Recently Diagnosed with PNH

[Tony123]

Hello, just recently diagnosed with PNH as of 4 hours ago from this post. I read the forums a little bit before I had the test and just received the results. I'm 28 years old my original diagnosis was an Iron deficiency anemia, in december 2017, my HgB was at a 7.6 at the lowest and is currently at a 9.8 but it seems to have capped out.

I thought I had PNH through all my research and I've been told the the online data about PNH is out dated and now with treatment or a BMT it is possible to live a "normal" life according to my doctor. I'm not sure if that is just BS to make me feel better or if it really is possible.

Anyway I thought I would just say hello and introduce myself. Any questions feel free to ask or words of encouragement would be appreciated.

[Neil Cuadra]

Welcome Tony.

You're doing the right thing by seeking information, making contacts, and asking questions. With such a rare disease you need to take advantage of the available resources. I have three suggestions for you.

First, learn what you can at these websites, or other trustworthy sites you find:

• Aplastic Anemia & MDS International Foundation (AAMDS)
  
  
• Canadian Association of PNH Patients
  
  
• National Organization for Rare Disorders (NORD)
  
  
• PNH Support Association of Australia

Second, order the free educational materials (a set of booklets) on PNH, Clinical Trials, and Bone Marrow and Stem Cell Transplantation from the AAMDS.

Third, find a physician who is a PNH specialist. Since every PNH patient is different, there's both art and science to proper treatment, and not every hematologist knows how to treat PNH. Some names on the PNH Physician List at the PNH Support Group website may be out-of-date, but you can inquire at local treatment centers or get help from the AAMDSIF (help@aamds.org or 800-747-2820). If you don't find someone with expertise locally, I'd travel to another city to find the right specialist, at least for a consultation.

Many people live mostly normal lives with PNH. The drug named eculizumab (trade name Soliris) has made a remarkable difference for many patients, and other clinical trials continue. I have a friend who's had PNH for over 30 years. But PNH can be dangerous, so it can't be ignored.

The information you read online can be comforting or inspirational (see one patient's story, for example) or can be scary (e.g., dismal survival statistics for some types of bone marrow failure). I've found that information you find online often doesn't represent the current state of the art. For example, current clinical trials or the latest treatment techniques may not yet be reported or reflected in statistics, and older reports based on past results may be just as likely to show up in a search. Working with your physician, you can assess your unique situation.

Good luck.

[GoodDay5150]

Hey Tony, we are all sorry to hear that you have PNH. I was probably around your age when I 1st started having symptoms but was never diagnosed until a long time later when I could no longer ignore the symptoms. I did not research my disease until after I was diagnosed. I had a blood test done in 2011 and the dr himself called me to tell me the results. I super low HGB and RBC'S. I could tell he was pretty freaked out. I met with a specialist in short order and then had a bunch of tests done, BMB, etc. That dr emailed me saying that he was worried that I have PNH. He was right. He was going to treat me w/ SOLIRIS but then changed his mind, primarily bcse he had only treated 1-2 other patents w/ it. (this was in 2011)I actually met one of the people at a PNH conference who was part of the trial. Anyway, it was determined by him and a specialty clinic that I was a good candidate for a transplant, and a donor was found pretty quickly. I am actually part of this study


http://www.bloodjournal.org/content/...o-checked=true

pretty crazy, I know. As far as myself, I had debilitating fatigue, severe headaches and abdominal pain, etc etc. My disease progression got worse and worse the closer I was to being diagnosed, so I was pretty relieved to know that something could be done. I have a lot of posts here, and we are all willing to help you out w/ any questions you may have.

Mario

[Tony123]

Originally Posted by Neil Cuadra

Welcome Tony.

You're doing the right thing by seeking information, making contacts, and asking questions. With such a rare disease you need to take advantage of the available resources. I have three suggestions for you.

First, learn what you can at these websites, or other trustworthy sites you find:

• Aplastic Anemia & MDS International Foundation (AAMDS)
  
  
• Canadian Association of PNH Patients
  
  
• National Organization for Rare Disorders (NORD)
  
  
• PNH Support Association of Australia

Second, order the free educational materials (a set of booklets) on PNH, Clinical Trials, and Bone Marrow and Stem Cell Transplantation from the AAMDS.

Third, find a physician who is a PNH specialist. Since every PNH patient is different, there's both art and science to proper treatment, and not every hematologist knows how to treat PNH. Some names on the PNH Physician List at the PNH Support Group website may be out-of-date, but you can inquire at local treatment centers or get help from the AAMDSIF (help@aamds.org or 800-747-2820). If you don't find someone with expertise locally, I'd travel to another city to find the right specialist, at least for a consultation.

Many people live mostly normal lives with PNH. The drug named eculizumab (trade name Soliris) has made a remarkable difference for many patients, and other clinical trials continue. I have a friend who's had PNH for over 30 years. But PNH can be dangerous, so it can't be ignored.

The information you read online can be comforting or inspirational (see one patient's story, for example) or can be scary (e.g., dismal survival statistics for some types of bone marrow failure). I've found that information you find online often doesn't represent the current state of the art. For example, current clinical trials or the latest treatment techniques may not yet be reported or reflected in statistics, and older reports based on past results may be just as likely to show up in a search. Working with your physician, you can assess your unique situation.

Good luck.

Thank you, I ordered the free educational materials as well as left a message on the voicemail of the number you provided so hopefully I can hear back from them soon. I have also read about Soliris and a BMT, it seems split as to which is the best option. I have 2 appointments scheduled and trying to get a 3rd in Boston so hopefully the doctors can see what the best option for me is so I feel comfortable with what ever decision I choose moving forward.

Originally Posted by GoodDay5150

Hey Tony, we are all sorry to hear that you have PNH. I was probably around your age when I 1st started having symptoms but was never diagnosed until a long time later when I could no longer ignore the symptoms. I did not research my disease until after I was diagnosed. I had a blood test done in 2011 and the dr himself called me to tell me the results. I super low HGB and RBC'S. I could tell he was pretty freaked out. I met with a specialist in short order and then had a bunch of tests done, BMB, etc. That dr emailed me saying that he was worried that I have PNH. He was right. He was going to treat me w/ SOLIRIS but then changed his mind, primarily bcse he had only treated 1-2 other patents w/ it. (this was in 2011)I actually met one of the people at a PNH conference who was part of the trial. Anyway, it was determined by him and a specialty clinic that I was a good candidate for a transplant, and a donor was found pretty quickly. I am actually part of this study


http://www.bloodjournal.org/content/...o-checked=true

pretty crazy, I know. As far as myself, I had debilitating fatigue, severe headaches and abdominal pain, etc etc. My disease progression got worse and worse the closer I was to being diagnosed, so I was pretty relieved to know that something could be done. I have a lot of posts here, and we are all willing to help you out w/ any questions you may have.

Mario

Thank you for your response, yeah I was feeling super depressed and fatigued as well as headaches which is why I originally went to the doctor to get stuff looked at. My symptoms have probably gotten worse since I got the test to see if I have PNH because everything I read up on was pretty cryptic so I'm not sure if it is the stress or what. My current hematologist has 2 other PNH patients with me being her 3rd. She helped schedule me with a PNH specialist at UPenn in Philadelphia because it seemed like the best option for me according to her was to try Soliris but of course wants me to explore the other options. As of now all I know is I do not have Leukemia or Aplastic Anemia only the PNH.

I know it will be hard moving forward but at the moment I feel kind of... lost. I tried to explain to my friends and family how I feel and the possible treatment options but it is hard to listen to what they say since they aren't the ones going through it or have experienced it.

[Sally C]

Dear Tony,
It is never easy when faced with a serious disease - for anyone. But if the only way to show love, compassion and understanding is to have experienced it - no one would be able to draw strength from their loved ones. They may not be saying the right thing - if there is such a thing - but what you aren't hearing is they are expressing their love. How Blessed you are to have so many who are so concerned about you. It's hard on you but it's also hard on them because they love you. For me it was harder to be the caretaker than the patient - I've been both. Let them love you - and be sure to love them back.
All the best,
Sally

[Tony123]

Originally Posted by Sally C

Dear Tony,
It is never easy when faced with a serious disease - for anyone. But if the only way to show love, compassion and understanding is to have experienced it - no one would be able to draw strength from their loved ones. They may not be saying the right thing - if there is such a thing - but what you aren't hearing is they are expressing their love. How Blessed you are to have so many who are so concerned about you. It's hard on you but it's also hard on them because they love you. For me it was harder to be the caretaker than the patient - I've been both. Let them love you - and be sure to love them back.
All the best,
Sally

Yeah I understand I'm trying my best to be positive and normal but its hard, I hope as I learn more things will get a little easier since it is still surreal atm.

[Sally C]

I know it's hard, Tony, and I don't know that there is a way to feel "normal" in this situation. You feel what you feel and that should be validated.
I was just responding to your saying:
"....but it is hard to listen to what they say since they aren't the ones going through it or have experienced it."
Take good care,
Sally