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

We "Heart" Ohio Lake Effect

December 26: Christmas break continued at Grandma and Grandpa Spencer's (hot chocolate not pictured)...

Merry Christmas Morning Breakfast

My Christmas Present

Since Kenan's diagnosis, there is very little spontaneity in our lives. The snow started falling heavy during Christmas Eve Dinner at Grandma Witczak's house in Ohio. We all grabbed our coats and ran outside. It was our first snow of the year making for a perfect memory.

Tree Trimming 2012

Tamsen owned it. We would have been perfectly happy letting her decorate the bottom three feet and calling it a wrap on tree trimming 2012 until she requested we lift her up to reach the top.

Those Lips, Those Eyes

Thanksgiving continued,  Part V:

In an attempt to get footage of Kenan tasting for you to better understand his level of participation, I ended up with much more: a 30 second display of his awareness, ability to make comparisons, form a decision based on the comparison and then express it.

The Setup: It is late afternoon over Thanksgiving weekend. K's favorite part of the Thanksgiving meal was cranberry sauce. (Foods that tend to be tart elicit a stronger reaction.) We had some earlier in the day. I'm offering it to him again. What I didn't realize until I sampled it after the fact, is that the texture had become gritty (it was homemade) and unappealing.