Story of Gavin

Before I tell you Gavin’s story I just wanted to share a quick story of my own. Gavin’s middle name is Louis. I selected that name in honor of my best friend Louis who passed away from cancer in 1991 at the age of 12. I have many great memories. We spent so much time having fun together as kids, fun my son may never get to experience. I miss Louis, but I know I will miss my son a million times more. Please help us find a cure now!

The moment your child is born your life changes in so many great ways. All you can do is think about all of the great things you will do together as a family in the future.

Gavin was born on September 4th, 2016 around 1:30 in the morning. He was just over 9 pounds. A big boy. Our instant joy turned quickly to panic seconds after birth when my wife, Erica, hemorrhaged and doctors had a very hard time stopping the bleeding. She pulled through and after time in the ICU Erica finally met Gavin and we thought we were ready to go home.

Gavin then got a fever and he was brought to the NICU where he stayed for the next 23 days. He had a variety of issues ranging from aspiration to very low oxygen levels. Finally we were going home and everyone was healthy.

Around 9 months old you could clearly tell Gavin was behind on his milestones. We often heard the famous line of “boys progress slower than girls”, so no testing was warranted from the pediatrician yet. Gavin continued to miss milestones until his first birthday when he qualified for physical therapy, occupational therapy and developmental intervention.   Needless to say he was not a fan, but we had to do something to get him moving.

In November 2017, Gavin was back in the hospital with pneumonia and low oxygen levels again. While admitted he also got RSV. It was finally time for more aggressive testing.

On January 31st, 2018 we went to see the neurologist who would give us the results that would change our lives forever. At just 16 months old Gavin was diagnosed with MECP2 Duplication Syndrome. The doctor was so professional in delivering the news and honestly told us she had never heard of this before. She researched and told us:

MECP2 Duplication Syndrome is:

  • A rare, progressive neurological disorder that primarily affects boys
  • Low muscle tone
  • Feeding difficulties
  • Poor or absent speech
  • Constipation and/or reflux
  • Seizures that may not improve with treatment
  • Delayed development of motor skills such as sitting and walking
  • Loss of previously acquired skills (developmental regression)
  • Recurrent respiratory tract infections. These respiratory infections are a major cause of death.
  • Average life expectancy is 25 years

Update on Gavin Oct 2019

Taking the time to sit down and write about our precious little Gavin was so hard.  It was not just a matter of finding time but facing the reality that Gavin’s story and diagnosis aren’t going anywhere.  His MECP2 Duplication Syndrome is real, it’s not only a part of our lives, but it is dictating our way of life and perhaps the hardest part is realizing that as Gavin ages the symptoms of MECP2 Duplication Syndrome are becoming more prevalent.

As mentioned in Gavin’s previous profile, his immune system is weaker than that of the average child and as a result we had a rough start to the 2019 cold & flu season.  Gavin was hospitalized twice, once the last week of August and once the first week of October, for a virus which led to severe dehydration and low bicarbonate levels in his blood.  Our stay in the hospital in both cases was very brief because being in a hospital is an extremely dangerous place for children with MECP2 Duplication Syndrome as they are at high risk of catching a respiratory virus like pneumonia which is a main cause of death for these children.  Having that fact lingering in our minds, while seeing that Gavin was suffering from dehydration and this stubborn stomach virus just made the situation scary and emotional.

On the positive side of things, it is exciting to announce that Gavin has learned to crawl.  This is exciting because sometimes children with MECP2 Duplication Syndrome never gain this skill.  We are very lucky that Gavin crawls and we are also excited that, although he has not developed the ability to walk on his own yet, he did get a walker in September 2019 and he is beginning to learn how to walk with the assistance of this device.

Now that Gavin has turned 3 years old he is getting Physical Therapy, Occupational Therapy and Speech Therapy in an outpatient facility instead of having therapist come to our home through the Early Intervention program.   This is an opportunity to allow him to get used to going out of the house and be around other children and adults to hopefully provide an easier transition to a special needs school within the next two years.

At the moment we are concentrating on keeping Gavin happy and healthy.  We are doing our best to cherish the moment and make the best of all his MECP2 Dupilcation Syndrome tendencies, whether good, like getting super excited over tiny little things like shadows and the sound of a phone ringing or the more difficult things like his teeth grinding and his frustration from not being able to communicate. 

As always we appreciate everything that anyone does to help support Gavin along his journey. He continues to smile every day and for now that is lighting up our world.