Enzo is almost 9 and was born on May 24, 2005, a very healthy baby. At 6 months, he developed a fever. A horrible fever...he went from fine and smiling to shaking with 104 temp within a couple of minutes. I can't even describe what happened...it was so bizarre. For weeks after he had shaking episodes. Doctors had no clue what was going on...I had no clue how to help him. I just held him in my arms trying to think of what i could do to cease the shaking. I would hold him tightly, I gave him warm baths, I would try to redirect his attention. Nothing worked, he would have to ride through a scary storm of shaking, while fully coherent. This happened numerous times a day for different intervals. Were they febrile seizures? What the heck were they? It was horrible. Within a couple of weeks, we noticed his eyes dancing. Like something you would see in the circus. They sent us in for an MRI and found two symmetrical lesions in the pons area of his brain. This was a clue to the docs that he had "Leigh's Syndrome" a Mitochondrial disease with a life expectancy of two years. What?!??! My healthy baby was no longer healthy and was not going to live?!?!?! This was by far the worst day of my life. We went home and many people came over to help us with this news. I think we all stared at the walls....dumbfounded! I couldn't stop crying. It felt like the funeral process had begun....we began grieving.
I read today that Dr. Koenig said that Leigh's disease is the hardest diagnosis to deliver. It is always fatal. (how our doc told us is another story!)
This is the clinical definition of Leigh's Disease:
Leigh's disease is a rare inherited neurometabolic disorder characterized by degeneration of the central nervous system.
Symptoms of Leigh's disease, a rapidly progressive disorder, usually begin between the ages of 3 months and 2 years. In most children, the first noticeable signs may be poor sucking ability, loss of head control, and loss of previously acquired motor skills. These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and/or seizures.
As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis. Lactic acidosis, the accumulation of lactic acid in the brain, may lead to impairment of respiratory and kidney function. Heart problems may also occur. In rare cases, Leigh's disease may begin during late adolescence or early adulthood. In these cases, the progression of the disease is slower than the classical form.
The most common treatment for Leigh's disease is the administration of thiamine or Vitamin B1. In patients who have a deficiency of pyruvate dehydrogenase enzyme complex, a high-fat, low-carbohydrate diet may be recommended. Oral sodium bicarbonate or sodium citrate may also be prescribed for management of lactic acidosis.
The prognosis for individuals with Leigh's disease is poor. Death usually occurs within a few years. Occasionally, patients may live to be 6 or 7 years of age and a few patients have survived to the mid-teenage years. Children who survive the initial bout with the disease may not fully recover and are likely to face successive bouts of devastating illness which ultimately causes death.
Well, I think Enzo has beat the odds!! I am ever grateful for every day that is given to us.
Lot's of tests were given. Genetic testing, spinal tap, loads of blood work, etc. We never found any red flags or info. They ran many tests to search for a maternal connection. Never found a connection. So, the only answer as to why he may have this disease was "spontaneous combustion". Ok...so it was just a crab shoot and he lost?
At 3 years old, we finally did a muscle biopsy. Luckily, we have a doctor in the family that is extremely compassionate towards Enzo's well being. She searched for a lab that was leading in Mito discoveries. So we sent our muscle biopsy to Columbia University. We made an appointment with Dr. DeVivo and Dr. Hurano did the testing. They did find a deficiency in his Cytochrome C Oxidase which is within the mitochondria. This was the clue to confirm the suspicion. They did tell us that Enzo had a much better prognosis. A typical Leigh's patient would present much more complex, clinically. Enzo produces sufficient lactic acid, with a deficiency here, he would function poorly.
At this time in his, life 6 months to 4 1/2 years, he was pretty healthy. He walked across a room once, so he never really walked due to ataxia and muscle weakness. He was able to eat and talk (his voice was ataxic too). He was considered failure to thrive because he was under weight. He was fully cognitive and very happy. My next post will be about the stroke he had at 4 1/2, due to a stomach virus (another symptom of Leigh's).
We still don't have a concrete diagnosis. His clinic notes read "a slowly progressive encephalopathy due to a yet unidentified etiology. Studies raise the concern of primary Mitochondrial Disease, specifically a Leigh-like syndrome."
So...this was the beginning of our journey. If you are a parent that is facing a diagnosis like this, I hope I have given some insight. I hope to help you gather the right questions to ask. The more you read about Mito, the more confident you become. One thing I have noticed about our Mito experience is that I have never met another family that is in shoes like ours. If you are reading this and your shoes are similar, please contact me!!!
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