Mike and I have searched for almost a year looking for other families that have been going through the same thing or similar things as us. Before we found our SMMCI families, we were frustrated, we felt alone and even our doctors did not have any information for us regarding Bella and her issues. They were treating every issue that Bella had separately. I kept feeling like there was a reason that all of these random things were going on with her. Yes, she has SMMCI syndrome, but that is usually accompanied by something "bigger" and if not, then it is just an isolated anomaly. We knew that Bella was having feeding and swallowing issues, muscles spasticity, high tone, breathing difficulties, central sleep apnea, and recently P5P deficiency, which is associated with epilepsy. We also knew, from the very beginning, that SMMCI syndrome is highly associated with Holoprosencephaly (HPE) and often debated on if it is a micro form of HPE.
Here is a brief overview of what HPE is. HPE is a condition when the brain does not grow forward and fully split into two separate hemispheres. The malformations of the brain can range from severe to mild. In a child with mild HPE, the brain is split but the child has some very mild abnormalities that a lot of times are over looked as HPE. HPE occurs in about 1 in 5,000 to 10,000 live births and current studies indicate that only about 3% of all fetus's with HPE survive the delivery and the majority of those die within the first 6 months of life. With that said, VERY little is understood about the most mild cases of HPE. We do know that children with HPE can also have secondary disorders, such as epilepsy, gastroesphageal reflux, hormone disorders, movement disorders and spasticity, respiratory disorders, and a few others.
At 10 months of age, Bella had an MRI to check for Cerebral Palsy. They were looking for any major damage in the brain, and luckily did not find anything.
One of our wonderful families that we met through Facebook opened my eyes to The Carter Centers. The Carter Centers are a brain research company mainly focusing on HPE. They are trying to update the statistics and information known about HPE. Since HPE is usually considered such a major deformity, there is not much information in the medical field for children suffering from the most mild forms of HPE.
The Carter Centers will read your child's MRI, review your child's blood work, preform genetic testing and do patient evaluations (if you live close to one of their centers) - ALL FOR FREE; if you have a child that meets their requirements of course. They will the provide you with their findings and tell you what other children are like that have similar defects.
Our dear friend who brought The Carter Centers to my attention, has a daughter who is 2. She also has SMMCI and a lot of the same symptoms/ issues as Bella. She had an MRI and hers came back "normal" as well. After feeling like something was just not right and spending lots of time doing research, her mother found The Carter Centers. She sent her daughters MRI to be reviewed and it came back as Septopreoptic HPE, the most mild form of HPE... To most people, this would be devastating news. It is TERRIBLE to read about and something that you would never wish upon your worst enemy, BUT this is answers for parents like us!
We have already talked with The Carter Centers regarding Bella's case and they want to review Bella's MRI. If they come back with anything, this could mean a lot to us. This could give us the answers that we have been looking for. We wont know about Bella's future, but we would have a diagnosis, something that we feel we are so far away from right now. We have a lot of random diagnosis for Bella right now, but nothing really makes sense. This would pull them all together and ultimately, not seem so scary for us. This could be ONE big diagnosis that houses all of her other issues.
It will be a while before we get any response from The Carter Centers (8 - 12 weeks), but it is worth it!
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