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5 year old son

mchavalia Message
27 Jan 2011, 07:41 PM

Hi My name is Mary and my son, Ethan is now 5 years old. We reside in Michigan and since he was about 11 months old we had noticed developmental delays. We received early intervention services for OT, Speech and PT. I can tell you that, at 5 years of age, he is already proving himself. He did not walk until he was two, did not really talk much at all until 3-4 years and he currently has to be reminded to use sentences. His speech is not always real clear. He still drools as he has low muscle tone through out his body. Cognitively he is right in line with what a child his age should know as far as letters, numbers, opposites, colors, etc. Initially we were told he had lissencephaly. With the information we obtained online we just didn't feel it fit him. We took him to Chicago last year where the MPPH diagnosis was made. He also has a Chiari Malformation Type 1. We just took him for an MRI and there is signs of a reduction in cranial sachral fluid, but nothing to be concerned about at this time. As many doctors have told us, the future cannot be predicted, even with children who have no anomolies. We were told that Ethan's large head size may be the reason he is doing so well. Not sure what that is all about. Early intervention was the greatest program - if you have one in your state do all you can to take advantage of those services. We also went through genetic testing and had blood work sent for a clinical study. We haven't heard anything back, but the doctor told us he believed this syndrome to be the result of a new genetic mutation. I would be interested to know if any of you have received an official reason.
vford Message
29 Jan 2011, 09:30 PM

Mary, I enjoyed reading your story. I think I am on the other end of where you are though. Our baby is just now a year old. Since he was born he has kind of puzzled doctors as to what was wrong. We are still searching for a firm diagnosis as he does not meet the criteria for MPPH or MC-M 100%. So I am sorry to say I don't think I know any more than you already know. Can I ask who you saw in Chicago to get the diagnosis? My husband and I are wondering if we need to look for a geneticist who knows a little bit more about the syndromes they are considering.
mchavalia Message
30 Jan 2011, 05:45 PM

We seen a Dr. Dobyns in Chicago who was heading up a brain anomoly clinical study. The last I heard he moved to Texas to study children with autism. We did go to a genetic doctor while we were in the initial process of finding out a diagnosis. Looking back I am not sure we really gained much knowledge from the genetic testing. The MRI and the neurologist appointments are where we gained the most information. After our first diagnosis of lissencephaly we went for a second opionion, which was a waste of time and money, as that particular doctor had no clue what we were looking at. Dr. Dobyns was our third contact and we are still unsure if the diagnosis, signs and symptoms truely fit our son. We just encourage him every day to do his best and pray!!