Sorry in advance..this is going to be a long one..
Yesterday may have been the hardest day ever for me..and let me tell you.. I have had a few by now :). But I also have had some wonderful life experiences and gifts to be thankful for and for which offset the worst times by huge measure.. I am emotional at the moment so I will probably end up saving this and waiting to send it out when I can remove any words of anger and "clean it up" for sake of the innocent.. We were already dealing with Sam's chronic return of illness in the past week. Basically a repeat behavior of the illness from 2 weeks ago and also of the one from before Thanksgiving. We worried we might be back in the hospital during Christmas but somehow we narrowly avoided it but are here now. Then on Monday, I checked my email and had a big whammy of news in the form of Sam's 79 page report of biopsy results ..I know.. I know..we knew it was coming.
I should have been better prepared. I had actually called to check about it on Thursday and they said all reports were running late and so I dismissed it and moved on to worrying about his worsening illness. The report was mailed to us on Christmas Eve - Thank you Lord for redirecting me away from my email at that time so I could clear my head and give the girls some joy without crying through our birthday party for Jesus.
I saw the email and almost instantly called Jason knowing what it was. He would not stay on the phone while we read it and so I called a dear friend to stay on the line while I went through everything. I did not want to read it alone..I guess that is how Jason and I differ most..he deals well in solitude and I am a need-some-support kinda girl. I was so nervous as I opened this 79 page report of mumbo jumbo that only the brightest Harvard chem grad could decipher, that I nearly missed the whole point. Sam has defects of Complex 1 and 3 (maybe something wrong with 4 too) in the mitochondrial enzymology chain. Probable Mitochondrial Disease. UGH. Tough to swallow but we had known it was suspected. Why is it so hard to see it in print? It was insane how much this report entailed in its 79 pages.. I barely got two paragraphs in and I knew scarey stuff was lurking..I have since read it all and realize that there is too much for me to even begin to understand. The results mention other issues as well but all is well over my head. He describes lab finding after lab finding and more data than I could even comprehend. One biggie is that most who have this do NOT get it from their mother as many believe. Most get it in an autosomal recessive fashion or as some form of mutation or gene damage.
There is still pending research on some aspects of his workup and the disease confirmation is listed under probable because they basically need to find the bad boy gene for final confirmation of primary mito disease..This mito dysfunction could all still be secondary from some insult or other pathology. They have a mutation they are investigating. I have about a million questions.. So we will hit on those when we go to do our follow up in person with Dr S or his nurse on Jan 10th in Atlanta.
The nurse in their office says it is probably good that we don't fit into the 5% crowd that get an exact "syndrome" diagnosis with all the gene confirmations and linked info because that can mean we are farther along in negatory territory..but I feel already in the few months since we did the biopsy we are already in far worse territory than when he was clinically evaluated by Dr.S for the biopsy. We did not have the major GI shutdown going on back then..uugh. which brings us to why we are back in the hospital ICU again today.
Sam's illness of last week started after 2 vaccines Monday (our first since age 4 months). We made a plan to spread them out slowly (much more on this in a later post). He had low grade fever and then no fun at speech therapy and sounded junky, labored breathing and this got worse over next 2 days with higher fever of 102 which went away but he was still laboring and weak. He got started on antibiotics again for an infected ear and then all of a sudden GI started going capute again on friday/ saturday. By sunday morning we were having bradys and turning blue in my arms and he had a seizure which I think was likely due to his meds not staying down. When I say his Gi goes capute basically I mean that you either can't get it to go in the g tube or you get it in and he writhes in pain and pushes it all back out like vomit but through the gtube syringe used for venting. He had gas and not much stoole (which is usual issue for him) but what he had was loose. He is already on laxatives 3 times per day and colace. It got better when feeds were on hold for a while but then he would go into crisis when anything(even meds) were pushed in. He had bradyed (dangerous low HR) all the way home from an opthamology appt on monday in pensacola that monday afternoon. I was pulling over the car and giving oxygen and I guess in retrospect that was due to his bradycardia meds not staying in with these feeds.
I got worried about repeating the dehydration and dangerous bradys we had before where we got to a point that I could not even get little amounts of pedialyte in for days. So I called the GI doctor and he said we needed to be admitted.
So luckily, Tuesday the nurse was at my house for the last insurance allowed days and helped me get Sam packed and meds and records ready etc. I was graced by a sweet friend taking the girls. My family also agreed to take them over from her later. We peeled out of there and got down to the hospital in what seemed like took hours.. Of course with no feeds going he started perking up and looked down right calm when we arrived. They gave him fluids, did x rays and rectal exam all the while saying we would have to stay regardless of findings because of his crazy history and dsats he kept having. They then made me give him a feed just so they could witness his behavior..seemed like torture but we did it and boy he showed his true colors. He did not tolerate the food and furthermore started going into painful contortions and respiratory distress. He had a blue dsat episode and went back on the o2. I will try to post a quick video under my afewnegron youtube.com account as sam12.28.10 if possible.
We were first admitted to the floor and are now in the ICU because he decided to misbehave this morning with another blue dsat episode. He had been dipping sats into the 80s but on this one he stayed down at 79/80 too long. The bad part about the floor was I called the nurse on the call button and said he is blue and I need help but noone came for like 5 minutes. By then he luckily had recovered but this has happened to us before on the floor and I got pretty mad. I think it was the meds they put in his tummy that put him over the edge. He is off all other food in the tummy. I had a sweet visit from my friend Jenni and we shared coffee and a change of scenery down in the cafe by the Christmas tree. Hate that our reunion had to be so short and in such a place. The last time I saw her was in Atlanta under similar circumstances.
So for now they are planning for Sam to get TPN (liquid nutrition basically) by internal port or picc line as they have stopped doing peripheral IVs for TPN at this hospital as it strips the veins..so this may actually mean we would leave with a port which could be helpful at giving IV fluids at home or meds in emergency but not having nursing at home with a port seems impossible for me to manage alone. To place the port he will have to go under and this brings more issues as he often misbehaves while under anesthesia, sometimes requiring intubation. Hope that is not the case this time..at least now they do have a pediatric anesthesiologist on staff. I don't know at what stage we have to consider other hospitals. They have discussed pyloroplasty (sp?) if a gastric emptying study shows warranted delay but right now they are holding off on doing the study to see if he rebounds first. They think his gut just shuts down when it gets low on the energy fuel ATp what have you from bad mitochondria. I think in that scenerio I would prefer a G/J tube placement which would allow for feeds to bypass the stomach during those times when his tummy just wants to shut down operations. I hope we are not experiencing a worsening of his condition and that these last few illnesses have been just that..winter illnesses that he just can't handle like other kids. His little body decompensates or "crashes" as I often call it.
I have prayers tonight for several families. My friend Robin's father is being transferred to an LPAC in Birmingham today in a critical medical state and they are just trying to ensure a safe place for him of convalescence. I believe they feel it is just a matter of time and I know they are enduring great strain and grief. Her father is greatly loved by all who know him. My prayer is for peace and rest for him in a safe and caring environment.
I am also praying for another sweet mito child of a mom whose blog (www.terratalking.com) I often follow, back in the hospital as well with very similar symptoms/ circumstances as Sam's and even though I don't really know them, I pray for them often. Somehow I relate quite a bit with this mom. She was also a MOPS leader and Christian mom of 4 daughters.. I thought I had it crazy with my 3 munchkins! There are so many other sweet babies out there fighting this disease and it is such an aid to me to connect with them and learn from their experiences..how they coped etc.. There is a United Mitochondrial Disease Foundation site(www.UMDF.org)that has also helped me in understanding more about this disease as it has such a wide range of symptoms. Most of these kids, like Sam, look so normal and it would be hard if you saw them to know what serious challenges they face daily. I certainly feel naive to only now understand more about the medically complex kids out there. I will probably pull together some of my research to post here eventually..in the meantime we are focusing on treating his symptoms and thinking positively for the future! God Bless and thank you for those of you praying for our Samuel!