How we got here

Many of you are already aware of this information but I would like to take a minute to tell you about my little boy. Landen arrived into this world August 8, 2008. At that time Landen failed newborn hearing screening at the hospital. It took only weeks to have him diagnosed with bi-lateral hearing loss and by December he was wearing his first pair of bright blue hearing aids. We noticed at an early age that Landen was delayed in his gross motor skills not rolling over or pushing up or trying to crawl but he was young and the doctors were not concerned.

At six months he woke up one day and his eyes were wiggling back and forth it didn't take long for us to become concerned since they never stopped moving. Ophthalmology at Primary Children's was our next stop and at about 8 months in July of 2009 Landen was diagnosed with nystagmus (involuntary side to side movements of the eye) and Retinitis Pigmentosa or RP (black spots on his retina).

The Ophthalmologist immediately refers us genetics fearing that Landen had Ushers Syndrome. Ushers is the most common genetic condition in which both neural-sensory hearing loss and RP occur together. Genetics ran their tests to rule out other things and in the process ruled out Ushers. The geneticist had some suggestions of his own, this was the fist time we would hear of Peroxisome Biogenesis Disorders or PBD. We had already moved to Arizona and couldn't afford the testing on our own so we put it off. I did my own research on this and convinced myself that there was no way that this was my Little Landen. At this time we were getting concerned over his lack of growth between 10 and 13 months, but his pediatrician was not concerned because at 13 months Landen finally learned to crawl and was burning more calories.

Time passed as we struggled to find some way to insure Landen and his "mild" delays started to become more extreme it was like my little boy was just stuck at that stage of development. Even more concerning was at his 18 month checkup Landen was still barely 20 lbs and 29 inches the same as he was at 10 months. His new pediatrician agreed that we should be concerned. He and his staff began working with us to find some way to get Landen insured and back into testing. In April of 2010 we were upset when Scott's pay was significantly cut just as we celebrated the arrival of our newest joy Baby Brayden. This qualified Landen for state insurance. We jumped on the ball right away!

We wanted Landen to see genetics right away but the way the insurance was set up he couldn't see him unless he saw a neurologist first so I drove Landen to Phoenix in August as soon as the appointment could be made. The neurologist gave me the shock of my life when he was the first doctor to tell me he had ever seen a patient like Landen. He said it was incredibly rare and in his many many years as a neurologist he had only seen 3 cases and the last one was 35 years ago. It was Infantile Refsum Disease I was overjoyed. But my joy was turned upside down when I got home and started researching it. The symptoms described my Little Landen perfectly and in a way that I was never able to get others to understand. My heart broke the first time I read the prognosis I turned off the computer and refused to even look at it again for several days. When I got my courage up to look again I found the same thing I didn't need a test to know that this was what my baby had. The month and a half since then have been a blur of doctor appointments and tests, the most important were the original test that Geneticist at Primary Children's wanted to do which only confirmed that Landen had IRD a Peroxisome Biogenesis Disorder and though it may be the least sever of on the scale it is still fatal and will eventually claim the life of my precious little boy. The greatest gift I have ever been given.