One in a Million

Well, actually... more like one in 800 million. But that is exactly how our family became the luckiest family.

I still remember when I was in 8^th grade and my parents sat me... and all the rest of my siblings... down for a family meeting. My parents told us that Simon, who was only about six or seven months old, has shown all of the signs of having the same challenges that three out of the four of his older brothers had. At that time, I had five brothers, four of them with disabilities, and one sister. The challenge: an Undiagnosed neuro-muscular condition... that was the name we gave it.

Fast forward about three years, and that is when Dr. Jen was introduced to us. Little did we know, Dr Jen was going to be the one to answer all the questions that we've had all these years. After many conversations, and a lot of life changes... my brother Michael passing away at 18 years old, three weeks before my wedding in 2009; and the birth of our wonderful little boy in 2011; and now... we finally are starting to have answers.

Today, for the first time we have a name for the condition my brothers have, PCH1 with SMA. The article came out today in a major medical journal named Nature Genetics and a synopsis of the findings of Dr. Jen and her team can be found online. (Click here for synopsis)

In an interview with UCLA newsroom, Dr Jen describes some of the amazing things that were accomplished with the finding of my brothers' condition. For example “ "When we began this study, mutations in the RNA exosome had not been associated with any human disease," Jen said. "Relatively little is known about the human RNA exosome. It is surprising that a gene that is expressed in every cell should have such a selective detrimental impact on the cerebellar and spinal motor neurons.”” Dr. Jen went on to say “"The discovery may lead to potential targets for treatment and in addition enhances our understanding of the biological function of the RNA exosome," said Jen. She is working with other neurologists to better define the clinical spectrum of EXOSC3-associated PCH1. "It is remarkable that all of the affected children in this family have survived beyond infancy. We are grateful for the generosity of the family in sharing their experience and participating in research to improve the lives of other children who are similarly affected," said Jen.”

(Click here for UCLA Newsroom Press Release)

There are only around 8 families in the world that have been officially diagnosed with this condition. And although I expect more people to find out they have it now that it has been discovered, it is still an extremely rare condition.

One of the only reasons they were able to discover what my brothers have so well was because my parents were so open to God's will in their lives. They were open to the challenges and the joys. They were open to the late nights and many hospital stays. They were open to traveling to France and going to Sea World. They were open to the good times and the challenging times.

If it wasn't for my parents and their willingness to allow God to continue to bless our family with ALL of my wonderful siblings, disabled or not, they would still not know the answers to this rare condition. It was only because the doctors could find all of the DNA and RNA traits that are common between all four of my disabled brothers and then go through the DNA and RNA between those common with the boys and take out the ones that are also in common with my other brother, my sisters, and I that they were able to accurately figure out what was going on with my brothers and with the other children around the world who are still alive waiting to figure out what was the root of the problem.

This is an amazing accomplishment. I am still in shock that after 21 years we finally have a name to tell people. I am finally hopeful that in my lifetime and my brothers lifetime they will be able to find something to at least slow the progression if not completely cure my brothers! What a blessing! And because of my brothers and family, there are many other conditions that will now possibly have a positive outcome because of how much the doctors are learning about my brothers' condition that they did not know about before!

Praise God! What a miracle!

Family Picture: Easter 2012

Michael & Daniel 2008