Wednesday, January 11, 2012

Houston: day one


When talking to a friend last week, I mentioned that one of the hardest parts of coming to Houston was that they seemed to always find something with Nathan that we were pretty oblivious to beforehand. That is both difficult and rewarding. Difficult in that sometimes ignorance is bliss. But rewarding in that some of the times, there is something we can do to help correct or lighten the problem and hopefully improve Nate's life even more. This trip has proven to be no exception to that thinking.

Our team at Shands is wonderful. They are amazing people who love Nate and take incredible care of him. But, they don't understand mito well. That is no fault to them. Understanding comes largely from experience, and they simply lack the patient load with this disease to give them more experience. That is why we continue to trek the long miles west to Houston every few months to see the doctors in the mito clinic. Due to the fact that they see an abundance of patients with mito day in and day out, they are very familiar with the strange aspects of this disease and how better to treat it. In addition, they have the ability to conduct ground-breaking research that is helping others understand the unique aspects of mito. It is simply an incredible place to bring Nate, and we feel very blessed to have had the opportunity and ability for him to be a patient in these clinics for the past 2-1/2 years.

Nathan saw a new cardiologist here on Monday. He has been followed by cardiology at home and had regular ekgs and echos done that always have shown trivial abnormalities but nothing to cause concern from our home cardiologist. However, when talking about Nate's symptoms and his unexplained need for oxygen, our new cardio in Houston had an idea of what may be causing his respiratory distress symptoms when off O2. He performed an echo looking specifically for a PFO (a form of an ASD), and that is exactly what he found.

PFO (Patent Foramen Ovale) is a hole between the left and right atria of the heart. This is a natural hole that everyone has while in the womb, but it usually closes up shortly after birth. In about 1 in 4 people, this hole does not close. In most cases, the hole causes no problems or symptoms whatsoever. However, there is a risk that unoxygenated blood from the right atrium could shunt into the oxygenated blood of the left atrium and then circulate into the body. It has recently been found that this stress on the body of patients with mito can be quite dramatic. Their bodies have a hard time dealing with the normal stresses of life, and the additional impact of this type of ASD can cause symptoms in them that are not often seen in the normal population of people with this type of heart defect.

So, we will be coming back to Houston the first week of April where Nate will be put under anesthesia and his new cardiologist will perform a bubble test to determine is there is any right to left shunting happening through Nate's ASD. If that is the case, he will go ahead and close the defect then through a femoral catheterization. If he does have the shunting, this could be the explanation of why his work of breathing is so much harder when he doesn't have oxygen supplementation. This could be the answer to the question we have asked for 4 years. If there is no right to left shunting, we are back to square one on trying to figure out his breathing abnormalities.

But this is exciting knowing that there is potentially something we can do to help him. We want so badly for Nate to come off the oxygen for at least a good chunk of time during the day. If the ASD repair is warranted, we could potentially start weaning him down from O2 in 6 months. The cardiologist said that he was making no promises that this would fix Nate's oxygen requirement, but it might help. And, closing it could most definitely prevent the increased risk of strokes associated with this type of defect. Although it is always hard to know that the little guy needs more procedures, it is exciting that this is something that could make his life so much better.

And to further the info from this visit, our cardiologist diagnosed Nate with moderate dysautonomia. It has been no surprise to us that the little man has autonomic dysfunction, as doctors have mentioned it a few times over the past couple of years. The autonomic nervous system controls your involuntary actions...heart rate, respiratory rate, digestion, perspiration, salivation, etc. Dysautonomia is a malfunction of the autonomic nervous system. Symptoms can be quite varied and can range from extremely mild to debilitating. Nate has always dealt with several of the symptoms associated with dysautonomia, which is caused primarily by his mitochondrial disease, but we have never done anything to lessen his symptoms.

This doctor said that Nate's autonomic symptoms definitely warrant treatment at this time, not only to help curtail a lot of the unpleasant effects of this condition, but also to hopefully keep them from progressing to a higher severity. He started him on florinef to increase the blood volume by increasing the amount of sodium in the blood. It can potentially cause some hefty side effects, so we are going to watch him closely and get labs done in a few weeks to make sure his body is responding well to this new regiment.

So, a lot to process that first day. We were in the cardiology clinic for 4 hours on Monday, and we were both physically and mentally exhausted that afternoon. It was pretty cool though to see the effects of Nate's gastric stimulator on his EKG...every 4 seconds, there would be quite a few really quick electrical pulses on the paper from his stimulator. Anyway, we will be back in 3 months for the bubble test and potential ASD closure.

Updates on the following 2 days of appts will come later...and pictures of Nate and a few of his little mito friends from this trip. We've been fortunate to have appts on the same days as some of our friends. Such a fun time hanging out together!

2 comments:

Clara-Leigh on January 11, 2012 at 10:41 PM said...

Wow, Amber, what a find!!!!!! Garrett had a Patent Ductis Arterosis that was found via echo and then closed via heart cath there in Houston by a fabulous cardiologist. We were only "in the hospital" a total of 4 hours or so, then drove back to Baton Rouge, home at the time. So glad there is something that might explain some things AND something that might be able to be done to help. I am in awe of the gastric stim and how much improvement you are seeing. WOW!!!! Praying for your safety and peace and that the next days of appointments bring GREAT news!!!! Clara-Leigh

Owl of the Desert on January 12, 2012 at 4:20 PM said...

So glad the doctors have found this additional piece of information. What a blessing to be surrounded by such caring, attentive professionals. Will be praying for the rest of your trip, as well as the upcoming return visit. Much love to you and the whole family.

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