- The old terminology, although it is still widely used, has changed. Ethan's disorder is a spectrum, some kids are affected so severely that there little bodies wear out and are with Jesus by a year old. Some are less severely impacted and live through the toddler years, and those that are the most mildly affected can live into their twenties or even thirties! The disorder was once thought of as three separate diseases - Zellweger Syndrome, NALD, and IRD. Now the researchers know that it is one disorder and it is nearly impossible to say where on the spectrum a child will be, even if you know the mutations that they have. There are two great examples of this in our family support group: one family has a little boy in heaven who passed away when he was just four months old and his little sister who has the same mutations is still alive at 29! The other family has three children with PBD and each of them has been impacted differently.
- Doctors today have learned from the older children who are still living and those who have already gone to be with the Lord. Because of them most kids today are on Vitamin K supplement, to help with bleeding issues.
- Today because of newborn hearing screenings in most states, our kids can get fitted for hearing aids when they are just a few months old! There are cochlear implants that can give back the gift of hearing when hearing aids no longer help.
- Through Early Intervention programs our children have access to the therapies they need to help them reach their fullest potential. Ethan recieves the following therapies: PT, OT, Speech, Hearing, Vision and Dietitian support.
- There are eye surgeries and eye glasses that can help some kids better utilize what functional vision they have. Oh, I hope that one day Ethan won't hate his glasses!
- There are medicines to help with seizures and to increase bone density.
- Wheelchairs, walkers, braces, and canes help our children be as mobile as possible.
- And due to the dedication of parents, especially my friend Shannon, we have the Global Foundation for Peroxisomal Disorders (GFPD) and other organizations such as ZBSN which are dedicated to our families. THANK YOU!!!