about the good news train...

It's come to a stop (hopefully just temporary). I hate even saying that it has stopped. I feel like it makes me sound negative but it is what it is (I dislike that saying too...)

So why do I feel like this?

Little Man saw his geneticist on Friday for a health & physical (in preparation for Nov 30). While he was doing a physical exam he asked me "Did Little Man have a bottle prior to his bloodwork?" I told him around 1 hour prior to the bloodwork and he snacked on Cheerios all morning long. He asked about his bottle before that as well - to which I replied, approximately 3 hours. He then asked if Little Man was sick that day. I told him no. My curiosity was peaked at this point... I asked him if he received the results of Little Man's metabolics testing back. He said yes and that we would discuss it in a few minutes. He finished his exam.

Then we sat down to talk...

He proceeded to explain to me that Little Man's ketones were really high. The range of normal is 0-30 and Little Man was over 200 (I don't remember the exact figure because I was a bit shocked at the moment to see such a high number in comparison to a low range). He further explained that fasting or illness can cause elevated ketone levels.

Then he pointed out that Little Man's ammonia level was elevated. The normal range is 0-50 and Little Man was 60. The human body has a 6-point Urea Cycle. In one step, ammonia (toxic to the human body) is broken down in to urea. Dr. N said his levels are just barely high and if this was his only elevated level, he would consider it a transient result. He also stated that his level is not at a point where we should be concerned about toxicity.

Lastly, he pointed out that Little Man's CPK level was elevated. The normal range is 0-200 and Little Man was 267. Dr. N basically said that CPK is an enzyme that is released when a muscle is breaking down.

He is of the mind set that these labs are new pieces to Little Man's complex puzzle. He is concerned about cellular energy.

Do you remember what this object is?


For those of you that are unsure, it is a mitochondria. [side note: I vividly remember making a 3D diagram of one in middle school... I used Twizzler pulls, toothpaste and more!]

Dr. N is thinking that Little Man may very well have a MITOCHONDRIAL DISEASE.

What is that you may ask...

Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.

Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection. {source}

We've been given very specific orders to not let Little Man go longer than 4 hours without food during waking hours and no more than 6 during sleeping hours (since the body is at rest during that time). If he becomes sick, he needs to be seen by a physician. We cannot wait out an illness.

Dr. N repeated Little Man's lab work and added a urine specimen. A chunk of it, we will not have back in time for Nov 30 (even with calling it in stat because it has to go to Salt Lake City). If Little Man's levels come back the same, Dr. N will be adding a muscle biopsy to his workup for Nov 30.

And for now, that's where I will leave things... we're still trying to digest all of this... please keep my sweet boy in your prayers.