Emeric S. - Quilt Finished in 2008
Born: August 21, 2006
Illness: Metabolic Disorder, Mitochondrial Disease, Epilepsy, Developmental Delays,
Hypotonia, Sensory Processing Disorder, Reflux, Anemia
A Thank You From Emeric's Family!
May 31, 2008
I am SOOOO Sorry I did not get this sent out sooner. I thought I had and just
realized I did not ever send a picture of Emeric with his quilt!
Could you let the quilters know:
We are very appreciative of the quilt and Emeric loves pointing to the fish!
What a special gift!!
Love,
Jacob, Nicole and Emeric
Emeric S.'s Story
Written by Emeric's mom in January 2008
Emeric was a born a healthy full term infant. He seemed very healthy for the first couple months and then it seemed he was getting sick a lot. Ear infections, reflux, losing some weight. Overall though he still seemed like a pretty healthy kid. When Emeric was 6 months old he had his first seizure. An MRI turned out normal and we never pursued anything else because although he seemed mildy developmentally delayed everything else seemed fine. He was a bit floppy but again nothing major.
Around 8 months of age I realized Emeric was not responding to his name, not babbling, not interacting. He was evaluated by Early Intervention and started receiving therapy for global developmental delays. At 9 months of age his eyes starting rolling back into his head and I felt like he was having seizures. Our doctor disagreed and felt he was showing lots of signs of autism. We pushed for a visit with a pediatric neurologist and after a 24 hour EEG he was diagnosed with a generalized seizure disorder. Lots of labs were done to try to find out the cause of the seizures. Some of them came back abnormal for a suspected metabolic condition and so our journey began. It's been 8 months and we've since made numerous trips, some across the country, in seeking a diagnosis for our son.
Emeric is suspected of having a Creatine Transporter Defect which is a disorder of energy metabolism. Because of this his mitochondria and the neurotransmitters in his brain are not functioning properly. This causes hypotonia, seizures, developmental delays, problems with sensory processing, and other health issues.
At this point we're not sure what his prognosis will be other than these conditions are not curable and may or may not be helped with treatment. The affects on his brain over time most likely will lead to mental retardation.
