"Orphan" Diseases Find Hope Through Adopted "Families"

Being diagnosed with a life-threatening disease must be one of the most traumatic events in a person's life. The reassurance that research is continually finding new ways to control or cure this disease can ease feelings of sadness and uncertainty.

Imagine, then, learning that you have an "orphan disease," one that is rare and receives little direct funding for research. What is known about this disease? Is it brought on by environmental or internal conditions? How is it best treated? Is there a cure?

Aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH) are orphan diseases. They are noncontagious, life-threatening illnesses together known as bone marrow diseases. Within a body's bone marrow, blood-forming stem cells produce red and white blood cells and platelets. When production is disturbed, problems can occur, such as severe anemia, infections and the inability for blood to properly clot.

If you aren't familiar with the names of the particular bone marrow diseases, it is probably because they are very rare. Approximately four new cases of aplastic anemia per one million people in the United States arise each year, for example. Nevertheless, you probably have heard of some of the people who have fallen victim to a bone marrow disease: According to the Aplastic Anemia and MDS International Foundation, former Senator Paul Tsongas of Massachusetts, former Congressman Robert Matsui of California and writer Susan Sontag all died from complications related to MDS.

The only known "cure" for a bone marrow disease is a bone marrow transplant, but a patient must find a suitable donor. Even then, the body's system can choose to reject the transplant, causing further complications.

It's no wonder that many people with bone marrow diseases express frustration. Writer Mark Schreiber described his personal struggles in a January 2008 issue of Newsweek. "During my first trip to the oncology ward--oncology because there are no wards for aplastic anemia--four successive roommates, all leukemia patients, returned to their lives after receiving treatment while I stayed and reflected on mine...When you're an orphan you envy people with families, even such horrific families as cancer."

In the midst of Schreiber's grief over being diagnosed with an orphan disease, he found a father figure of sorts: Dr. Jaroslaw Maciejewski, a researcher at the Cleveland Clinic. The Polish-born Dr. Maciejewski (pronounced ma-SHEFF-ski) is head of the Experimental Hematology and Hematopoiesis Section of the Clinic's Taussig Cancer Center, and his specialty interests revolve around bone marrow failure syndromes such as aplastic anemia, MDS and PNH.

Dr. Maciejewski is currently working on a study to investigate the viral causes of aplastic anemia.There is a great deal of evidence that at least a proportion of cases of aplastic anemia can be triggered by a virus that is as of yet unknown. In this study, bone marrow failure researchers will use a "viral chip" containing little pieces of DNA to identify a virus responsible for aplastic anemia and ultimately develop diagnostic, therapeutic and preventive measures.

The results of the study could prove beneficial to a variety of diseases, according to the doctor. "This could have a tremendous impact...on the improvement of care across the board of all [bone marrow failure] diseases," he says.

While the study brings hope to people like Schreiber, Dr. Maciejewski cautions that results may not be immediate. "Science is all about delayed gratification," he says. "The value could be quickly obtained, but it could result in a scientific lead that needs to be followed for years."

Those affected by bone marrow diseases understand what the doctor is saying; they also know that this study provides a great opportunity to get out of the "orphan" stage and determine real ways to fight the illnesses.

Two people who passionately believe in Dr. Maciejewski's work are Jeff and Sherri Kitzberger of Cleveland Heights, Ohio. Their youngest daughter, Annalyse, was diagnosed with aplastic anemia and PNH when she was five years old. She endured chemo and missed out on most of her kindergarten year.

Three years later, Annalyse acts like your average eight year old. She plays soccer, sells Girl Scout cookies and dreams of some day owning a dog. But the aplastic anemia and PNH that dragged down her immune system when she was five could rear their ugly heads again without warning. Every bruise or bump on Annalyse's body, every sore throat or persistent cough is a cause for concern for the Kitzbergers. With the help of Dr. Maciejewski and other doctors at the Clinic, the Kitzbergers feel less like "orphans" and more like part of a family of caring practitioners.

To lend support to the viral chip study, and raise awareness of bone marrow diseases, the Kitzbergers created Jungle Jam, a benefit taking place Friday, October 17 at Cleveland House of Blues. Five local bands will play: Blues de Ville, Eclyptic, Heart and Soul, Horizontal Party and Rusnak Jarrett Jazz. There will be an auction, hors d'oeuvres and drinks. Proceeds from Jungle Jam will go directly to Dr. Maciejewski's viral chip study.

In creating this benefit, the Kitzbergers have embraced all people diagnosed with bone marrow diseases, thus expanding the network of care, compassion and education. In their way, the Kitzbergers are helping to remove the "orphan" stigma from these diseases, with the hopes of someday completely wiping them off the map.

You have an opportunity to be part of the "adoptive family" for those with bone marrow diseases. Tickets for Jungle Jam are still on sale. You can also make a donation. For information, call Sherri Kitzberger at 216.312.3109, or visit www.makeithappen4bmd.org.

Life in a Dying Town

Yesterday, my family had a great brunch at a restaurant in Cleveland's Tremont section. Across the street, a small farmer's market attracted passers-by with its fresh produce. On our way back through the city, we passed the Great Lakes Science Center and the Rock and Roll Hall of Fame and Museum, then pulled off the Shoreway to watch part of the Cleveland Air Show. Much to our delight, five parachuters drifted down to the lakefront airport leaving streams of red and green smoke in their path.

Finally heading home, we saw the Cleveland Museum of Art, the Natural History Museum, the Western Reserve Historical Society and the Cleveland Botanical Gardens. Our car climbed the steep hill through Little Italy, where dozens of people strolled in and out of cafes, restaurants and shops.

Yes, it's good to be living in one of America's fastest-decaying cities.

According to Forbes Magazine, Cleveland is among a handful of cities dying before our very eyes. Indeed, the city has problems. The poor keep getting poorer, brain drain is a major concern and development downtown isn't what it could be. But if any city has the strong bones on which to build--or rebuild--a thriving metropolis, it's Cleveland. 

In addition to the aforementioned museums, Cleveland has a world-renowned orchestra and a beautiful string of green space known as the Metroparks. The city is a leader in biotechnology and with any luck will in the near future be home to a state-of-the-art Medical Mart. Two major hospitals (Cleveland Clinic and University Hospitals of Cleveland) call Cleveland home.

There's a lot going on here.

You may think, oh she's just a poor local who never made it out of Northeast Ohio and feels the need to be a cheerleader for the area. Au contraire mon frere.

I lived in Manhattan and just outside of New York City for ten years. Now there's a place that certainly isn't dying. 

But here's the problem: I was usually too poor to afford most of the activities that the city had to offer. I lived near the theaters my first few years in New York, but during those extremely lean times I never had enough money to actually take in a show. In summers, as asphalt practically oozed beneath my feet, I watched people high-tail it out of the city for the Hamptons while I ran to the local corner deli to cool off by sticking my head inside one of the frozen food cases. 

During my last couple of years in the city, I eschewed fancy dinners and out-of-town trips so that I could pay a ridiculous price for a tiny two-bedroom apartment with a bath tub in the kitchen and a family of mice that taunted me as I watched television. As much as I loved New York, I also regretted that I never made enough money to make it mine.

By the time I'd lived in Cleveland for a year, I'd seen a couple of Broadway plays, visited the Rock Hall a half-dozen times, gone to the beach and had some lovely meals. What's more, when I walked the streets, there weren't seven million people on top of me. There's space here, and it feels good.

The point is that quality of life in a city can't be measured against what other cities have to offer. Cleveland is no New York or Chicago, and no one here wants it to be. If Cleveland ever got too big for its britches (and the chances of that happening are slim to none), the locals would revolt. For as much as we want big industry, brand-new construction and high-end amenities, we also want walkable neighborhoods, courteous drivers and small-town values.

Cleveland needs work, and that work needs to start immediately. But first we need to fully appreciate what we already have. My gut feeling is that Cleveland isn't dying; it's just sleeping. Unlike New York, other cities take a nap once in awhile. Now it's time to wake up and build on what we've got. I'd like to see more activity on the lakefront and more shops and businesses downtown, among other things. Can we turn that dream into a reality?