Well it's Semi Official, but the Doctor doesn't think it's going to change in 1 month when we receive the Final Diagnosis. But it is what we have been thinking it is for the past 2.5 years. Let's just say his pediatrician thinks we need to go after the geneticist from a year ago telling us it wasn't this to begin with. Konner has Hereditary Spastic Paraplegia SPG 4 with a rare mutation. He is the 1st child so far in the world to have this rare mutation gene and he is also the 1st in the world so far to have birth onset of this gene as well. His condition is showing that it is disease onset which means that his condition is not hereditary from either of us but he is a 1st to start it for future family if he decides to have children. His chances of it being hereditary are 25% though. Our next step is to meet with a urologist to find out if Konner has spasms in his bladder and then he needs to have continuing food therapy since they believe he has spasms in the throat area causing his overactive gag reflex and texture aversion. Once we get our final diagnosis next month we are to make a call to Dr. Fink at the Univ of Michigan to have him start monitoring Konner's condition etc since Konner is a child onset. He is a HSP medical/genetic guru. I'm so happy to finally have a diagnosis and we don't have to keep going back and forth on this HSP thing anymore. I feel so relieved and that my prayers have finally been answered. I have been waiting for this day for almost 4 years!!!
Results from his seizure 48 hr exam from December has us and his pediatrician extremely confused because Konner showed a lot of spike activity etc but they are saying it is not seizure related what so ever. Which is very confusing to us since he shows that sort of activity. His pediatrician was going to call his seizure Neuro to have a consult to go over the results since they do not make since unless they are some sort of spell.
Since Konner's condition has been getting worse over the past couple of months tomorrow morning he will be trading in his manual wheelchair for a power chair. He no longer has the core strength to push his manual chair anymore, runs out of energy, and keeps falling out of it even with his seat belt on. He is no longer using the canes since he has lost core strength and balance.
This is our update on Konner for the past couple of months enjoy the excitement with me and THANK YOU for all your support with me through this long journey that I have been on for about 4 years now.