Web Communities Help Patients With Rare Diseases Most Americans have looked for health information on the Web. But some "super-users" have used the Web to find others with rare diseases, connect with researchers — and even find new treatments.

Web Communities Help Patients With Rare Diseases

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People who are diagnosed with rare diseases can have a hard time finding doctors who know about their illness. They often have to become experts themselves. NPR's Nancy Shute looks into how these super patients are helping each other and also helping researchers to find new treatments.

NANCY SHUTE: A week ago Friday, Carmen Iglesias was at home in St. Louis when she got a long distance call. A young woman in New Jersey was in trouble and needed Carmen's help.

Ms. CARMEN IGLESIAS: Her name is Carla and she had gone to the hospital because she had had a lung collapse.

SHUTE: Carmen and Carla have two things in common. They both speak Spanish and they're both patients who've been diagnosed with a disease called LAM. Its full name is lymphangioleiomyomatosis. It's rare and it can be nasty, slowly replacing healthy lung tissue with muscle cells, making it harder and harder to breathe.

Back in Patterson, New Jersey, Carla had just been diagnosed with LAM and was desperate for information. That's why she wanted to talk to Carmen.

Ms. IGLESIAS: A lady in distress. She was very scared. Can you imagine how she felt?

SHUTE: Not only was Carla struggling with the LAM diagnosis, but the doctors had made another disturbing discovery.

Ms. IGLESIAS: They also found a huge tumor in one of her kidneys and she was told that the kidney was going to be removed in a couple of days.

SHUTE: Carmen knew that LAM patients do get kidney tumors but they're almost always benign, so she did what she does whenever she has a question about LAM, she logged on to Facebook. LAM patients have a very active Facebook group. She asked those women for help.

Ms. IGLESIAS: And in a couple of hours I had this huge generous response from everybody saying stop the procedure. Don't let anyone mess with the kidney.

SHUTE: Carmen translated into Spanish and telephoned Carla's dad, Marco Negrini.

Mr. MARCO NEGRINI: Carmen called me. She say, I understand that your daughter has the LAM disease, we just noticed.

SHUTE: Carmen told them about a doctor who is an expert in LAM. That doctor consulted with the family and said they had other options. At the last moment the surgery was canceled.

Mr. NEGRINI: Half an hour before and we stopped the surgery. So, wow, we feel good. It's a chance that we can save her kidney.

SHUTE: But it's not just the medical advice that has Mr. Negrini feeling good. It's also that the LAM patients have embraced his daughter.

Mr. NEGRINI: They calling her. They comfort her. They give information. I don't know. I'm really grateful to these ladies.

SHUTE: This amazing network was started 15 years ago by another LAM family struggling to find information and medical care after their daughter was diagnosed.

Sue Brynes was flying to Denver with her family when her daughter Andrea started feeling terrible pain in her chest.

Ms. SUE BYRNES: We were going on vacation and her lung collapsed during flight.

SHUTE: Andrea was just 22, a college student. LAM usually strikes young women. At the time, their doctor had only one article to get them about LAM.

Ms. BYRNES: They described LAM in that article as, you know, prognosis for LAM from five to eight years to live, so it was very frightening.

SHUTE: On the way home from the doctor's office, Sue promised her daughter they would find a way to do something about LAM.

Ms. BYRNES: She reached over and she touched me and she said mom, you're my best hope.

(Soundbite of crying)

Ms. BYRNES: And I said, it's kind of a - we tease about it now. We go, boy, now that's pressure, you know, you're my best hope. But that's exactly what she said and so I knew that I had to do something.

SHUTE: To do that Sue and her husband started a foundation that connects LAM patients, that's how Carla found Carmen. Patients also volunteer for research and raise money for clinical trials. One of those studies came out last month in the New England Journal of Medicine. It was the first to show that a cancer drug called Sirolimus helps preserve lung function in LAM patients. That's good news for all the patients. And 15 years after Andrea Byrnes' diagnosis, her mom says she's doing okay.

Ms. BYRNES: She's starting to have some shortness of breath and learning that she can't talk on the telephone and walk at the same time, and that's sometimes the first sign. She still compared to most of the LAM patients doing beautifully and she really is able to do pretty much anything she wants to in life.

SHUTE: Which is what any patient would hope for.

Nancy Shute, NPR News.

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