A genetics lesson with a happy ending!!

Ryan's disease is a recessive genetic disorder.  This means that both parents have to be carriers of the disease in order for the offspring to have a chance of inheriting the disease.  The easiest way to explain it is to say that each of us carries two copies of each gene.  In recessive disorders, both copies of the gene would have to be defective for the disease to show itself.  If only one copy of the gene is defective, we are considered carriers of the defect but show no symptoms.  One of the things I learned from the doctors at NIH is that each person is likely the carrier of over 40 genetic disorders, but never shows symptoms.

When two people have a child, they each pass one copy of their DNA to the child.  In Ryan's case, each of his parents carried this genetic defect in one copy of their DNA.  So they each had one 'good' strand of DNA and one 'bad'.  When they created Ryan, there were three difference scenarios that could have happened: a 25% chance that each parent would pass their good gene to Ryan and he would have 2 perfect genes, a 50% chance that one would pass a good gene and one would pass a bad gene making Ryan a carrier of the disease with no visible symptoms, and finally a 25% chance each parent would pass on the defective gene giving Ryan the disease he has today.

When Ryan received his diagnoses and we heard the word "genetic" our first thought and concern was for our children.  We needed to know if they would have the disease as Ryan does.  The doctors gave us the genetics lesson I listed above so we learned that my genetic make up would hold the key to whether or not our children will have the disease. We now know that Ryan has 2 bad copies of this gene so we were left with the following scenarios for our children: If I am NOT a carrier of the disease then our children will have inherited a bad gene from Ryan and a good gene from me, thus making them carriers of this disease but not displaying symptoms.  If I AM a carrier of the disease then there would be a 50% chance I will have passed the bad gene to our children, giving them the disease.

Ryan made the decision that we had to know if I was a carrier of this genetic defect in order to make decisions about having more children.  If I was a carrier, we would not have any more children so that we did not risk passing on the disease beyond the two beautiful children we already have.

It was a bit of a fight to convince the doctors at NIH to test me because the odds that I am also a carrier of this EXTREMELY rare genetic disorder are so slim.  The doctors quickly realized how important this test was for us and consented.

I got the results today and they came back clear! I am NOT a carrier of this disease which means our children will not inherit this disease!! Ryan and I both felt confident that the results would come back negative but that thought was always there.  What if? What if our children were going to go through this.  Its a natural concern as a parent but now one we no longer need to feel!

Praise God for a heart less burdened.

"And how are YOU handling all this?"

In the previous post, I responded to the list of questions I often hear from friends and family when talking about Ryan's condition.  I left off the last question because the entry was already getting quite long.  After people ask me what the diagnosis means, where we go from here, and how Ryan is handling it, I find they then ask me how I am handling it.  


When asked about my own thoughts and feelings on the situation, my answers vary depending on how much I think my conversation partner really wants to hear.  I am going to use this post as an opportunity to actually address that question as honestly as I can, for those that would like to know.  


Like Ryan, I know my faith in God has been the foundation of my strength over the last year.  I have had people say things like, "I can't believe you are handling this so well," or "I can't believe you're okay with all of this."  My response to those people is to consider how our journey has changed over the last year.  


We got a call from our primary care physician on a Sunday morning (actually three messages on the answering machine while we were at church), telling us we needed to get Ryan to the ER as soon as possible.  The doctor was afraid Ryan was in kidney failure.  That first 24 hours, I sat around waiting for someone to tell me my husband was dying.  Once they confirmed his kidney's were fine but there were crazy things going on with his nerves and muscles that they couldn't diagnosis, they were considering ALS, which would have taken Ryan's life in a couple years.  Once they confirmed his nerves were functioning fine, we slowly worked our way through possible diseases until we got to our answer.  


Looking back on that journey, I remind people that for a number of months, I would ask myself, everyday, what I would do when I lost my husband.  (Keep in mind we had a toddler at home and I was 5 months pregnant when Ryan was sent to the hospital for the first time).  I was a wreck.  While Ryan was in the hospital I would sit with him as long as I could, we would watch TV and just hang out.  Then, I would go back to my parents house and just cry.  I was so scared.  So considering that I have journeyed from the idea that I would lose my husband, to the idea that he will likely be in a wheelchair in 20 years, I am over the moon!  Once I knew Ryan would be around, I knew we could get through anything.


So when people ask me how I am handling it I often say that where we are now, and the prognosis we have, is much better then it could have been.  Every day I have with him is a blessing and I now understand and appreciate that more then I ever have.  I am a woman of God and He gives me strength and courage.  Am I sad for Ryan? A little.  I think part of me mourns the things he may miss out on in his life.  Am I scared? Not anymore!  I have Ryan, and together, we can get through anything... one day at a time.