PMD Community

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Liam, San Francisco, California

At 24 months old, our son Liam was diagnosed with Pelizeus Merzbacher Disease (classic). His diagnosis was given to us at Lucille Packard Children’s Hospital in Palo Alto, California. We were told he had a mutation of the PLP1 gene. What that all meant at that time we had no idea.

Liam Christopher Becker was born May 22, 2010. He was 8 weeks premature so over the next year he was delayed in hitting his milestones. However, this was not unusual for an 8-week premature baby as it is expected he would have some delayed milestone achievements. However, at 18 months, when he wasn’t hitting his developmental milestones, his pediatrician recommended speech, occupational and physical therapy. We went to his first physical therapy appointment where the therapist suggested seeing a neurologist.

The neurologist expressed the possibility that Liam may have cerebral palsy but she wanted to do an MRI to rule out any other concerns. Her main concern was PMD. She noted that I, Liam’s mother, came from 3 generations of PMD. I had been tested to see if, in fact, I was a carrier of PMD when I met my husband. My test results were inconclusive, as I didn’t have the typical genetic mutation or deletion for PMD.I had a mutation of the PLP1 gene with unknown significance. I am adopted so I was unable to find the genetic mutation that ran in my bloodline against which to test my results.

Following Liam’s MRI, we had an appointment to review the findings. My husband and I sat in the room with 2 neurologists and a geneticist. They began to explain that the findings of the MRI showed Liam did, in fact, have PMD. They said so much more to us at that appointment but I honestly heard nothing more after that. I was devastated for my son. I knew what this disease could do as I had 3 biological uncles who passed away with PMD and 1 biological brother who has PMD.

Over the next few weeks I researched everything I could to learn more about PMD. I had appointment after appointment with different specialists so they could all get a baseline for where Liam is developmentally and go over health concerns. I also got Liam set up with our Regional Center. At the same time, I started therapy to keep myself in a healthy place as I absorbed all this new information. However, most importantly, I reached out to our local PMD community to get in touch with others who had walked the path we were beginning. Several parents shared with me their experiences, gave me strength, and helped me to hope again for Liam.

Liam is our only son and we have chosen not to expand our family. We are blessed that we have such a happy, loving, playful little boy. He is our family’s greatest gift regardless of PMD. He is amazing in every way!

Codie, Orangeville, Ontario

Our family consists of myself (Tammy – Codie’s mom), my husband Blaine (Codie’s dad), Codie (who was born on November 4, 1990) and our daughter Hunter (who was born on May 18, 1999). We live in Orangeville, Ontario and we deal day by day with Codie’s condition. We have a house full of pets because they make our “Home” a home.

Codie was nine years old when we received his PMD diagnosis. He enjoys things like playstation games, movies and certain tv shows. He loves listening to Garth Brooks and the Back Street Boys. Codie loves to make people laugh. He leaves a lasting impression upon people he meets!

Codie is still able to speak to us, his speech is getting a little more difficult to understand but he is patient with us upon trying to decipher what it is he is saying at times.

The three words I would use to describe Codie is a loveable young man!!

Dylan and Nolan, Barrie, Ontario

I am the proud mother of two sons…Dylan and Nolan. Dylan was born full term at 11lbs 9 1/2 oz on October 26, 2001. At 3 months of age our Dr. noticed nystagmus in one of Dylan’s eyes. We were sent to The Hospital for Sick Children to the Eye Clinic, where a MRI was performed, It was noted that Dylan had delayed myelin development.

We were then sent to a neurologist who at that time ruled out Pelizeaus-Merzbacher Disease and other illnesses. Genetics at that time was looking for a duplication not mutation of the PLP1 gene. After the birth of my second son Nolan who was born 2 weeks early at 10lbs, he like his brother was not meeting the typical milestones that an infant should, we were then referred back to Sick Kids to another Neurologist, who then made the diagonosis of PMD on October 24th, 2006…two days before Dylan’s 5th birthday. Nolan was 3 1/2.

The boys are now 10 and 8.5 yrs of age. Even though both boys have the same mutation, they are very different in their needs…

The boys attend Monsignor Clair Catholic School, which they are supported by 100% EA support within the classroom. WE have a fantastic school community who include the boys in everything. They have an IEP for their educational needs.

They participate very much in the community: enjoy swimming, going to the beach, attending summer camp programs, walking with their walkers, riding their adaptive trikes, wheelchair races and snowmobiling. They have tired sled hockey, and are looking forward to trying down-hill skiing in the future.

At home they enjoy hanging out, listening to music, playing on their computers, standing in their standers playing video games (when mom allows), reading, and tv.

Both Dylan and Nolan speak but have some articulation and breath control issues. They receive Speech and Language Therapy here in the home on a regular basis with the support of mediators/Speech and Language Pathologists and mom.

The 3 words I would use to describe them are: Happy, Funny and Loveable oxox

One day I am hopeful that their may be better treatment options and/or a cure for our boys…so that they can run and kick a ball like other boys their ages.

Joshua and Evan, Hattiesburg, MS

Joshua was born on August 26, 2002 and was diagnosed with PMD when he was four months old.

On August 17, 2005 Joshua’s little sister, Jayden, was born, followed by Gabriel on May 12, 2008. Evan was born December 10, 2010, and like his big brother Joshua, has PMD.

Jack, New York City

Jack was born on April 14, 2006 at Lenox Hill Hospital in New York City at 36 weeks gestation after a healthy pregnancy and delivery.

He did not cry upon entering the world; the sound we heard was stridor as he struggled to breathe, his chest caving in like a bowl. Jack was intubated soon thereafter, since he couldn’t breathe with the assistance of a nasal cannula.

After 8 weeks, Jack still couldn’t breathe using CPAP, so he had a tracheostomy. He also had a g-tube placed for feeding. Doctors and nurses noted his incredibly low-tone as well as the rotary nystagmus of his eyes. At 2 1/2 months old, Jack was transferred to Blythedale Children’s Hospital, a pediatric rehabilitation hospital in Valhalla, NY, where we learned how to take care of his medical needs. We finally brought our son home when he was 4 months old, where he received PT, OT, and speech therapies through Early Intervention.

In February 2007, we received Jack’s diagnosis of connatal PMD, after 10 months of testing, consulting with different specialists, and waiting for results. When Jack was 2 1/2, he started preschool with the aide of a nurse at Roosevelt Children’s Center, a school for children with multiple disabilities.

To Jack’s delight, his twin sisters, Meghan and Caroline, were born in January 2009.

A year later, we all traveled to San Francisco to have Jack screened for a stem cell trial. It was determined that Jack’s brain had atrophied too significantly since his MRI at 8 months of life to proceed with the surgery required for the experimental treatment. We brought Jack home and moved to Madison, New Jersey in November 2010, where he started school at the Matheny School in Peapac k, NJ. Our district buses him from our home each day with a nurse and he participates in his therapies, is exposed to an adapted kindergarten curriculum, and goes on field trips.

To date, we have no way of effectively communicating with Jack. We think he understands and he smiles and cries to try to express himself, but it is impossible to know what he’s taking in or thinking, feeling or needs. He is progressively getting frailer and less able to move or tolerate stimulation, movement, or re-positioning of his body. We try to live one day at a time and include him the best way we can in all that we do as a family.

Jack, New Jersey

Jack Leonard was born in 2000 with the connatal form of PMD. He was a solid 7 pounds 15 ounces at birth but is only about 18 pounds at 11 years of age. What Jack lacks in weight, he makes up for in heart and soul. He enjoys watching Spongebob and dancing in someone’s arms. And a fake sneeze will make him belly laugh!

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