Monday, September 16, 2013
Finally, after 10 weeks we have our results of Bruce's labs. 10 weeks later was a long wait for all of us. On a good note he has been feeling better and moving around better. Bruce is walking, wants to run but can't and that's frustrating. He still fatigues easily, legs hurt as well as his muscles. Bowels are still the same as always "extremely sluggish" and the restless legs are starting to ease up on him. His stiffness has gone...YaY! He has continued with his Physical Therapist. There is a lot of improvements. He still has exercise intolerance as well as heat intolerance but were trying to work through it. We have to learn to pace ourselves. He has found a bit of freedom and its hard to stop him. It just takes time. This sounds like its a mix and im all over the place and I am... or we are. Hes getting better but not. We see improvements but its kind of like putting a band-aid on it. So in order to get the utmost help from his vitamin cocktail we need to know exactly what he has...and yes am hoping that the doctor in Atlanta can find it.
Our lab work came back in the grey area. Have no idea as to what I'm saying because it is very confusing. I guess you need two tests to come back positive and Bruce only came back as having one positive gene. Our Neurologist and the gene lab suspected that the second gene is hiding or silent. It's there it's just not showing itself. She wanted us to see another Neurologist before doing anything invasive but what ever another Dr says who doesn't eat sleep and breathe mitochondrial disease would be a waste of time. Yes I think you should get a second opinion. Not in this case. Since his first muscle biopsy was part inconclusive and part positive and he's doing better on his cocktail of vitamins (which shows their is a problem)...it's just going to the right doctor to clear this up. By clearing this up I mean by getting a muscle biopsy again along with a lumbar puncture. By no means are we ever or will be ever in the clear. I can not say oh good, take your vitamins your on your way to beating this and I can have a clear mind. Yes everything I have done and fought for is coming to a finale but only time will tell what direction Bruces body decides to take. This has taken a toll on me...from crying in the shower to my hair falling out and it aint from hormones. Again, he looks good but damage has been done internally and can continue. I am hoping that with the right combo of vitamins this disease can at least be slowed down and maybe put on hold. Which disease, is still up in the air.
So...The Test that were requested: Combined Mitochondrial 140 Nuclear Gene Panel/Sequencing and Deletion analysis of the Mito Genome and Sequencing, and deletion/duplication analysis of 140 Nuclear Genes.
This is the interpretation: This individual is heterozygous for a G79D variant (likely mutation)in the SUCLG1 gene. Mutation in the SUCLG1 gene are associated with the autosomal recessive disorder mitochondrial DNA Depletion syndrome 9. No second variant is identified. However, the possibility that this patient harbors a second mutation that is undetectable is suspected.
This gene has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The Amino Acid change is non-conservative in that a small, uncharged Glycine residue is replaced by a larger, negatively charged Aspartic acid residue. This change has occured at a highly conserved position in the SUCLG1 protein and analysis models predict that G79D is damaging to the SUCLG1 protein. Therefore, G79D is a strong candidate for a disease causing mutation.
So...as soon as I said mutation...my son thinks hes part of the X-Men! Hes ready to go to Atlanta.
We have started the paperwork with the doctor in Atlanta. We are waiting for them to give us a date so Bruce can stop taking his vitamins. He needs to be off all vitamins to get a clean biopsy. This means Bruce will go back down a long road that we all don't want him to go down. At the end of that road he can start his cocktail back up and then we wait another 12-16 weeks. We won't know anything until next year.
It all sounds great and were making headway...but if the gene can be passed which it normally is to a daughter we will have to look at my daughter as well, this disease can come out any time in her life not to mention that there is a very good possibility that both could pass this along to their children. Then you have to think about the possibility of not having children. Their are so many variables at this time and its so confusing I cant even write about it. I do know that this disease could be mild or complex for them and for their kids and I don't want this for either of them.