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.

Neurology & Endocrine Follow Ups

We had been holding off on an update to get results from a few things, but it appears they are taking longer than expected to complete. So we will update on what we have from the follow-up visits last week. We conveyed our observations and concerns over the possible side-effects Elias has been exhibiting from the Keppra, his anti-seizure medication. Neurology agreed that these were likely linked and have added vitamin B-6 twice a day to his medication regiment. There has been some success with counter-balancing the Keppra with this vitamin. It is something we have to crush to be able to give via G-tube, so there is a small process to prepare it. So far it hasn't been too bad and our biggest worry was clogging, but it seems we are crushing it fine enough. We also changed the emergency medication and protocol for if he actually has a seizure again. We will be giving Midazolam. After we draw it up from the vial we will remove the needle and actually push the medicine into the buckle of his mouth - pocket between the gum and cheek. This will allow for quicker absorption into the blood stream. We are also going to give this the next time Elias spontaneously stops breathing to test if the clusters continue or we isolate the behavior. This will help to figure out is that issue is seizure related as pulmonary suspects. The biggest surprise from the appointment was to hear that his neurologist still feels strongly that Elias had meningitis despite the very well reasoned logic from Infectious Disease (ID). To recap, ID felt that Elias recovery time alone was too brief, there were no signs or symptoms prior to the seizure, and a seizure is not the initial presentation of meningitis. Furthermore looking more in depth at his blood work, there were not any of the other tells you typically see. Impressively his Neurologist brought up the point that Elias is far from normal when it comes to lab work, symptoms, and recovery. This makes for a very strong argument against ID's thoughts. Flashback to July 2008 when the tracheostomy and G-tube was placed. Elias was just a bit off, and it was a Mother's intuition nothing physical that made Katharine press the doctors to run tests the night before the surgery. His blood work showed no signals and his physical exams were fine as well. We found out that Elias had full blown pneumonia that went undetected because there were not any "typical symptoms." Elias had to battle for his life after crashing on the operating table. So what does all that mean....well medically, nothing. It means we don't truly have an answer and must proceed as seizures are a new problem that will strike randomly. It also reminds us and deepens the vigilance we use becoming concerned at the smallest of changes. In you or I it would present much stronger, in Elias it may appear business as usual. All-in-All we will simply keep doing what we have been doing, successfully. Before this we had kept Elias out of the hospital for an illness since April 2010, when he had a MRSA blood infection. That includes 2 winter seasons unhospitalized (ie; cold/flu/rsv hell) for a trached child that is amazing, as the doctors reminded us.
We are still awaiting the endocrinology results in reference to the possible adrenal insufficiency or dissolved regulatory response. This may mean another medication daily, a steroid instead of the stress dosing we are set-up with now. We are also going to be checking his blood sugars a few times a week for 4-6 weeks just to make sure things are working as they should. They do not feel this is an issue, but this will make them more comfortable in evaluating the big picture from an endocrine stand point.

We are beginning to see Elias level out a bit and regain some of his energy that has been difficult to watch. He has had a good week overall with the amount of time he will play and how he has felt. Part of it is adjusting and let's face it Elias was very sick so recovery will take time. The doctors did a wonderful job disguising the seriousness of things while he was admitted - giving it due attention mind you, but keeping our stress down and concern level low. However, now that he has improved they have not been shy telling us how very concerned they were and sick he was. Dr. Mehta, his bone marrow/FA specialist commented to us in clinic she has no idea how we handle it, but she is glad that we manage somehow for Elias sake. That is just it, it is for Elias' sake. She also reinforced how challenging and unique he is medically on all fronts. We appreciated the compliment and vote of confidence, which several of his doctors have made over the years. We told her that it helps to have great doctors caring for him and talented enough to handle his challenges and be pragmatic with his plans. They have provided us with the tools and we have embraced them. Without them, along with supportive family and friends we would not be half as strong as we are. It serves as yet another reassurance that we made the best decision coming here for his care and reminds us that he has some of the top doctors in the world - for their fields - working with him. We couldn't ask for more. Thank you for the continued prayers, support, and uplifting motivation. As I posted on Facebook this morning, "Tomorrow will be a better day because we are privileged to be granted the opportunity."

Florida State University Football & Elias!

This week Florida State University Head Football Coach Jimbo Fischer announced to the media that his youngest son, Ethan has Fanconi Anemia. Our thoughts and prayers are with them as we know how difficult learning of this diagnosis can be. We welcome them into the FAmily for love and support. It is a reminder that no matter how rare this disease is, it is still a small world.

Day 5 - Closer to Discharge

Elias continues to improve each day. He is behaving like himself and reacting appropriately to actions which is a reassurance that any brain damage is nonexistent or very limited. We have been very happy to see his rapid progress and the doctors have been surprised at the rate he has recovered. While the spinal fluid is still being tested preliminary results suggest that it is a viral meningitis that caused the seizure. They still have him on a broad spectrum of strong antibiotics to ensure they are covering every possible cause. It is likely we will never know the type and source of this. Elias has a MRI scheduled in the morning. We do not expect there to be anything significant to report and we are hoping with Elias improvement they will let us bring him home after the MRI clears him.

Showing us he is better!

One of the other interests of note brought about by this is a possible adrenal insufficiency. This is when the body does not produce adequate amounts of steroid hormones (chemicals produced by the body that regulate organ function), primarily cortisol. It has us thinking that possibly this could be contributing to Elias' breathing episodes as well. We are going to discuss this with his Pulmonologist. It is a long shot, but hey it is a lead right? Back to the insufficiency....They are doing a test in the morning that should clarify if this is indeed an issue. Elias' thyroid numbers have been creating some concern the past month or so and we had planned another check this week before all this occurred. It is possible they were pointing to this. Not that this was the cause, but for those who know Elias and followed us you know that he has a way of showing the doctors answers to questions they didn't even know they were looking for. It has been this way all his life. He is just so nonclinical in so many ways that events like these usually uncover underlying issues. Due to this Elias will likely be taking medication to help manage this. We are meeting with someone from endocrinology in the next day or so for training on stress dosing (recognizing the need for and evaluating). We are building quite the resume for training medical experiences. Elias will also be adding anti-seizure medication as well to his regiment even though they feel the seizure was caused by the meningitis and is not a source of a new issue. We will also be given some training on effectively managing him, but as they pointed out, we did a wonderful job of doing what we did despite not really knowing what to do in this case. It saved his life and maintained his quality of life.

Elias has been his usual come back kid self. We are so grateful for his will to fight and survive. This has been an experience that will impact us forever - in a positive way. Hopefully, it will clear up some other outstanding issues and we can move forward. We are diligently working towards identifying, resolving and stabilizing all of Elias medical complexities and challenges not only to improve these, but give him the best chance to survive his bone marrow transplant when that day finally arrives. His will and fight is already evident, but will his body be up to the test? We believe we are taking a huge step to help that and will continue to do so. Elias has some incredible doctors and they are going to provide him the best chances. They are looking out for him and that gives us confidence. Our faith has been tested time and time again, but we hold strong to it and look towards it to provide us with the solid foundation we need to be the best parents we can for this amazing little boy. Your support, thoughts and prayers have been nothing short of incredible these past few days especially. But we recognize and appreciate everyone of you everyday. It is not always easy, but somehow we always manage to find a way. You provide us the courage and confidence we need to face each day and tackle each new challenge for his sake. As they say..."it takes a village..." Thank you for being one of those villagers.

Bone Marrow Biopsy Results

We heard back from the FA clinic at Children's with the final results of the bone marrow testing that was done last week while Elias was in the O.R. All the test have come back normal and within acceptable limits. That is the positive news. Elias' cellularity is low though at only about 20%. The doctors have commented that this is a relatively new focus for information and they have not determined exactly how to interpret these results completely with every patient. There is a bit of a learning curve with variables impacting the interpretations. Those numbers are something they see in someone with much lower counts, so watching Elias, who's counts are fairly normal and stable is making this more of an "interesting find." They will be watching this closely. Elias' platelets have dropped overall, but still well above a level of concern. They have been trending up and down since November when the dropped to 85k after the failed colostomy reversal surgery. They had risen back to his baseline of 215k but the past several months they have declined and are holding steady at 150k. For reference when he gets to 50k is when the radar gradually starts to tick for bone marrow transplant. No one is concerned too much with the new lower baseline. A decline is expected and this is likely the natural course. One thing that is possible, but not proven is that with the lower cellularity the numbers could plummet vs gradually decline, but that is something they have yet to establish. They admittedly are not use to seeing patients with numbers as good as Elias. That is the beauty of rare disease and treating patients with so many variables. We are fortunate enough to have such dedicated doctors that will account for any and all possibilities. This provides all the other issues the time we need to get Elias as strong as possible with all the other affected systems to give him his best chance during transplant. Overall these results were what they expected and they are pleased. Elias continues to thrive developmentally and we are taking the time to appreciate all he is achieving. Here is a video we posted last night showing how happy he is and how much fun he has when he is feeling great! You can't help but smile when you watch this.

The Day After

Elias had another trip to the OR yesterday. This was all the standard follow-up procedures he has from time to time. He did very well during the 6 procedures that lasted around 2 1/2 hours. He woke up from anesthesia in typical fashion with a baseline of lower than normal O2 sats, but he quickly pulled them up by the end of the night. All the doctors were please with what they saw, at least those that could report.

Pulmonary & ENT are happy with Elias airway, that is in Elias standards. There is evidence of slight improvement in the compression, but nothing to get overly excited about. However, with Elias and his airway the smallest of victories is welcomed. Growth still is going to be his best ally towards achieving much improvement. That is something he has struggled with so that will not likely be helping anytime soon. Overall they said given Elias history they would accept this as the most positive overall bronchoscopy & ML&B they have performed. GI scoped him all the way to the small intestines and found no evidence of any fungal infections (which was a concern with all the antibiotics he has been on) or any thing out of the ordinary - again for Elias standards. The TEF repair site continues to look great and the stricture was not in need of dilation. His Nissen looks good as does his G-tube placement. The small intestines were a little tight, but that was expected with the failed colostomy take down and herniation of his bowel. We did not get to speak with Urology so we have nothing to report as of yet and it will be a week or two before we get results from his bone marrow biopsy & aspirate. He has been doing well today, a little tired from lack of nutrition yesterday, but overall his typical playful and happy self. We will update soon when we begin to have results come in from the testing.