The Annual Jolt

Yes it has been two and a half months since our last update. Things have been that busy. In fact busy is an understatement, insane is more appropriate. This past Wednesday was the first day in almost 2 months that we didn't have a surgery, appointment, testing or therapy scheduled. It was short lived as we have been back at the past 2 days with appointments and this coming week Elias will have his third surgery in 7 weeks. Quickly for those who do not know, Elias had the titanium screws placed for the abutment on his BAHA hearing aid placed last Thursday. It was a decision not made lightly and we had to convince the insurance this was necessary as Elias is a year younger than the FDA approves. By the grace of God and much to his ENT's amazement there was very little resistance on approval and the surgery notice was literally 6 days in advance. Very little processing time. As the doctor put it, this has to be the right step and meant to be for things to go so smoothly on this end. He stated our overall hearing/communication journey with Elias has been the most unique and difficult he has seen in his career. It will take 4-6 months for the screws to calcify to the bone at which time we can begin use of the BAHA processor attached to the abutment rather than on the band, which Elias despises. Surgery went well and he has recovered nicely and quickly. In fact the day after surgery we had to return to the hospital for IVIG and he was jumping on the bed! God love that boy.

Today we went to Urology for a follow-up on several tests and procedures Elias had done last month. We were not expecting too much news on this front, but we were wrong. It seems about once a year there is something that jolts the picture. Year 1, the Fanconi Anemia diagnosis. Year 2 the ventilator. Year 3 was the seizures. Today, Year 4 Stage 2 kidney disease with the need to further study his kidney and bladder functions. To put this in perspective, kidney disease has 5 stages, 1 to 5 which is failure requiring dialysis and potential transplant. Stage 2 while serious can be managed well with all that has been learned through research, studies, etc. It is defined as mild decrease in kidney function. His GFR is 75, stage 3 begins at 59. That is positive news, but can we prevent the progression to stage 3? Part of that, from our understanding is trying to determine just how much work each kidney is doing. Ideally it is 50/50. Elias has an ectopic  kidney which is lower than it should be and misshapen. This really only matters if the "anatomy" of the kidney is such that prevents or resists function/flow. While this doesn't seem to be the case, no one has said it isn't either. We don't believe they know for sure at this stage. We did urodynamics study that was inconclusive so we need to do a nuclear scan of his kidneys. This will provide more information overall and we will know more after that. There is concern that his bladder may have too much pressure, which in turn affects the kidneys. So there was a discussion about placing a Mitrofanoff. This is a surgical creation of a catheterizable stoma & tunnel from the abdomen to the bladder using part of the bowel or appendix. Elias' hyposapdias and urethral complexities make him impossible to catheterize through his urethra so this would be the answer. Not sure were they are going to find a place on this little guys body to put it as he already has so many other opening on his chest and stomach. In addition to this there was discussion about potential surgeries, urethral reconstruction,  hypospadias repair and Ureter repair to help with the kidney reflux which is still severe. We still have the potential colostomy reversal to consider trying again as well after the failed attempt before. There has been a trend they are noticing among children with both anal-rectal malformations and hypospadias that makes all this a bit more complicated from others with similar issues according to the nurse coordinator.

The bottom line is once again Elias' exterior has fooled everyone and another serious issue is now racing to the forefront of priorities. We will be talking to his FA/Bone Marrow doctor about this as well. It is good we are getting a grip on this now as the kidneys and liver are typically the harshest affected organs during bone marrow transplant. The drugs that have to be administered through the process are just so strong, making them work harder, it is important to get these organs in as great a shape as possible to provide Elias with the greatest chance of a successful bone marrow transplant. Thankfully we are still predicted to be a few years away from that so we have time to make this problem better. As we learn more we will keep you updated. Thoughts and prayers for Elias to overcome yet another adversity are appreciated. Hopefully we can update the blog more going forward, but know even when we can not, we are thankful for everyone's support.