Kylie contacted me in January of '99, and I have enjoyed e-mailing with her. Kylie lives in New Zealand and has recently finished a course at Polytech. I asked her to share her experiences and I appreciated her willing and immediate response.
As a patient with maple syrup urine disease, I have to admit life hasn't always been easy. I was born on August 21, 1979, and was diagnosed with the intermittent form of MSUD when they did the heel prick test at five days old.
The alarm bells sounded when the doctors detected that my blood levels were not "the norm" of a healthy baby. After some analysis and discussion, the doctors discovered that I had a condition known as maple syrup urine disease. When told of the diagnosis, my parents were mind blown: they had never heard of it before and had no idea what was ahead of them.
The doctors explained to them that it was a "rare metabolic condition" that affected 1 in 250,000 babies, and there was a one in four chance of producing a child with the condition, if both parents had one gene for MSUD each. My parents were told that they would be able to manage the condition by following the protein-restricted diet set in place by a dietician, and that I would be called in for regular examinations, which would involve checking my weight, blood tests, and eventually my height. The height and weight check was to ensure that my body was developing at the same rate as that of a "normal" child.
Bear in mind that I now manage my own blood tests by doing a finger prick two or three times before each six-month visit to the hospital. Mum said that in the beginning she found it difficult having to keep track of the amount of protein she was giving me, but after a while she said it was second nature.
From birth to five years of age, I was in and out of the hospital more times than you could count on one hand, or for that matter, on two hands. Anything from an ear infection to a common cold could set me off. After numerous ear infections, the doctors decided to put grommet tubes in my ears to see if that would help combat one problem. It did help.
I have only been in the hospital once since the age of nine, and that was unrelated to my MSUD. I handle illnesses now with just diet changes, and with Mum on my tail, I can't go wrong.
I don't remember very many of my visits to the hospital as a youngster, but I do know that on several occasions the doctors were convinced I wasn't going to pull through. I have been told that at my worst, I would go into a comatose state and would have severe fits [seizures]. My mother tells me that I would arch my back, and there was nothing anyone could do to stop it; they just had to wait for it to pass over. When hospitalized, I would be put on an IV line for my fluid, and my protein intake would be reduced.
Each time I pulled through, both my parents and the doctors were amazed. Mum said when things got really bad she would get down on her knees and pray that I would pull through.
Prior to my birth in 1979, my parents had given birth to a boy called Scott. He was born two years before me. Although he had the same condition, it went undiagnosed at birth. He lived to be just over a year old, and died as a result of an MSUD attack brought on by a routine immunization for the measles.
Since no one knew that he had MSUD, the doctors said his death resulted from a problem with his brain. So they performed an autopsy to try and find out what had gone wrong. It was only after I was born that the pieces of the puzzle fell into place, and they realized they had been off the mark with their previous diagnosis for the cause of death. If Scott were alive today, he would be 22.
MSUD became part of the Guthrie screening tests in New Zealand following my birth and diagnosis. I am the only MSUD patient in New Zealand that I know of. There was a little Chinese baby with a more severe form than I, but I don't think the child survived.
As for me, well, I have made it to 20 years of age. I have been able to gradually increase my protein over the years to 45 grams per day. I only need to take formula when I am sick. One thing is for certain, if it weren't for the doctors at Dunedin hospital - specifically Professor Mortimer, as well as my dietitians, and my parents - I am certain I would never have made it. I owe my life to a lot of people, and I will always be eternally grateful for the help and support in getting me back to full health.