Surviving the Odds: That would be my son, Collin. I was there when he was born. I watched him bite the doctor on his finger and thought he was a funny little baby. I adopted him two weeks later. This beautiful baby boy was meant to be with me. I was overjoyed with my new child. He was perfect in every way. That is, until he got sick at around three months old.

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.]

Learning that you have a rare, incurable illness is not usually anyone’s idea of a terrific birthday present.

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!”

Cindy L. Abbott has a big dream and—she fears—limited time to make it happen. The health sciences lecturer at Cal State Fullerton wants to climb Mount Everest but has a serious progressive disease known as Wegener’s granulomatosis. Abbott first became aware of her medical problem when she lost the vision in her left eye. Now, she lives with the knowledge that her disease could put an end to her ability to do the things she loves, which include mountaineering and scuba-diving. She wants to accomplish her dream of climbing Everest before that happens. She also wants to raise awareness of Wegener’s granulomatosis and raise funds for research through the Vasculitis Foundation. To do this, she has teamed up with NORD to promote Rare Disease Day and related activities.

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