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Nimai's Story

Since Nimai was born, he has had major health complications. He was born with heart problems, his little fingers were crooked, he had small testicles, and a small chin. These symptoms saw Nimai being sent off for genetic testing. The diagnosis was 48XXYY a very rare syndrome, the hospital had only heard of one other patient in NSW with the condition.  To get information on the condition we were told the best place to look was online.

 

It was very hard for us as Nimai was hospitalized for the first two and half months of his life.  Every week we were told that Nimai had something else wrong with him.

 

At two months old we were told to turn off Nimai’s life support machines and let him go. We refused; he is now 14 years old.

 

As a young man now, he has a lot of struggles before him, especially to gain independence.  At present, Nimai is in a support class at school, because he is very delayed in his studies. It took us four years for him to get approved for this class, which meant a lot of learning years wasted.

 

Having 48XXYY means that Nimai does not have many friends in his age group, he also suffers from dental, eye, and bladder problems.  He is double jointed on both his elbows and with the heart defect he is not able to participate in contact sports. At present his heart is ok, but more surgery will be required.  The doctors are putting it off until it is needed.

 

The genetic department of the children’s hospital saw him initially, but there has been no follow up. A few years ago a meeting was held in Sydney with doctors and all boys and families of 48XXYY. This was the first time we met 12 of 13 boys who have this syndrome in Australia.  It was great to meet them all and share stories.  USA always has symposiums & things planned for 48XXYY patients. I believe Australia does not offer the same amount because 48XXYY and rare diseases are not a priority here.