Gone But Not Forgotten: Brady Cunningham's Story

I'm not one to watch the news or keep up with the current events, mainly because I tend to dwell on the negative. Sometimes, to the point that I make myself sick...literally. It's just my nature. However, I am a complete activist in the same respect.

Today I learned that HB716 passed here in Missouri today. What is HB716? This bill allows for...well, actually requires...the testing of 5 additional lysosomal storage diseases during DHSS newborn screenings.

And why is this important? I'm glad you asked...
First of all, a bit of background about lysosomal storage disease copied straight from Wikipedia...

Lysosomal storage diseases (LSDs) (pronounced līsəˈsōməl ) are a group of approximately 40 rare inherited metabolic disorders that result from defects in lysosomal function[1]. Lysosomal storage diseases result when a specific organelle in the body's cells – the lysosome malfunctions.

The lysosome is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recycling are stored in the cell.

Lysosomal storage diseases affect mostly children and they often die at a young and unpredictable age, many within a few months or years of birth.

There are no cures for lysosomal storage diseases and treatment is mostly symptomatic, although bone marrow transplantation and enzyme replacement therapy (ERT) have been tried with some success.[3][4]. In addition, umbilical cord blood transplantation is being performed at specialized centers for a number of these diseases. In addition, substrate reduction therapy, a method used to decrease the accumulation of storage material, is currently being evaluated for some of these diseases. Furthermore, chaperone therapy, a technique used to stabilize the defective enzymes produced by patients, is being examined for certain of these disorders. The experimental technique of gene therapy may offer cures in the future[5]

OK, Now back to why this is important to me...

Recently in my hometown, an 11-month-old precious baby boy passed away as a result of a rare, unscreened genetic disorder. Brady Alan Cunningham was not diagnosed with Krabbe disease (CRAB'-ay), one of 40 known types of lysosomol storage diseases, until several months after his birth. Shortly after birth he began shaking a lot which was blamed on an immature nervous system. He began having other symptoms, such as stiffening his body as if in pain, profuse crying and refusing to eat, which his family could not ignore. This lead them to St. Louis' Childrens' Hospital where he was later diagnosed with Krabbe disease.

Krabbe disease is caused by mutations in the GALC gene, which causes a deficiency of an enzyme called galactosylceramidase. The buildup of unmetabolized lipids affects the growth of the nerve's protective myelin sheath (the covering that insulates many nerves) and causes severe degeneration of motor skills.

According to research from the National Institute of Neurological Disorders and Strokes, if the screening had been part of the normal newborn screening process, [Brady] could have received a bone marrow transplant or cord blood transfusion, which could have stopped the progression of the disease, possibly enabling him to have a normal life. However, since it took so long to diagnose the disease, doctor's were unable to treat [Brady's] condition and gave him a life expectancy of 13-months. ---from Daily Dunklin Democrat news story dated 04/09/09 http://www.dddnews.com/story/1529226.html

Brady died on April 6, 2009.

Although this may not be a comfort to his family right now, precious Baby Brady did not die in vain. Because of his family & friends' awareness & advocation, countless children may be able to live long happy lives as a result of the new implemented newborn screenings. I, for one, am truly thankful that this family had the wisdom and courage to fight to have this bill passed. HB716, forever named after little Brady, establishes the Brady Alan Cunningham Newborn Screening Act which adds certain lysosomal storage diseases to the list of required newborn screenings. Brady may be gone, but he will never be forgotten!

Krabbe disease effects 1 in every 100,000 births. Currently, the United States does not have a Universal Newborn Screening Program; therefore, there is an inequity of diseases screened at birth from state to state. To find out more about Krabbe disease and HB716, check out the links at the end of this post.

Please keep Brady's family & friends in your thoughts & prayers.

http://www.huntershope.org/

http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm

http://www.house.mo.gov/content.aspx?info=/bills091/bills/HB716.htm