I Sing the Body Electric

Kenan is taking 4-6 breathes/minute and is holding his blood oxygen levels at 98%. The normal respiration rate for toddlers, 1-5 years in age, is 20-30. It is something to be awed by, his ability to adapt, compensate then function with extreme efficiency. What Kenan is performing on a physiological level makes him a BREATHING GENIUS, a SUPER STAR, a GOLD MEDAL OLYMPIAN. If you need something AMAZING to happen today, it is him.

Thanksgiving

Part I: I had a small rubber ball sitting in the palm of Kenan’s hand when a clonus jerk of the arm (involuntary retraction of muscle) caused him to throw it, a fair distance considering. For a split second the illusion in my heart of what he could and should be doing “ if only” was set free: MY BOY HAD JUST THOWN A BALL! It was a gift of effect wrapped in the sadness of cause and it was just for me.

Part II: Gratitude Tamsen style (stickers compliments of our local grocery). 

Part III: Leftovers

Kenan was at the Thanksgiving table but fell asleep before pie. Today is a different story. His plate includes cranberry sauce, turkey gravy and a pumpkin pie-whip cream slather. He was most motivated by the cranberry giving us alot of swallow. So proud of him. 

Part IV: The Wishbone and Sibling-hood

Tamsen ended up with the larger side and in her big sister way, tried to crack IT in half so she could share the winning piece with her brother. Not sure what her wish was but her continued display of devotion to Kenan granted one of mine.

The Armor: Preventing Morbidity

There are the symptoms of Krabbe and then there are the side effects of those symptoms. 

Babies are born with loose joints for good reason. It’s through the process of resistance gained by kicking, rolling, crawling, and weight bearing that allows their joints and bones to set. Kenan was a strong little boy but started loosing muscle tone around 6 months. He never made it to sitting up. Because of this there are skeletal (and internal organ) consequences: his hips never set and are migrating out of their sockets, his spine is starting to curve in the direction I typically hold him, his fingers are now hypermobile (double jointed) to name a few. These orthopedics are designed to help prevent and correct misalignments. From top clockwise: hip brace worn at night to set joints, knee stabilizers that help support his lower body when I hold him in a standing position, AFO’s for foot alignment and ankle strength when standing, resting hand splints to help relax the hand muscles as well as align the bones. Each of these is worn daily and some in tandem for various durations of time.

And the reason his orthopedics rock our world: a chance to hug.

An Introduction to Kenan’s Equipment Arsenal

Meet the Food Pump: Around the time of diagnosis, Kenan started having choking episodes while feeding. As these became more frequent we elected to give him a g-tube. It is a simple surgical procedure that allows formula and medications to bypass the mouth/esophagus and go directly into his stomach. The pump lets us to set both volume and rate of flow. He currently receives 4oz over the course of 2 hours 15 minutes 4x/day, what his body can tolerate. In most photos you see Kenan with an extension and syringe off of his belly. Kenan was given a Nissan Fundoplication (a plug on his stomach) to prevent acid reflux and aspiration that can lead to respiratory infections and/or pneumonia, another side effect of low muscle tone. Because of it, he can no longer burp and has to expel air through his tube instead. When his respiration is high (for him), between 8-12 shallow breaths/minute, this is a problem as air fills his belly requiring constant maintenance. When his respiration falls between 4-6 breathes/minute, his breathing is much deeper and there is less belly air to contend with. (For anyone concerned about his breathing, he maintains O2 levels of 95% during both phases of high and low respiration.)

The Vest: This is primarily a preventative measure. There are many side effects from lack of mobility, respiratory infections being one of them. The vest gets wrapped around his torso, is set to a designated pressure, frequency and duration, inflates with air and shakes, shakes, shakes, loosening the congestion that has settled in his lungs. He receives these treatments 3X/day for 15 minutes each and tolerates them well. The downside is he spends the rest of the day working at bringing everything loosened, up, a noticeable aggravation to him and constant maintenance for his caregivers. The benefits certainly out way the drawbacks but the door to quality of life issues get opened for me with this therapy.

The Suction Machine: Out of all of Kenan's equipment, this is the most depressing and poorly designed machine, especially when you are in a state of urgency, yet crucial to his well being; without it he would have choked to death 100 times over. A year ago, it spent most of the time sitting in the corner. Today, when awake, approximately every 3 minutes, Kenan needs assistance either bringing the buildup of saliva and mucus out or holding his mouth closed to help him facilitate a swallow. To keep everything as thin and manageable as possible, we keep him well hydrated with 2 oz of water between his feeds and 5oz of Pedialyte through his pump over the course of the night. The Vest and saline treatments through a nebulizer play a role in keeping everything moving, but point black, we take for granted what it means to have a body in motion.

Both My Children

Both my children went to the poles on November 6th. Tamsen physically: I was impressed with her level of understanding, touched by her disappointment in neither candidate actually being there and grateful she caught one on my ballot that I had skipped. Kenan’s impact was more outreaching: I was humbled by the number of individuals considering which presidential candidate best represents him and our family, both in healthcare reform and medical research. It is profound to experience Kenan's life having influence on the very personal and sacred act of voting, that his voice was the momentum that pushed the pen to complete the arrow constituting choice. It all started by simply not wanting to bare it alone; everything that followed has proven greater. The act of advocacy need only start small.

From November 11th

Quiet Noticing.

Krabbe (Crab-A)

A simplified explanation of what is happening to Kenan: Because of the mutation he inherited from Dann and I to chromosome #14 (one copy of the mutation was passed on from each of us making a pair), his body is not producing enough of an enzyme called GAL-C. In the process of metabolism, GAL-C is required for cells to eliminate waste. Because his cells are unable to eliminate waste, it is building up in his brain creating a toxin that is destroying his myelin. The myelin is the coating that surrounds the nerve. Without it, the signal between brain and muscle cannot get through. In other words, there is nothing wrong with his cognition, his muscles, his organs, or even the signal; it is the conductor that is failing him. It begins with peripheral nerves (voluntary functions like moving your arms/legs) then moves through the brain stem (involuntary functions like swallowing and breathing). The reason Krabbe is so sever in infants:

 a baby’s brain develops rapidly during the first year of life with myelination being integral to this process. Kenan produced enough enzyme to get him through the first five months of life when his body’s demands outgrew his ability to supply. 

If there were a cure for Krabbe today, it would need to be threefold to benefit Kenan: It would need to allow him to produce the enzyme, it would need to repair the damaged myelin and it would have to remove the toxic buildup left behind. 

All Leukodystrophies affect myelin production.

Drawing of a “Brain” for Kenan by Tamsen (9/12).