Shaken not Stirred

Man does it ever seem to be more difficult to find time to update lately. It seems like the longer we go between updates the more difficult it is to put it all together. More on that later. Yesterday there was an earthquake in Virginia, you all undoubtedly know this. We have a great deal of friends in family in that area that were thankfully unaffected and safe. We also had tremors here in our area as a result, but nothing too bad. Crazy stuff! Shortly after the "earthquake" we had to make our way to the hospital for a Pulmonary appointment. This was a routine follow-up because of Elias' hospital stay a few weeks ago. Pretty much status-quot, which is always welcomed. Dr Wood did comment on the new adrenal insufficiency. Again he is so amazed that Elias has yet another affecting diagnosis, that there isn't a system or organ in this boy's body that isn't impacted in some way from Fanconi Anemia, yet he thrives and out performs expectations. No one is complaining of course, but it is amazing. He is interested in watching how Elias does over the next 4-6 months with the recurrence or absence of  his spontaneous breathing stoppages. Will the Keppra (anti-seizure medication) have any impact on that or not? He will be working along with neurology to evaluate. Katharine took the opportunity to ask him about the possibility of letting Elias have anything by mouth, knowing what the answer would be but you have to ask you know. He chuckled a bit and hung his head and said, "I don't want to answer that." He still feels it is too dangerous a risk, especially since there has only been marginal improvement in the airway compression along with the lack of growth to assist that. It is fair and we expected that as we said, but again if you don't ask....

Speaking of the Keppra - we have started to see a diminished amount of side-effects with the adding of the Vitamin B-6 along with the natural adjustment. So that is a positive sign. The daily steroid that endocrinology has ordered also seems to be having a positive impact. He has been on that 3 times a day for just under a week and we can already tell a difference. On a not so positive note, Elias' IGG level has plummeted. These levels correspond with immune system function. He dropped close to 200 points to the low 600's. He was around 890. Normal ranges for this is 400 as an accepted low and 1200. He has been steadily declining since May from 920 to 890 and now the huge sudden drop has the doctors a little concerned. We already have gone back to extra precaution mode with him and will continue that for awhile. He will be getting IVIG much more frequently it seems. We got a call yesterday from the FA clinic saying they wanted him in for an infusion this week, but were okay with waiting until next week if need be just no later than that. I think the bigger concern at the moment is we are getting ready to head into cold/flu season and with him being more compromised than his normal is a touch concerning. So they want to figure this out and get his IGG numbers back up as quickly as they can. There will be more on this in the near future we are sure. One final item to quickly note is we are moving forward to see the Infectious Disease (ID) team in order to try and get a better grasp on the c-diff situation. GI is just not doing much to follow-up on this, and he has been put on the same course of vancomycin for the dozenthish (is that even a word?) time. A few of his doctors were NOT happy to hear he was being treated again, because the symptoms were not there 100%. We agreed.  So we are looking for another opinion, especially after the conversation we had with ID when he was being evaluated during his admission.

Overall Elias continues to improve and recover. We are settling into his new routine, which has become a bit more intense as we have increased from 5 daily meds to 9 (most 2-3 times per day around the clock) and 16 overall with the "as needed" and emergency medicines. Kind of reminds us of our first months home. We switched pharmacies 3 weeks ago, they already know my name and face we have been in so many times. We continue to be thankful for how well he is doing all things considered. Especially after being reminded so much lately how unlikely it should be and how incredibly complicated, medically he continues to become. Thank you all for the continued support and prayers. They are obviously being answered.  

other various sundries

Once again Elias’ blog has been unintentionally neglected. Tons of stuff going on with him right now, both medically and developmentally. We did get our IEP written for Elias to begin pre-school at home this fall. The doctors have said that it will be several years before they will likely seriously consider allowing him in a classroom, but there is the reality it may never happen at all. At home he will have physical, occupational, and speech therapies a few times a month through the schools. He will have an assistive technology person, who coincidently also happens to be a hearing impaired teacher and a pre-school teacher that will come in once a week. Between all those appointments, plus his other PT, OT, & SLP in addition to the therapies at Children’s that alone is going to keep us booked. Throw in the medical and we are in for a challenge. This IEP was rather straight forward and simple to put together. We are removing the cognitive and social elements from his education plan at this time as it is not appropriate for him at the moment. While we were initially surprised with how much service we were able to get, we have been warned to be cautiously optimistic that will remain that way. It has been strongly recommended that in the coming years we get a lawyer that specializes in this area to help with the process. There are advocates out there for parents, but a few trusted sources have said with Elias’ needs we need that extra notch to help oversight and push for his educational needs to be met. As with everything, despite some of the horrible tales, we are taking in everything with an open mind and filtering the lessons learned by us and others. Overall though it appears we are in a good school system for him and we feel positive about beginning this fall.

Medically, Elias is Elias. the good come with the bad and that is all you can hope for. He has had several episodes over the past 3 weeks where he has stopped breathing. It has been since March since we experienced this. He has been keeping us on our toes that is for sure. We are scrambling and cramming in appointments as Elias is having a list of surgeries next week. Why are we scrambling? because GI wanted to (back in March) move his already scheduled surgery up (originally set for June) sooner because of some issues they want to explore inside. It seems as though someone dropped the ball and if it had not been for us following up constantly, we’d still be waiting for a date. So now we are having the surgery about the same times as we would have had we let the airway team dictate. It has been a cluster and frustrating the lack of a plan GI has had with everything. But that is what we are use to and have learned that we much constantly follow up with almost all of his providers for things. It is amazing how much time that takes, which has been a major contributor to the blog being neglected. This round of surgeries has the typical airway bronchoscopies to assess his airway, an GI scope to help with some issues we are having in that area. He will have a cystogram and urethral dilation by urology. They will also be assessing his hypospadias and genitalia region for some potential corrective surgery plans. Finally there will be his annual bone marrow biopsy which checks for early signs of cancer and failure of the marrow among other useful info. There will also be a skin biopsy for a FA research project in New York. It will take a few weeks to hear back on the Bone Marrow results. We do not expect any surprises, but you can never be too cautious with FA. In the near future Elias will also have another MRI as well. We believe that about covers the surface of what is going on the past several unreported weeks. We will certainly try to do better.

Clinic Today

We just returned from Elias Pulmonary add-on visit. Dr Wood was pleased with what he saw today and said that he felt better having laid eyes on him. He really just wanted to be certain that Elias had not also contracted on of these nasty respiratory infections going around. That is not the case, thankfully. When Dr Woods nurse walked in Elias was walking around the room. She was so happy to see that. I think Elias gave us all a much bigger scare this time around. As always it seems he has bounced back as quick as it came on leaving no evidence. Regardless, we will take it. We discussed what we did here at home and how we should proceed in the future. No real changes despite everyone’s desire to figure this out. He did give us very high praise for making the decision Sunday to increase his ventilator support. That is what we will continue to do going forward. As he said, “Elias drives the bus, we are only passengers. We go where he goes.” We are not really doing much to chase down a reason – it is unfortunately a fact of life. You could probably draw a similarity for this as sugar lows are a part of diabetes. Despite your efforts to control, at times the body takes over and dictates. I suppose the intense difference in intervention makes that a stretch, but you get the idea. Thank you all for the support the past few days and prayers. These are always appreciated. We are pretty exhausted, so we are grateful this round is behind us. Until the next time we can all breathe a little easier – Pun Intended!

Wednesday’s MRI Scan Results

While we had planned on an update today anyway, it was suppose to be all positive updates. Apparently Elias found out, must have overheard while wearing his BAHA (kidding of course). Last night shortly before midnight Elias decided to stop breathing again. He has been due for a series of episodes as we have been on a pattern of roughly every 4-6 weeks for quite awhile. He made it through the night with his oxygen saturations staying at safe levels, but lower than normal –even for these episodes but he let the ventilator do 98% of his breathing for him. No oxygen had to be used so that is another positive. We have already contacted pulmonary this morning to see if they want to do anything. Waiting on a return phone call. The stress of it, while high & intense is manageable –from experience maybe, but the frustration level increases every time. We just wish we could figure this out so we can prevent them.

Much Improved

Elias has improved since our last update. Thank you all for your  thoughts and concerns. His pulmonologist wasn’t certain if what we had was viral or not. We had already started Ciprodex over the weekend which he felt was the best thing to continue, unless it was viral. If there was not any improvement by Tuesday morning then we would need to do something different. Fortunately, there was improvement and he has continued to improve today.

Airway Concerns

It has been a rough night and morning so far. Around 3 am this morning Elias began to cough persistently and blow bubbles out of his nose (beautiful image eh?). He was in need of frequent suction and almost unable to stop coughing. His O2 Sats have been low and his heart rate high. He obviously has something going on in his airway. We just are not sure if it is irritation or if he might be getting sick...