Day 312 - Back at the Beginning

One year ago, we mailed the following letter to our family and friends explaining Everett's PMD diagnosis. Little did we know that the following week Everett would be accepted into the stem cell transplant study at Duke University. The transplant is not a cure, but we are thankful Duke is committed to researching PMD which gives us lots of hope for Everett's future.

 

July 2015
Dear family & friends,

We recently received some unfortunate news about our little Everett’s health and wanted to update everyone. Some of you may already know more information than others, but here is a brief summary of the last eleven months:

At four weeks old (Sept 2014), we noticed that Everett’s head would occasionally tremor. Our Pediatrician was not too concerned, but we scheduled an appointment with a Pediatric Neurologist anyway. The Neurologist believed Everett was simply neurologically immature (nothing serious) due to his small size, but she sent us for a brain sonogram as a precaution – which turned out to be “normal.”

In October 2014, Everett’s eyes began involuntarily oscillating (nystagmus) and the Pediatric Neurologist ordered an MRI of his brain to rule out any major complications. At 14 weeks old, the MRI was conducted at Children’s National in Washington, D.C. Afterwards, we received a call to inform us that the MRI looked good and everything was “normal.” Since all of the imaging indicated there were no complications with Everett’s brain, he was diagnosed with Spasmus Nutans (a benign condition involving head nodding and nystagmus which typically resolves by age 3).

In February 2015, our Pediatrician referred us to our local Infants & Toddlers program because Everett had poor muscle tone and was failing to reach developmental milestones. We began weekly physical therapy and monthly occupational therapy to help him catch up. During our therapy sessions, the PT noticed that Everett did not reach or track for toys, so we became concerned about his vision.

At 8 months old (April 2015), a Pediatric Neuro-Ophthalmologist at Johns Hopkins told us that despite the nystagmus and intermittent strabismus (crossed-eyes), Everett has great vision. After we informed the Neuro-Ophthalmologist that Everett’s MRI was normal,” he agreed with the Spasmus Nutans diagnosis, but referred us to a Developmental Pediatrician because Spasmus Nutans does not cause any delay in milestones.

In May 2015, an assessment was conducted by a Developmental Pediatrician at Kennedy Krieger Institute. Our new Pediatrician consulted with a Pediatric Radiologist at Johns Hopkins to provide a second opinion of the original MRI (which was conducted at 14 weeks). The second opinion of the MRI indicated Everett had a delay in myelination of the brain. Myelinis the insulation that protects nerves and promotes the efficient transmission of nerve impulses; so we immediately knew that Everett’s condition was serious.

At 10 ½ months old (June 30, 2015), a new MRI was conducted by Johns Hopkins in Baltimore, MD. Unfortunately, this second MRI confirmed that Everett’s brain does not make enough myelin and he was diagnosed with Leukodystrophy. And last week, genetic testing confirmed that Everett has a specific type of leukodystrophy known as Pelizaeus-Merzbacher Disease (PMD).

PMD is an extremely rare condition involving the brain and spinal cord. Pelizaeus-Merzbacher Disease is caused by an inability to form myelin (dysmyelination) in certain areas of the central nervous system. As a result, individuals with this condition have impaired intellectual functions, such as language and memory, and delayed motor skills, such as coordination and walking. Typically, motor skills are more severely affected than intellectual function; motor skills development tends to occur more slowly and usually stops in a person's teens, followed by gradual deterioration.

Unfortunately, there is no cure and very few options for PMD treatment or research --- but we are working with local physical therapists, occupational therapists and staff at Kennedy Krieger Institute/Johns Hopkins to ensure that Everett has the best support and adaptive tools available. Since receiving the diagnosis, we have had an opportunity to connect with families all over the world affected by PMD. The range in overall health, lifespan, motor skills and cognitive abilities varies greatly amongst boys with Pelizaeus-Merzbacher Disease. Despite the numerous challenges ahead, we are confident and prepared to provide Everett with a truly wonderful life.

At this time, we are very thankful that our adorable little guy is so happy & (otherwise) healthy. Everett has a very easy-going personality and loves to laugh. He “army crawls” all over the house to get to his favorite toys or chase after his silly big sisters. Everett loves to eat (even though he’s never even graced the growth chart) and sleeps well through the night. As he approaches his first birthday (August 14th), Everett is working very hard to learn to sit up on his own and feed himself finger foods. We certainly appreciate every little new skill he learns and each milestone he reaches.

If you have any questions or are interested in learning more about Pelizaeus-Merzbacher Disease we recommend that you visitwww.pmdfoundation.org or www.ulf.org. Thank you for your thoughts and prayers as we navigate this new chapter in our lives!

~Tom & Haylee

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