If you are the parent of a child with a peroxisomal disorder we want to hear from you!
Our son Archer was diagnosed with Infantile Refsum Disease (IRD) [IRD is the term that has traditionally been used to describe the most mild presentation of Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD)] in March 2012 at the age of 18 months.
Our journey to diagnosis began when he was six months old and we noticed a jerking movement in his eyes. After a test called an ERG he was originally diagnosed with a congenital retinal disease called LCA.
We were told he would be legally blind. Some time passed, and I remained concerned that his muscle tone was poor. His head still lagged behind when he was pulled to a sitting position, and he did not sit up until he was nearly a year old.
Ethan was born on July 23, 2010. It was a long, tough delivery for everyone involved. It was a forceps delivery and the cord was around his neck twice. After he was born he was taken to the nursery for monitoring and after about two hours they brought him back to us.
After loving on him, and trying to get him to eat (Ethan couldn’t latch) so we fed him from a medicine cup with the nurses help, we let him spend the night in the nursery with me (mom) waking up every two hours to try to feed him.
Phoenix is almost 9 now and with years of therapy behind him can count up to 20, knows and draws the alphabet, keeps up with his peers on the playground and loves to talk.
His biggest obstacle is still his speech and working on slowing down and speaking more clearly. Phoenix has many friends who love and protect him.
Phoenix loves superheroes, LEGO and watching toy reviews on YouTube. He is incredibly affectionate, always wanting cuddles and kisses and also annoys his two brothers daily.
It is lovely watching him grow, not letting his disabilities hold him back. I hope for Phoenix and all affected children to reach their fullest potential with a smile on their face.
Cole Tyler was born on August 16, 2006 and instantly captured our hearts. I had a very easy pregnancy with him, but when it was time for the little one to arrive he gave us quite a scare. I had to have an emergency C-section because his heart rate was dropping due to the cord being wrapped around his neck.
If you are the parent of a child with PBD-ZSD, we want to hear from you! For more information, please contact GFPD Family Educations and Engagement Liaison, Katie Sacra at firstname.lastname@example.org
All “Family Stories” were written by the families themselves and represent their opinions and views. These views are not those of the Global Foundation for Peroxisomal Disorders.