I am not the smartest when it comes to understanding how this all works but from what I figured out, I am a carrier of the mutation. I don't express it. A woman has two X chromosomes and a male has one. Apparently this puts the male at a disadvantage because their chances are higher to actually have the genetic problem.
I have never claimed to be an expert on this topic, I only write to the best of my knowledge! So basically the doctor wants to send us to the next level, the National Institutes of Health's Undiagnosed Disease Clinic. I will not go into grat detail as it is on google. Basically it is a high level program that only chooses a certain amount of cases per year to look at. I am hoping Logan is one of those cases. I have researched the NIH's program in the past and always thought if we got to this point I may advocate to have one of Logan's doctors help us apply to the program.
Well we are at that point at the recommendation of the specialist. This gene that was found may not actually be our answer but it is really all we have to go on at this point. I wish answers would have come sooner and with less of a financial, emotional, and physical toll on Logan and our family. I debate whether it is worth pushing forward. Honestly an answer won't change Logan's prognosis. What will it do for future generations, I don't know. What will the pursuit of answers do for science or for other families, I don't know,
So hopefully we will hear back from the NIH in October. I don't want to hold my breathe but I know it will be on my mind every day. It is torture to think something from inside you passed to your offspring and caused such havoc. I know this is way, way, way beyond human control but that doesn't stop the feeling of guilt. If I didn't feel bad then someone should be worried about me!
In the meantime, Logan is finally getting over a cold. Lauren had it for about 24 hours and he battled it 7 days. He had a fever, was on and off oxygen, had tons of yucky secretions, and was unable to sleep. Tonight I came home from work and the sparkle was back in his eyes! Yay! He may not speak but the story on his face tells it all. I'm so glad this illness was low on the crisis scale. His symptoms were very manageable at home. I think he is going back to pre-school next week. He needs to be with his teachers and friends!
Tomorrow Logan has a check up with the pulmonologist. I always enjoy visiting with Dr. K. I have a few big questions to ask and hopefully won't turn into a blubbering idiot! For me it is important to have a game plan for the future. Part of that game plan is the oh Sh** plan. I won't elaborate too much as many readers will get my drift.
It is very important that I plan for the what if's. I mean come on, I'm an ER nurse who is trained to think worst case scenario. I truly believed that mindset is what helped me when Logan had his horrendous seizure and stopped breathing. I was ready. I had ran similar scenarios in my head a million times and when push came to shove I did it. I helped save his life. So to me, it is important to be ready for the next what if. I don't want to be stuck making a last second decision because I put off thinking about it because it was too painful or scary. I'm sorry but that ain't gonna fly in an emergency and it sure isn't what Logan deserves.
So on we go as usual with bumps in the road as expected. I will post as soon as I hear back from the NIH but I will hopefully post on something else sooner.....
Mr. Logan turns four on October 22nd! Whoo hoo! I can't wait! Every birthday is such a blessing and an extremely major milestone! So until then my friends!