The HFA hosted an Open House in Washington DC on February 25. All were welcome to attend. Stories were shared from the bleeding disorder community. Contact m.pascucci@hemophiliafed.org for more information.

Polka Dot Day

On February 19, the Mastokids.org encouraged people to show support of Rare Disease Day and pediatric mastocytosis by wearing Polka Dots, Awareness Ribbons, and other Mastokids apparel. They are now putting together a photo collage of all participants to show support of RDD. Send photos to awareness@mastokids.org.

A Pageant Ready Day

February 28th in Ann Arbor Michigan Stephanie Hunt (Mrs. Washtenaw County America 2010 and Mrs. United States 2007) hosted a pageant preparation day to raise funds for rare disease research. The event included representatives from all aspects of the pageant world needed for a pageant win and an auction of donated items. Please contact stephanie@stephanie-hunt.com for more information.

Middle March

Lincoln Park’s National Honor Society has identified Rare Diseases as their main focus for their awareness and fund raising this year. Including selling t-shirts at an event on March 17 at the Middle March Celebration, for more information contact tinapoon08@gmail.com.

The entries all sounded so deserving that NORD was unable to select winners so we held a drawing at a Rare Disease Day event at the University of Connecticut. A UCONN student (sophomore Liah Nelson) drew names from a bowl. The Flip-cam winners are:

• Alstrom Syndrome International
• ECD Global Alliance
• MAGIC Foundation
• Periodic Paralysis Association

Thanks to all who entered this contest. We wish we could give Flip-cams to all!

The Bucci’s want their story told, “so that we can lend our voices to so many who don’t have one. We would be honored to help raise awareness.”

This is as much about a rare disorder as it is about a husband’s steadfast and persistent efforts to obtain a diagnosis and a cure for his wife.

In January, 2007, Maria, a 44-year-old former international model and mother of four, developed numbness in her toes. At first these symptoms were not alarming, but within a week it had spread to her right arm. Her family physician referred her to a local neurologist.

Robert and Maria Bucci, prior to the onset of Maria’s paraneoplastic stiff person syndrome.

Maria was diagnosed with a “pinched nerve.” But the symptoms progressed, leaving her barely able to walk.

Robert found a highly reputable neurologist at a large metropolitan teaching hospital, and Maria was admitted as an in-patient for testing. Originally planned as two days of testing, it became a 16-day admission. She was discharged using two canes for walking, experiencing increasing pain in her right arm—and no diagnosis.

“I prayed for guidance,” says Robert, who then launched an online search for information about a disorder that had been erroneously considered as Maria’s diagnosis. This led him to learn of Dr. Norman Latov, Director of the Peripheral Neuropathy Research Center at Cornell Medical Center. In desperation, Robert went to Dr. Latov’s office and,
“I got down on my knees and begged for an appointment.”

It was now mid-May 2007, four months after the onset of symptoms. The earliest available appointment with Dr. Latov would be in two weeks. Robert and Maria felt it was worth the wait.

Dr. Latov examined Maria, reviewed her records, and concluded that she had the signs and symptoms of a rare disorder called “stiff person syndrome.” This causes debilitating muscle stiffness and episodic, painful spasms. But to make matters worse, Dr. Latov suspected that it was being fueled by an undiagnosed malignancy—that it was a “paraneoplastic” form of stiff person syndrome.

Paraneoplastic neurologic syndromes (PNS) are a group of rare conditions that affect the nervous system in patients with cancer. The syndromes aren’t caused by the tumors themselves, but by the immunological reactions–antibodies–that the body produces in response to them. Often, the malignancy goes undiagnosed because the antibodies hold the tumor growth at bay.

Blood tests ultimately confirmed the presence of a paraneoplastic antibody, anti-amphyphysin, often associated with breast cancer. A chest MRI revealed a left chest mass, and a mammogram with ultrasound revealed a suspicious growth in Maria’s left breast.

Maria had undergone a routine mammogram three years earlier at age 41, which was normal. There was no history of breast cancer in her family.

Robert tracked down a renowned breast cancer surgeon, Dr. Michael Osborne, Chief of the Breast Service at Cornell Medical Center. “You’re a persistent fellow,” Dr. Osborne remarked, realizing the extraordinary effort Robert had made to locate him.

Unable to perform an immediate consultation, Dr. Osborne arranged for a trusted colleague to see Maria. In July 2007, after a biopsy confirmed the diagnosis of breast cancer, Maria underwent a left mastectomy.

Despite successful surgery, no evidence of metastasis, and postoperative chemotherapy, the symptoms of PNS did not abate. Maria also received medications for stiff person syndrome, which include muscle relaxants and IVIG (intravenous immunoglobulin).

In August, 2007 the Cornell physicians planned for Maria’s discharge to a nursing home. Disagreeing with this plan, Robert sought the expertise of Dr. Jerome Posner of Memorial Sloan-Kettering Cancer Center, an expert in paraneoplastic neurologic syndrome. After consulting with Dr. Posner, and as a result, Maria was transferred to Columbia Presbyterian Medical Center for further pain management. She then went to a skilled nursing facility, and finally returned home on December 8, 2007, almost six months after her mastectomy.

Dr. Posner still plays a major role in Maria’s care, monitoring her condition, antibody levels, and ordering IVIG and other medical treatments that she receives at home.

The PNS caused Maria to lose her hearing in both ears and to develop type 2 diabetes. While the cause of the deafness is not fully understood (and is an extremely rare event), diabetes is known to develop in people with stiff person syndrome. “I communicate very well with Maria through her lip-reading ability.”

In October, 2009, a biopsy of Maria’s other breast revealed a pre-cancerous growth, and a second mastectomy was performed. While there is currently no concrete evidence of a remaining malignancy, the struggle with the unrelenting effects of PNS continues.

Currently, Maria is homebound, unable to walk, and requires daily personal care and on-going physical therapy. Medicare pays some, but not all, of her medical bills. Robert is her primary caregiver.

An article about the couple in their local newspaper, written to help raise funds for Maria’s care, states that, “During times of despair, Maria has turned to Robert and asked, ‘Aren’t you tired of looking at me like this?’ Robert always tells her that he’s tired of seeing her suffer, “But I’m not tired of seeing you.”

Dr. Posner has recently started Maria on rituximab, a medication that is a form of immunotherapy not yet FDA-approved for either stiff person syndrome or paraneoplastic neurologic syndrome. There have been some promising studies, and Maria’s and Robert’s fervent hope is that this will be a helpful treatment.

If you were to ask Robert what makes a physician great, he will tell you, “Great doctors have one important trait in common—humility.” He says that, “Dr. Latov,
Dr. Osborne, and Dr. Posner are humble, wonderful doctors.”

Reflecting on the ordeal of the past three years, Robert says, “I’ve long understood, before my wife became ill, that we are only going to go through this lifetime once.” He vows that he will “…do whatever it takes… chasing miracles…” to help Maria. “I will not rest until my wife is well.”

Uplifting Athletes Advocacy Day

Uplifting Athletes is sponsoring an Advocacy Day in Washington DC on Friday, Feb. 26. All are invited. Meet between 9 and 10 a.m. at 818 North Quincy Street, Arlington, VA. Brief presentations. Following lunch (on your own) the group will travel together via the Metro to Capitol Hill. Topics of special interest: Insurance Caps and Newborn Screening. Information.

Wear Your Jeans on Rare Disease Day

The Global Genes Project urges everyone to wear jeans on, and during the week leading up to, Rare Disease Day. Information.

Discovery Health to Air Show Based on Dr. Gahl and NIH Program

Discovery Health TV will air the world premiere of “Disease Detectives”, a show based on the real-life experiences of William Gahl, MD, and the NIH Undiagnosed Diseases Program. View promo.

University of Connecticut

The Pre-Medical Students Club of the University of Connecticut is hosting an educational event on rare diseases in the Student Union Building on the UConn main campus at Storrs, CT., from 11 a.m. to 1 p.m. on Sunday, Feb. 28. A NORD representative will speak, as well as students affected by rare diseases.

Children’s Hospital Boston Lobby Display

Meghan Connolly of The Manton Center for Orphan Disease Resesarch (Children’s Hospital Boston) has created a paper link chain with names of more than 350 rare diseases that do not currently have ongoing clinical trials. The chain is over 60 feet long and will be hung during the week before Rare Disease Day in the main lobby of Children’s Hospital Boston.

Raise Your Hand

Lundbeck Inc. launched a Raise Your Hand campaign to raise funds for research. Each time anyone clicks on the symbol, Lundbeck donates $1 to NORD’s general research fund, up to a total of $10,000. (This fund provides grants for study of diseases for which little or no other funding is available.) You can find the campaign right here on our home page.

Open House at NORD’s Danbury Offices

NORD will host an open house (all are invited) at its offices at 55 Kenosia Avenue, Danbury, CT, from 3 to 6 p.m. on Friday, Feb. 26. Displays will include a gallery of patient stories and photos submitted to NORD for Rare Disease Day. Tour the office. Meet the staff.

Flip Cam

Shire Pharmaceuticals has donated five “Flip-cams” to NORD, one for NORD’s own educational purposes and four to award to Rare Disease Day Partners in a contest. Patient organizations are invited to send a brief description of how they would use one of these camcorders to rarediseaseday@rarediseases.org to be included in this contest. Winning entries will be announced just before Rare Disease Day.

Research Hall of Fame to Launch

Rare Disease Day Partners have been nominating their favorite researchers to the Research Hall of Fame for 2010. The Hall of Fame will be launched just before Rare Disease Day. Information.

ViroPharma Lunch & Learn

ViroPharma Inc. has planned a Lunch & Learn for employees and guests at its offices near Philadelphia on Wednesday, Feb. 24. A NORD representative will speak about the needs of patients and families.

Rare Disease Day Open House in Michigan

The 2nd Annual Open House celebrating Rare Disease Day is set for Feb. 27 and jointly sponsored by MOPIXTV and Grand Traverse Area Library for Blind and Physically Handicapped. Open to all. Music. Refreshments. Michigan authors. Location: 813 Napolean Way, Traverse City, MI. Information: Sharon@mopixtc.com.

International Castleman’s Disease Organization Video Launch

The International Castleman’s Disease Organization (ICDO) will launch video footage from the 2009 International Castleman’s Disease Summit and host a live online event featuring a global panel of patients and physicians discussing diagnosis, treatment and management of Castleman’s disease.

Celebration of Hope

Genzyme Corporation will host an event called “Celebration of Hope” on the evening of Thursday, Feb. 25, at which it will launch an exhibit of artwork created by lysosomal storage diseases patients. The exhibit, “Expression of Hope II”, shares what it’s like to live with a lysosomal storage disease. A NORD representative will speak.

Glanzmann’s Research Foundation Awareness Day

On Sunday, Feb. 28, Glanzmann’s thrombasthenia patients and families will post information about GT and Rare Disease Day on the CureGT.com website and on their Facebook and Twitter pages. Send submissions to CureGT@comcast.net.

Stiff Person Syndrome Awareness

A member of the Stiff Person Syndrome Association plans to sit in front of her local Wal-Mart in Oklahoma with a sign providing information to all passersby about stiff person syndrome and Rare Disease Day.

Students Take on Rare Disease, One Jean Ribbon at a Time

More than 100 4-Hers will listen to Dr. Joy Sturtevant of Louisiana State University Health Sciences Center discuss biology, genes and genetics. (Dr. Sturtevant participated in 4-H as a child in New York.) The 4-Hers will make jean ribbons to wear and share for World Rare Disease Day. Information: hellocalhouns@bellsouth.net.

Mastocytosis Society Honors Rare Disease Day

The Mastocytosis Society has included information about mastocytosis in letters sent by its members to their state governors requesting Rare Disease Day proclamations. In addition, the society will provide free copies of its video, “Mast Cell Activation Symptomatology”, so that patients and families may take the video to their physicians. Information.

BioMarin

BioMarin Pharmaceutical Inc. will be sponsoring its 2nd Annual Rare Disease Day Celebration on Thursday, Feb. 25 in Novato, CA. The special events planned include the grand opening of the company’s new state-of-the-art manufacturing facility and a reception honoring patients living with rare diseases. A NORD representative will participate.

Sanford Burnham Institute

The Sanford-Burnham Medical Research Institute in San Diego will host the 1st Annual Sanford-Burnham Symposium on Rare Diseases: Collaborations that Drive Discovery, Therapy and Advocacy from 8:30 a.m. to 6:30 p.m. on Friday, Feb. 26. Details.

Alexion

Alexion Pharmaceuticals will host a Lunch & Learn for its staff, patients and families on Friday, Feb. 26. A NORD representative will speak.

Cushing Support and Research Foundation

The Cushing’s Support and Research Foundation is hosting its 2nd Annual Cushing Patient Awareness and Education Day on Saturday, Feb. 27, at the Marriott San Mateo in San Francisco. Several medical experts will speak. Details.

Radio Media Tour

A series of live radio interviews will take place on Friday, Feb. 25, to raise awareness across the U.S. of Rare Disease Day and why rare diseases are an important public health issue. A NORD Board member will speak.

Michigan State Medical Students to Launch Survey

Just before Rare Disease Day, four medical students at Michigan State University Medical School will launch a survey to provide updated information on perceptions of rare disease patients and families. Watch for additional information soon.

Preston’s genetic duplication manifested developmentally as Asperger’s syndrome. He doesn’t have the seizure disorder many of these children have, but he does have non-obstructive sleep apnea and is being treated for a mitochondrial disorder. He also has an Arnold Chiari malformation for which surgery is not currently an option, and a pineal cyst. He suffers daily from issues related to hypotonia (low muscle tone) and movement disorders, both during the daytime and while sleeping, and has difficulty writing, concentrating, tolerating exercise and regulating his own body temperature. In addition, he has multiple developmental, behavioral, and learning issues (expressive/receptive language disorder, sensory integration disorder, obsessive-compulsive tendencies, dyscalculia and Irlen Syndrome). That’s a lot for an active ten year old boy to deal with.

Victoria, or Tori as we call her, has a similar story. Her genetic duplication also manifested developmentally as Asperger’s Syndrome. She doesn’t have any issues with seizures, but does have non-obstructive sleep apnea. We’ll know in a month or so if she’ll need to begin treatment for a mitochondrial disorder. Like Preston, she too suffers daily from issues related to hypotonia, has difficulty writing, concentrating, tolerating exercise and regulating her own body temperature and has multiple developmental, behavioral, and learning issues (expressive/receptive language disorder, sensory integration disorder, obsessive-compulsive tendencies and huge anxiety issues). Life with this five year old girl brings challenges on a daily basis.

The hardest part of all this is no one quite knows what the future will hold for them. The 15q duplication is rare, but Preston and Tori have a paternally derived interstitial duplication that is even rarer. Our hopes are to help them learn to accommodate and cope in the real world and maybe someday that they’ll have the opportunity to take on the world. Those hopes, however, are tempered a bit by the looming probability that one or both will develop a seizure disorder by age 15 and the fact that the apnea and mitochondrial issues present a greater risk of sudden death.

Each day that I get up to two happy, mostly healthy faces I give thanks, and each night they sleep through from moonrise to sunrise, I pray to God that they’ll have yet another day to celebrate. Maybe someday, someone will figure out the magic pill or treatment to help kids like Preston and Tori grow up with fewer daily challenges. Maybe…

Read about Preston and Tori online at Caring Bridge.

[NORD thanks Desiree Byrne for sharing this story.]

Collin ended up at the Children’s Hospital in Milwaukee, Wisconsin for almost three months. He went into the ER and was admitted with a common respiratory virus, but ended up on life support. The doctors did not know what was wrong with him. They told me he would not survive. I was absolutely devastated!

After taking a biopsy from his thigh and running a camera throughout his entire body, Collin was diagnosed with Ehlers Danlos syndrome, type unknown. How scary it was for us to read up on this tissue disorder. All I knew was that I had to save my baby, no matter what.

When Collin was 12 years old I received a call from a geneticist at the University of Wisconsin in Madison stating that there was a new tissue disorder that had been discovered called Loeys Dietz Syndrome. Collin was tested for this condition but the results were negative. Dr. Dietz then requested a test for arterial tortuosity syndrome and this one came back positive. Only a handful of people worldwide have this rare isease and Collin is one of them. This was another devastating day for me as a parent. We have studied up on the disease, without much information to go on, and he is now a case in the medical journals. Hopefully he will be able to help others along their own hard journey with this condition. Here is more information about arterial tortuosity syndrome.

Collin is such a strong and remarkable child to have gone through so much in his short 14 years here with us. Collin has a positive attitude, despite his rare disease and limitations that are placed on such a young boy. He has a huge heart, tons of friends and is brilliant on top of it. Along with the arterial tortuosity syndrome, Collin faces some other issues such as, Tourette syndrome, multiple vascular vessels, and reactive airway disease, just to name a few. Collin has overcome the odds and has exceeded all of the obstacles that he has been faced with, which are too many to count.

My heart only wants the best for my son and the only way to help him is with awareness of rare diseases and from any knowledge we can gain by his experiences. I will always love my child, no matter what we have to face together!

[NORD thanks Collin's mom for sharing this story.]

But after six years of progressive pulmonary symptoms that led to a crippling deterioration of her health, Robin Akbar of Lafayette, LA received the most wonderful gift possible on her birthday in January, 2009 — a diagnosis.

“I was about 27 years old, living the all-American life. I had my health, my beautiful 7-year-old son, a career in medical staffing, and was making a fair salary when ‘It’ happened,” says Robin.

‘It’ was the development of wheezing, heart palpitations, shortness of breath, and symptoms similar to a sinus infection. Not having health insurance at the time, Robin went to a free clinic, where her “journey through the web of medicine and doctors” began. Despite numerous tests and various courses of medications, Robin’s symptoms did not abate.

“Finally I got health insurance and sought out my own private doctor. ‘This is my answer,’ I told myself. He’s going to take the necessary time, listen to me, and figure it out.” Robin went to this doctor on an almost weekly basis, and was taking as many as nine medications at one time, but there was still no relief of her symptoms.

Because she was working in a hospital, Robin learned which pulmonary specialist had the best reputation, so she made an appointment with him. By that time, a year into her illness, she had started coughing up blood. That highly respected pulmonary specialist performed a bronchoscopy and lung biopsy — but there was “nothing he could put his finger on.”

As more time passed, and having been “sent to doctor after doctor,” Robin began experiencing very severe breathlessness, “like a truck was on my chest.” The pulmonary specialist repeated tests, and felt that she had an “airway” problem, similar to asthma. Robin tearfully begged him to once again look in her lungs, but he refused, as he was certain that the problem wasn’t within her lungs.

Eventually, illness and severe exhaustion took its toll, causing Robin to lose her job and her home. Worst of all, she could no longer care for her young son, David, and ended up placing him in his father’s custody. Through her church she was able to find lodging at the home of a church member.

Robin heard of an expert physician in Houston, TX, who unfortunately did not accept health insurance. Robin was able to gather enough money for an initial consultation with this specialist, who performed more tests and another CT scan of her chest. The scan showed the development of opaque nodules and scar tissue in her lungs.

“So now I have ammunition,” Robin thought. “I’ll take this result to my pulmonologist and surely he’ll start looking in my lungs!”

To her dismay, her pulmonologist was not impressed with the CT scan results. He said, “It’s nothing to worry about.”

“I began to press him hard, using the little knowledge I had from the research I had done. He became irritable and said he’d repeat the CT scan in three weeks.” Finally, in tears in his office, Robin looked her pulmonologist in the eyes and said, “Something is wrong with my body — and if you don’t find it I’m going to die.”

Robin returned to the home of the person who, out of kindness, was allowing her to live with her, “…and cried until I was sick. I remember thinking of my son and how I wasn’t going to be there for him. Over and over again this played in my brain.”

In the midst of this crisis, Robin received a phone call from her pulmonologist’s office. “Through his nurse, he told me, ‘I only practice pulmonary medicine. Maybe you should go see a psychiatrist.’ So, just like that, one week before Christmas, 2008, I was without medications and a doctor.” Robin decided that, no matter what the outcome, she was going to try one last ditch effort before giving up.

“I learned about National Jewish Health in Denver, CO — arguably the number one respiratory hospital in the world. With no job and no real money, and savings dwindling, I began to pray for a miracle to get there and get a diagnosis. My then 11-year-old son prayed with me.

“In the meantime, I learned of a wonderful local internist who examined me and listened to my history for 1 ½ hours– with NO records in front of her. Her reaction was, ‘You’re not crazy.’ She gave me 4 possible diagnoses to take with me to National Jewish Health and a refill of the medications that my pulmonologist had left me without.

“I did get to Denver; and there received my diagnosis — Churg-Strauss syndrome.” This is a rare autoimmune disorder that leads to inflammation of small to medium-sized blood vessels. It is also referred to as Churg-Strauss vasculitis. If not caught early, the inflammatory process can cause damage to various organ systems, including the lungs.

“No, it’s not terminal, but it’s not curable either,” says Robin. Medical treatment with steroids and very careful monitoring will be needed.

The Denver physicians advised Robin that, “In about another six months I would have been dead due to the sheer stress on my cardiovascular system.”

Two months after Robin started treatment for Churg-Strauss syndrome, her son was able to move back in with her. In June 26, 2009, she signed a lease for a one-bedroom apartment in a complex that caters to people with disabilities. “David (my son) has the bedroom and I have the living room!” He is now 13, and already planning to go into the field of medical research.

David McCoy (left) and his mom, Robin Akbar, celebrating Christmas morning,
2009.

Robin wants to help promote Rare Disease Day, 2010, to raise awareness about Churg-Strauss syndrome. Robin also wants people to know that, “You have the right to consult and disagree (respectfully) with your doctors. You are not obligated to just accept a diagnosis because a particular physician is supposedly a specialist.”

Robin also wants to take this opportunity to thank the physicians who she credits with saving her life. “I want to pay special tribute to my local internist, Dr. Shameem Akhtar, who finally gave ear to me after all those years and gave thought to what I was saying rather than what was on paper. And I also want to praise the team of physicians at National Jewish Medical Center, led by Dr. Amy Olsen, for their diligent and successful efforts in making my diagnosis.

Robin has a final thought that she’d like to share. “To those who are struggling, searching and discouraged, don’t quit, you’re worth it, there is an answer and there is hope.”

In Robin’s own words, “What a birthday gift — LIFE!”

Rare Disease Day is a grassroots effort. You can help make it happen by doing things to raise awareness and help others to understand the issues. This is a day for every member of the rare disease community — patients, caregivers, and those seeking to develop new and better treatments — to join together on behalf of our common goals.

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