August 20, 2010

Why we support genetic research.

Life isn’t fair, but that doesn’t mean we should sit back and accept the injustice of it.

Throughout the quest for diagnosis and treatment over the past two years, I have come into contact with some of the world’s most loving and dedicated parents.

And, I’ve watched in horror as they watched their children, suffering from genetic diseases, slip away from even their tightest grasp.

When the worst came, I cried with them as their children died.

Since his inauspicious beginning, Bertrand has been though many potential diagnoses: brain damage, cancer, ataxia telangiectasia, lysosomal storage disorders, mitochondrial diseases, male Rett, Schinzel-Giedion, Lesch-Nyhan, a host of organic acidemias, and the list goes on. It’s not accurate to say I feel empathy for the parents for children with those diseases--I WAS the parent of a child with those diseases, if for a small time.

Bertrand has been studied by experts at the National Institutes of Health, Johns Hopkins, Duke, UNC, Baylor, and the University of Utah. He has been put through a battery of painful tests and treatments. Yet, his future is still uncertain because the precise genetic cause remains unknown.

Each time his diagnosis shifted or narrowed, I met a new set of children's faces that I'll never forget--to me, each of those children was Bertrand. I can’t forget the agony of their parents--it was my agony. Running the diagnostic gamut left so many marks on my soul... I want to do more than just save Bertrand. I want to save all the children he once was and all the children he could still be.

Bertrand's case, although medically unique, is sadly anything but unique in the special needs world. He was born to loving, healthy, young parents with diverse genetic backgrounds. He received the best prenatal care: vitamins, organic foods, frequent check-ups, no exposure to smoke, alcohol, or drugs of any kind. Every caution was taken, including a first trimester screen to rule out common genetic diseases. Ultrasounds at every trimester showed a healthy normal baby boy. Even at birth he scored perfectly on the APGAR.

That’s why I support genetic research. I am particularly excited about Rapid DNA sequencing--a vital tool for researchers discovering the cause of diseases as well as the researchers developing the gene therapy to treat them. Rapid DNA sequencing stands to benefit Bertrand and all other kids with rare and not-so-rare diseases.

Rapid DNA sequencing even stands to benefit me. It will be used in the very near future to warn of predispositions (thereby ensuring earlier screening and treatment) for conditions such as cancer, heart disease and stroke, all of which run in my family.

We ALL stand to benefit from the research enabled by rapid DNA sequencing, but it means the most to those facing life threatening conditions today.

If you haven’t already, please consider spreading the word about the importance of genetic research and consider donating to Bertrand’s Fund either directly or by purchasing a copy of The Illustrated Guide to a Ph.D. (all proceeds go to genetic research). Bertrand’s Fund supports genetic research being conducted at the Nobel-prize-winning Eccles Institute of Human Genetics at the University of Utah.

Life isn’t fair, but that doesn’t mean we should sit back and accept the injustice of it. Please support genetic research.


  1. Hi,

    I've read most of your blog posts, but I don't remember how you determined that Bertrand's condition is most probably genetic in origin. He was fine until 6 or 9 months, correct? Haven't all the genetic tests you've done come back negative?

    Just curious.


  2. I was listening to the 2nd hour of the Diane Rehm show today on NPR and it was about childhood epilepsy. There was a good amount of discussion about ketogenic diet and I thought of Bertrand.

  3. To a lesser extent, I know exactly what you're talking about. The twins took a few months to be diagnosed (muscular dystrophy), but in that time I felt that they "had" all of the diseases and conditions that they were tested for, too.

    I'm posting this blog entry on my Facebook page, because many others can relate, I'm sure. Thanks for writing it.

  4. I appreciate all that you wrote. Indeed, the field of genetics offers so much hope of cures and treatments. However, there is a dark side to it too. At least, I think it is a dark side. Where I live, if the cost of prenatal detection and termination is less than the cost of treatment and life, especially if there is any kind of disability present, well then the research dollars will be focused on prenatal detection and termination and children born with the conditions might not be offered any medical care beyond supportive or palliative care. I accept that to many, this is quite reasonable and yet just another benefit of genetics.

  5. This post speaks my heart. My daughter is almost 7 and still undiagnosed! We have been through SO much testing and consulting and guessing. Each time they say "perhaps it's this" and I research "this", in my head Emily has "this". Until I hear she doesn't.

    We are waiting right now on a blood test that would be devastating if it comes back positive. It's SUCH a hard wait.