My longest post EVER! :)

As most of you know we have been going through some medical issues with Cole. I get lots of questions and people are always asking me how he is and what the updates are. Which we appreciate so much!! I figured I would try to sum up a few things and explain some of the things going on with our little man. Hopefully this will make sense because I know I was completely overwhelmed at first. This all started in April 2008, Cole had a follow-up with his local pediatrician regarding a bad cold he had. She noticed some things that concerned her with his eyes and hearing. She referred us to a local ophthalmologist and he had never seen anything like this before, if you looked closely his pupils would bounce up and down just a little. He referred us down to Texas Children’s in Houston to a pediatric ophthalmologist. She diagnostic Cole with Nystagmus, but she had some additional concerns so she referred us to a Retina Specialist in Houston. He examined Cole and had a few ideas of what maybe going on and referred us to the Genetics Department for testing at Texas Children’s. Are you keeping up?? ;) During this time we have already met with the Audiology people at Texas Children’s regarding his hearing and did confirm he does have moderate hearing loss in both ears. So many things going on and just trying to find answers, it’s hard not to get frustrated. But these doctors are amazing in their work, and we were headed in the right direction and that was a sense of relief. We have been doing testing with the Genetics Department since last November. All of the tests are sent up to Kennedy Krieger in Baltimore and results take about 4-6 weeks. That’s a long time for Mommy and Daddy! But our Geneticist we work with is AMAZING, he explains things so well and you can tell he is very eager to help Cole. Love that about him! They have narrowed things down and it look like he does have some type of Peroxismal Disorder and it’s probably Infantile Refsum Syndrome. We are still awaiting more test, so we don’t have an “official diagnosis” but they feel pretty confident about what it may be. Once we discovered this, they had us meet with a Dietitian and Cole is now on a modified diet. We are now awaiting our last set of test and we hope to know something in the next week.

What is IRD?
Infantile Refsum disease (IRD) is one of a small group of genetic diseases called peroxisome biogenesis disorders (PBD), which are part of a larger group of diseases called the leukodystrophies. These are inherited conditions that damage the white matter of the brain and affect motor movements. We’ve now discovered that both Bryan and I are carriers of this, so that’s how Cole inherited this disorder. It’s extremely rare and IRD is the mildest of the PBDs. The PBDs are caused by defects in the genes that are associated with the breakdown of phytanic acid, a substance commonly found in foods. As a result, toxic levels of phytanic acid build up in the brain, blood, and other tissues. It’s almost like an attack on the body, which explains the issues with his eyes and ears. Symptoms of IRD begin in infancy with a visual impairment called retinitis pigmentosa, and hearing problems. This also explains why he has Nystagmus, the puzzle is coming together. How has all of this effected Cole??? He has glasses due to being far-sighted and a slight stigmatism. However this doesn’t correct the issues with his retina, he has tiny little brown dots around the retina that causes issues with his peripheral vision. Over time, Cole has compensated so well and is very careful about his surroundings. It has taken a few tumbles to learn this, but he always bounces back. As far as his ears, he does have hearing aids in both ears due to a hearing impairment. We do testing at Texas Children’s to monitor his hearing levels. He has amazed us all that he has taken so well to both the glasses and hearing aids. It was a MAJOR battle at the beginning, but with a lot of help and encouragement he showed us! Plus I think he enjoys all the sights and sounds around him even more with this enhancement. He hasn’t had any issues with his heart or liver, and there have been no muscle problems. Which makes me so happy!

So after going through all of this, as a parent you want to know how to fix it or make it better. As of today there is no cure for this disorder, but they do have treatment options available. The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. The phytanic acid is what he is unable to break down properly like you and I. Anything from a cow or certain fishes contains this because of what they eat. And that is chlorophyll which turns into the phytanic acid. Some infants and children may also require plasma exchange (plasmapheresis) in which blood is drawn, filtered, and reinfused back into the body, to control the buildup of phytanic acid. We haven’t even discussed this option yet, but I’ve done a little reading on it. It’s comforting to read they’re doing lots of testing as we speak. And research is focused on finding better ways to prevent, treat, and ultimately cure this type of disorder. And I've learned you really have to watch what you read on the Internet. Not all of it is true and some of the things can really upset you. The doctor's have filled our heads with so much knowledge and info this past year, and I know we have a lot more to learn.

We will continue to take advantage of all the resources they have to offer. Cole continues to have speech therapy, and we are excited he will be starting a program at the local elementary school here. It’s a small classroom and all of the children have some type of hearing impairment. He will get a lot more one on one treatment, and I know he’s going to thrive and learn so much. With all of this and working with him at home, we hope that he can get caught up and move along with his grade level. Any extra help he may need along the way, we will do it. I just have to remember we are doing everything we can for him and the rest I leave in God’s hands.

I have had so many emotions going through all of this, but I try not to let myself sit around and cry and be upset over it. I’ve had my moments at the beginning where I could easily break down and ask the question “why?”. But now I choose to focus and spend all my energy in loving each day I have with this sweet boy and making each day special with him.. And trust me sometimes that is easier said than done. He has given me so much strength and love, and I know God is watching over him and has a very special plan for him. I feel he has blessed me with this sweet angel, and I’m up for any challenge or task we may face. I have so much faith in him and will continue to pray for him everyday. Anyone that has met Cole knows he is such a bright boy and has a never ending love for life. I hope his story will inspire others. He has taught me so much and his laughter and smile are the medicine ever! Thank you everyone for your continued prayer and support. We will keep you updated with Mr. C's progress, and any test or doctor's visits that come up.

And below is something that will make you smile!!! Cole on his first day of BIG boy school! Needless to say he did not share our same excitement. Little Man cried when we dropped him off, I'm sure with everything being so new, it's just an adjustment. I hope he is playing hard and learning lots of fun new things as we speak! :)