is symptomatic and supportive, may include medication for seizures and the stiffness or spasticity that most PMD patients have.

Having a special needs child is a journey full of emotional roller coasters. Watching Matthew and Max’s struggles and triumphs has helped me to learn that nothing is to be taken for granted. No matter what they have gone through, they never give up and always have a smile on their faces.

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