My Boys and Masa Syndrome

May 19, 2016

In 2007 I gave birth to my first son. The labour was very long and he was not breathing. Eventually he was stabilised and a few days later we were able to bring him home.
His hands where deformed and he would need physiotherapy from birth. As time went by he was not reaching his milestones.
More and more doctors and hospitals got involved and he had many genetic tests completed– all coming back fine!
At 3 1/2 years old we eventually met a professor who had recently read an article on Masa Syndrome. We diagnosis was confirmed and we were told how rare it was and we were told that  I could be a carrier.

Tests later confirmed I was a carrier and that I could pass the disease onto any of my children. There was a 50% chance for a male presenting with the condition and 50% for a female becoming a carrier.
I then found out I was pregnant within the same week! We declined all tests apart from a 6 week blood test to confirm the sex and went ahead with the pregnancy. My second son was born in 2011 and he also had Masa Syndrome. Masa Syndrome presents with learning and physical disabilities, abnormal brain scans, delayed or no speech and abducted thumbs.
We hope one day that further research will occur and slow down the physical deteriation of this disease.

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