Reese’s Story

Site created on February 9, 2007

And when great souls die, 
after a period peace blooms,
slowly and always
irregularly. Spaces fill
with a kind of 
soothing electric vibration.
Our senses, restored, never
to be the same, whisper to us.
They existed. They existed.
We can be. Be and be
better. For they existed. 
Maya Angelou

1/15/2020 update. I feel like the rest of this is important to read. The end of the story comes first though. Reese died 8/2/2019 in the most beautiful way. It was exactly as we never let ourselves hope for. I heard a strange noise in his room shortly after he woke up, went in to check on him and he had stopped breathing. It was swift, painless, and exactly what he knew we needed him to do. I truly believe it was the one way to say thank you for taking the BEST care of me for 13 1/2 years. We are now trying to adjust. Some things are much easier; others are much harder. I do not feel anything I did not expect, it is just not hypothetical anymore.  It's real and here.  I am not sure how long I will continue to write here. For now, it is a place to share my grief, in the hope that it helps someone else. Reese lived a full and beautiful life. The thank you notes we sent out after his death read "Although Reese never said a word, his voice was far reaching." No truer words were ever said. Thank you for visiting. 

I have given Reese's CB site out to many new people lately. I figured, so they don't have to weed through a whole bunch of old entries, I would post a quick (or maybe not so quick) entry about his story. If you knowit, you can come back the next time you get an update notification if you don't need to read it again :)

Reese was born after an easy pregnancy and beautiful birth. He arrived with bright brown eyes and dark hair which was the polar opposite of his blonde haired blue eyed brother. His dad told me not all that long ago that the first time Reese looked at him he told Scott something was wrong. Fast forward to 2.5 months of age when Reese had his first seizure. He looked like a deer in the headlights and I can tell you exactly where we were. We called our physician who referred us to neurology where we were scheduled for an appointment 2 months in the future. Reese had other ideas and within a week proceeded to have at least 5 generalized tonic clonic seizures while we were at Griffin's kindergarten round up which landed him in the
emergency room at the local hospital.

Reese's big seizures were stopped, but he kept having clusters of little jerky seizures. He was diagnosed with infantile spasms which, in the literature, are described
as a "catastrophic epileptic encephalopathy." Our beloved neurologist in St. Paul described what was happening in Reese's brain as "an orchestrawhere every instrument is playing a different song." The goal is to figure out why they are happening. All of Reese's testing came back as "variation of normal" or "abnormal of unknown significance." Genetic testing was inconclusive, nothing was telling us WHY this was all happening. It should be noted that once Reese's IS started, his development stopped. My mama heart knew that anything we would get
developmentally would be a gift.

When Reese was 12 months old, we started him on the ketogenic diet after 5 seizure medications had failed to control his seizures. I had been researching on Dr. Google andfound information on mitochondrial diseases. Our neurologist agreed to do a muscle biopsy, which was the standard for diagnosis at that time, but I truly think he thought it would not show anything. It did. Reese was shown to have deficiencies in what is called Complex IV in the electron transport chain of the mitochondria. Mitochondria are incredibly complex. So complex that, despite really smart people trying to explain them to me, I still barely understand how they work. Basically, mitochondria are the energy producers in our cells. They takeglucose and kind of magically turn that into ATP which all our cells use to function properly. At that time, Reese's disease was officially called "suspected mitochondrial disease, complex IV deficiency." We would not be able to officially call it mito until a genetic test showed it was that. The problem with that was that they couldn't find it.

We managed symptoms (seizures, GI issues primarily) as best as we could with our amazing team locally in St. Paul and Duluth, but when Reese was4 we made the decision to pull a mitochondrial specialist into the picture. I had met Dr. S shortly after Reese's diagnosis. He remembered me the next year after a 15 minute conversation the year before. I knew if we needed a mitochondrial epileptologist, he was our man. As if mitochondrial epileptologists are common :) We traveled to Seattle and established care with Dr. S and his team. At that time, we enrolled Reese in a medical trial that took his DNA and, as new genes were identified to affect mitochondrial functioning, that was examined for genetic mutations. We had several misses until the summer of 2012 when Reese was 6. Dr. S met with me when he was in Minneapolis for a conference and said they found Reese's mutation. He actually has 2 on the MTO1 gene which controls protein synthesis in the mitochondria. We were lucky to even get a first mito diagnosis because the gene that is affected has nothing to do with the electron transport chain (which was identified as deficient from his muscle biopsy). Reese has 2 mutations on the MTO1 gene, one from me and one from Scott and together they created his mitochondrial disease.

Mitochondrial diseases are incredibly varied. They are difficult to diagnose and there are no treatments or cures. The strategy for managing symptoms for our littlest is to keep seizures as controlled as we can, decrease external stress and keep him healthy. Even a mild illness can be the thing that causes his mitochondria to fail. We have been so fortunate to have an excellent medical team locally that trusts our judgement when Reese throws any number of things at us. He never does things the same way twice and always keeps us guessing.

Reese is currently on 5 different seizure meds which keep his seizures to a minimum each day. He is on a host of supplements (his "mito cocktail") which help his mitochondria
function the best they can and gets his feedings through a tube into his small intestine (g-j tube). As mitochondria don't function correctly, they throw off free radicals which cause cell death. Just as a car can'trun on fumes forever, a body can't run on decreased energy production forever. Reese's mitochondrial disease is progressive and we have seen changes that indicate he is much less capable of handling stress. Our Seattle doc told us, when Reese was 4, "If kids make it to 3 years of age, their chances of making it to 10 are greater." Reese, at the time of his official diagnosis, was only the second person identified with a mutation on that gene and he had 2 different mutations. He is writing his own story and we don't have any predictability for where it will go.

We have an excellent team of caregivers, doctors, and nurses that help us to function as normally as we can without having our life revolve around medical stuff any more than it has to. Reese loves to be at home, but does tolerate being out and about as long as he's moving. He has a great belly laugh that comes out of nowhere. Sometimes he likesto snuggle, other times not. He gives us his foot to say hello.

He has taught us so much, which is such a corny, stereotypical statement, but it's true. I would give anything to have a normal 10 year old running around with his friends, but to live with that wish is wasted energy for me. I don't go there very often. I have met some of the strongest women I know now that I have entered the world of "special needs mom." Women who have lost a child or children; women who advocate and educate; women who handle the daily struggles with so much grace. I can only hope that I am like them when I grow up.

If you made it through that, congratulations. Reese's story is not simple or short, but it is his. It is ours. I know that in the end, whenever that may be,Reese will have been well loved.

"I wanted a perfect ending.
Now I've learned, the hard way, that some poems don't rhyme, and some
stories don't have a clear beginning, middle, and end. Life is about not
knowing, having to change, taking the moment and making the best of it,
without knowing what's going to happen next. Delicious Ambiguity." 
Gilda Radner

Newest Update

Journal entry by Nena Johnson

I was going to post this as a status on my Facebook wall, but it got longer than I thought it would, so I am putting it here.

My friend Nicole
just posted on Facebook "Grief is not the opposite of positivity." Grief is not a negative emotion. Yes, grief is hard. It is hard to see grief, hard to feel grief and hard to communicate grief. It is ok to feel what you are feeling, whatever that is right now. Yes, reading all the positivity posts is fun, but it is ok if you don't feel positive right now.

This has been a hard week for me. I cried more days than I did not. We had some pretty significant changes at work. Several of my co-workers were put on administrative leave and all of the staff in our clinic got their hours cut. We are trying to do virtual visits (also known as Teletherapy visits) over the computer with very little preparation or training (simply because of the immediacy of the situation) and some days the technology doesn't even work let alone have to learn a totally new modality to do my job. This old dog doesn't learn new tricks easily so it has been a challenge. Because of my job at UMD and obligations in the afternoons that I didn't feel were good to change, I had to switch my schedule to work Fridays at the hospital. I am struggling with so much loss of control. My job was always such a constant.

I feel like, since August, I get my feet underneath me after a tough spell, then something else changes and I am thrown into this pit of sadness and grief that affects every part of my life. Yet, the expectation is that I just forge ahead and manage all the pieces I need to (I realize that is the pressure I put on myself, but it is hard to stop and take that time. Now that I am working less, I guess I will have the time to process and feel that) Uncertainty is not unfamiliar, but we had a little person who was constant. Reese prepared us for not ever knowing what was coming next, so we have been slightly prepared. This uncertainty is unpredictable and there is no constant. None.

I feel better today, but it is hard to feel positive when I know that next week, something else will change. I am waiting for the first person I know to get sick and for that fear to set in. I am tired of doing hard things. Even though, I KNOW that hard things are part of the story too. I am trying all the things people suggest to try to stay well and centered during all of this, but I am struggling to get there. I don't think that is bad to just feel what I feel, even if it is not positive. I know I will get to a better place eventually. Some days it is just getting up, showering, taking a few turns in Words with Friends and working on a puzzle and that's enough. I need to remind myself what I remind my friends, "Be gentle with yourself." I will try.

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