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While William Richard Whiston’s life has been punctuated by medical crises and daily struggles, it’s important to us as his parents that you know him as more than a “sick baby.” William is, above all, a wonderful little boy – a beloved son, brother, grandson, nephew and cousin. He is sweet, and patient, and brave, and happy. He is, admittedly, a TV junkie and he is a more avid user of the iPad than most 20-somethings. Every day, William inspires us.

Summer 2011 - Fall 2012

William was born on July 18, 2011, one month before his due date. It was immediately clear that William had very low muscle tone and strength (what the doctors called “severe hypotonia”), but it wasn’t clear what was causing it. After two months in the NICU – where he was on and off a ventilator and was eventually given a G-tube because oral feeding resulted in him aspirating the food into his lungs – William was sent home without a diagnosis. We felt overwhelmed, scared and alone.

It took nearly six months to get a diagnosis. Initially, the physicians believed William most likely had PraderWilli Syndrome. Once PraderWilli was ruled out, they ordered tests for SMA and congenital myotonic dystrophy. A neuromuscular specialist then did an EMG and a muscle biopsy. The EMG was essentially normal, but the biopsy revealed Centronuclear Myopathy suggestive of Myotubular Myopathy. It was all Greek to us, and we struggled just to keep up on the medical terminology. Genetic testing was then done, which confirmed that William has X-linked Myotubular Myopathy(MTM) – a diagnosis that was devastating to us.

After discharged from the NICU, William was admitted twice to the PICU. Once in October 2011 for an aspiration event and the second time in March 2012 for an upper respiratory infection. After the first hospitalization, we received a suction machine and after the second, a pulse oximeter (pulseox) and the ability to give him oxygen via a nasal cannula. We then began giving him a minimal amount of oxygen at night. At approximately 11 months, William had his first sleep study, which showed de-saturations during REM sleep. And although his CO2 levels were acceptable, a bipap was recommended at night for breathing support to improve overall health.

Around this time, William was also experiencing reflux problems and frequent vomiting. An upper GI was done and it was determined that he needed a Nissen – a surgical procedure to significantly reduce the reflux and vomiting. A week and half before the surgery and two days before his first birthday, William had another aspiration event after vomiting. His O2 levels dropped quickly and he began to turn blue; we began suctioning, turned on the oxygen and called 911. We spent a couple of days in the hospital, including his birthday. Overall his first year was relatively healthy, given all the risk factors associated with MTM. We were extremely cautious about the smallest cold and allowed very few visitors in our home to reduce his possible exposure to illness, with the exception of our daughter Juliet’s third birthday party and William’s first birthday party. We chose to celebrate these important milestones at our home with our wonderful family and friends. 

The week after William’s birthday, he underwent the Nissen surgery to treat his reflux problem. The surgery went well, but the post-surgery complications were severe. William developed a mucus plug after extubation; he stopped breathing and his heart stopped. Thankfully, the doctors and nurses were able to get him back within minutes. Over the course of the next 24 hours, he had two more breathing events from mucus plugs and was re-intubated. After consultation with William’s pulmonologists, it was decided to re-extubate. After the second extubation, William continued to severely struggle with his secretions and developed atcelectasis in both lungs (lung collapse). As things appeared to be headed in the wrong direction, we decided to have him re-intubated and scheduled a tracheotomy surgery. As we write this, William is currently recovering from his tracheotomy surgery and is doing well. He has recently come back home, where he is playing again and is a happy little boy who is loved by his family and friends, and now a wider community that includes his doctors and nurses, and other MTM families near and far.



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