AHS Observes 15th Anniversary!

 

March 31, 2013 marked the 15th anniversary of the American Hemochromatosis Society (AHS).  My mother, Josephine Bogie Thomas, who was diagnosed with hereditary hemochromatosis in 1983, served as my inspiration for founding this non-profit organization and my father, Joe Thomas, offered emotional and financial support to get us up and running.  Finally, with the technical help of David Snyder, we were able to launch the American Hemochromatosis Society in March 1998.  Little did we know that my mother would die from hereditary hemochromatosis (HH) a little more than a year later, on May 13, 1999.  At least she lived long enough to see our society get off the ground and start to reach out to the public. 

Remember, in the beginning, every household didn’t have a computer, laptop, iPhone or iPad.  These devices were not everyday commodities like they are today.  We relied on snail mail requesting information on HH.  We would mail out educational brochures and also take phone calls from folks who had read an article in the newspaper about our new society.  Through the years, we found our members increased through the Internet.  I started a chat room on HH on AOL.  Then, we started an online support group, “Families HHelping Families” and created a website (www.americanhs.org)  We communicated through email, and now 95% of our communication with the public is through email or Facebook, rather than snail mail.  Of course, we still get many phone calls, and pride ourselves on offering personal support to our callers, with information as it relates to their specific case as well as emotional support for the seriously ill or bereaved. 

We have been blessed to have so much media coverage of AHS and HH.  Newspapers, radio and TV shows, news shows, both local and national, have focused on hemochromatosis.  Even well known medical TV shows, like “House” have featured hemochromatosis.  I have been quoted in national publications discussing hemochromatosis, and appeared on national TV news programs talking about genetic screening.  Newspaper columnist, Ann Landers, raised awareness by publishing several letters which I wrote to her.  Publicity has, no doubt, saved many lives. 

Ever since the discovery of the HFE gene mutation for hemochromatosis in 1996, I have been a strong advocate of genetic screening.  Through AHS, I have promoted national CLIA rated labs that perform DAT (direct access testing) for the public (www.kimballgenetics.com or www.hemochromatosisdna.com or www.healthcheckusa.com  or www.23andme.com).  That means that the public can order their own tests and get the results directly and privately from the lab.  This has been a major plus for the public, which is still struggling to learn about the dangers of hemochromatosis and how to test for it.

It was at a medical convention, that I met Annette Taylor, PhD, president and owner of Kimball Genetics lab in Denver, Colorado.  I approached her and suggested that we offer direct testing for the hemochromatosis gene mutations.  We took small steps at first, offering the public the opportunity to get a copy of their results once they convinced their doctors to test them in the first place. Naturally, the doctor got a copy of the results, but often the patients could not get a copy. Many bitter complaints continued from patients, who were unable to get their doctors to test them for hemochromatosis.  Other patients stated that their doctors were outraged that the lab would send a copy of the test results to the patient, as well as the fact that the lab would let the patient “order” the test in the first place directly from the lab.  Something had to change.  I urged Dr. Taylor to press on and to offer direct testing, with a copy going to the doctor.  This type of testing evolved through the years, offering patients the chance to be tested when doctors refused to do so (even when there was a family history!)  Now, in 2013, we have a number of labs offering direct access testing, with genetic testing ranging from $99 (www.23andme.com) to $156.00 (www.hemochromatosisdna.com) and up.

Through the years, I have encountered another form of hemochromatosis, a form of iron overload which affects newborn babies.  It is called Neonatal Hemochromatosis (NH).  It is a devastating disease, not genetic like HH, but just as deadly as the iron reaches toxic levels in the baby’s body, finally causing the child to become very ill, and in most cases, die.  Because there was so little information about NH on the Internet, I founded the Neonatal Hemochromatosis Information Center (NHIC) (www.neonatalhemochromatosis.org) to help connect families which have been affected by NH and give them information on this rare condition.  The research of Dr. Peter Whitington has helped changed the face of NH, by offering hope to families which have been affected by NH in the past so that they can have another child which will survive, even if affected by iron overload.  This miraculous turn of events has been made possible by Dr. Whitington and his team who have discovered a treatment given to the mother during her next pregnancy.  The results have been nothing less than amazing.   We continue to support the work of Dr. Whitington, and hope and pray for a cure in the future.

Originally, AHS was based in Delray Beach, Florida where I lived in 1998.  When we went to Pittsburgh, Pennsylvania in late 1998-1999, to try to save my mother’s life through special treatments offered there, AHS went with us.  After my mother’s death in 1999, we sadly returned to our home in Delray Beach, where we continued our work with AHS.   And, in 2001, when we moved to Orlando (Lake Mary), Florida, the American Hemochromatosis Society once again, moved with us.  Our service to the public has continued, non-stop for 15 years.  We have seen the public become more empowered with self testing labs gaining more recognition in the community.  Our outreach has gone international, and we receive emails and phone calls from all over the world.   We refer patients to various doctors around the country based on the patient’s situation and stage of hemochromatosis.

Our “National Hemochromatosis Genetic Screening & Awareness Month” is held every May to coincide with the date of my mother’s death (May 13, 2013).  During this month, we send out press releases and contact the media to make a special effort to educate even more people about how easy it is to diagnose, treat, and even prevent, hemochromatosis with early DNA testing

I want to thank everyone who has helped AHS through the years, from the first idea that we could start such an organization to the work that we do today.  Thank you for giving us the privilege of helping you in any way we can.

        Sandra Thomas, President/Founder, American Hemochromatosis Society (AHS)