Good News All Around

It was a looong day at the Drs. but by far the most worthwhile visit ever. Why?????

Because..........

We have FINALLY found a mutation of the boys disease :) Wooohooo

What does this mean????

It means when Janessa is ready to have her own kids, she can hopefully pick out the mutation through IVF and have healthy babies of her own. HUGE for her as well for my neices and nephew. Now we can track the disease and make sure it doesn't happen again through genetic counseling.

I always said Avery was here to find the cause of the disease and was determined to find it and here it is. My little man has helped so many. You know I saw a fortune teller 2yrs. ago with a friend and I know many don't believe which is fine. But she told me that my youngest would go on to do something big and I knew that this is what it would be. Because without Avery being here, we would never have truely known what type of mito Isaiah had.

Basically (its all very complicated) but Rick and I are likely carriers of this mutation which we just happened to get together and have kids, so it was inevitable. There was always a chance of any of our kids getting this mutation. Just so happened it was both boys. Today we tested myself, Janessa and Isaiah and will test Rick. If Rick and I have the mutation for sure then we know 100% where it came from. If Janessa has the mutation then she will be a carrier and if she marries someone with the same mutation and does not get genetic counseling then she will have the same fate as us. If she does not carry the mutation then she is all set. All this we will know soon.

Now it does not change anything with the boys. ALthough Isaiah has an additional mutation which may actually be helping him thus making him less sick than Avery. Avery has 2 copies of the mutation which likely makes him more ill. It is all overwhelming but also exciting that we finally have answers.

Who would have every thought that we would even be on this journey. But we have and it is what is it. As you can see by my beautiful kids who were all so meant to be here and enriched all our lives.

Also more good news is that Mr. Avery absolutely did not need a transfusion today. In fact his number recovered to normal on his own. Wooohooo. I really think this IVIG infusions was the best thing we could have done for him. He has another one on Thurs. and I hope this one is smoother but I know it is so worth it in the end.

So all in all, LIFE IS GOOD. We are a very blessed family.