It was around this time last year that I got a call telling me that Emmalin had tested positive for the CDKL5 Gene Deficiency. Yes, when we got the call our lives were shattered! The hopes of Emmalin being able to be “fixed” were gone forever! But you see, before we had this diagnosis, we had been told that we had like an 80% chance of never finding out what was causing all of Emmalin's seizures (and she was only 17 months old). We had been told that it was probably something that was metabolic or genetic, and that there were literally millions of tests that they can run for those. So our game plan was to test for one thing, get it sent off to the Mayo Clinic (or where ever the one place in the US was that would run the test) and then wait for the results to come back(which normally took anywhere from 6 or 8 weeks). Once we found out we could rule that out, we would then draw more blood or do another spinal tap or whatever, just run the next set of tests. Emmalin was getting poked SO much and SO often!!! It is for this reason alone that I am SO incredibly thankful that Emmalin has a diagnosis!
Since she has tested positive for CDKL5, we have been able to take out the guessing on some of the options, medicine wise, and have been able to narrow in on what we think will work best. We have also been able to join a support group that is based out of the UK that is just for people who have a loved one with CDKL5 (which has been a HUGE blessing). Through this support group, I have been able to ask questions and read blogs about other children who have CDKL5 and it has helped me have a better understanding on where we are headed with Emmalin. I guess the biggest difference is just that, we now have a lot better understanding on where we are headed and what to possibly expect (at least a little bit) and that has made all the difference in the world!!! It just makes us not feel so lost with Emmalin and I FINALLY "feel like my head is starting to come above the water"! Getting this diagnosis changed our lives!!! And even though we would have loved for it to not have been something like CDKL5, like I keep saying, the fact that we now have an idea of the direction we are headed has truly changed our lives, in a good way, forever!
God is SO good!!
Man, a year already?!! I remember that day when you got the diagnosis.
ReplyDeleteInformation is power and, at least for me, information is comfort! So many live with ??? and no diagnosis. Tough stuff!! Glad you got answers pretty early on and have found a wonderful support group(s).