Chromosome 18 Registry and Research Society

When I first came up with the idea for this blog, I wrote to all of my friends and family, asking them to give me ideas for charities that are near and dear to their hearts.  I also stated I was especially interested in ones “you wish more people knew about.”  One of the first responses I received was from my great friend, Nora.  Because this charity is very near and dear to Nora and her husband Eric’s heart, I asked if they would please help me with this post.  Eric and Nora sent me the following:

"Your son has a rare chromosomal abnormality called 18p Deletion Syndrome.  He probably won't ever walk, talk or live independently.  He will have severe mental retardation.  Sorry to be the bearer of bad news, but I don't know much more about it."

With that, the doctor handed us a photocopy from a medical journal outlining our son's syndrome, as well as photos depicting severely disabled and disfigured children affected by other syndromes, and she walked out of the room.  It goes without saying that our world changed in an instant.

We knew something was wrong; there were pre-natal complications and warning signs in his ultrasounds, but nothing definitive. By just four months of age our son had already endured neurosurgery to correct a cranial abnormality as well as open heart surgery to repair a hole in his heart.  He also had a number of lesser issues that would need to be addressed.  In the first 18 months of his life, he endured ten surgeries and well over a million dollars in insurance claims.  But it wasn't until we were advised of his diagnosis - 18p Deletion Syndrome - that we knew what was causing it.  Sadly, the geneticist who gave us the diagnosis knew nothing more. 

We were on our own, literally and figuratively.  We felt devastated and alone.

Naturally, we turned to the Internet and quickly found the Chromosome 18 Registry and Society, an organization based in San Antonio that focuses on abnormalities related to the 18th Chromosome.  Its sole purpose is to help people afflicted with chromosome 18 disorders to live happy and productive lives.  While no organization could "fix" our son's problems, at least we finally had a support system and a place to turn for guidance.  The Chromosome 18 Registry quickly provided us with information needed to successfully petition our insurance company for experimental growth hormone treatment that, while unproven, was showing some signs of helping kids with our son's condition to make progress in the areas of intellectual and physical progress.  Without insurance coverage, this experimental treatment would have cost in excess of $100,000 per year.

The Chromosome 18 Registry and Society also organizes an annual conference which features an array of specialists in the areas of Chromosome 18 abnormalities, as well as updates on research and therapies that are benefitting other individuals with this condition.  Most importantly, the organization exists to let parents know that they aren't alone.  It is important to recognize that while cancer, autism and other "mainstream" diseases garner the majority of the research funding, there are many children affected by rarer conditions that receive almost no funding at all.

Nearly five years later, we now know that we aren't alone.  Our son is thriving.  While he still shows cognitive and physical delays relative to other kids his age, he walks, talks and lives a happy life.  Beyond our wildest dreams, he will be entering a "normal" kindergarten in August.  Much of his success comes from hard work: seemingly endless physical, occupational and speech therapy, early intervention and support. 

Without the Chromosome 18 Registry and Society, we would have been on our own.  Now, we're moving forward.

If you would like more information about Chromosome 18, please check out the following link:

http://www.chromosome18.org/Home/tabid/55/Default.aspx

How can we get involved?:

These are the items listed on the website for how we can help:

·         Visit the website

·         Become a member of the organization

·         Tell others about the organization (this is super important and easy to do)

·         Be a sponsor at the following levels:

“contributor”- $1 to $99, “benefactor”- $100 and above

·         Donate an item to the Annual Silent Auction

·         Participate in the Annual Golf Tournament

·         Participate in the Annual Run for Research

·         Contribute through United Way Donor’s Choice Program

·         Hold your own fund-raiser!

Making the decision to have a child is momentous.  It is to decide forever to have your heart go walking around outside your body. ~Elizabeth Stone

Chromosome 18 Registry and Research Society has been the answer to many parents’ prayers.