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Tuesday, April 7, 2009

Information Overload Part 2

I have no idea why I am not in bed.

We just got home. No kidding. Our appointment lasted 3 hours, we rushed to drop Gavin off with my dad, Troy and I shoved a Subway sandwich down our throat and we ran to our Little League board meeting. The meeting ended at 10:40PM and we still had to run to Ontario to pick up the boys.

Troy and I have yet to even discuss the new information presented to us from our appointment.

As we were devouring our sandwich, we agreed to discuss things tomorrow. We knew we had our meeting to get to (that we were already 20 min late to) and I didn't have any energy left to discuss anything at that point. We both just shared with each other, how sad it was to see these 2 little blind boys, one age 5 and one age 6 making their way around the doctors office. I was brought to tears, and Troy just got quiet and put his head down. We were both feeling the same emotions at getting a glimpse into Gavin's life a few years from now. It was a bittersweet moment. It was hard to see these little guys trying to feel their way around. It was also great to see they were still boys, and wanted to play with each other and listen to music on their dads phone. They were as happy and defiant as any child their age would be. Sight or no sight.

I am going to have the information digest and sit with me overnight. I still cannot tell you everything we learned. I guess this is one way of me trying to clear my mind and organize my thoughts. These are the things we did learn:

- Suspect Gavin has Leber's Congenital Ameurosis (LCA). Those American Idol followers, it's the same disease Scott has.

- Gene therapy for this disease is in the works. 8 children have been cured during clinical trial studies. FDA has not approved it.

- That being said, and where they are with this study, this will be an option during Gavin's lifetime. (Yes, I'm crying as I type)

- It is a genetic disorder. Troy has it, I have it, or we both have it. Landon can have it, but just carry the dominant gene and display no symptoms. Gavin has it and is a carrier, caused by one mutation from either Troy or I, or by us both having the recessive gene. Since Troy and I possibly are the carrier, it means we have it but display no symptoms.

- The Johns Hopkins Center for Hereditary Eye Diseases that indicates three genes associated with LCA: chromosome 17, a 65kD RPE protein, and CRX on chromosome 19

- I am even more intrigued with DNA.

- We need blood work done on Gavin, Landon, myself, Troy, and family members (probably grandparents and siblings) to recognize where in our family this gene resides. This blood will be sent to 3 facilities across the country who will test and see if he can qualify for gene therapy.

- Gene therapy is miraculous. I cannot believe they can do this stuff. That is for another post when I have more energy.

- LCA is a rare type of disorder. I have seen the numbers range from 1 in 40,000 to 1 in 800,000. Variances of the disease is hard to pinpoint the exact number affected.

- I have even more conviction and validation to support the Foundation for Fighting Blindness. FFB funds these clinical trial studies that are curing people and will cure people, like my son one day.

- Yay for Gavin's Groupies!

- We need to get Gavin fitted for sunglasses. Hollowing of the eyes is common with vision deficiencies, and his constant rubbing is not helping. I have noticed his eyes appear much deeper the past few months. The glasses will also help with his sensitivity to light (photophobic).

- I have to look into antioxidant supplements for him. Vitamin therapy is HUGE for vision loss. It can slow down the degenerative disease, and this is for all eye diseases across the board, not just LCA.

- I have contact numbers for about 10 agencies I need to call tomorrow regarding gene therapy, developmental therapy, genetic testing and antioxidant supplement, etc, etc...

- Troy and I need to make a decision to go with this Dr or fight the insurance and stick with CHLA.

- I am thankful my cranky self went along with this appointment. We did get some more insight, and we have a lot of discussions ahead of us. We need to figure out what we are doing.

- I'm exhausted and off to bed.

- I am still bothered with the insurance.

2 comments:

  1. Good luck Jen. Keep fighting, you are making some headway!! I am so proud of you and Troy. Look at all this new information you have found. Gavin is one lucky boy to have parents like you and Troy. Your family is in my prayers always!!

    Lots of Love, prayers, hugs and kisses-
    Bella

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