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Go to our August 2001 Update... Our son, John, was born in Houston on April 4, 1989 -- opening day of the Astros' 1989 season. Neither John nor the Astros got off to a good start. John was born completely floppy, he could not draw a breath. He was ventilated almost immediately and spent his first 78 days in a neonatal ICU -- first at Women's Hospital of Texas, later at Texas Children's Hospital. At around the age of seven weeks -- still with no diagnosis -- it was apparent that John was not going to get off the ventilator anytime soon. So, after much soul searching, we agreed to surgery for a tracheostomy, a gastrostomy, a fundoplication and a muscle biopsy. The muscle biopsy provided the diagnosis: myotubular myopathy (centronuclear myopathy). It also solved a mystery from over 20 years earlier. Pam's sister had lost a son shortly after birth in 1967 in the same medical center. Examination of the autopsy report showed myotubular myopathy. This fact combined with other family history (Pam's mother had five healthy girls but lost two sons shortly after birth) proved that the disorder was x-linked. It is worth noting that the geneticist making the diagnosis was Dr. Gail Herman. Dr. Herman (now at Ohio State University) has subsequently made myotubular myopathy one of her main areas of research. On June 21, 1989 when we were preparing to take John home, we were told to expect the worst. According to available literature, which was far from current in 1989 and is totally obsolete today, 95% of affected boys die within the first year of life -- usually of respiratory distress. But what of boys like John, who had a tracheostomy and were going home with a home ventilator and home nursing? Also, since this disease is so rare, we were told we were probably the only ones out there. A few years later, after being matched up with another family through Dr. Aida Metzenberg (now at California State University at Northridge) and with several more through the magazine Exceptional Parent, we started this little resource group. The information you see on this website is the product of that group. John is now eleven. He still has a tracheostomy, a gastostomy button and still has some home nursing. He breathes with the help of a ventilator at night and when he's sick. He needs a power wheelchair to get around and must be watched at all times lest he fall prey to a life threatening choking spell. Scoliosis was a severe problem. He also attends conventional seventh grade, makes straight A's, loves to watch Who Wants to Be a Millionaire, play Nintendo and Play Station with his friends. For many years he was active in Cub Scouts, receiving his Webelos badge. John has a good quality of life. He cracks jokes, some funny, some silly. He has friends. He has fun. We have fun. The last eleven years have not been a cakewalk by any means. There have been a lot of sleepless nights and a lot of tears. Our lifestyles have changed more than we could have ever imagined. And we couldn't have gotten this far without a little help: We would like to thank:
It hasn't always been easy but it's definitely been worth it. John is an inspiration, he's among the bravest people in the world. He's our son and we love him. Gary, Pam & John Scoggin As the Spring of 2001 progressed, so did John's scoliosis. Our original plan was to have scoliosis surgery on June 5, 2001; however, John's scoliosis became so bad -- and impeded his breathing so much -- that we moved the surgery up to April 17. In the weeks leading up to the surgery, John had become essentially vent dependent and was unable to attend school. The surgery, by Dr. William Phillips of Texas Children's Hospital in Houston was a resounding success. John's curve was corrected from an angle of almost 80 degrees prior to surgery to an angle of 12 degrees today. His breathing is much better, he is putting on weight and looks and feels much healthier. In the surgery, the vertebrae from T-2 to L-5 (i.e., just below the neck to just above the pelvis) were fused and two stainless steel rods were implanted. The original plan was to secure the rods and complete the fusion to the pelvis; however, John's muscles bled excessively during the operation and this part of the surgery was called off. (According to Dr. Phillips -- who has done this surgery hundreds of times -- neuromuscular kids often bleed worse than most children. This is due to the inability of the muscles to pinch off the severed capillaries and slow the blood loss. It is Dr. Phillips' opinion that John's blood loss was severe enough that he would not survived the additional time it would have taken to anchor to the pelvis.) We have spent the summer of 2001 recuperating. Although our hospital stay was only a week, it took several months for John to fully recover from the surgery. During much of the post-recovery period, John was on the Pulmonetics LTV-950 vent while in his wheelchair. This vent is very small and portable but it does tend to cause problems due to excessive drying of the lungs. By mid-summer, we were generally back to our normal routine of being on the vent at night and while lying down. As the summer draws to a close, we are getting ready to start seventh grade (a new school). Adolescence is hell for all kids but even worse for those that can't always go where the other kids go and do what the other kids do. Dealing with this will be our next set of challenges....
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updated 05 August 2001 |
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