My partner and I were blessed with our little soldier Vinnie on December 8, 2008, the same birthday as me, his dad. We sat in the hospital happy as can be, thinking this is a start of a new life, and what a miracle Vinnie was everything we wanted. We left the hospital two days later to introduce him to the family. It felt amazing as we cuddled up in bed looking at our newborn son.
Two months down the line, we were worried when Vinnie kept holding his breath for long periods of time. We took him to hospital and they discharged us saying he was fine, and that is just what newborn babies do. We were happy to hear that, because sometimes first-time parents do panic.
About a week or so later, we had just fed Vinnie when he began acting strange, going pale and heaving. We rushed him to the hospital but on the way there, he started to have a seizure. Three hours later, they finally helped stop it. He had many tests and scans, but once again, we were sent home after a few days after being told it was a one-off seizure that may not occur again.
The next day, the morning of Friday the 13th, Vinnie started to have a seizure again. So we went to hospital again! This time, the seizure lasted seven hours and they couldn't stop it. This resulted in putting him asleep, and then he was brought to intensive care. My partner and I were devastated, and didn't know what to do. We had social services hassling us by asking many questions. All we were worried about was Vinnie. He finally came around after a couple of hours and he was trying to pull the tubes out of his nose and mouth.
We had tests done day-in and day-out, but nothing was found. When Vinnie was born, we had told the hospital from day one that there was a risk of Menkes disease as my partner's mother’s brother had it. But they told us that they were 100% sure that he hadn't acquired Menkes disease. They were wrong! Since the day he was finally diagnosed, he has been treated for seizures and takes medicine twice a day. He takes KEPPRA, PHENABARBITOL and CLOBIZAN; the medicine helps, but he still has minor seizures.
Vinnie has just turned one and he is the most beautiful boy we've ever seen. As all Menkes parents know, it is difficult to cope, but we all pull through because we do what's right for him. I have recently made Vinnie his own stimulation room and he loves it. Lots of lights and other things that are good to exercise his brain and concentrate on. He is doing well for now, and that's the way we want it to be. He is unable to hold his head up or stand, but we consider him a little boy, not a baby anymore as he has very grown up features. I hope there will be a breakthrough to help cure Menkes disease, as all of Vinnie’s other conditions can be treated. Please feel free to share information and ideas to help Vinnie and I will try my best to help others. Thanks for reading our story and all the best for you in the future.
From Ian and Clare
Posted: December, 2009