Thursday, August 11, 2016

"Just because you have feathers"

A handful of times, I have been led to a book.  A book that changes my perception on life.  That happened yesterday.  The book I stumbled upon is yet another random book I never would have set out to read.  It's about economics, finances...creating a life.   It's called 'How Will You Measure Your Life?' by Clayton Christensen.

The first chapter is about an early theory on business he came up with after graduating from Harvard Business School.  He talks about why businesses fail and how small, inconsequential companies eventually overtake the big players in an industry.  He titles this chapter, "Just because you have feathers."

He correlates his theory to the early invention of flying.  Humans, in their desire to fly, assumed that the way to fly was to strap on wings, jump off a high building and flap their wings.   Of course, they failed miserably.  Just because they had 'wings' and 'feathers' a correlation to flying, didn't mean they would actually fly.  They didn't understand the the fundamental causal mechanism of flying- what actually causes something to happen.

Since our appointments two weeks ago that ended in a litany of questions and disappointment and frustration to spare, I have been consumed with the thought that there is a missing piece to this whole dilemma we face.  It makes no sense that the doctors can't match the symptoms the kids are feeling to the function and numbers in the test results.

So, I have embarked on my own studies and understanding.  I have asked around on the Dyskeratosis Forum I am a part just to see if our story of deteriorating health rang a bell to anyone else.  Sure enough, many shared the same story line that we find ourselves in.  The kids just can't do what they use to do, yet, there is no explanation from doctors.  A couple of young adults even just slipped away from heart and lung problems even though they were told their heart and lungs were okay.

I find that doctors,even the ones who specialize and thrive in the rare arena, still rely on the textbook answers and numbers.  They rely on what they see everyday, measuring one patient against the next.  It makes sense but does it?

Clearly in our situation, there is no measuring stick to measure a population of less than 500 people worldwide and even more rare, the mutation my kids have that is known to be shared with just 1 other person.

My other research included studying about telomere's and what their role is in health and aging.  Dyskeratosis Congenita is a Telomere biology disease.  My kids have about 1% of their telomere length left.  The more a cell turnsover or replicates itself, like hair, skin, nail, muscles, the gut lining, bone marrow, the cell gets damaged because there is nothing to protect it which is the telomere's job.

I read a study in using Duchenne Muscular Dystrophy as the model in telomere shortening.  The study explained that MD patients pass away even with seemingly normal heart and lungs.   The diaphragm muscle is what aids the lungs in doing their job.  Without that muscle, the lungs can't function properly.  This deterioration isn't going to show up on any standard lung function testing. The study tested the telomere length in children with MD and discovered that they too had extremely short telomeres.  Without adequate telomere length a person suffers from cell exhaustion.  That is what was happening in Duchennes.  The muscles were experiencing cell exhaustion and without a strong diaphragm muscles or heart muscle, the patients pass away.

I could go on and on about my studying.  I feel like this is an answer as to why the kids are struggling more now than they did a year ago. It's the telomeres.

What I don't understand is why this is never really addressed.  Why it takes a mom to spend endless hours trying to figure things out.

It was this chapter in the book that sealed the deal for me.  Medicine needs to think in broader terms and stop assuming they know.  When it comes to rare diseases, being passive and accepting is not going to cut it. Just because the numbers are in normal range, doesn't mean everything is alright.  If all the flapping and feathers in the world don't make it better...keep looking.

Yet...more often than not, the medical community just wants to keep flapping on about the same old stuff.  It's time we move beyond the textbooks.  I'm getting plenty frustrated about our situation.  It is not an easy life to hear daily upsets about not feeling well and just look them in the eyes with the most helpless feeling in the world and wonder what will comes next.


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