After a normal and uncomplicated pregnancy, Jacob Dylan Hollingsworth was born on February 3, 2002. His delivery was full of complications: fetal bradycardia (low heart rate), excess amniotic fluid, etc. But, he finally arrived and we knew something was wrong right away. Jacob was not crying and he was very ‘floppy’. He had to be resuscitated and ventilated right away. It wasn’t long after that when we realised what was wrong.
The neonatologist asked my husband and I if we were aware of any familial history of neuromuscular diseases. I knew right then … Jacob had X-Linked Myotubular Myopathy.
My family history with this disease is incredible. My mother had three brothers who all died at birth (although not formally diagnosed, we can now safely assume the cause). My mother’s sister had one son, Shannon, who died shortly after birth and another, James, who died at 17 months of age. James was the first to be diagnosed, but not until he was several months old. He was not given a trach or g-tube until age 1. My mother’s cousin also had a son, Nick, with MTM. He passed away at age 10.
Back to Jacob … On February 7, Jacob underwent a muscle biopsy, which revealed what we already knew. The doctors were so pessimistic and suggested we take him home and ‘let nature take its course’, but we insisted on having him trached and giving him a g-tube. After several weeks of back and forth with the ventilator, CPAP, and a nasal cannula, he had surgery for placement of a tracheostomy and gastrostomy tube and nissen fondulplication. It was the best decision we ever made. Without the trach, Jacob would aspirate his oral secretions. That is why attempts to wean him from the ventilator and CPAP failed.
Exactly 6 weeks after his birth, we were finally able to take him home. With nervous hands and loving hearts, we have succeeded at taking care of Jacob completely on our own. He has had a few minor hospitalizations, but nothing major or complicated. Since January 2003, Jacob has been on CPAP with pressure support at night and during naps. Jacob receives occupational therapy every week and has just been fitted for a custom Kid Kart wheelchair. We have attempted to use a Passy-Muir speaking valve, but he doesn’t like it. He was able to wear if for about 30 minutes, but he developed a cold and couldn’t use it. Since then, he has not tolerated it very well.
We celebrated Jacob’s first birthday on February 3, 2003. It was one of the happiest days of my life. Jacob has obviously succeeded at proving the doctors wrong and I am sure he will continue to do so. He is a very intelligent little boy who knows exactly what he wants.