WHAT IS LISSENCEPHALY, WHAT SYNDROME TYPE DOES JOEY HAVE, AND WHEN WAS HE DIAGNOSED?
WHAT IS LISSENCEPHALY?
Lissencephaly is a malformation of the gyri in the brain. The word "lissencephaly" is Greek for "smooth brain". It is caused by a failure of the neurons to migrate to their proper positions in the brain during the fetus' early development. There are many causes, as well as many different syndromes (i.e. Miller-Dieker, Walker-Warburg, Isolated Lissencephaly Sequence, and other more rare types). Some lissencephaly syndromes are caused by an identifiable genetic deletion; in others the causes are less well known. In all cases, the child will have a degree of development delay, along with epileptic seizures. There is a "spectrum" of the handicaps seen, as some children function at a very low level, while others are able to perform at a higher level. In most cases, however, the handicap is quite severe.
A much more detailed explanation of lissencephaly and the genetic implications can be found at The Lissencephaly Network website.
WHAT SYNDROME TYPE DOES JOEY HAVE?
Joey's lissencephaly has been diagnosed as "Lissencephaly With Cerebellar Hypoplasia". His MRI shows pachygyria (wide, flat gyri) of the occipital and parietal lobes, enlargement of the cisterna magna with relative hypoplasia of the cerebellum, a posterior fossa cyst and small areas of calcification in the frontal white matter, bilaterally.
So - in plain English - what has this meant for Joey? All the problems of full blown lissencephaly, but with a little higher level of functioning! For instance, he learned how to crawl, could sit up on his own - he also gives the greatest hugs! (Hence, the alias "lotsahugs"...) On the negative side, he has a serious mixed seizure disorder (classified as "Lennox-Gastaut Syndrome") and we have been told that to see Joey's MRI and then to meet him, you would not think it was his MRI. He should not have been able to do all that he did. We are quite proud he managed so well.
There is something else that has set Joey apart from what you usually expect with a diagnosis of lissencephaly. He turns 25 years old in March 2006, an amazing accomplishment as most literature on lissencephaly still quotes an expected lifespan of approximately 2-4 years of age.
We are encouraged by Joey's making it this far, and hope to have him with us for many, many more years. (There are other children in The Lissencephaly Network that are older than he is now. In fact, the oldest "child" was almost 35 before she passed away.)
With the medical technology available today, such as antibiotics to treat pneumonias, newer and better anticonvulsants, tube-feeding strategies to ensure adequate nutrition, etc., we have reason to hope that our children will live longer and healthier lives. We'd like to think they are pioneers and are rewriting the medical literature!
Sadly, however, there are still many children with lissencephaly that are extremely ill right from the moment of birth and don't make it. It breaks our heart each time we see a new name appearing on the Network's "angel" page.
WHEN WAS HE DIAGNOSED?
At birth, Joey seemed like a normal newborn baby. The only positive finding was a sacral dimple (Spina Bifida Occulta). It was at the age of 4 months that he had his first seizure. It happened around midnight - he was in bed and suddenly we heard a funny noise coming from his room. When we investigated, we found Joey blue in color, a foam-like substance coming from his mouth. In a panic, we brought him to a local emergency clinic, where they thought he might have regurgitated some of his feeding but was otherwise ok.
After five similar episodes, we decided to bring him to the Montreal Children's Hospital because obviously it was more than just spitting up milk. Joey was admitted, and after a multitude of tests, including a CT scan (there were no MRI's back in 1981) and an EEG, the slight problem turned out to be a permanent, severe disability. Mind you - we were told VERY little at the beginning. One physician even told us, after seeing Joey's CT scan, that he might be having "night terrors"!!
It was months before the doctors started opening up and revealing just what was ahead. We're still not sure what the strategy was there - maybe it was to give us time to let the prognosis sink in and for us to adjust to our new reality. I don't know - but the unknown was in a lot of ways scarier than if we had the whole picture.
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