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Let’s get right to the heart of the matter on this communication thing. Let’s drill down to the basics and focus on what it is like to sit in my wheelchair.

I can’t talk; I can’t sign; I can’t write you a note; I can’t walk up to you and introduce myself;  and my talking computer is impossible to carry around and extremely tiresome to use. To top it off I have seizures butting in on occasion, scaring people away. My sisters and brothers have similar impediments and some greater complications..

These are impediments which we accept gracefully. However, they are not the sum and substance of our existence. Odd as it may seem, they grant us a unique perspective.

Can you guess what it is? If not let me share a big secret with you. I spend my whole life LISTENING AND OBSERVING.

Let me ask you for a favor. Wipe away all your thoughts regarding my disabilities. Do you really think that behind these bright eyes there is no thought, no intentionality? Do you really think that in all the time I sit watching you and listening to you that I draw no conclusions about you or my world? Its ok if you answer “I never thought about it very much, if at all”. All I ask is that you give it more thought.

So let us strike up a deal. I promise I will never take offense when you stare my way if you promise me that you will never again assume that I or my brothers and sisters are not learning.

To help you along, let me share some of my knowledge. I know when I am happy or sad; I know when my body is comfortable or in discomfort. I know my medical condition quite well as I have overheard my parents and caregivers speak of it thousands of times. I know what’s funny. I go to school, a big one. I see hundreds of children running and jumping every day. I get the drift. Poppy will tell you that I try to walk every day. And if I could I would talk every day. I know all the moves and all the lines spoken in this play we call life. I rehearse them in my head all the time.

Inside I am normal 13 year old girl, buy me a pretty dress and do my hair and I will throw my shoulders back, and show you a big proud smile.

I like going out in public and when I show my glee and flap my hands and rock my chair at the mall, Poppy says ” go girl–let them know you’re here”. This is important to me, because it is me.

I have been fortunate that others have found HERE in me. My  aunt was one of the rare ones. She used to babysit me and when all were concerned about my development she remarked that “all the lights are on in there”. She could see it in my BRIGHT EYES. And at that time Poppy did picture drills. He would hold pictures far apart, asking which is which, making me turn my head back and forth, back and forth; like I didn’t know which is which.

He used to take me to Starbucks and we met a jolly old retired man who told Poppy I was sneaky. He said I played shy not looking at people who looked at me; but when they were not looking they got a good eyeballing from me. In fact yesterday, we met a friend of Poppy’s at Starbucks and Poppy got to talking again and telling him stories about me and the man told Poppy that  I rolled my eyes at one of his cock and bull stories. I did, but don’t tell him.

I know that we promised to interview others for this edition but it seemed to us that we needed to do a shout out for our HERE, and declare that we spend a lifetime listening, looking and LEARNING. We need more involvement in conversation, even if you have to read our lines. If you get to know us well enough you will learn our lines.

Next time we write we will have spoken to my bus driver, teachers and aides. Should I be so bold as to call them my references! Till then.

Early in twentieth century the Balkan Peninsula was subdivided into a number of countries; and so was born the term Balkanized. The term has come to be used when things are piecemealed into small and often competing units.

I think some day when the genome gets read for the price of good meal, your doctor  may say I don’t have the time to talk to you about all your missense, nonsense, alterations, inversions, deletions and copy variants. As one scientist said we will soon have cheap scan with a million dollar consult. But you will say that I have an autism spectrum disorder (fill in a blank) and the doc will say: “yes, but the last 25 patients walking out of here had that label too, but all had a different variant and we have to treat each one differently”. We may be on our way to being Balkanized, in a diagnostic way, if you will.

This was a week of frustrating research and writers block. But something beautiful did happen, Haley played hooky from school and I got to have her for the whole day. She fell asleep about mid afternoon before mom came to get her and I stole some time holding her while she napped. I kept staring at this girl and wishing I could see a cure for CDK5 mutation. I realized that this was the next part of the journey and a frustrating one, not only for me, but all of us. Haley was four at the time, relatively healthy, strong and thriving, at least, since June when we got control of the tonic clonic seizures. During this time I cruised the web looking at research, even took in lecture at the College of Nanoscale Science and Engineering of the University at Albany. It was a fascinating lecture on bio-engineering. I did it because I hate being helpless. I hold this beautiful child and wish I had a fortune to give away to fund a cure. But reality gets in the way, that’s not the way it happens. If that were so, Bill and Melinda Gates would have bought a cure for something. As it is, they seem to be trying to put their money to places where it makes differences now.

What you find when you really dig into the research, is that an enormous amount of exciting things are happening, but the complexity is daunting. It is happening because of the enormous impact of neurodegenerative disorders The University of Pittsburgh, Neurology Department puts it this way:

It is estimated that approximately one in four Americans will suffer from a neurodegenerative disease, and virtually all Americans will have a family member with one of these conditions. Unfortunately, the underlying mechanisms of neurodegeneration—and how they lead to disease—are not well understood. The complexity of these diseases makes it impossible for any single scientist to find the cause or cure. Instead, it will require an integrated, collaborative, interdisciplinary approach—involving interactive groups of scientists and clinicians. http://www.neurology.upmc.edu/pind/

Those of us who deal with these beautiful children, learn that they are ready willing and able to move ahead in their lives if we can just remove the roadblocks. We also know that they are our equal in their zest for life. And that zest we share is a most beautiful gift.

Ed Fennel

Grandfather to Two Rare Disorder Granddaughters

I was at the gym the other day, doing a stint on the elliptical and sharing stories with my neighbor. We are both retired and full time care givers. He has cared for his elderly mother for the last ten years. I am the nanny of two rare and medically complex granddaughters.

As we chatted it became clear to me that medical care in the home is evolving at a rate that exceeds the ability of health professionals to absorb its lessons. If the health system ignores the movement it does so at its own peril which includes its obligations to their patients.

It was buddy’s odyssey of the week that made that clear. As you see, he has been intimately involved with mother’s long term complex chronic needs and has seen his mother’s symptoms ebb and flow for a decade. The majority of the time in which he and his mother engage the health system can be categorized as health maintenance and not acute care. In many ways acute care to a caregiver is simple; step back and let MD’s save a life with skills that are consistent with their pay grade. The care for loved ones who have long term chronic complex problems and live at home is driven by vagaries of daily life, absent the support of all the hospitals resources, and packed with advanced nursing skills, sophisticated equipment, and complex management skills. It is well above the pay grade of doctors and most practitioners. Just ask any caregiver of a loved one with long term rare and complex medical problems and they will tell you the system seldom has a clue.

So it is when when my workout companion sees those symptoms that overwhelm his mother’s quality of life. He has seen it before; he has a pretty good idea of the cause, and more often than not knows the actual diagnosis; the probable prescriptive needs and the support necessary to get her over the hump and back home. However, an MD is needed to authorize the diagnosis, treatment, and discharge support. You would think that it is a no brainer to accept the caregiver as a colleague. It is a no brainer but Md’s are not trained to see it that way. It is about time that changes. It is time for medical practitioners to recognize that the practice of medicine has migrated from the hospital and clinic to the home. Shorter hospital stays, the advances of medical technologies available to the home, web access to medical knowledge libraries and absurd costs of hospital based services is dictating a migration of care to the home. There necessity is the mother of invention. Passion to serve those we love is the fuel. It won’t be long before there will be a transfer of funds from away from non acute hospital based care to the home. It is time for someone to wake up. Caregivers are waiting; they are up at all hours.

Ed Fennell

President

NYS Rare Disease Alliance

Editors Note: Ophanet annually publishes the prevalence of rare diseases; this report series begins with the most prevalent. The data describing each is sourced from the Genetics Home Reference Guide

Congenital bilateral absence of the vas deferens occurs in males when the tubes that carry sperm out of the testes (the vas deferens) fail to develop properly. Although the testes usually develop and function normally, sperm cannot be transported through the vas deferens to become part of semen. As a result, men with this condition are unable to father children (infertile) unless they use assisted reproductive technologies. This condition has not been reported to affect sex drive or sexual performance.

This condition can occur alone or as a sign of cystic fibrosis, an inherited disease of the mucus glands. Cystic fibrosis causes progressive damage to the respiratory system and chronic digestive system problems. Many men with congenital bilateral absence of the vas deferens do not have the other characteristic features of cystic fibrosis; however, some men with this condition may experience mild respiratory or digestive problems.

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