Jack was born on November 4, 1998 at 33 weeks. After spending six weeks in the Special Care Nursery, Jack came home on a ½ liter of oxygen. Once home, Jack appeared to be doing well, although he was not an aggressive eater. Approximately three weeks after coming home, Jack had an apneic event and was admitted to St. Louis Children’s Hospital. At that time, it was discovered that Jack had a vascular ring formed by a right aortic arch and an anomalous left subclavian artery.
Surgery was performed to divide the vascular ring and Jack came home two weeks after surgery. Within two days of coming home, Jack was back in the hospital with a partially collapsed lung. At this point, Jack was placed on nasal CPAP 24 hours a day for several weeks. Eventually, Jack was able to be on nasal cannula during the day and CPAP at night. It was also noted during this hospital stay that Jack had an elevated right diaphragm (which was determined to be the result of damage caused to the phrenic nerve during the surgery to divide the vascular ring).
After three weeks in the hospital, Jack came home on nasal CPAP and supplemental oxygen. Again, Jack appeared to be doing well although he did continue to have a difficult time eating. Two weeks after coming home Jack was again in respiratory distress and was admitted to St. Louis Children’s. He was intubated on March 7, 1999. After one week, the first attempt was made to extubate Jack.
After Jack failed extubation, a decision was made to plicate Jack’s diaphragm in an attempt to resolve the constant collapse of the upper lobe of his right lung. Following surgery, a second attempt was made to extubate Jack. Again, Jack failed extubation. At this point, the PICU staff asked for neurology to consult because it appeared that Jack demonstrated low tone and muscle weakness. A muscle biopsy was performed and it was determined that Jack appeared to have an inflammatory myopathy (his CPK was over 2000).
Jack was started on high dose steroids and after several weeks his CPK came down and Jack seemed to have slightly increased muscle strength. Another attempt was made to extubate Jack. When Jack failed this last attempt at extubation, a decision was made to perform a tracheostomy so that Jack could come home. When oral feedings were resumed it was noted that Jack aspirated his formula and a swallow study indicated that Jack had an uncoordinated and weak swallow. Surgery was performed to insert a g-button.
Jack left St. Louis Children’s PICU on June 8, 1999, with a trach, a g-button and hooked to a ventilator. Jack came home from Children’s Hospital on minimal ventilator support and initially, he tolerated being off the vent for up to 10 hours a day. However, attempts to wean Jack off the vent the first couple years of his life were unsuccessful and Jack is currently ventilator dependent 24/7. In 1999, Jack’s muscle biopsy was sent to the Mayo Clinic for review by Dr. Andrew Engle. Dr. Engle’s diagnosis was “myopathy, active, chronic”.
Jack had a brain MRI that revealed that he has moderate diffuse cerebral atrophy and absence of the inferior vermis and cerebellar tonsils. At the age of 13 months, it was discovered that Jack had cataracts. Jack has had the cataracts removed and now has lens implants. Based on the muscle biopsy, the MRI and the cataracts, Jack was diagnosed with a “congenital muscular dystrophy with eye and brain involvement”.
Our family moved from St. Louis to Arizona in 2002. However, Jack continues to receive care from his St. Louis doctors and we travel to St. Louis at least every other year for a week of appointments and routine procedures. In 2005, a second muscle biopsy was performed which revealed that Jack has reduced alpha dystroglycan. I only recently heard the term “Dystroglycanopathy congenital muscular dystrophy” as describing the form of CMD that Jack has. During our recent visit to St. Louis in October of 2008, Jack’s neurologist (Dr. Anne Connolly) suggested that we have Jack’s blood sent to Iowa for genetic testing. The two genes tested – POMT1 and POMT2 – were normal. The plan now is to test FKRP and POMGNT1.
Jack suffers from severe muscle weakness and is much like a quadriplegic. Jack is cognitively delayed, he does not talk and he has been labeled moderately MR. Jack recently got an eye-gaze system that allows him to activate the computer using only his eyes. We are currently learning the system and programming it so that it will be most beneficial for Jack. Jack is homebound and does not attend school. He receives therapy services at home through our Department of Developmental Disabilities.
My husband and I both work full-time outside the home and Jack receives private duty nursing during the day while we are at work. Jack has three siblings, two older sisters and one younger brother. Jack is currently 10 years old and is one of happiest and most loved kids I know. While I would not have chosen this life that Jack and I have been given, I love Jack more than life itself and I will continue to give him all I can at any given moment. Jack defines what is important in life – patience, persistence, contentment, simplicity and unconditional love. He challenges me on so many levels, he keeps me grounded and he gives my life such purpose and direction. What a privilege it is to make a small difference in this world together with one special little boy by my side. A little boy who leads me well without ever uttering a word.
You can follow Jack’s journey on our family blog at www.jack-schrooten.blogspot.com