Daniel Hoffman

Daniel Hoffman

MOST parents dream of a 5-week-old baby who sleeps through the night, but Aga Warnell knew something was wrong. Her baby, Nina, just wasn't hungry in the way her other daughters had been.

Within weeks, Nina became very ill, says her father, Graeme. She was admitted to hospital with a rotavirus infection. Then she picked up pneumonia.

It turned out Nina had a condition called severe combined immunodeficiency (SCID). She had been born without an immune system due to a genetic defect. It is also known as "bubble boy" disease, since people affected have to live in a sterile environment. "The doctors said 'you need to prepare yourself for the fact that Nina probably isn't going to survive'," says Graeme.

 

EthansCure was present at the Ohio Capital in Columbus supporting Rare Disease Day. We would like to thank NORD for organizing the event and helping us all to raise awareness for barter syndrome. Daniel Hoffman spoke on behalf of EthansCure educating those present on Bartter Syndrome and Tier 3 Drugs. Please get involved and help us bring light to a very dark field. Contact your State Representative or Congressman, join our Facebook or other social media sites to grow our community.

 

Sunday, 15 February 2015 22:32

Rare Disease Day and EthansCure Coalition

On February 18th there will be a seminar in Columbus, Ohio benefiting rare diseases. EthansCure and the Bartter Syndrome Foundation will be speaking on behalf of barter syndrome.  We will be introducing barter syndrome and raising awareness into this rare disorder. If you are asking yourself, "How can I be involved, how can help raise awareness for barter syndrome?" You are in luck, please copy and print the above image displaying both the Rare Disease Logo along with Support for Bartter Syndrome. After printing, please post your family holding the above photograph and post on the Timeline at the Bartter Syndrome Foundation's Facebook Page. By telling your story and sharing your photo, you will help others to know what it is like to live with barter syndrome. Please share with ALL friends on Facebook to accelerate educating the general public on this rare disorder.

Friday, 06 February 2015 15:38

Thank You Salvatores and Generous Donors

We would like to send out a special thanks to Salvatore's Restaurants and Rose for sponsoring a fundraiser last weekend for the Bartter Syndrome Foundation. Your efforts will not go unnoticed and it is the support and generosity from people like you that allow us to continue to raise awareness and advocacy for barter syndrome. God Bless

Sunday, 11 January 2015 20:13

Gene Therapy Research

Gene therapy emerged 15 yr ago with great expectations for a marriage between the remarkable advances in molecular biology of the previous decade and clinical medicine. It was originally an innovative treatment for incurable diseases, so-called genetic disorders, in which the disease was caused by mutation, truncation, or complete loss of a single gene. In 1990, the first successful gene therapy was performed on two girls with adenosine deaminase (ADA) deficiency, which causes severe immunodeficiency (1). The number of peripheral lymphocytes increased by repeated injection of lymphocytes carrying the exogenous ADA gene, and the girls’ health stabilized to the point that they were able to attend school. Soon after, however, the investigators realized that the success of the gene therapy for ADA deficiency is a rare exception because most of the monogenic disorders cannot be treated simply by unlimited overexpression of the deficient gene. In addition, some of the monogenic diseases cannot be treated with available vectors because the genes are much larger than the size of the gene cassette of the vectors.

Monday, 29 December 2014 00:21

Bartter Syndrome and Gitelman Syndrome