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.


Anonymous said...

Sweet boy and sweet mom. My prayers are with Nathan and your family. You are an amazing mom!


Kyla on July 10, 2013 at 11:03 PM said...

Oh, Amber! What a lot of digest. I hope that whatever Nate needs after all the testing is said and done will be easy to get approved and will help him a lot. That first video of him trying to breathe just broke my heart! I can't imagine how you all must feel watching him struggle so. Big hugs!

Kyla on July 10, 2013 at 11:04 PM said...

*to (not "of")

Anonymous said...

Dearest Amber, many prayers are being offered and many tears are being shed for you and your family and for little Nathan, just like I did when he was a tiny baby and his immediate future was so uncertain. I can only imagine the anxiety you are experiencing right now. I know that our God is able, and I pray that He will reveal some positive solutions for Nate's condition. I hurt for you and Jay, for Abby and for Emma, and for Nathan. My sincerest prayers are with you all.
Much love,
A. Geraldine

Wanda on July 11, 2013 at 5:40 AM said...

Your family is in our prayers!

Tracie Kurtz on July 11, 2013 at 9:18 AM said...

Oh dear friend...You never cease to amaze me! Your honesty in regard's to Nate's health and your proactive work in making people aware of mitochondrial disease is applaudable. I pray God be with Nate and all of you as you continue on this journey. I cannot even fathom the depths of emotions you must be feeling, but I trust that our Heavenly Father can and that he has all of you in the palm of His hand. Love you and praying for you, Nate, and your family! Nurse Tracie

marie clare on July 11, 2013 at 11:23 AM said...

Praying for insurance approvals and Drs wisdom to help your sweet "big" boy.

Amanda on July 11, 2013 at 3:15 PM said...

It sounds like much of what you already were thinking came to open discussion about respiratory concerns and such on this trip. Hopefully the good that comes from that is more hope and fuel to continue the proactive approach you always take with each hurdle. I love you all so much! You know we feel the weight of these worries with you and send them on to God in our prayers always. Sammy asked me to send his "Big" buddy Nate a soldier's salute (his new fav maneuver)for Nate's continued bravery. Soldier on , dear Amber.. sending e-hugs till we can catch up in person.

Now It's Forever Photography on July 12, 2013 at 8:23 AM said...

Dear Amber,
Lori and I lost our little 8 year old David in October. We met you Sunday at Oak Hill. I saw him on O2 and came over and talked to Nathan. He is such a sweet little boy. You chided him for touching my suit coat but I assured you it was OK....he is just curious. :)
After meeting him I had to go outside and be alone...the memories are still raw with what we went through with our son. I admire you for your fortitude and your honesty. It took awhile for me to be honest with how I felt but I found that when I became honest and told people I was having a rotten day, I was sad, I was struggling with being angry at God...when I wrote about it God reached down and sent help from unlikely places. Reading your blog is extrememly painful to me because I know exactly what you are going through. Our son had a long protracted history in the hospitals with heart and breathing problems.
I will tell you that we recieved much comfort from knowing the passage of Ecclesiates 3. To everything there is a season...God is, has been and always will be in total control of your son. Nothing will happen to him that hasnt been planned from the beginning. Nathan is in Gods hands to do as He wills to be done.
I KNOW you love your little boy. Never let him think otherwise and cherish every moment you have with him. It is Gods gift to you.

Love and Prayers,
Mike Croft

Anonymous said...

Amber - my heart breaks for you. I am literally sitting here crying and not being able to fathom what you and your family are going through. If anything, Nate knows how much he is loved by everyone and his God. HUGS...

Love, Linda C.

Jen on July 29, 2013 at 8:58 PM said...

Amber, I always find so much wisdom in your words. Your love of God and for your family shine through and remind me that my place is where God has led me and keeps me. I will pray for you and Nathan and your family. You are an amazing mom, with amazing strength. Hugs to you during this difficult time.

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