SACHDNC January 2013 Newborn Screening Public Comment

Below is the comment I presented today, January, 31, 2013 to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children webinar meeting.

Dr. Copeland, Mr. Chairman and distinguished members of the committee

Thank you for this opportunity to present a public comment today. My name is Kristi. I am the parent of a child with a suspected mitochondrial disease, an advocate who served on the 2012 Baby’s First Test Consumer Task Force, and a chemist by education and training.

I would like to commend the panel on it’s continued efforts to expand the scope of newborn screening recommendations which provide early detection and an opportunity for early intervention to those who have these disorders, detected at birth. Today, though, I would like to ask for your additional attention of those children who are not identified at birth and who may have later on-set conditions. According to the European Mitochondrial Disease Network:

“One third of children with metabolic disorders of toxic accumulation or energy production are late onset. The symptom free period is often over one year and may extend into late childhood, adolescence or even adulthood.” (source: http://www.emdn-mitonet.co.uk/PDF/12-metabolic.pdf)

The fact that late onset conditions exist for nearly every metabolic condition, suggests that genetics and heritability are not the only factors involved in the progression of these disorders.  Environment must play a role in the epigenetic manifestation and heterogeneity of the populations of those affected by these conditions. I would like to ask this committee that you consider environmental influences in your further discussions of these conditions, going forward.

My daughter’s case was not one identified by Newborn Screening, and although we reported to our pediatrician as early as 2 weeks of age that she was not well, nearly 4 years later, many tests and medical claims, she is still undiagnosed and still “suspected” to have mitochondrial disease.  The fact that her symptoms, and other children’s symptoms like her, worsens with exposure to certain xenobiotic agents and the fact that her condition improves when these toxins are removed from her environment, points firmly to an environmental component to her condition as well as a metabolic one. It is convenient in this information driven world to focus on only the genes and the genetics…  but as is noted in the Centers for Disease Control, Gene-Environment Interaction Fact Sheet, in 2000:

“Virtually all human diseases result from the interaction of genetic susceptibility and modifiable environmental factors.”

I ask that this committee bring environmental factors into their discussions going forward. Environment may seem like a broad term but I believe some of the areas that should be investigated are food additives, preservative and pesticides, pharmaceuticals both prescription and over the counter, vaccinations both active substances and additives, and industrial chemicals from flame-retardants to volatile solvents. I assume that some of you will agree that children with heritable disorders are some of the most medically fragile children in our country, and therefore I believe it is safe to assume that they may be the most impacted by toxins, both those that build up internally in their bodies, because they are unable to process them, and those that come from the outside, which they also may be unable to process, leading to a greater toxic burden and a worsening disease state.

Thank you.

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