Wednesday, August 15, 2012

The end of Summer is upon us...

I feel both excitement and sadness at these last days of summer..

We have made so many good memories. At the beginning of the summer we created a list of all that the girls hoped to do over their summer and although we could not cram every last one of those activities into these few short months, we made a pretty good stab at it.


...went on nature walks.

...sunbathed and swam in the pool.

...curled up with good books together.

...had fun game and movie nights.

...played in Yamma and Papi's yard.

...had our first sleepovers both here and away.

...went boating.. many times.

...went to a few movies and even ate dinner in a theater.

...watched fireworks.

...had BBQs with family.

...went to the beach.. and then realized we took so much of the beach home with us each time that we might as well stay home and swim in our pool (without all the sand)!

...gardened with Nana.

...enjoyed visiting family.

...made special art projects.

...went to the playground for a picnic.

...went to the water park with cousins.

...tried paddleboarding.

...attended two different vacation bible schools. Both wonderful experiences.

...went to our favorite library.

...enjoyed a girlie spa day.. at home.

...went to Orlando as a family. Twice.

...played in the rain.

...made dinner for daddy and sometimes just ordered chinese :).

...attended birthdays and tea parties.

Overall, it was a very special summer. I am not really ready for the girls to leave on that school bus, but at least this year, they will go to the same school together. It will be different with just the boys here. And so we begin a new chapter..

Tuesday, August 7, 2012

New Frontiers Part 3

After leaving Shands with our new temporary gastric stimulator, Sam had some trouble in the car with gag like/ sneezy moments and then rocky breathing and mottled coloring. I had to pull over and set up blow-by and eventually his sats went up and he seemed far better. We got home and he was energetic and happy to be with his siblings. He did have some discomfort while sleeping and a few desats so we used blowby near him in the crib that night, but overall he was normal on Monday and even did quite a bit of eating by mouth. I figured he needed a few days to get over all that he had gone through with the procedure. I was really encouraged that the stimulator sis seem to be working. He was soo hungry and eating more than ever. We saw his pediatrician in follow up that afternoon and even his Dr. was excited to see Sam in such a great state and calling out to "Eat, Eat!." He agreed that maybe this stimulator would be a great aid to Sam.

That night, however, around 3 am in the morning Sam began having trouble. The nurse was using oxygen to help him, but he was not doing well. He was weak, moaning and dropping sats a bit, running fever of 100.6 or so (which is actually high for him as he runs sub). We had diarrhea that day and some residual on venting but it always flowed back in ok, so the stimulator seemed to still be working. He was clearly very lethargic and losing ground. He had one diarrhea early that afternoon. We then went to the Dr and he ran a CBC which was all clear and his chest x ray looked fine. He was at 102.5 fever by then. He was a rag doll, not focusing on us at all. They gave him a Rocephin shot in the Drs office and we went home. He did not get out of bed again all night or the next day, hardly moving a muscle.. very weak and lethargic. He looked incredibly pale and had more diarrhea. He was so pale, almost ghost like. He looked like he was getting thinner in the face too.. but his belly was quite round and distended. We were running his feeds at the usual rates and he seemed to still tolerate them..unusual for him during illness.

I took a rather rank and liquidy stoole sample (not my favorite mommy job) to the lab and awaited those results, in hopes there were no signs of c diff. All the while, he was tolerating the feedings at the same rate we used to put in his J port, but now in the G (there was no J at this point). The rate was incredibly slow for a G feed but we were still building him up to taking a normal bolus feeding and he was getting his normal amount. A bolus would be essentially the same as giving him a normal sized meal portion all at once several times a day, whereas for a year and a half, Samuel has been fed at 55 ml per hour of his formula over 16 hours of each day.

At this point we began asking ourselves, could the stimulator be stealing his energy? Could he be having some kind of non absorbancy or dumping phenomenon with the simulator? But that would hardly explain the couple good days and then the fever and diarrea. I even considered the hand as a source of issue, but it looked normal. Everything pointed to an infection but the CBC had looked good and we had already tried the old stand by broad base anitibiotic. Well, by Wednesday night, we could not hold off on figuring this out any longer. He was fading out on us. I think our night nurse thought he might die on her shift and was probably worried about when I would make the judgment about going to the ER. My problem is that our ER is just not well equipped for him. We went to the Dr. on Thursday and he had a comprehensive metabolic panal pulled and another CBC. It showed really bad dehydration and electrolyte imbalance... likely from the diarrhea but extremely dangerous with his mitochondrial disease. He had lost over 2 lbs in 2 days. The puzzeling part was his CBC still looked ok.

We were then sent over to the ER for an IV bolus of fluids and to take a life flight to Shands Childrens, about 5 hours away. It turned out that the life flight can't make it that distance so it had to be by ambulance. How would we pay for this later?.. who knows, but I knew I needed to just focus on getting him help and figuring out what had happened so suddenly. I really feared that it might be an adverse effect of the stimulator.

They had an impossible time placing his IV. I am convinced that most techs jump in thinking they can get it done on Sam in no time and act too hastily and blow every possibly good vein right from the getgo.. then the nicu nurses or stat teams have to deal with whatever is left.. every time. He just has no good veins left at all and being dehydrated made this problem even worse. Needless to say, the tech blew several veins and when she finally congratulated herself on her hard work at getting one (honestly, I think Sam did more of the work), our own nurse pointed out that it seemed to be infilltrating. The tech disagreed and said that she had just flushed it and it went in fine. Then our nurse asked her to turn off the pump and check again.. and guess what? Big suprise..there was a lump where it was infiltrating into his arm. We would have gone the whole way to Gainesville on this bad IV so I am thankful it was caught early. I try not to get agitated with people who are helping my child, because honestly I am so thankful there are people help. period. But the hard part is the spectrum of work ethic and professionalism and good attitude brought by the various people involved. Certainly we have learned that some are more careful, conscientious, understanding and open to feedback than others who seem to be just picking up a paycheck. That is hard to overlook when your child is being poked and prodded with needles and fighting for life. In the end, the paramedic from the ambulance company got our IV started.. so I dont think the ER should be getting any of the green$$$ on this one.. but they will.

The drive down went as smoothly as it could in that he had no bradys or desats, a common theme in this particular illness (unlike in his history). The paramedic was very nice and attentive. She said Sam's T waves on the EKG were really elevated, but somehow I think his has always looked like that. His EKG has always looked different than the typical, but I dont fully understand these patterns. She said it might be the electrolytes, which made sense. It seems Sam was hypokalemic with very low potassium at this point. His sodium was low, potassium low, co2 low, chloride low, Protein low, albumin low, basically it was all off but the potassium seemed to remain our issue throughout the next few days. It was 2.2 in the Shands ER but by Friday, after a day of IV fluids D10 and potassium boluses, he went to 2.6 and finally got up to 4.1. What is strange is that he went NPO and all diarrhea stopped but Saturday he drifted down to 3.0 again getting full fluids..and sodium went down too.. curious for sure. One I had never noticed before was his CRP level. It was elevated at a 52.8.. and I guess this is a marker for inflammation or infection in the muscles, but can be an important marker for cardiac concerns apparently but Sam seemed fine in that area. I think it was a sign he was inflammed in the gut and fighting gastroenteritus. At least that is what the Shands team decided. They think it was Rotovirus.. but I just read there is a Shigella gastroenteritus going around our county right now.. so who knows? They are convinced there was no connection to the stimmulator other than that he probably caught it while here for the surgery. They actually think the stimulator may have helped him not crash worse since we were at least able to keep feeds running on those few days at home. Within a day or so of being admitted to the 45 unit, Sam began doing much better, going from limp noodle to making eye contact and being more "with it". I am relieved we got help when we did.

The next day I decided to get something to eat since I am nursing/ pumping for Max and it had been almost 24 hours since I had eaten anything. The nurse was fine with me running downstairs to get something, but when I returned I found out Sam had pulled out his gastric stimulator... ugh. I don't think she realized I was thinking she would sit with him. I should have been more clear. They called his surgeon who came up and said he might still be able to fit him into the OR to replace it. What suprised me was him personally walking Sammy's crib down to the OR to get things expedited before the end of the day. They then tried to get it replaced and found his stomach was far too distended to screw the probes into the stomach lining properly. His surgeon is particularly good at explaining what is happening and why he does what he does. He said that when it wasn't working this time and taking too long, he decided to put back in a GJ and get out as the air they were putting in as part of the procedure was further distending him to the max. He said the probes kept going down to the pylorus and it would be best to only set these when it could be done right.

Watching Diego cartoons in recovery was about the only thing that helped soothe him.

Sam came out of the OR with a basketball for a belly but he actually was in less discomfort than last week's procedure. He calmed with time and finally got some rest last night. It is just exhausting trying to keep him from yanking on things or slamming his body into the crib from pain. We lost his IV that night and had to start pedialyte feeds through his J because no other access could be regained. This worries me as I am not sure what we will do about his horrible veins for the future. I know we should consider a balloon medicine port for emergency access and fluids. I hate to add another site available for infection, even if it is under the skin. This may be a decision better made now though than having to get (OI) in-bone line access during emergency.

As far as the stimulator, we plan to get it replaced when the tummy is not so badly distended. I did find out some interesting facts on this trip about our surgeon and the stimulator. First of all, our Dr. has put in 50 of these stimulators, and we may be the youngest, as most have been teenagers. There have been a total of three kids with mitochondrial disease, Sam and Nate being two of these. I also just read an article that he placed one in the diaphragm of a 3 year old girl with Pompe Disease as well.

She was the first child with Pompe Disease in the world to receive diaphragm pacing. I learned about this other metabolic disease, Pompe Disease, when researching stuff for Sammy two years ago. I saw a great movie with Brendan Frasor and Harrison Ford called Extraordinary Measures about a family with this disease. There were many parallels between this neuromuscular disease and Mito, especially how devastating they can be systematically. Anyways, this stimulator for her is being used to keep her off a ventilator for a large portion of her day. Amazing to have a surgeon breaking new ground and willing to explore new frontiers in medicine that could drastically impact quality of life for children! So thankful we have him working to help our boy!

We knew Sammy was improving when he began making eye contact, sitting up and playing with his cars. We watched RIO about 50 times over the weekend and then he wanted to get down to dance and promptly fell over.. this meant an extra bracelet to annoy him on his read: Fall Risk. Eventually he tried walking and soon was getting his sea legs back in order. Our friend Amber came by and walked the unit with him while I got some dinner. She has really been such a kind friend to us and we are so glad to know her and their sweet family. Trucking around the unit, Sam made several new friends and got alot of attention off his "go to town" hat. Of couse that sweet smile never hurts in winning over new friends.

We will have to work on toys like these in PT as Sam was frustrated that he could not move his feet on the ground to make the car go.. as he put it "GO.. CAR.. VOOM!!"

I am praying today for Sam to grow stronger each day. Praying about the financial stress we face with a medically complex kiddo. I am praying for all the families of the children on the 45 unit floor and hoping they get home soon to their families. I wish other moms and dads would tour hospitals like these and meet the amazing kids fighting harder battles than most adults have ever experienced. I think people take their lives for granted. They don't fathom how precious it is to be healthy. I pray for safe travels for many friends who are on family vacations. I am thankful for all the kind hands that have helped Sam this week and for the help of my mom and my in-laws who supported Jason with the kids at home. I don't know what we would do without them! I want to post a link to a radiothon fundraiser our friends are doing for Shands through the Children's Miracle Network. Nate is an ambassador and they could use any and all support. To help click on this link.

On a final note.. Sam is doing good at home today, but of course we got home and the girls are now running low grade temps with tummy trouble, so we apparently left a little good bye gift behind for them with love from Sammy. They are staying with Nana and soaking up her nursing care in hopes we avoid Sam having a reexposure to this bad bug. Decisions ahead include: when to go back for replacement of stimulator, when to reschedule his appointments that are all messed up by this unexpected hospitalization, and whether to go to Houston for full mito workup by their organized clinical team..

I will have to do a blog post on the girls and all the summer activities, more on Max, who is growing like a weed and is soo big that it feels like my 6 month old and my 2 and a half year old are twins. They are only about 5 lbs apart and wear the same size diaper now. I will update as well on what is new in Mito news.

New Frontiers Part 2

On Friday, July 27th, with hopes of recapturing precious gastric emptying, comfort and motility, we had a temporary gastric stimulator placed by endoscopy at Shands in Gainesville, FL. I believe he is now the youngest child to ever have one placed, although it now seems we may be doing this a few times before we get the permanent one. Sam actually did well through the procedure, only mild desats into the 80s in recovery and over the next 2 days.. not too bad for him. This type of medtronic stimulator is meant to help with gastric dysmotility or gastric pareisis symptoms, usually those of adults with diabetes. It is not made to be used on kids, but we had heard about it from our friend, Nathan, who had one experimentally placed last year and has experienced remarkable success. It was a long, arduous process to decide if it was working in the beginning for Nate, as all mito kids take steps back with illness and taxing procedures. But once they had a stretch of no illness and could see him at home after recovering from OR procedures, they made the choice to proceed with a permanent placement. Nate still has slowing during illness periods but he eats quite a bit by mouth and only needs g pump feeds at night or to add nutritional support since malabsorbtion is an issue for kids like Nate and Sam.

Unlike Nate, Sam had already been forced to go to a J tube (tube into the intestines directly) over a year and a half ago when he just could not handle bolus feeds (large typical meal sizes) of formula in his tummy. Since then, we have experienced increasing issues with Sam's GJ feeds during illness but also when he was well. One of our biggest issues has been a result of success on the oral feeding therapy front. He has been working up to eating more orally from a dysphagia/ airway standpoint and is now frustrated by how little volume he can tolerate in his stomach. It is strange to shift from having a child who can not eat even a drop of water without turning blue as a newborn to finally being able to not only eat but drink from a cup. Yet it makes you upset to watch him grow so tired or in such pain from the act of eating, that he be unable to progress to eating real meals by mouth. All of his feeds are given by J (into the intestines directly) since he failed his gastric emptying testing but we do still put pedialyte and meds in his G (stomach port) and he trys small foods and small drinks by mouth now. So in hearing about this opportunity, we felt like taking a leap of faith and attempting something that could improve quality of life for Samuel. I think one of the main other reasons for us is our fear that if his gut continues on this course with no improvement, we could be looking at his requiring a central line or broviac port directly to the heart for TPN feeds which is incredibly caustic on the liver and body, as well as a huge risk for infection. Our surgeon is the one who placed Sam's original G tube and did his nissan fundoplication (stomach wrapped around the esophagus) at 2 months of age. Here is Sam's new stimulator as it was placed temporarily until we can decide to place it permanently entirely inside the abdomen.

The procedure for the temporary stimulator required intubation with endoscopy and mild intervention in relation to the permanent placement. With the temporary, the box is left on the outside and the leads of the probe are threaded through the stoma and screwed into the stomach lining.

That first night was pretty miserable for Sam with retracting, dropping sats and generally not tolerating feeds. We tried to make him comfortable on Tylenol but by morning we were having to give him some morphine to control how badly he was throwing himself about in pain. We figured this may have been the belly pain and cramping associated with the surgery or the raw throat from intubation, but it was a rather small procedure to be making him that upset.. and we soon realized the next morning what was really contributing to his extreme pain.

At shift change, Samuel was found to have a badly infiltrated IV. They were running potassium directly into his tissues..which is very painful. His hand and all the way up to the elbow were incredibly swollen with fluid. His hand was entirely white with darkish fingernail tips, cut off from the arm's blood supply by swelling and medical tape at the wrist. The photos don't give it justice and most were taken after we began treatment measures. We have had infiltration before but nothing like this. They called in a ton of people stat to evaluate it and slowly we got some capillary refill to his hand. The palm remained white though and they ordered 12 injections of Hydase into the hand. Hydase is made from sheep's testacles, apparently, and it spreads and thins out the infiltrate in the tissues. Amazing how many weird anitidotes we have for every possible pitfall in medicine! Of course in his many many hospitalizations, we have had many blown and infiltrated IVs, but nothing like this. It is hard to tell in these pictures the degree of acuteness, but I was concerned we could actually lose his hand.

After all this, he began to improve and the swelling went down but he was not moving it. They told me they could not be certain he would not have nerve damage or infection. A week later, it looks great, works fine and I think overall, it was a near-miss! Thank goodness for that Hydase and the shift changing nurse who caught it. I don't think the nurse responsible intentionally missed this, but I was less than happy with how she came back in later trying to make excuses... better to just apologize. We realize there are risks to every intervention and hopefully, our nurses always take these IVs seriously.

Sammy had some fun with the nurses blowing bubbles and we were blessed with a visit from Nate's mom, Amber.

By the next day Sam was tolerating more feedings and by that evening was trying food by mouth. He continued to have some junky breathing and retracting but he became more like his old self. He was asking to eat and seemed to have a real appetite. He also had more BMs than usual. I felt the stimulator must be working. Before we left he went from managing pedialyte, to normal pump feeds, crackers, mashed potatoes, oatmeal, eggs, water and milk.

Sam had many caring nurses over his stay in the 44 unit. It had been quite some time since we were here last and I am glad to have this hospital as an option for more involved support than we currently have in our area. I hate the distance we have to go for specialized medical care. Which is another topic that I discussed with Nate's mom: the decision about going out to Houston for more intensive, organized mitochondrial disease clinical care. They have a clinic there that meets several times a month for Mito kiddos where you organize all your appts for one week every 3 to 6 months and they call the shots on how your local pcp manages your individual needs. Sam could see specialties we dont have here such as immunology, endocrinology, pulmonology etc.. I realize I am really just frustrated by our lack of a cohesive team. Sam said "Bye Bye!" to his newfound girlfriend nurses and we drove home that Sunday with a plan to return after a month's trial on the stimulator... or so we thought.

Saturday, August 4, 2012

New Frontiers part 1

This week Sam and I returned to my old Florida Gator stomping ground for a consult with Sam's surgeon about concerns relating to Sam's GJ tube and the state of his gastric function. We were graciously invited to stay the night before the appt. with a family we met along this mito journey. Their son is only 2 years older and has the same diagnosis as Sammy. Although every child presents differently with this cellular neuromuscular disease, Nate and Sam seem to have much in common. There have been moments listening to their symptoms or history that I can hardly believe the simalarities but even stranger is to know we have shared quite a few Drs over our journey. They were diagnosed by the same Dr., out of state, and shared pediatric specialists and this particular pediatric surgeon. Strange, Eh?

We left home at noon last Wednesday right after I gave Sam his mid-day medications. He slept most of the way with little issue, but around 5 pm when I was almost to Gainesville, we stopped and I vented his stomach with the catheter. It was no shocker that all of his meds came back out of the stomach, despite it being over 5 hours since they were given to him. This is precisely how we struggle with Sam's gut function, not to mention the pain and effects on his weight gain. We have been seeing a GI that we love in Atlanta, but I could not help feeling like we needed more ideas in the mix, not to mention his current tube was the wrong size, breaking down and leaking. It needed to be changed out and the tissues around the stoma needed to be examined as there had been some question that it might be migrating gastric tissue and not just granulation tissue.. something we routinely tackle with caring for a G tube site. Where have the days gone when dealing with a scrub on the girls' knees seemed significant.

We arrived in time to enjoy a dinner with my friend and first employer, Lynda. She took us to dinner in this great neighborhood steak and fish restaurant. Sam was actually in great spirits and other than doing typical 2 year old behavior at the restaurant (cue visual of Sam throwing crayons on floor and loudly saying "Hi" to passerbys), it was alot of fun to catch up with her. We then headed over to our fellow mito mom's home for the night. I can't possibly communicate adequately how much it meant to be welcomed into their home when we hardly knew anything of each other. Their kindness was incredible and I feel far less alone on this journey having met this sweet mom, Amber.

The kids quickly became acquainted and Sam really enjoyed playing with them. He was quiet and was definitly out of his element but it was such a normal setting of play for him, with noone hovering too close. There was something incredible about watching Sam interact with another little boy and for him to witness that someone else has similar medical needs. I really enjoyed catching up with his mom on all that they have learned throughout their Mito roller coaster ride. She had insight into various medical clinics and physicians in other cities as well as alternatives and trial and error discoveries we had yet to encounter.

We made this trip in hopes to also open a conversation with this surgeon about a enterra therapy he is doing on kids, that is incredibly rare and not offered in other health settings. Sam suffers from delayed gastric emptying and slow motility in general. Since learning to eat, he displays hunger and excitement for food, only to find himself saited really early, refluxing food from his vented tube, writhing in pain and unable to move past a small portion size of anything. This is increasingly hard for him as he has made such strides with oral eating. He experiences pain, bloating and constipation. All of this is frustrating after he worked so hard to develop safe swallowing skills.

Furthermore, Sam has the preference to slip into gut shutdown during illness. When severe shutdown happens, even bypassing stomach with GJ tube to the intestines is not the best option but was a bandaid. We then still had to get admitted at times when Sam has had to have a central line in getting over the hump. My greatest fear is that our inability to use his gut leads to needing central lines or a broviac, ports to pump TPN through to his heart for his only nutrition. This can carry risk of line infections that can be fatal. For the last year and a half we went to a GJ tube for all feeding and although he had tremendous improvement on so many levels with this measure, we still dont get to advance oral feeding like we would like.. so we hoped to learn of other options.

At our appt this Dr talked to us about another option. We discussed placing a temporary neurostimulator or gastric pacemaker to stimulate normal peristalsis or motility. The best part to this option is there were few drawbacks and we would get a few weeks to figure out if a permanent one would be worthwhile. In this procedure, probes would be screwed into his stomach lining and threaded out the stoma to a box taped to his abdomen. Sam's friend Nate was the youngest in the US to have one and we share that same Dr. I felt convinced that this was an opportunity to try something positive to preserve more gut function and open new doors for Sammy. What a thought to imagine we might get to where we could eat by mouth by day and only need pump feeds at night. We agreed to the procedure and he was admitted on Thursday for the Friday surgery, which should be outpatient but since Sammy is unpredictable and complicated, they figured on watching him more closely. This was a first step in a new frontier for us. More on this in the next post...

This was my brave Sammy on his way down to the OR..