Just diagnosed

[Shana]

Hello everyone,

I'm 23 and I was just diagnosed with SAA and PNH a few weeks ago, and it is barely sinking into my head. I already got the vaccination a week ago and my doctor wants to start me on Soliris on Thursday. My two siblings just sent back their DNA kits and they have not arrived at the hospital yet.
I am anxious to find out if my siblings match, and this waiting is very difficult.
The prospect of a BMT is making me nervous as well, because of the high-dose chemotherapy and the likelihood of infertility.

My doctor wants to find out if the Soliris will have a substantial effect on my blood counts. I feel like I've just been thrown out into this completely new territory, with worries I never knew I could have. It has been encouraging reading through the forums, so thanks for that!

I'm sure I will be asking some questions on here soon.

Best,

Shana

[Neil Cuadra]

Shana,

I'm sorry you've gotten this double diagnosis, especially at your age. There's no good age for a life-threatening illness, but it seems even less fair for young adults who are typically just starting out on their own and are usually quite healthy.

How did you learn that you had SAA and PNH? After a routine checkup?

You're doing exactly the right thing by learning about the diseases and asking questions. Ask your doctor, ask your hospital, ask other patients here, ask the Aplastic Anemia & MDS International Foundation, and ask the PNH Research and Support Foundation and the PNH Support Group.

Soliris has proven to be a very successful drug for many PNH patients. Let's hope it is for you too, so a transplant won't feel so imminent.

Fertility is something you have to keep in mind from the start. Make sure every doctor you work with knows about your fertility concerns, especially when the topic of transplants is discussed. There are ways to preserve fertility but you have to work with a specialist before your reproductive system is put in danger.

[Shana]

Hi Neil,

Thank you for your kind reply! Are you experiencing similar troubles?

I went in for a blood test because of the Petechia on my legs, some minor nosebleeds and some general fatigue. I may not have gone to the doctor if I hadn't read on the internet that these could be symptoms of Leukemia. Although it thankfully is not Leukemia, I am glad reading about it made me go to the doctor. Of course, who could have guessed it would be a super rare blood disease! And I am super healthy, too. I just went hiking in the Dominican Republic's mountains in January, and a couple of months later I'm in the hospital. I am aware of how fortunate I am, though. This is probably the best time something like this could happen to me - if there is such a thing. It's never a good time, haha...

I really appreciate all of the helpful links you posted, I'll definitely check them out. When I got my labs done at the hospital today I brought up the fertility issue and had a social worker come in and give me some information about preserving eggs - it has really put my mind more at ease to have a back-up plan. I think I prefer the BMT (if my siblings match!) over atg and Soliris, just because I have both diseases. If it was just SAA, I would want to try ATG first before going for a transplant. But the addition of needing the most expensive drug in the world for the rest of my life is pointing me more towards the only curative option. My brother said it would give him an excuse to skip a week of college

Really, thank you for your support!!

[Neil Cuadra]

Originally Posted by Shana

Thank you for your kind reply! Are you experiencing similar troubles?

I'm the caregiver for my wife. She was treated with ATG for AA, and 2 years later had an unrelated-donor transplant for MDS. Her siblings matched each other but not her. She is now doing fine.

Being young and otherwise healthy increases your odds of success for any treatment approach you choose. The positive attitude of your family will pay off too.

Aren't you glad you went to that doctor over those seemingly minor symptoms? Many patients have been shocked to learn they were facing bone marrow failure after getting routines checkups. Diseases like these can put a big dent in your plans, at least temporarily, but I know from my own experience that you can fight back and get past the roadblocks. A bit of luck never hurts, but self-education and good medical care are key as well.

[Shana]

I am sorry to hear about your wife. Very good news about the transplant!

Yeah I was really surprised, with the instant hospitalization and all. The doctor who did my blood test called me at 3:30am and told me to go to the ER.
For some silly reason, I thought going the whole weekend without a transfusion was a good idea. Hemoglobins at 7.4 on Thursday. Wrong decision!

Thanks for your reply!