When we were transferred to St. John’s they began to do more testing to discover what was wrong with our little guy. They did extensive blood work, a MRI, and an echocardiogram. Everything continued to come back normal but something just wasn’t right. So, they then took blood for genetic testing. We were at St. John’s for a week, and when we left the blood work for the genetic testing was not back yet but we were released to go home since Ethan had gained weight during the stay and was eating better.
On the Thursday after being released from St. John’s we got a call from our family doctor that the geneticist wanted to meet with us the next day. So, on Friday, August 20th Jeff and I drove over to Springfield with Ethan to meet with the geneticist. It was then that our world shattered. Ethan has been diagnosed with a Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD). These are really horrible nasty disorders.
We were been told that if Ethan makes it through the first year of life he has a 70% chance of reaching school age. During that time though he may go blind and deaf and if he learns to crawl, walk and/or talk he may lose some or all of those abilities as well. As you can imagine, it is very hard to believe that our beautiful little boy may be both mentally and physically disabled and have a shorter life than most. We haven’t stopped praying for a miracle since we found out about his diagnosis.
Ethan is involved in the Early Intervention program and is seen by a Physical Therapist, Occupational Therapist, a Speech Language Pathologist, a Hearing Developmental Therapist, a Vision Developmental Therapists and a Dietitian. Ethan received his hearing aids right before Thanksgiving 2010. He seems to be doing very well with them and he should be getting his first pair of classes soon.
Update -- October 2012
While time has shown us so far that Ethan is at the moderate/mild side of the spectrum (since children who are the most severely impacted usually don't live past their first birthday and Ethan turned 2 years old in July and is slowly continuing to make progress and learn new things) and both of Ethan's gene mutations has been found, this still can't tell us exactly what Ethan's life will be like. There are families who have two or more children affected and even though they share the same mutations, the kids have developed differently.
We continue to pray for the Lord to heal our little guy and to be with all the other PBD-ZSD families that we now consider part of our own family through our involvement with the Global Foundation for Peroxisomal Disorders (GFPD).
Update -- October 2013
In July Ethan was diagnosed with seizures. Although we have had some difficulty treating these with medicine, at this time (10/22/2013) they seem to be, for the most part, under control. Ethan began pre-school in August and in September he began walking with his walker, without additional support. We continue to pray for independent walking and for a breakthrough in some sort of communication.
Update --- August 2018
Ethan is 8 years old!!! He continues to battle PBD-ZSD one day at a time. He is currently walking independently and although his communication is still very limited he does a pretty good job of getting his point across a lot of the time. There are a lot of bad days due to seizures, but there are also a lot of good days, and even some really great ones.
Jeff, Pamela and Ethan