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.”

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!”

Read her story.

Visit her blog.

Cindy at camp, Mt. Baldy — Photo by Scott Woolums

Cindy at the summit, Mt. Baldy in southern California, Jan 31 2010

Martha was visiting the Hoover Dam when she had what appeared to be a grand mal seizure. Neurological testing came back negative, so she and her physician hoped it was a one-time event. Soon afterward, however, Martha began to notice that she often felt faint when eating. After the first few bites, she would “swoon”, nearly black out, and then feel fine again. It happened so frequently that she developed a coping mechanism: “I would lower my head as soon as I began to feel lightheaded,” Martha says. “My husband and co-workers became accustomed to seeing me go through this strange ritual during meals.” Eventually, Martha did begin to black out briefly and then she had a second seizure. Although she was initially given a diagnosis of epilepsy, the pieces of the puzzle just didn’t seem to fit together. One day, Martha happened upon the website of the STARS organization and that was the beginning of her journey to a correct diagnosis. Eventually, she learned that she had a condition known as “swallowing syncope”, a rare problem in which the act of swallowing triggers a chain of events that causes the heart to stop beating briefly. A pacemaker stopped the symptoms completely. Martha shared her story with NORD for Rare Disease Day 2009. Since then, she has been featured in a story in the Washington Post and an episode of the Mystery Diagnosis TV show. Martha hopes that telling her story may help others obtain a correct diagnosis with less delay.

If you would like to submit a story, send us an email. Here are some things you might want to include:

• What process did you (or your child) go through in order to receive a diagnosis?
• What problems/challenges do you (or your child) experience as a result of your condition?
• How do you cope with the challenges you (or your child) face?
• What are your hopes for the future?
• Is there a message that you’d like to impart to others who are struggling with a rare disorder?

We won’t be able to publish everyone’s story. If you’d like to join the conversation, check us out on Facebook and Twitter!