Jake’s story

We were sent directly to the hospital from what was supposed to be a 35 week routine check up. My amniotic fluid was low and I was measuring small. After 35 weeks of a normal pregnancy, Jake was born by c-section on December 24, 2003 due to low fluid and in the breach position. He spent 9 days in the NICU and we came home thinking we had a happy and healthy 4 pound, 9-ounce baby.

In the first 9 months he was more work than any baby we had known. He was fussy a lot. He spit up what seemed like every thing he drank and he only slept for 2 hours at a time or less. He was born tongue-tied so breast-feeding was impossible. I pumped most of his milk for the first 3 months. The doctors diagnosed him with GERD and put him on Zantac for Reflux. He suggested that we take Jake off breast milk and put him on soy formula. He went through a Frenuloplasty operation to untie his tongue and we took him off the breast milk. I noticed that he was delayed in milestones, about this same time so we made an appointment to get him examined with our pediatrician. Our pediatrician diagnosed him with low muscle tone and prescribed physical therapy.

While at therapy at 9 months old, Jake had a seizure. The very same day we were admitted to All Children’s Hospital. At that Hospital stay Jake had gone through 2 spinal taps, a 48-hour video EEG, numerous tests. Jake was also diagnosed with bilateral cataracts. Within weeks, a muscle, skin and tissue biopsy was performed. A few weeks later we got the phone call that would change our lives forever. Jake was diagnosed with Merosin Positive Muscular Dystrophy, Subtype unknown. Upon meeting with our neurologist several days later, he told us everything that we had already researched, that Jake had a very serious disease and there was no prognosis and no cure.

It seemed that every question we had was answered with “I don’t know”. One thing we did know, Jake needed cataract surgery to save his eyesight and he needed it quickly. We had to schedule two surgeries, one for each eye. Both surgeries were successful. But, in the mean time, Jake’s seizures had gotten out of control and he was having 100 or more infantile spasms a day. With each seizure we could feel him slipping away. He was forgetting what he had already learned and soon he even stopped smiling. None of his medications were working.

At 11 months old we were desperate so we tried ACTH and gave him shots twice a day at our home. The horror of having to hold you baby down so that you could poke him with a drug that wasn’t even guaranteed is indescribable. After 4 weeks it was clear that the ACTH was not working so we needed to take a more extreme measure. We heard news of a drug called Vigabatrin that was from Europe and available in the US through one pharmacy in NY. This drug wasn’t FDA approved nor was it covered by insurance but we were desperate to find an end to the seizures so we tried it.

Months went on and the seizures were increasing. We all were worn out and tired but still willing to fight. We made the decision to add Topamax to the Vigabatrin and just weeks later at 22 months old our little guy was finally free of seizures. We have since then been able to take him off of all anti-convulsants and he remains seizure free. He still takes medicine for acid reflux but that has been changed to Prevacid.

Jake started to sit up on his own at 4 years and 2 months. When he was 4 ½ we enrolled him in a Therasuit session. This is a 3 week intensive therapy that we had to pay cash for and were given no guarantees. After the session was completed Jake stood unsupported for his very first time at 4 years and 8 months. In this very same month he began to get onto his hands and knees and he was able to pull himself up onto his knees. At 4 years and 9 months old he made his first attempt to crawl by taking two hand and leg movements forward before falling. Jake continues to receive multiple therapies each week. Some are provided by school and we take him to a center with our private insurance 2 hours a week. He continues to excel in every aspect of his life, however he is developmentally delayed and scores at the level of a nine month old right now physically and mentally .

Each day is a struggle but each day the struggle is worth it because we have this beautiful little miracle that surprises us each day. He’s a very active little guy who is full of energy and smiles a lot. He doesn’t talk yet but he does babble in his own language. Sometimes so loud that our neighbors hear him. We have started HBOT therapy with intentions of waking up some sleeping brain cells. Jake touches the lives of everyone he meets. The employees at our local businesses know him by name, sometimes give him gifts and look forward to seeing him. He is 6 six years old as of February 2010.

This entry was posted in Our Stories. Bookmark the permalink. Both comments and trackbacks are currently closed.
  • Congenital Muscular Dystrophy

    A group of diseases causing muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with CMD may have various neurological or physical impairments. Some children never gain the ability to walk, while others lose the ability as they grow older. Learn more...

  • Register Now!