"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.