Friday, October 26, 2012

Houston: Fall 2012

Nate and I just returned from our bi-yearly trip to Houston, TX to see the docs in our mito clinic. This was our 7th trip there since Nathan's diagnosis, and it has most definitely become a home away from home.

Its amazing to remember the first few trips we made there and see how much the little guy has grown since then. Now, Nate really looks forward to these trips since he gets to see some of his best friends when he gets who are just like him, who have most of the same attachments, understand the language of medical "stuff", and truly feel the same apprehension, fear and pain for some of the same routine tests they all have to do on a regular basis.
These trips are always made so much easier by the people we get to see while we are in Texas. Nate had a blast playing with his friends, and I enjoyed catching up with my friends and meeting some new ones as well. Alex kept calling Nate his "younger brother"...those two were pretty inseparable all week. Thanks to our dear friends with Dance Marathon at UF, Nate and Alex got a phone call from a very cool Disney character when we were soon as the large video file uploads, I am going to share it.
The degree and amount of research the docs associated with the mito clinic are doing is simply incredible and exciting for the future of knowledge and treatment of these disorders. I am constantly in awe of the dedication these doctors have of trying to understand the "whys" to the complexities of this disease.
Anyway, Nate had a sleep study on Saturday night. This would be his 4th sleep study, and he is most definitely a pro at getting hooked up and ready for this test. He still hates to have 2 cannulas in his nose at the same time and the end tidal probe attached to one, but I really don't blame him on that one. That has to be terribly uncomfortable. We should get the results within another week or two, but I honestly don't expect any big changes.
Monday, we saw Cardiology, Pulmonology and GI. It was a very long day at the med center! His cardiologist is planning on increasing his dysautonomia med (florinef) in the spring to help combat with the hot, humid summers we have here. And he said that he really needs a significant increase in his fluid intake. Florinef works by increasing the blood volume and blood pressure to lessen the effects of autonomic dysfunction. In order for it to work optimally, the patient must have adequate fluid intake, and we have recently realized that Nathan does not take in enough fluids.
Pulmonology was good. She said we gave Nate a good run at trialing him off O2 for small prolonged times this summer, and it is clearly obvious that he does indeed still need oxygen supplementation. She thinks that his heart rate rising quite a bit when he is off O2 may be another reason why his lactic acid rises off O2. When asking about why he sometimes does okay and sometimes doesn't after he has been without oxygen supplementation for a longish period, his mitochondrial doctor said that it seems to depend on his ph. She said that we know his lactic acid rises when he is off O2...sometimes he compensates perfectly by making his ph alkalotic respiratory-wise to combat against the metabolic acidosis. But for whatever reason, his ph was significantly lower last time he had a blood gas. Lower than we have ever seen it, along with other labs that were more off than they usually are. She said what is happening now is that his lactic acid rises, and once his ph gets acidotic as well, he starts vomiting to help bring the ph back to a normal range. Its amazing how the body compensates. The key to helping him out of these episodes is fluid, fluid, fluid.
Anyway, GI appt was great. He was so interested in Nate's stimulator and progress since getting it placed. GI there doesn't have much to do with Nate's care, but his mito doc wanted us to continue to follow up with them periodically when we saw her last time.
Our appt with our head mito doc was great. She wants him to have a referral to endocrinology to monitor the periodic low blood sugars he has, and he needs to see his ophthalmologist again since it has been 2 years since we have seen her. She gave her blessing for him to start school in the fall, and they are forming together a letter to help direct everyone in how to hopefully make his school experience successful from a medical front. We'll start his IEP process in a few months to help get everyone ready for him next year, as he will be the most medically complex kid they have ever had there.
Anyway, Dr. K also ordered the Whole Exome Sequencing test for Nate to try to pin down the genetics behind his disease. This is a newer test and is able to look at more genes than any other test. It is entirely possible that there is not just one gene involved in Nate's disease, but a few mutations that together form the metabolic insufficiency in his body that is creating his mitochondrial disease. I am really anxious to get these results...and really hoping insurance will cover it so we can get these results!
I explained to his mito doc that in the 4-1/2 years we have been working with our team at Shands, I am extremely confident in their ability and knowledge of how to take care of Nate now. They really do understand how this disease affects him and how to treat each organ in his body. They are really doing an amazing job of taking care of Nate. So explaining that to her, and in conjunction with how well he is doing right now, I was able to convince her to allow us to come back in a year instead of our regular 6 month plan. That being said, if insurance does indeed cover the Whole Exome Sequencing, we'll come back in April to get the results and see everyone else then as well.
Lastly, we had an appt with our beloved mito immunologist. I simply love this woman! Out of all of our numerous docs, she is right up there at the top of my favorites. She and I have always just clicked extremely well, and I love getting to catch up with her every few months about family life, travels, and what not. While I was excited about Nate's IgG being mighty close to 700, she wasn't quite so pleased that his labs haven't responded better to the SubQ. She said that she wants him to be much higher than that. We ran labs again, and if his IgG hasn't increased substantially, she wants to increase his Hizentra infusion dose. She also said that she is writing up the data on her mito kids with immune deficiency, so that is going to be a good addition to the research of this disease.
A full (and long) PFT test in the hospital rounded out our trip before heading home. He was one of the youngest to complete the test, and I was so proud of him. It required a lot of different breathing techniques, but he listened well and did awesome. It amazes me what all he goes through without batting an eyelash most of the time. It was a good trip...exhausting, to say the least, but good.

Wednesday, October 10, 2012

A mother's understanding

I could barely control the shaking in my arms from the muscle fatigue of helping hold down a strong little 2 year old guy who holds a special place in my heart. It was the team's second attempt at trying to get an arterial blood gas needed to determine how this sweet boy's breathing difficulties were affecting his body.

The needle snaked in and out of the corner of his wrist, searching diligently for the pulsing artery, as the exhausted little guy hoarsely cried "Owie! Owie!" and tried to wrangle out of what must have seemed like torture to him. It was heart wrenching to witness, as we tried so desperately to hold him down and keep him as still as possible.

It was during this time that his dear mother rested her head against her son's body and closed her eyes. From experience, I could tell that she was silently praying...begging God for mercy and grace on behalf of her son. It took everything in me to swallow back the ball of emotion building in my throat, for even though I did not hear this mother's prayer, I knew what she was saying.

Several painful memories flooded my mind of times when I was doing the exact thing...during my own son's arterial blood gases, numerous failures of trying to get an IV started, times when he was in so much pain that all he could do was shake uncontrollably. It was during these times that I would silently beg God..."Take this pain away from him. Direct their hands to find the right spot. Be with my son. Hold him close to you. Please let all of this be over soon."

There are times when you feel so helpless. As a mother, we are hard-wired to want to fix it when our children hurt. So having to stand by and watch your child endure intense pain that you can not immediately resolve is one of the hardest things we must do.

Keep Nate's little mito friend, Sammy, in your prayers. He's a precious soul who has touched my heart over and over again. While doing very well lately, he has had a recent set back and is in the hospital for a bit. His mom is one of the kindest and strongest people I know, and I am so happy to call her a friend.

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