The Journey We Are On.....

October 5 th is a special day for our family as we celebrate #PauseForPBD , the annual awareness day for The Global Foundation for Peroxisomal Disorders (GFPD) . [Jeff's birthday also happens to be October 5th but he doesn't seem to mind sharing it with #PauseForPBD day.] Our son, Ethan, is 7 years old and is one of less than 200 children, known to the GFPD, living worldwide with Peroxisome Biogenesis Disorder (PBD).  Ethan has a contagious smile and laugh, despite the fact that PBD has caused him to have severe cognitive and physical delays. Peroxisome Biogenesis Disorder (also known as Zellweger Spectrum Disorder), is a rare, genetic condition affecting multiple organ systems in the the body. PBD is generally fatal in childhood. As a parent, it is difficult to express the sense of loneliness and feelings of isolation that enter your life when your child has a rare genetic disease that most people have never heard or and has no cure. However, #PauseForPBD, is a d

On July 13th and 14th over a hundred scientists, clinicians, and students came to Washington D.C. to attend a conference focused on the Development of Therapies for Peroxisome Biogenesis Disorders . The keynote speaker was Dr. Francis Collins, the Director of the National Institutes of Health (NIH) . As a parent of a child affected by PBD-ZSD it is hard to adequately describe how much it means to know that there is growing interest in finding treatment for rare diseases. In addition to the scientific portion of the conference was a separate conference designed specifically for families. More than 40 families from the US, Canada, and the Netherlands came together in the largest GFPD Family Conference to date. Check out the welcome video below. Jen Kerckhoff, a fellow GFPD Board of Directors member, wrote a wonderful article about her experience which you can read on the TulsaKids blog. Jen is one of just two members of the Board of Directors who is not a parent of a child

Ethan was diagnosed with strep throat on Monday, May 22nd. He was prescribed a 10 day antibiotic which finished up Thursday (June 1st). Thursday night we had to administer his rescue medication to stop his seizures and we had to do this again Friday morning. After giving him the rescue medication on Friday morning I took him to the ER. We were admitted and spent the night. Blood and urine samples were "okay," but the nasal swab was positive for a cold virus. So, sometime during the treatment of the strep throat Ethan also caught a cold. He is still extremely lethargic, but we didn't see any seizures today. We got home around 5pm this evening.  Jeff did an amazing job holding down the fort here at home while I stayed at the hospital and I'm very thankful for the friends that helped out yesterday so that Jeff could come visit us for a bit. Prayers for Ethan's continued recovery and for no more breakthrough seizures is greatly appreciated.