I don’t even know where to start my story. Our family was on top of the world. We just moved into our newly constructed house in the year 2000. I had a 4-year old daughter and now I had a son. Our family was complete and we were in our dream home. Then when he was 5 months old, he got RSV and almost died. It was so bad that he actually had to be helicoptered to the Children’s National Medical Center. He made it through that, but the doctor’s were scratching their heads at why a full-term, healthy 5-month old reacted so severely to RSV. We were just happy to have him back.
He continued breast-feeding, started eating solids and making some of his milestones, but then when he was 1 year old he started getting recurrent bouts of pneumonia. They admitted him to our local hospital and found out that he was silently refluxing and also had swallowing problems that caused him to aspirate, so they inserted a feeding tube and did surgery on him so to tighten his esophagus so he would no longer get the aspiration pneumonias. They said that the feeding tube was reversible. They were perplexed and since he was a little behind on his milestones, they wanted to do some genetic and neurological testing. I wasn’t really concerned, since my daughter was also a bit delayed with her milestones and she was fine. All of his tests came back negative.
He finally learned to crawl backwards, pull to standing, and say a few words. When he was 1 ½ years old he stopped breathing. Luckily, my husband and I knew CPR. Again he was helicoptered, this time to Johns Hopkins. They said his trachea was still a bit cartilaginous and hadn’t turned into bony structure yet so he needed a trach tube inserted in his throat to help him breath. Again, they said not to worry since it was a reversible procedure. Here too, they performed more tests on him to see what the underlying problem was…again he passed with flying colors. He was just delayed.
It was frustrating not knowing what was wrong with our child and it was very scary. We spent a lot of time in hospitals. When he was 2, we realized he could no longer do the things he used to do.
When he was 3, he started having uncontrollable movements and started taking a drug that is used for Parkinson’s patients…still no answers.
At age 4, he was hooked up to a ventilator because he stopped breathing and this time they said it was brain-related.
When he turned 5 he pretty much remained bed-ridden, hooked up to the vent, and started having seizures. Finally, his test results started to show brain atrophy, etc. but not attributed to any underlying diagnosis.
At this point, we took him to Disney World, courtesy of Make-a-Wish Foundation and he got very sick and had to be flown back home on a Cessna air-ambulance to our local hospital. There we met his Neurologist’s new partner and he looked at my son and asked if he had ever been tested for Batten’s disease. I skeptically said no, and said he probably doesn’t have it since he has never tested positive for anything. Then, I humored him and asked him what the diagnostic test would be. He said it would be a skin biopsy. I told him that we were not interested, considering my poor son had gone through muscle biopsies, spinal taps, and tons of needle pricks. We left the hospital.
A few days later I got a call from his Neurologist saying that she spoke to the Geneticist and that there was a new blood test available for Batten testing. I was doubtful of the whole thing, but reluctantly went along.
Soon after, we got a phone call from his Neurologist. She said that the Mass. General report showed that he was a carrier for the CLN6 mutation (Variant Late Infantile Neuronal Ceroid Lipofuscinosis). Even though carriers are not supposed to have the symptoms, as it is autosomal recessive, he does have the symptoms. Although I knew how terrible the disease was, I was relieved and at peace that we now had a name for his suffering. I always knew whatever my son was going through was terrible, so labeling it wouldn’t make it any worse. I felt I now had a cause, a support-group.
He had an Electro-Retinogram a couple of years ago at Johns Hopkins which showed mild retinopathy.
He will be 8 in July of 2008. It has been a roller coaster of emotions, but we take things day by day and we are blessed with so many good things in our life and he is a wonderful and loving child.
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