Doomed By Delay, Chicago Tribune Special Report, October 5, 2017.

Link: Doomed By Delay: Special Report

If You're Happy and You Know It

In typical Target fashion, they have a charming commercial out called "Clap Your Hands". Is is full of little babies doing all their adorable little baby things. And even though I have a beautiful, healthy, vibrant daughter that the commercial speaks of, without hesitation, my mind sinks into the loss of that experience with Kenan. It aired again last night and I made a conscious choice to think about Tamsen instead. But conscious choice doesn't transform emotions. I am sad. I am profoundly sad. As I listen to, read about and study the woman who have walked this path before me, I understand that this sadness will be with me for the rest of my life. I will be sad for the rest of my life. 

Say, "Hi Kenan!"

One thing I cannot imitate for Kenan, the voices of children, the overlapping sounds of laughing, screaming, playing, and crying as they bounce off the surrounding playground, trees and buildings. A noise Kenan has enjoyed since he was an undiagnosed baby. Here we are at our local, around the corner, nothing fancy, rundown park. What's nice is that it is adjacent to a preschool. I try to time our visits with their recess. When children approach us with timid curiosity, I encourage them to ask questions, interact and most importantly say, "Hi Kenan!". We all want a friend. I can easily imagine his loneliness. As Kenan grows so do his social needs. 

I'd like to take this opportunity to thank Chris Thomas of DesPlaines, IL (the older brother of my best friend from 213th St. in Euclid, OH). Earlier in the Spring his FCCDP Sunday School Class made several videos of the themselves singing, dancing, being silly and talking to Kenan and Tamsen. We play them periodically to fill in the gaps between Tamsen's playdates filling the room with the sound of children being children. 

A "Hurray" Worth Championing

April 12th

Today in physical therapy, with his AFO's and knee immobilizers on, Kenan stood freeform for five whole minutes. I don't know how evident it is, but he is doing most of the work balancing and bearing weight through his back, hips, legs and feet. Mary Kate, his therapist,  is there for head and arm support only. A year ago he could not sustain more than thirty-seconds at a time. An achievement that is testimony to the benefits of his stander regime and the strength his body and mental tolerance have gained from it. 

My beautiful, beautiful boy, to see you standing like that is to simultaneously "see" you running around the house.

"The Things They Carried"

In the opening chapter of "The Things They Carried", a series of short stories about the Vietnam War, Tim O'Brien introduces his main characters by describing in great detail just that: from the weight, shape and smell of gear, artillery, and ammunition to the worn out photographs of family, letters from a hopeful girlfriend or the pantyhose of a lover worn like a bandana around the head.  O'Brien mixes the weight of the physical and emotional leaving you questioning which is heavier. I read this book in graduate school but find myself thinking about it now as I toil with the day-to-day load of Kenan's equipment. 

I broke down last week over the suction unit, an end-of-life machine that has become my artificial appendage over the last year.  It is heavy, awkward to carry, depressing to look at, poorly designed and startling in sound. I often wonder what the neighbor behind us thinks as he hears it turned on every five minutes during the early hours of the morning, Kenan's hardest time of the day. Point blank, our boy is dependent upon it. Even more so over the course of the winter when his first cold mutated into another, then another and another after that. Ever few feet, all day long, I seesaw between him and it. I bend over, pick him up, carry him, put him down, go back, bend over, pick it up, carry it, lay it down, from this side of the room to that, from here to the bed, from here to the bath, from here to the door, door to the elevator, elevator to the car. And then I repeat it on the way back. The cold temperatures don't  help. The plastic tubing freezes, becomes rigid and disconnects, the wand (mouthpiece) follows, landing dirty on the ground.

On an easy day, the ones I hope return as the weather warms, we are  dealing with simple saliva production. On the hardest, a thick mass of congested mucus builds in his upper airway. It starts as a muted gargle in his throat then grows steadily into a loud, thunderous clog. It is the sound of annoyance. I wait patiently for Kenan to cough and when he can't, I position him every way possible, just short of holding him upsides down. We do the nebulizer, the vest, the stander, but there are times it cannot be coaxed out. This particular day, we wait 9 hours, from 7am to 4pm. 

I am a quick draw with the wand, maybe even the quickest. I take pride knowing Kenan can count on me to be there and do my part. When the moment arrives, half of me is prepared while the other is always caught off guard. For him, the force required to cough ignites convulsions that resemble a full body seizure. It is a frightening site. One that I cannot and should not take my eyes off of. In these anxious seconds, one hand finds the wand and is in position while the other reaches for the On/Off switch, a switch that SHOULD project enough off the surface it can be found blindly. But it does not and I loose crucial seconds fumbling for a trigger that would cost me my life if I were THAT kind of soldier. If Kenan swallows the dense volume of oxygen-restricting snot he has produced, it will not cost him his, but that is not the point.

Every night as I clean the machine as part of its daily maintenance, I stare at the bowl and study the reservoir that holds the content of my son's insides. They are suspended, stretched out in a hazy cloud of water. He is asleep in the other room and yet also right here with me. As I reluctantly empty it, without fail, my mind drifts to the day he dies: his body taken away, lying alone in a funeral home and yet through the relic of this bowl, right here, still with me. On that day how will I let something so valuable, so precious, so loved, so fought for go. Again.

Two counterintuitive points: The On/Off switch is recessed further back 

than any other nob on the devise and you push it up rather than down to 

turn the machine on. A side note: Tamsen has helped by decorating ours 

with her stickers.

Krabbe Translational Research Network

March 6-10:

I was honored to be invited by the Program for the Study of Neurodevelopment in Rare Disorders to speak at the 3rd Krabbe Translational Research Network Annual Conference in Coral Gables, FL. It was an international group of Krabbe researchers, some of which have been studying this disease for over 30 years. I spoke on the perspective of the family including the emotional, social and financial impact of the living with the disease. I was proud to have Kenan in my lap and leaned that for some, this was the first time they had ever seen an affected child. It is profound to think of the impact we can have, as if we were right there in the lab working side-by-side with them; Kenan representing the group of children they are working for. The meeting was sponsored by the Legacy of Angels, a foundation started by Paul and Sue Rosenau, who lost their granddaughter, MaKayla Pike, to Krabbe over a decade ago. http://www.tloaf.org/. It was an honor to meet their family. We were all in the beautiful setting of the historic Biltmore Hotel and spent a few extra days having a spring break. It was a lovely week for our family!

The Biltmore: Coral Gables, FL

On the grounds of Coral Gable's First Congressional Church

       Bill Baggs State Park, http://www.floridastateparks.org/capeflorida/

Rare Disease Day 2013

Today is Rare Disease Day of which there are over 7,000 disorders. 1 in 10 people are affected. 50% of those affected are children. 30% of those children won't live to see their 5th birthday. It is a community with a small voice considering how widespread and devastating its illnesses can be. Please visit The Global Genes Project for more information on how you can support our cause.

For Now

  For Now

  On a pale sheet

In a quiet room

Against a still sky

I lean in 

Press your cheek against mine

Our every inhale measured by the seconds of your name

Every exhale multiplied by the hours of mine.

For as long as you can

As long as you'll let me

We'll lie here, resting

On this made up equation of time.

Report from Pittsburgh: In the Eye of the Storm

Kenan is doing well. Even though he has two copies of the "early infantile" chromosome deletion, something else genetically is protecting him from a more rapid deterioration. He is in stage two of three. There has been further demyelination across the board but the main point is that the disease has not yet spread to his brain stem. Although his apnea will continue to progress (erratic and delayed breathing) his body should be able to adapt in the short term provided it does not have to contend with additional stressors (illnesses). Our main goal at this point is to keep him as healthy as possible. His breathing has been a main source of anxiety so with this information Dann and I have found ourselves relaxing more mentally. In bold letters, Kenan will be with us longer than his original prognosis; case in point to why early identification and research are crucial. Right now, leukodystrophies are a Gordian Knot of complexity, but with each child that is tracked, the puzzle becomes more refined. We are obliged to participate if only to be the decimal of a percentile, the line on a graph or the arch of the curve that will help the next generation of diagnosed children until there are NO MORE.

Kenan's 2nd Birthday

February 5th: We celebrated Kenan's birthday with just the four of us: no work, no school, no distraction. He knew the day was about him; this was our gift to him and his gift back to us. There was a beautiful cake, champagne and presents but our favorite part was jumping on the bed to Green Day's Holiday.

Tamsen sharing her present while talking birthday.

Somehow we distracted Tamsen away long enough giving Kenan a full ten minutes inhaling nothing but buttercream. Red is the easiest color to see and based on initial reactions, his eyes clearly responded.

On a Plane to Pittsburgh

In January, Kenan and I made our second annual trip to participate in the Program for the Study of Neurodevelopement in Rare Disorders at the Children's Hospital of Pittsburgh. Lead by Dr. Maria Escolar and team, their goal is to improve the quality of life for children suffering from rare disorders and help them live to their fullest potential through education, innovative research and clinical intervention. Through all of the above, they have been the primary resource for how we approach Kenan medically and provide him with the best care. Second but equal, we are grateful to contribute to research that can alter the course of degenerative neurological diseases for the next generation of affected children and their families. 

Kenan undergoing an ABR (Auditory Brainstem Response) which records brainwave activity in response to sound. 

The NCV (Nerve Conduction Velocity) where an electrical impulse is measured as it is transmitted through the nerve. A delay in the speed of transmission indicates nerve disease. In relation to Krabbe, Kenan did much better on this test last year than expected. 

Waiting for Kenan to come out of sedation, post MRI. The images will show the demyelination as it has progressed through his brain. The results of all tests will be compared with those from last year tracking the course of the disease up to this point.

The Smaller is to the Greater

The beginning of 2013 has been difficult. Nine children died in my circle of Leukodystrophy friends, four in one week's time including Jo-Jo Garcia, a member of our band. As an affected family we have our personal story and then as a community we have our group story. They are separate but equal. We feel immense sadness and grief when one falls. Our empathy is tangible; mine is asleep in my lap right now. It is the course we are on; none of us can change this except through the strength of our kids. This is when we lean on them. Tamsen and Kenan guide me through days like these.

The best we can do right now: Please support Expanded Newborn Screening for treatable diseases in your state but do not wait for it. Illinois included Krabbe as part of its NBS in 2007. Kenan was born in 2011. It has yet to become available to the public and in the interim, we have another diagnosis in a neighboring suburb. You can order supplemental screening directly and have your baby tested for 60 fatal but treatable diseases. Not your typical shower gift but potentially life altering through knowledge and choice. Please visit Hunter's Hope for information on both: 

http://www.huntershope.org/site/PageServer?pagename=unbs_supplemental

January 21, 2013: Watching the Inauguration

When the significant is ordinary and the ordinary is significant.

Horse to His Armor: Kenan’s Stander

Written January 8, 2013

We have been waiting seven long months for this baby to arrive (insurance related). The Stander is probably the most crucial in the prevention of morbidity - something I talked about in an earlier post on his splints. For the first time ever, Kenan gets to experience his body in complete head-to-toe vertical alignment. Based on tolerance, a child can start out flat, parallel with the floor and slowly work their way up over the course of months. This is due, in part, to the heart not being used to pumping blood against gravity which can induce dizziness and nausea. Currently, Kenan is at a 60-degree angle. The Stander allows him to bear weight comfortably, strengthening his muscles and set his joints. Gravity now can affect his vital organs so that they can rest in what’s meant to be their intended alignment. He spends 1-2 hours standing both in he morning and afternoon. There is a mating tray table allowing his hands to rest and providing a surface for activities. He is calmed and comforted by the experience of standing and will often fall asleep. When fully harnessed I can push him around the house (and perhaps outside come spring) giving him the sensation of moving through space upright- a true gift!

Putting them close in height, Tamsen's ability to interact with Kenan has also 

grown with the new apparatus.

New Year's Day

On day #697, he stood over his city and declared himself "Boy To The World". People often ask me if I have a "bucket list" for Kenan. I don't think of his life in those terms, but this is one image I wanted to make real for myself. Although his visual experience was limited, he was able to take in the numerous foreign languages spoken around him and listen to our nervous thrill as we stepped out onto the ledge. 

http://www.theskydeck.com