Benjamin’s story

benjamin2Following seven weeks of preterm labor, Benjamin was born at 37 weeks on May 2, 2002. I felt that something was wrong since he never latched on while nursing, did not seem to suck or swallow, and did not seem to have appropriate reflexes. I was reassured that he was just a “sleepy baby,” and had passed all his examinations. One day later, while still in the hospital he suffered a cardiac arrest in my arms. He was rushed to the NICU and revived after 20 minutes of no signs of life. He recovered slowly only to arrest again 4 days later after pulling out his own ventilator tube. He was again revived after 15 minutes. He continued to desaturate ( oxygen level dropping) without obvious cause. Many tests were performed with no definitive results. At 4 weeks a tracheotomy, gastrostomy and Nissen Fundoplication were performed. The trach resolved the saturation issues. An MRI showed that only the brainstem had an abnormality. He sustained liver damage and had a severely abnormal EEG. He also had seizures following the arrests.
After six weeks of learning how to care for Ben’s specific needs, we brought him home from the NICU. We originally had 50 hours of home nursing per week but it was increased to 90 hours when it was discovered that Ben had developed hypertrophic cardiomyopathy at 3 months of age. The myopathy resolved with blood pressure medication. Ben’s constant respiratory distress had led to high blood pressure that had enlarged his heart. Ben was connected to humidified air and c-pap whenever asleep or sick to prevent secretions from pooling in his lungs. It was an unconventional use of the C-pap but it worked for him. Keeping water from collecting in his tubes or lungs was a constant struggle. Ben bounced in and out of the hospital for the next three years with several cases of pneumonia and other infections. We discovered early on that a g-tube fed diet of only Pediasure was not right for Ben. He had turned orange from all the vitamin A. With the help of his dietician, we developed a mix of our own.
Ben really wanted to communicate and clung to every bit of sign language we could teach him. He began using a passy muir speaking valve at around 1 year and slowly worked up to wearing it full time while well. He has always functioned very well cognitively, yet, was physically delayed in all areas. He eventually learned to roll but never crawled. He walked by 17 months. He had a muscle biopsy to look for genetic issues, but none were found at that time. He had his tonsils and adenoids removed at 22 months. EMGs were non-diagnostic at age 2. He received developmental, occupational, speech, nutritional, and physical therapy in our home for his first three years. A week before his 3rd birthday, after sleep studies, swallow studies, and observations were passed at an acceptable level, Ben’s trach was removed successfully.
Following the decannulation, Ben thrived and we hoped his troubles were behind him. He attended school and continued to make gains in physical development and speech. We discovered he needed glasses for depth perception at 3 ½. He was swallowing well enough to have his g-tube removed by age 4. He became a big brother to a healthy little brother, Alex.
He continued to struggle with respiratory issues mostly in the form of asthma and was frequently ill. He has had many ear infections/ tubes and hearing loss that recovers after the placement of new tympanostomy tubes (ear tubes).
Due to respiratory setbacks and suspected seizure activity at age 5, we half-heartedly continued to seek a diagnosis. We planned to visit Dr. Engle at Mayo but CMA results from Baylor seemed to rule out that path. So we accepted the label of static encephalopathy with hypotonia knowing it didn’t exactly fit. We learned his vision problems were much more extensive and he began vision therapy to try to strengthen his eye muscles. He is near sighted, has ocular motor dysfunction with saccades, astigmatism, right refractive amblyopia, poor depth perception and convergency insufficiency. But he can read!!
By age 6 Ben’s right hip had moved out of its socket and he suddenly began walking on the right side of his foot. Eventually he began falling often and preferred crawling or knee walking. At this time he also became incontinent of bladder. He had a spinal MRI to check for a tethered cord. We were told it was a normal scan. We went ahead with surgery to correct the foot in August of 2008 (tendon transfer, osteotomies). Ben’s recovery was more difficult than expected and he became wheelchair bound for three months. During that time he became incontinent of bowel as well so we saw a neurosurgeon who discovered the tethered cord on the earlier scan. He immediately had surgery to clip the filum and remove the lamina in November of 2008. Ben is doing well after his last procedure and is walking better than ever though the hip still poses a problem. He will transition from AFO to SMOs soon. He remains incontinent of bladder and bowel. We believe nerve damage sustained from the cord tethering is to blame.
Ben recently had another abnormal EEG, yet a repeat brain MRI showed nothing (myelination problems apparently gone). In December 2008, an alpha dystroglycan stain was performed on his previous muscle biopsy and showed reduced dystroglycan around every cell and his lamp 2 was increased. We were told he has a dystroglycanopathy. We sent blood to Prevention Genetics, but those tests were normal so we haven’t located the affected genes. We felt a definite sense of peace after 6 years, 7 months and 6 days of wondering, though this diagnosis still has so many variables and we don’t really know the prognosis. Just having a name and a place to start is very comforting at times.
Ben has been an incredible light in our life. He has shown us great strength and determination. From early on he seemed to have wisdom beyond his time. Despite all the stress, difficulties, red tape, fighting for care and insurance, sleepless nights, and the pain of watching a loved one suffer, Ben’s trials have been a challenge that has given us gifts untold.
I asked Ben what he’d like to tell others about CMD. He said, “It’s kinda hard to handle, but other kids I know have stuff to deal with that’s harder than mine. I wish my body worked better but my mind is still nice. I just have to think about fun things. ”

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  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

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