Resident Jo-Ann D’Angelo is asking for help, compassion, awareness, and hopefully funding for research into rare diseases. Worldwide Rare Disease Day is Saturday, February 29.

“There seems so little focus on rare diseases and I just wonder why. There are generous donors, but the rare disease community never seems to be thought about. I am hoping someone will read this and think that it’s time,” she said.

The US has celebrated Rare Disease Day since 2009. The recognition began in 2008 in Europe.

In a recent e-mail to The Newtown Bee, Ms D’Angelo wrote, “Raising public awareness truly makes a difference. It gives families hope and can lead to research and treatments.”

She continued, “There are rare diseases and some of them are life threatening and I want to speak for the entire rare disease community,” including herself. Ms D’Angelo, 76, was diagnosed with Parry-Romberg syndrome at age 10. This syndrome is “a rare disorder characterized by slowly progressive deterioration (atrophy) of the skin and soft tissues of half of the face (hemifacial atrophy), usually the left side. It is more common in females than in males,” according to the National Institute of Neurological Disorders and Stroke website, ninds.nih.gov.

She considers herself a young retiree. “I have spent a lot of time trying to obtain a grant,” she said, and added that she and supporters have started a grant through the National Organization for Rare Disorders (NORD), “but so far, it’s our own money … If enough money is raised, they will help source it to a research facility.” Learn more about NORD at rarediseases.org. The site states, “NORD is leading the fight to improve the lives of patients with rare diseases.”

Parry-Romberg syndrome is an autoimmune disorder, she said. “So, it is tissue attacking tissue.” She has had surgeries to correct it. “It’s a very challenging disorder,” with potential neurological symptoms including migraines and epilepsy, she said.

Ms D’Angelo wrote to The Newtown Bee on Monday, February 24, just in time for Rare Disease Day — the last day of February every year. This year has an especially rare February 29 on its calendar. “It’s so symbolic,” she said.

According to rarediseaseday.org, “The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.”

Ms D’Angelo wrote, “Each of us knows someone with a rare disease.” She notes the high statistics of people in the United States living with a rare disease, “making them not so rare.” Patients potentially have trouble accessing life-saving medical treatment or other services “because their insurance companies, physicians, elected and other officials may not be familiar with their disease.”

In her e-mail appeal, she stated, “I believe Newtown is a caring and supportive community and I am hoping this year that The Newtown Bee will inform its readers about the importance of supporting Rare Disease Day.”

She is asking Bee readers to “do something meaningful to mark the day.” She hopes “that someone will read the story and have the compassion and say that money should go toward research.”

The Newtown Bee reached out to State Representative Mitch Bolinsky, 106th District, this week regarding Ms D’Angelo’s efforts to raise awareness of rare diseases.

He replied, “I’m never too busy for a good cause.” Friday, February 28 is Rare Disease Day at the Capitol. He said, “I am a long-time advocate and supporter of this cause and will actually be speaking at the beginning of the event.”

Rep Bolinsky then invited Ms D’Angelo to join him. “I realize it’s short notice but if the constituent would like, she can be my guest,” at the breakfast event. He said, “I will be happy to introduce her to people that can give her a specific update on any work being done in regard to Parry-Romberg syndrome.”

Ms D’Angelo, unfortunately, could not accept the invitation, but she and Rep Bolinsky will remain in touch.

Show Your Stripes

Information found at rarediseases.org states, “The National Organization for Rare Disorders (NORD), the leading independent nonprofit organization representing over 25 million Americans living with rare diseases, is issuing a Rare Disease Day decree: Show Your Stripes! This campaign takes its cue from the majestic zebra, known for its distinctive stripes. NORD is imploring the world at large to show its stripes in support of the rare disease community leading up to and on Rare Disease Day.

“Showing your stripes means embracing one’s uniqueness and expressing support for the approximately 300 million people worldwide living with rare diseases.”

This year, NORD is asking individuals, organizations, and groups in the US to participate and show their stripes for Rare Disease Day in a variety of ways.

* Wear stripes on Rare Disease Day to show solidarity with the rare disease community.

* Challenge yourself and others to be as creative possible, from wearing head-to-toe stripes or zebra face paint to striping a lobby with banners or lighting up the exterior of a building with stripes.

* Share photos, stories, and videos of you and your network showing your stripes together on social media using the hashtags #showyourstripes and #rarediseaseday.

* Host or participate in events (virtual or live) in local communities to bolster knowledge about the rare disease cause.

Ms D’Angelo said, “You can wear stripes and post a picture on Facebook to show your support.”

Parry-Romberg Syndrome

In her e-mail, Ms D’Angelo wrote of her syndrome, “Because it is so rare there is no research. This leads to a feeling of being medically disenfranchised.”

Parry-Romberg syndrome is “kind of like something you would read in a Stephen King novel. It’s a wasting of facial tissue on one side of your face, it wastes away tissue, skin, bone, and can be disfiguring.” Her condition can be “life altering, not necessarily life-threatening,” she said.

There is “no known cause, cure, or treatment or research,” Ms D’Angelo said. Her personal frustration is “trying to raise money and research, and it’s unbelievable — there is no research for this rare disorder.”

“It’s a lot to be told you’re diagnosed with this,” Ms D’Angelo said. Diagnosed at 10 years old, she said, “It’s sad for me to know,” that even today there are young children diagnosed. Support groups exist, she said. “Someone can get in touch and ask who to go to, and it’s disheartening to say, there is no one. There are experimental drugs but none of them work; it’s disheartening.

“I have spent my life writing to anyone I know to get a research grant,” she said. “But there are so few people affected.”

Ms D’Angelo said, “I would like to live to see the start,” of research into her disease.

In her experience, someone with a rare disease may have difficulty in obtaining an accurate diagnosis and have limited treatment options. Little or no research is being done. Patients may have difficulty finding physicians or treatment centers knowledgeable on rare diseases.

She warns of reimbursement issues related to private insurance, Medicare, and Medicaid, and feelings of isolation and of having been abandoned by the health care system.

NORD

The National Organization for Rare Disorders, has an office in Danbury, 55 Kenosia Avenue. For information call 203-744-0100.

Patients can contact NORD’s patient services representatives at 800-999-6673 Monday to Thursday, 8:30 am to 7 pm EST and Friday, 8:30 am to 6 pm EST.

Information about support groups is available at rarediseases.org.

Residents can contact state and federal elected officials’ offices: Congresswoman Jahana Hayes (5th District), 860-223-8412; State Senator Tony Hwang, 800-842-1421; US Senators Chris Murphy, 800-225-5605 and Richard Blumenthal, 800-334-5341; State Representative JP Sredzinski, 800-842-1423; State Representative Mitch Bolinsky, 800-842-1423; and State Representative Raghib Allie-Brennan, 800-842-8267.