MY TURN

Falling Into a Medical Abyss

Living with a rare disease is a little like being an orphan. But one doctor has helped me find a home.

NEWSWEEK
From the magazine issue dated Jan 21, 2008

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  • Posted By: Mars2you2 @ 09/29/2008 3:35:13 AM

    Mark. What a wonderful article. Thank you so much. I have dreams of someday be able to raise so much awareness for AA that it too will become as commenly spoken of as cancer. I have had moderate (not severe) AA for 11 yrs. now, and just in the past 3 years or so, our fine Doc's at NIH have found that my "rare" form of the disease is more than likely genetic!! Which poses the problem that I am unable to be treated with immunosuppressive therapies, because my DNA will keep reproducing this mutated genetic gene that is causing the Bone Marrow to fail. I do have a BM match with my brother, but there again, not "positive" because it is genetic that if i recieve his bone marrow that it might all just come back.... to add a little icing on the cake, my (soon to be ex) husband, does NOT believe that I am sick, because I don't "LOOK' sick, and he feels that it is just a case of a LAZY wife. Amazing... i know, I guess that is why I am divorcing him!! haha. He is military, so he was rarely at any of my doctor appt.'s & never made it to a single one of my transfussions... Thank God I have a wonderful support from friends and family. Although, I am still a bit of a medical mystery as to why my disease has not become more agressive, despite an almost non-existant ANC, and a BM cellulartity of less than 5%, plus the bi-monthly blood transfussions (my WBC lingers a high 2, and HBG high 7's low 8's) I function pretty well, and am grateful everyday that I am able to wake up and function as a semi-normal person.
    I have been on disability for over 3 yrs., so I keep myself busy with Dr. appts. (of course) traveling back and forth to NIH (fm TX) and caring for my amazing daughter (that also has the mutated gene, but is not affected as of yet). Someday I will be healthy enough to raise that awareness like I'd like to, and make a difference like you have. Thank you again, and Godspeed.

  • Posted By: bjwcatlover @ 02/24/2008 8:22:10 PM

    I, too, have SAA. I have said many times it would have been 'easier' to have breast cancer and cut it off! I had two rounds of ATG, first horse, then rabbit and got to enjoy over a year without transfusions. My counts were WBC 2.5 HGB 11.7 and PLT 94,000. Last month, my counts began to fall again. White was 2, hgb was 10.7 and platelets dropped to 73,000. I go again on March 4th, (IBMT in Indianapolis) and am afraid they've dropped even lower. Lots of faigue. I get very tired of people saying " you dont look sick'. Not that i want to look bad, but no one really believes that i have a life threatening illness because no one has heard of it. Keep the faith!
    Barb, in Terre Haute, IN

  • Posted By: ahgreer @ 02/21/2008 8:45:24 AM

    I wanted to let you know that you "hit the head on the nail" when you said it would have been easier to have been told you have cancer. I don't have what you have, but I do have a very rare disease called necrobiotic xanthogranuloma. I have only found 1 person that I talk with and she lives in Australia. I am a human ginny pig, but yet I have to pay for this. Seeing insurance companies don't pay for treatments that have not been FDA approved for something.
    Anyways, I just want to commend you for your article, that was so well writen.
    Living with nxg in Mississippi,
    Angela

  • Posted By: Survivor-mi50 @ 02/10/2008 1:15:06 PM

    One caveat, having had cancer, twice, it was easier that this "PPS," because of the Team approach in medicine. My oncologist, and the rest of the team members, always met with me, and we worked together on the "next step," which evidenced progress. Without J R Bach, MD, Dr. Richard L. Bruno, Post-Polio Health International, and our support groups, I'd be dead by now of "the late-effects" of Polio which I worked so hard to survive when I was 10 years old. The medical world better be prepared, because all serious viruses are causing such break downs in our immune systems. Bravo to you for opening this critically needed discussion.

  • Posted By: Survivor-mi50 @ 02/10/2008 1:08:44 PM

    My heart goes out to you. Having had Polio as a child, I've encountered a vacuum of education in the medical profession when they just won't consult with NIH, or the world experts (which I had to find!), to learn about the late effects of Polio, including horrific breathing disorders later in life. When repeated errors in care throw us into worsened conditions until we're terrified of seeking medical help, something is seriously wrong. Without support from our peers, who also seek, suffer, and find, we are doomed. You have my thoughts--stay with NIH - its the best gift to the world!

  • Posted By: bzbea316 @ 02/09/2008 2:30:42 PM

    This article was extremely interesting to me. I had sever aplastic anemia with a hemaglobin level of 3 when I entered the hospital. This July will be my 29th anniversary of having a successful bone marrow transplant performed at UCLA! I was one of the most fortunate, because I was blessed with an identical twin sister, who was able to provide me with her life-saving bone marrow. I was 25 years old at the time. Since the transplant, I have been able to live a healthy life and raised 4 boys. Miracles do happen! Best of luck to you, Joe. Keep thinking positive!
    Bea Iamurri - bzbea316@aol.com

  • Posted By: jpearce @ 02/07/2008 8:44:26 PM

    Hey its Jeremy Again. I did however go to the National Institute of Health in Maryland as well. Last year was my first trip. It wasn't too long after my last ATG treatment in 2006. I felt good enough to take a tour of washington D.C. which was a must. It is very important (like the comment below from jhkennedy) to visit the NIH institute if you have Aplastic Anemia or any similar diseases. That is where the specialist are for these rare blood illnesses. I saw Dr. Neil Young...Not the Folk rocker..hehe, but a pioneer in the AA world. He was extremely helpful and informative of my most recent mishap with PNH. And yes, from what I have read you can receive financial assistance from the aplastice anemia foundation to help with any costs for your initial trip. You may go back but I didn't. I took one trip for a day there for them to get all of my labs and info. If you are a good candidate for any of their treatments available, they will recommend one of the treatment options. Most likely you may be taking a few trips out there for the any intensive treatments. On top of everything, they treat you very well, are kind and understanding. If you are new to AA, PNH, or MDS, definately should consider this trip in the near future. Thanks.
    Jeremy Pearce

    • Posted By: douglasp @ 02/09/2008 9:20:00 AM

      Hey Jeremy, It's your pop. This is a great article and a great venue for you to help others that are going thru the same anxiety that you endured in the "early days". As you know, positive attitudes and blessings are at least 50% of what pulls you thru.

      Love always !

  • Posted By: jackiejo_nederlanden @ 01/26/2008 6:06:46 PM

    Hello Mr. Schreiber, and thanks so much for the article. Almost two weeks ago I had my bone marrow sample taken, and last Monday I was told the doctors were unsure whether I had Aplastic Anemia or a chemical insult on my bone marrow. They started me on prednisone (which has, in this past week, rendered me unable to concentrate on my classes or attend work as usual), which I'm hoping will help things. I will be on it for a month as a diagnostic test, and I'm desperately hoping that it helps. I turn nineteen in less than a week, and am attending a small university in rural Texas, far away from any clinics that may be able to help if it turns out to be AA. I know little about the disease, but I'm very thankful for the comments and links placed by others. It's good to know there ARE others out there that have been through this.

    Thanks again,
    jacklyn.

    • Posted By: jhkennedy @ 02/02/2008 3:03:05 AM

      Hey, I'm currently 19 as well, and was diagnosed with severe aplastic anemia last june, if it turns out you do have AA i would highly recommend going to the National Institutes Of Health in Bethesda, Maryland. It's where I went for treatment in September and now my counts are way up and I'm back in school. If you go you would become a part of a study so they pay for EVERYTHING, airfare, all your meds, treatment, and they follow your health for the rest of your life. Dr. Young and Dr.Scheinberg are the two big shots in the AA world and they would be your doctors, heres Dr. Scheinbergs email address, scheinbp.nhlbi.nih.gov, he can answer your questions or set up an appointment for you.
      Hope this helps, Joe
      feel free to email me if you have any questions jhkennedy1@bama.ua.edu

    • Posted By: jhkennedy @ 02/02/2008 3:01:09 AM

      Hey, I'm currently 19 as well, and was diagnosed with severe aplastic anemia last june, if it turns out you do have AA i would highly recommend going to the National Institutes Of Health in Bethesda, Maryland. It's where I went for treatment in September and now my counts are way up and I'm back in school. If you go you would become a part of a study so they pay for EVERYTHING, airfare, all your meds, treatment, and they follow your health for the rest of your life. Dr. Young and Dr.Scheinberg are the two big shots in the AA world and they would be your doctors, heres Dr. Scheinbergs email address, scheinbp.nhlbi.nih.gov, he can answer your questions or set up an appointment for you.
      Hope this helps, Joe
      feel free to email me if you have any questions jhkennedy1@bama.ua.edu

  • Posted By: Ikey @ 01/29/2008 10:02:16 PM

    In August of 2007 our 17 y/o son was diagnosed with Very Severe Aplastic Anemia. His siblings were not matched bone marrow doners and we were skeptical of immunosuppressive therapy because the potential for PNH, MDS, leukemia and/or relapse seemed inevitable. We read research on High Dose Cyclophosphamide Therapy pioneered at Johns Hopkins Hospital in an article by Robert Brodsky. (http://www.annals.org/cgi/content/abstract/135/7/477) It gave us hope. Through a series of hoops and miracles we were able to spend 7 weeks in Baltimore for treatment and follow-up. The High-Cy basically destroys the immune system (it is also used to condition a patient prior to a bone marrow transplant) and then the body basically "reboots" the blood making factory in the bone marrow. The response rate is about 70%. It has a potentially lengthy recovery time during which the patient is prone to infection. Often it takes 1-3 years to recover counts; my son had a quick recovery - within 35 days he had recovered an ANC of 500+ and had no more transfusions of
    blood products. We have tasted the bitterness of Aplastic Anemia. We have walked the trail, although, praise the Lord, it was briefly. We dared to try an innovative treatment (four hematologists discouraged us from pursing it) and the Lord has blessed. It's not for everyone, but this treatment deserves consideration.

    • Posted By: aquarius40 @ 01/30/2008 11:17:30 PM

      Thank you for providing information on Cytoxan. I did the treatment at Johns Hopkins in late 1999 and I have had normal counts for years. It irks me that the AAMDS continues to discourage the sharing of information on this treatment. I am glad your son is doing well. I know of many people personally who share his success with Cytoxan, myself included!

  • Posted By: Dorirod @ 01/24/2008 8:15:53 AM

    I know EXACTLY what you are talking about! My 16 year old son has a rare auto-immune disease that they don't know much about. Also using immunosupressives and prednisone, wandering aimlessly in the medical research world are his doctors. They also are willing to see him immediately and are fascinated by his disease like he's a freak show. We hate it. Incidentally, we are traveling to the Cleveland Clinic on Feb. 7th from Homestead, Fl. for a second opinion. He has also said that he wishes he'd had something more common like Cancer. Thanks for your article.

    • Posted By: aquarius40 @ 01/30/2008 11:12:35 PM

      Dorirod, I hope you will consider looking into other options besides ATG if your son is not a candidate for bone marrow transplant. Cytoxan is the treatment the Aplastic Anemia Association doesn't want anyone to know about. Why? Because it works better than ATG - no relapse! When people are cured, they don't need the AAMDS organization anymore.

  • Posted By: jpearce @ 01/26/2008 8:15:56 PM

    I would like to add that I was diagnosed with avascular necrosis in 2002. I was living in a world of pain and decided to go through with bi-lateral hip replacements. After rehabilitating my hips all has been well, and I'm living a good quality life. The orthopaedic doctors have found evidence of it in my knees. Not that it spreads, but that my knees were affected by the cause just as much as my hip joints. The cause is unknown, but 2 possibilities are reactions from 2 particular drugs that were prednisone and cyclosporine(steriods, immunosuppressant) Excellent Article Mr. Schreiber. I am excited to meet some new folks who I'll have a lot in common with...finally! Also the aplastic anemia foundation is an incredible resource and I've tried to stay involved ever since my diagnosis of severe aplastic anemia in 2000. Thanks and looking forward to talking with all of you!

    Jeremy D Pearce

  • Posted By: jpearce @ 01/26/2008 7:52:05 PM

    My name is Jeremy Pearce and I am 26 years old. I have lived with aplastic anemia for 8 years. I have been diagnosed with other illnesses such as MDS and PNH which are associated with AA. I have a lot to share with others who have been through all this , especially at a younger age. Its been one heck of a rollercoaster. Please do not hesitate to send me an email for any questions or comments...(jeremypkc@yahoo.com) Thanks!

  • Posted By: bmarcus955 @ 01/25/2008 4:38:45 PM

    As the patient educator for the Aplastic Anemia and MDS International Foundation (www.aamds.org), I understand how important it is for people affected by aplastic anemia and other rare bone marrow failure diseases like myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemogloburnia (PNH) to get support from other patients and caregivers who know what they are going through. Our global support network of volunteers http://www.aplastic.org/aplastic/information__hope/global_volunteer_net/ was created specifically to fill that need. Anyone???patients and caregivers???who would like support from one of the volunteers in our global support network can call 800-747-2820 or 410-867-0242 or email clark@aamds.org. I can match you with someone who can help you deal with your treatment experiences, the physical and lifestyle challenges, and the emotional aspects of having a rare disorder.

    The AA and MDSIF also provides free educational materials, publishes a free newsletter and eBulletins, funds research around the country, advocates for patients on Capitol Hill and with government agencies, and hosts an annual patient and family conference where patients can learn the latest in research advances and treatment options as well as connect with others. (The 2008 conference will be held outside Washington, DC July 27-29 with an Advocacy Day on Capitol Hill on July 30; more information will be in our eBulletins and on our website.) We welcome your questions, thoughts, and ideas: the Foundation is here to give you answers, support, and hope.

    Leigh Clark

  • Posted By: JillM @ 01/25/2008 4:26:23 PM

    It's amazing to read about so many people going through the same thing that I am. Sometimes I feel Iike I'm probably the only person in my whole city with aplastic anemia. I am 25 years old and was just diagnosed in September 2007. I went to the doctor for nose bleeds and then my whole life crashed around me in the weeks to follow. At least that's how it felt then. Reading medical information about AA is not comforting, but reading other people's experiences certainly is. There is always hope. I underwent ATG treatment and am now in my 4th month on cyclosporine. My counts are just now starting to show improvement and I can only pray that they continue to do so. Otherwise, I am luckly enough to have 2 matches in the bone marrow registry for possible transplant. No matter how hard the people around you try to understand they just can't. It's wonderful to find others going through the same thing and I wish everyone the best.
    Jill

  • Posted By: petebosox @ 01/24/2008 1:59:54 PM

    Hello Mark and all Aplastics
    I enjoyed the article.
    I was diagnosed approximately 15 years ago at the Cleveland Clinic and since that time in the old S and T building, knocked down for newer buildings, I have called " The Clinic " my doctor. I attended a few national conferences at the beginning and talked to many other people with the same condition. It is difficult being a nonperson in Orwellian terms, but there are resources available along with hope. I was not going to write anything in response to your article at first, because of the pressure put on by so called professionals in this field. I travel like you, but not as far, 30-40 miles away from the Clinic. I also traveled at first to many other places across the country searching for answers. I wish you luck and hope along with all other aplastics whether acquired or idopathic and especially the children. I am 50 now and maybe one day I'll attend again a national conference. If you happen to come up this way to the " Clinic " look for the Yeti, since even Dr. M can't believe I still travel around ( keep a sense of humor because it is as bad as they say ).
    Thank you again for putting something in a national publication and maybe people will realise stem cell research will help so many with diaganosed conditions of cancer, leukemia, myodysplasia, aplastic anemia, and so and so on.

  • Posted By: petebosox @ 01/24/2008 1:53:42 PM

    Hello Mark and all Aplastics
    I enjoyed the article.
    I was diagnosed approximately 15 years ago at the Cleveland Clinic and since that time in the old S and T building, knocked down for newer buildings, I have called " The Clinic " my doctor. I attended a few national conferences at the beginning and talked to many other people with the same condition. It is difficult being a nonperson in Orwellian terms, but there are resources available along with hope. I was not going to write anything in response to your article at first, because of the pressure put on by so called professionals in this field. I travel like you, but not as far, 30-40 miles away from the Clinic. I also traveled at first to many other places across the country searching for answers. I wish you luck and hope along with all other aplastics whether acquired or idopathic and especially the children. I am 50 now and maybe one day I'll attend again a national conference. If you happen to come up this way to the " Clinic " look for the Yeti, since even Dr. M can't believe I still travel around ( keep a sense of humor because it is as bad as they say ).
    Thank you again for putting something in a national publication and maybe people will realise stem cell research will help so many with diaganosed conditions of cancer, leukemia, myodysplasia, aplastic anemia, and so and so on.

  • Posted By: bmarcus955 @ 01/23/2008 12:20:23 PM

    You can contact www.aamds.org for more information

  • Posted By: RuthLA @ 01/18/2008 1:05:46 AM

    Hi Mark. I too felt like an orphan when I was diagnosed with aplastic anemia. I was treated at a major cancer center and I was the only aplastic anemia patient in the entire center. Like you, I looked fine from the outside, and it was hard to explain how this rare bone marrow failure disease made me feel so lousy.

    I was one of the lucky patients who, after immunosuppression, steroids, and other treatments, was cured by a transplant from a stranger willing to donate bone marrow to me. Other patients don't have matches or have not found effective treatments, and more research and drug trials are needed to improve treatments and find a cure.

    When I first got sick, it was many months before I met another patient with the same disease. I had to go online to find an email support group. After I was cured, I started helping patients myself; it's something I feel I owe for the help and support that others gave me. Now I've set up a website (with help from two caregivers, one of them my husband) for patients with aplastic anemia and related bone marrow failure diseases. It's called Marrowforums.org and it helps us feel less like orphans as we trade stories, advice, and support, and make friends.

    The best help comes from our doctors, of course. I've met Dr. Maciejewski, and I have nothing but admiration for him. You are in great hands, Mark. The physicians and researches who study bone marrow failure are some of the most dedicated doctors I've ever met.

    • Posted By: mark schreiber @ 01/23/2008 3:21:54 AM

      Hi RuthLA - thanks for setting up Marrowforums.org. I have read it and I suggest it to other patients and families. Maybe I'll see you at the next AAMDS conference. - Mark

  • Posted By: mark schreiber @ 01/23/2008 2:31:11 AM

    While I can't respond to everyone individually here, I appreciate your comments and your sharing your own stories. If anyone wants to reach me directly my e-mail is msch912@aol.com. Thanks again for reading the essay.
    -Mark Schreiber

  • Posted By: heathervega @ 01/21/2008 12:31:17 PM

    Mark-
    So nice to read your article. Just briefly wanted to tell you- things WILL get better. I think that was something I needed to hear when I was diagnosed over 3 years ago and things were looking so grim. Over the years I've learned how precious life is, and try to remember each day how lucky I am to still be here. Since being in "remission" I've had two children and went back to my job as a doctor after being hospitalized for a week on the ATG, steroids, and cyclosporine. It was a very slow process, but my blood counts are finally back to normal. Sometimes I think of that as a blessing, it truly put things into perspective. May you continue to do well, my prayers are with you.

    • Posted By: mark schreiber @ 01/23/2008 2:27:43 AM

      I want to thank everyone for reading my essay. I appreciate your comments and support. While it is distressing to read what patients have endured, I can say that I'm proud to be part of the aplastic anemia community, because those of you whom I've met or whose posts I';ve read here or on the forums, have dealt so courageously with this disease and have overcome great obstacles in surviving it.

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