James Erena, Family Story

James was born in September of 1989. At about four or five months of age, his childcare provider expressed concerns about his not moving around in an age appropriate way. We took him to the pediatrician, who said to wait and see. After a couple of months it was obvious he was not hitting developmental milestones, so the doctor set us up with the neurology team at Tufts New England Floating Hospital in Boston. The team there, led by Dr, Paul Rosner, did extensive testing and arrived at a clinical process-of-elimination determination of Pelizaeus-Merzbacher Disease. James was about nine months old at this point and he started receiving physical and occupational therapy services. Throughout all of this, he was very happy and social and loved getting outside. 

In early 1991 we moved to Vermont, where James was seen at the Child Development Clinic in Burlington by Dr. Mary Scollins. She followed up on James’ PMD diagnosis and recommended local services for him. In 1992 she made a referral to Dr. Edwin Kolodny at New York University Hospital. Dr. Kolodny not only confirmed the PMD conclusion, but established the genetic mutation in the PLP1 gene through laboratory testing.

Throughout his early years, James continued to enjoy being around people and to travel and be outdoors. He loved movement and seemed to really be tuned into sound. He had a pronounced nystagmus and was hypotonic. He could roll himself over and crawl, though his head control was poor. He did not gain much weight, but was generally healthy. He was able to eat solid food, though in small bites or pureed form. He had a couple of approximate words he used regularly. He continued to be followed by the specialty care team and to receive multiple therapies.

James entered the local preschool program, where he added speech-language services to his life. He loved taking the bus to school and being at school. By about age four he had developed fairly severe muscle spasticity, and his hips had subluxated. He had bi-lateral hip osteotomy surgery at Shriners’ Hospital in Springfield, Massachusetts in late 1993. This required him to be in a spica cast for over two months, during one of Vermont’s coldest winters in years, with temperatures dipping to minus 30 degrees. Getting him to the doctor’s office for checks was a colossal challenge. Since his initial surgery, James needed an additional operation to re-correct his left hip in 2002. He also had a break in his left femur that required a cast for about eight weeks.

At about age fourteen, James’ swallowing worsened, and he frequently choked and spit up food. A barium swallow study revealed that his swallowing reflex was extremely poor, and he required a gastronomy tube for feeding. Concurrent with this was the development of a severe scoliosis and accompanying lordosis. These conditions worsened rapidly, became very painful for him, and ultimately threatened his ability to breathe. Surgery was again a necessity. Before any work could be done, it was determined that he should have an intrathecal baclofen pump implanted to mitigate the spasticity that was affecting his spine and hips. This was placed at Dartmouth-Hitchcock Medical Center in early 2004. Because of our previous experience with Shriners’ Hospital, we went to the Montreal branch for assessment of his orthopedic condition and then spinal surgery. James underwent an eleven and a half hour operation to place Harrington rods, cables, and 33 screws to correct and secure his spine. His recovery took two weeks in the hospital and another six weeks at home. I was his caregiver during this time.

During the early years of his life it was possible for me to spend a lot of time with him, as I was employed only part time. As I transitioned to full-time work it became essential to have full-time care for him. This was a difficult time. Finding someone with the skills, the compassion, and the dedication to caring for James was much harder than just finding a daycare slot. After many false starts and parting ways with people, James was fortunate to find a great person. Filling in necessary hours with other caregivers has remained a significant problem over the years.

Throughout his school years, James has required an Individualized Education Plan (IEP). This began when he was three and in preschool, and it continued through his 22nd year. Some of his teams were truly excellent and worked extraordinarily hard to meet his significant needs. Other teams were less skilled and provided only marginal services for him. Throughout all of his years of school I was at every meeting, every update, there to address every question. When James had a problem physically, I was called and rushed from my job to help him and bring him home. When he was sick, even as a teenager, he needed me to be with him at home to provide the extra care and intervention necessary. While I almost never missed a day of work over the past 33 years due to personal illness, I have had to leave my job as a special education teacher many, many times. This impacted my work significantly, and ultimately forced me to make the decision to end my teaching career and move to a support position in the local school district, where I can be close to home and can spend the time I need to supporting him.

James has had a number of surgeries, primarily for orthopedic concerns. He has had two for hip dislocation, one enormous operation to correct his spine, and several baclofen pump placements. In an effort to help with bone density issues (DEXA scan z-scores around -5), James entered a pioneering treatment protocol at Shriners’ Hospital in Montreal. Doctors there gave him an infusion of pamidronate, used to deposit calcium in bone tissue. He had these off-label treatments every 4-6 months for several years. The treatments stopped at age 18, but striations showing improved calcium deposits from treatment can still be seen in his bones. I believe this treatment has helped prevent any other fractures.

Because James could never participate in activities normally associated with growing up, he had few real friends in his life. He has gone to three or four birthday parties of peers. He has been invited to join classmates or peers on very few occasions, even here in the town he has grown up in. I have looked for ways to keep him active and engaged. He has done some horseback riding, with me holding him; he has done aqua-therapy. I have enjoyed sharing the hobby of railroading with him, taking him on an untold number of train rides and running model trains at home.

A recent example of the difficulties PMD presents has been the air quality in northern New England this summer. With raging wildfires not far from here in Canada, smoke has bothered James’ breathing. On days with high humidity it’s worse. He requires more medication, more direct intervention from me to stay even moderately comfortable. This necessitates closer attention and sometimes round the clock care. 

As potential treatment trials loom on the horizon, I am both hopeful and concerned. Any treatment that can improve the lives of kids with PMD is a major development; at the same time, I’m worried that James may be kept out of possible therapy investigation because of his age. As he is well past the age of final brain development, his prognosis for improvement may be cloudy at best. Nevertheless, I believe that including older patients in any upcoming trials could offer much-needed and long-awaited hope for older PMD kids. After decades of participating in research studies and contributing biological samples, it would be fitting for older patients to be able to at least have access to new treatments as they are developed.

I will close by saying that there is nothing more important to me than being James’ father and primary caregiver. However, this job has gotten more difficult over the years as James’ health and abilities are less stable than they used to be. Virtually no decision I make can be contemplated without his needs being considered. I hope that as potential treatments move forward, the FDA and the companies involved will consider the needs of those who have dealt with PMD longest, even while they work to one day provide a cure for the youngest among us.