Sunday, July 14, 2013

A new day

I have always said that one of the hardest things about raising a child with mito is that we don't really know what this disease will do. We don't know what next week holds, much less 20 years from now. That is a realization that has been difficult at times, but more often than not, it has given us the opportunity to be hopeful.

Neither us nor any of Nate's doctors (and believe me, there are plenty of them between the two teams here and in Houston) are able to have any preconceived notions about how Nathan's life will unfold. He could grow up to have a family of his own some day, a life apart from our immediate family, a successful career, children of his own...or he may not. Nate's head mito doc wanted to make sure that we understood the seriousness of his presentation of this relentless disease...and we do. But additionally, we also understand that we do not have any way of truly hypothesizing about how or when this disease will take over more parts of my little boy's body.
However, we know that the one who created our precious son's body does know what may lie ahead for him and us, and we put all trust in Him. We continue to pray for wisdom and guidance for us and each one one of his doctors in knowing what medical interventions we need to implement in Nate's life and how we need to proceed in different realms. And until drastic medical complications occur, we will continue to raise our son like our daughters...trying to prepare each of our children in tackling the future as adults and making their own decisions. We are trying desperately to prepare each one of them in this life by increasing their spiritual thinking, academic knowledge, and social interactions. The last two are why we are all so happy to still be able to trial school with Nate...he really needs to be around kids his own age, and he is so excited to be able to go to school and make friends on his own. I seriously can not wait for this milestone happen for my little boy!!

Since getting home, I have had a good bit of communication with our pulmonologist at Shands, who we love greatly. Over the past 4 years, we have realized that our two different teams of doctors have some strengths and weaknesses in their care for Nate...our team in Houston has seen Nate several times for 4 years now and have a great understanding of how mitochondrial disease affects him. But they are limited to the 30 minutes each one of them see him every 6-9 months. Our team at Shands may not know as much about this disease, but they know Nate very well...they know him when he is sick and well, struggling and energetic, in the hospital/clinic setting and in normal life. So one team specializes in the effects of this disease and how it affects Nate...and the other specializes in Nate. They seem to work well together, but it is sometimes hard to be the middle man between the two teams of doctors.
That being said, our home docs have been amazing in all of this!! Our pulmonologist is contacting the doctors in Houston this week to hopefully be able to get what they want in testing during the cardiopulmonary exercise test so that Nate can have this test run at Shands and save us from having to travel to Houston again in a couple of months. Additionally, she is trialing him on an increased oxygen level to see if it may make any difference in his respiratory symptoms since I have expressed concern that I am not quite sure that it is time to move to the non-invasive ventilation route quite yet. With this change, I am keeping a log of symptoms to be able to dictate accurate symptoms one way or the other to help us and others decide what interventions may need to happen. I am so very thankful for both of our teams of doctors in this situation.

All of that aside, when I think of our recent trip to Houston, I immediately try to push our difficult and negative conversations aside, as the incredible positive and fun aspects rush to my brain. Nate and I did so many "fun" things during this trip and experienced many new experiences. It truly was such an amazing time with my son that I wish so badly Jay and the girls could have accompanied!! Not only did we do our usual of playing with our mito friends from Houston and Dallas, but we used the free weekend to visit San Antonio, Texas caverns, dear friends from my childhood, and a church outside of Austin that I visited numerous times as a teenager and hold the members near and dear to my heart. I have to admit that it was so much fun introducing Nate to so many friends and family from my life before he came around. I have missed each one of these individuals so much since seeing them 15 years ago...and seeing them recently, it makes me miss them 10 times more each day! My goodness, my heart yearns to be with them all!!

So when I think of our recent trip to Texas, my mind and heart seems to be confused with emotions. On one hand, this was by far the hardest trip emotionally we have taken in 4 years...but at the same time, it was the most rewarding with friends and love from so many. And that dichotomy in and of itself makes me realize how much our God was at work in this trip...he flooded our emotions with overwhelming love, support, and friendship during a time we experienced some of the toughest emotions we have had so far...

We will remain faithful to our God. He knows what the future holds for us...and in the mean time, we will happily serve Him today...and tomorrow...and the next day.

Wednesday, July 10, 2013

Brutally Honest

"I'm going to be brutally honest with you. We are all very concerned about Nate."

It was an appointment full of some of the most difficult conversations we have had so far in Nathan's life...full of words and information that I still trying to mull around in my brain and process. This appointment with his main mitochondrial disease doctor was just one of the 4 difficult appointments we had in Houston this past week.

We are extremely guilty of maximizing the positive and minimizing the negative when it comes to Nathan's health...maybe to a fault sometimes. If anyone ever asks me the quintessential question "How is Nate doing?", my answer will almost always be "He's doing well". Sometimes, that is an accurate assessment, but more often than not, there are several negative undertones regarding his health running through my mind when I answer that question. But for the most part, Nathan usually looks good on the outside, so it is rather easy to answer "he's doing well."

So it may be somewhat of a surprise to tell you that he isn't doing as well as I portray. Looks can sometimes be deceiving.

For about 7 months now, we have been a little concerned about some changes in Nate's health...particularly his respiratory symptoms. He has been exhibiting some very unusual breathing patterns and issues over the past several months that have had us perplexed and scratching our heads. We have been very accustomed to the little guy's strange breathing issues all his life, and even these new issues have concerned us a bit. After getting a few of these episodes on video so his doctors can see what we are seeing at times, our home pulmo asked us to send the videos to Houston to see if they had any input...

To describe what is happening with the little guy...there are times where he tries so hard to breathe, often throwing his head backwards to seemingly open up his airway, and breathing deeply through his nose and complaining that he can't breathe. Those episodes are tough to watch, as it is so apparent that he is trying everything he can to get a deep breath. This is a transient problem that happens when he is on or off oxygen, but usually when he is fatigued. We have tried medications, extra oxygen, making him rest or lay down...everything we can during these episodes to help him get a deep breath, and he still gets anxious about not being able to breathe deeply. This is what the doctors in Houston have diagnosed as "air hunger".

Recent videos of Nate's breathing can be found here and here.

The other respiratory aspect we are dealing with is that Nathan is retracting from every part of his chest often these days (intercostally, subcostally, neck, etc). Something that used to only happen when he had been off his oxygen for a good amount of time has change lately. If he is even walking around with his oxygen off some of the time (and periodically when it IS on), he is retracting...and when he is active, he is often retracting badly. It is sometimes painful to watch as he moves his body in every way he can to catch his breath sometimes. This type of struggling is often covered by his shirt, but we have become aware over the past few months that these struggles have increased a bit.

Even though we were on heightened alert in Nathan's health regarding the recent changes, I severely underestimated the reaction of his mitochondrial doctors..

2 of our doctors are pretty insistent that it is time that we start a new treatment called non-invasive open ventilation (NIOV) to help expand Nate's lungs. This is a new form of non-invasive ventilation, and it isn't usually used in pediatrics. At UT Physicians, they have gotten this treatment approved for 2 of their pediatric patients a bit older than Nate (with lung disease, not with mito), and it has worked well for them. Both our mito pulmonologist and head mito doc thought Nate would be a very good candidate for this treatment.

In order to help prove that Nate may need this equipment, his doctors are requesting cardiopulmonary exercise testing done on the little guy. This is strenuous test that will help show everyone whether his respiratory issues are metabolic (what they think), lung, cardiac, or neuromuscular related. The current theory is that his breathing issues are due to the fact that his threshold for anaerobic metabolism is extremely low.

Based off clinical symptoms, labs, and the biopsy, Nathan's mitochondrial doctor has always thought that he suffered from a mitochondrial depletion syndrome. She was somewhat interested to learn that he has a mutation on the SUCLG1 gene on his whole exome sequencing. This is a novel mutation that is known to cause mitochondral depletion syndrome. Nate only has one mutation on this gene, so she ordered a CMA to test for deletions on the other allele of this gene and is calling Baylor to check for more information on this gene (particularly, the proteins involved in controlling mitochondrial function).

His cardiology appointment in Houston gave some more info. His doctor was concerned about his blood pressure and heart rate when active. Nate also had an arrhythmia during the appointment...something we have recorded in the past, but only when his body was stressed. The hole in his heart was clearly evident in his echo, and we are continuing to keep a close eye on it to see if it may need closing in the future.

All in all, the appointment aspect of the past week has been emotionally taxing. It has truly been a very difficult few days full of tough conversations. That aspect has been harder than I can ever explain in words. But on the flip side of that, we had MANY positive encounters with friends and family and amazing memories that I hope to expound on at a later time. And his mito doc said that she still approved for my little man to start public school next month, which is what we are all so excited about!!

So as I lay here in a hotel room, I look at an empty bed to the left of me. My precious little boy...who is all boy and likes to shoot guns and pretend that he is Luigi in Mario Brothers and laughs when someone says "poop" and can make a pencil look like a sword slaying whatever villain he encounters and always reprimands me if I say "little" in regards to sweet baby boy wants to sleep right next to me every night that he can during these trips out west, and I savor those moments.

I love him. He's my baby boy.

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