Friday, November 18, 2011

Leigh Disease (Hospital stay day 7, ICU day 4)

After another crazy day yesterday and a second intubation, the night was pretty quiet. We met with a resident Surgeon this morning to discuss the Port surgery. Since the main reason we are in the ICU this time is because Jagger got over work, over upset when they could not get an IV going on Monday, and since unfortunately he will more than likely need quite a few more IV in his life, we decided to have a port implanted in his body. In a nutshell, is a device that is surgically place under his skin at the left front shoulder level that has a tube that goes directly into the heart. So we can deliver medication, hydration and get blood with only minimal "poking". You have to use a special needle that goes into a spongy reservoir right under his skin and if you use numbing cream he should barely feel the poke. Once the needle is in, it can stay for a week, so you technically only need to poke him once a week. The only drawback is that if we don't use it for a month we still have to access it and flush at least once a month so he does not develop a blot cloth.
The resident did not know much about the procedure, which made us a little worry but we made sure he was not the one doing the surgery. We also talked with the anesthesiologist as it is very tricky to use sedation on a Mito kid.
We were able to take Jagger all the way down to the surgery floor and give him a kiss before the surgery.
He was back in the room a few hours later and everything went well. They did not even used stitches and used some kind of special glue that should minimize the scar.
At 3pm, we had our meeting with the whole team, Dr. Ka (ICU attending), Dr. S (GI), Dr. K (Neuro), M. (Genetic Nurse) and a social worker were there.
The short term plan is to take Jagger off the ventilator tomorrow, to make sure all the anesthesia drugs are out of his body. He will also get another blood transfusion before then to give him extra strength. His Hemoglobin was back up to 9, but that is still a little low.
We then discussed about the Mitochondrial findings and some of the drugs we could use to try to minimize the symptoms, we have a few options mostly to reduce his movement disorder and to see if we can somehow get his cells to produce more energy. Of course, none of those drugs have been proven to work very well, but there is very little side effect, so the drugs might help him.

We also discussed his nutrition, we need to get him to eat more calories and take more volume in, but his gastric delay emptying make it very difficult. So we will have him on TPN for a few days, it is IV nutrition but you don't want to stay on it too long as it can damage the liver.
After everyone left, M. stayed a little longer and drop a bombshell on us, she said after reviewing the latest MRI and his tests results, Jagger has Leigh or Leigh like disease. It is the not only the rarer of Mitochondrial disease but also the most complex and least understood by anyone. And it has the shortest life expectancy.
She also tell us what we should look for in the future and how the closest most promising research is at least 7 to 10 years away from a potential cure (and that is being optimistic). She wants us to start seeing a pulmnologist as most kids with Leigh have respiratory problems as the disease progress.
Unfortunately, Jagger also has a very severe form of the disease, and while it is impossible to know how fast it will progress, the progression is however unstoppable.

M also discussed the next step in testing, they will run next generation DNA sequencing on his blood and tissue, he will be one of the first one in the country to have that done. It should give us more details on the exact gene mutation that is causing the disease and should also tell us % of chance it will happen again if we ever decide to have another child.

So here we are now reflecting at another insane day, a week ago, we took our little boy to the ER for some blood in his stomach, and now he went to respiratory failure twice and we just found out his has a fatal, terminal, fast progressing disease, sometimes life just sucks!!

On a lighter note (well maybe not), I almost set the hospital on fire tonight! Annett went to the sleep room and her back was hurting, so I went to the family room and warmed up a heating pad in the microwave (as I did last night). After a few seconds I smell burn, and looked at the microwave, there is smoke coming out of it, so I stop it and open it, so not there is smoke all over the family room, I was just waiting for the smoke alert to come one, I started waiving my sweater to disperse the smoke. I also unplugged the microwave but smoke was still coming out, so Annett called engineering. They came ovfer and took teh micorwave down to their shop just in case he kept smoking.
About 30 minutes later, engineering came back to see me and told me he was sorry but could not save the heating pad! LOL, it was all charred and burnt.

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