25 years after AA, now I've got AA and PNH

[squirrellypoo]

In 1984, when I was 5 years old, I had severe Aplastic anemia. My pediatrician was alerted by my unexplained bruising, ordered some blood counts, and rushed me to Hershey Medical Center. I was then transferred to the Children's Hospital of Philadelphia, where I was treated with horse ATG and made a full and complete recovery within 6 months and have been absolutely cured ever since. I was told then that it was definitely acquired rather than genetic, and that I'd have the same chance of aquiring it again as any other member of the population.

Fast forward 25 years later to early October of this year - I started having unexplained haemorrhages in my eyes that the optometrist could not explain, so I was referred to my GP for blood pressure checks (normal) and CBC, which showed very low RBC and platelets (~50), and I was referred to St Thomas's hospital (I'd emigrated to London, UK 6 years ago) and had full blood tests taken by the haematology day unit, which showed a positive PNH result. I had bone marrow biopsies taken which show that my bone marrow isn't producing hardly any platelets, and just yesterday I was given a tentative diagnosis of AA and PNH.

Luckily, I'm being referred to the UK's leading AA specialist, Judith Marsh, for late December and they're weaning me off the prednisolone starting today. My blood counts are low but stable so they're waiting to find out more before deciding on treatment, but I've been told it's likely I'll get ATG again as it worked so well before.

So all this has happened in the last two months. What was once an interesting side note to my childhood ("oh yeah I nearly died when I was a kid") is now the single biggest aspect of my life. Two months ago, I was the healthiest person I knew - I'd lost 60lbs a few years ago and have eaten an utterly healthy, organic and largely vegetable - and whole grain-based diet ever since, I've been a runner for years, logging about 30km a week and competing in 10k races, and proudly being able to squat my own body weight at the gym. Now I get winded and have a racing heart just walking up a set of stairs or carrying a single bag of groceries. Not being able to run is probably the worst aspect of all this for me right now - otherwise I'm tired but generally okay. But seeing other runners on my daily commute is just driving me crazy, and I want to just burn through an easy 5k right now more than anything else. My fiance has been fantastic with this, but I'm just today starting to tell friends so I don't feel so isolated and withdrawn in my emotions. I'm finding it's a lot easier to say in emails than to find the words in person.

I'm interested in hopefully meeting people here who:
1. are in London or the UK and have also seen Prof Marsh?
2. are runners and how they've coped?
3. have ever heard of someone getting AA twice in their life after such a long cure/remission/whatever??
4. have AA and PNH together as the latter is something new for me?

I'm guessing I'm going to be an interesting source of water cooler conversation at the haematology conference in SF right now...

[Dick S]

Sorry to hear about your relapse, but hang in there. As you may have read here, they have made great strides in recent years on new meds and treatments for all the various types of bone marrow failure and more are being found every day through trials and research.
Stay in touch here and we will all be pulling for you. You're added to my prayer list.

[Neil Cuadra]

I'm very sorry to hear about your repeat diagnosis after so many years, squirrellypoo, and I hope treatment is as successful the second time around. If they recommend ATG again, do you know if it would be horse ATG or rabbit ATG this time? Professor Marsh is doing a clinical study on this. The study description says "Rabbit ATG is more commonly used for a second course following relapse or lack of response to a first course of horse ATG" but the relapses they've studied in the past have probably been a lot sooner after the initial treatments than yours. You are likely correct that you're a source of discussion for the doctors.

Your situation will be alarming news to others who thought they were past their childhood AA. What a shock it must have been to hear the same diagnosis, with the addition of PNH.

Having a good treatment response last time, having a top-notch doctor who knows PNH too, having a healthy lifestyle, and having a supportive fiance are all big factors working in your favor.

To increase your chances of finding other AA patients in the U.K., you could post in our Your Local Area forum. You could also ask Professor Marsh if she knows of local or national support groups. The more people you have on your support team the better.

Please keep us posted.

[Dan2008]

Sorry to hear the news. I heard about somebody who relapsed after 10 years, but 25 is a very long time. Hopefully you'll respond again to ATG since you responded first time.

Do you remember what where your counts in 84 at diagnosis? And did they test you for PNH back then?

Hope you'll have a quick recovery.


Dan

[Marlene]

Hi Squirrellypoo,

Sorry to hear about the relapse with added PNH. PNH and AA do run in pairs for some. And from what I understand, many with AA have some level of PNH. It's just that it's so small it does not matter. John gets checked for it every year at his follow up visits at Hopkins.

So to answer your questions:
1 - There are a few AA patients from the UK who have posted on the Aplastic Central forum. You may want to post there also to connect with them. http://www.aplasticcentral.com/

2 - Same regarding runners. There have been some AAers in their 20's who were very sports oriented who have recovered and been able to incorporate sports back into their lives.

3 - I don't think you can ever say "cure" when it comes to AA. But certainly, in your case, after 20 years, it sure looks like a cure. Most call it a durable remission. And I would say that you DO have a much higher probablity of getting AA again than the general population. Like all autoimmune diseases, they can come and go and come again.

4 - Again, there are a couple of other AA'ers with a high PHN clone at Aplastic Central. There is fairly new drug called Soliris that has been approved for PNH in the states. It's usually not used until your PNH is pretty high though. Also, check the PNH section of this forum.

[squirrellypoo]

Thank you SO much for all your support and consideration everyone! I'm finding it quite difficult to talk to people about this as it's still so fresh for me, though I'm making a point to tell others around me despite the difficulty as I think it's best to have the support there when I need it. I like to think that all of this is making me a more compassionate person, too. So perhaps some good will come out of it, which is still a difficult concept for me right now.

I'll try to answer a couple of questions here...

Oh, and my name's Melissa if you feel funny referring to me as squirrellypoo!

Originally Posted by Neil Cuadra

If they recommend ATG again, do you know if it would be horse ATG or rabbit ATG this time?

As far as I know they're looking to try what worked last time around, which was the horse ATG (and if that works for 25 years again I'd be thrilled!). But that study by Prof Marsh is very interesting, thanks for finding that!

I'll know more when I go to see Prof Marsh in a month's time, I believe.

Originally Posted by Dan2008

Do you remember what where your counts in 84 at diagnosis?

At the time of diagnoses is 1984, my platelets were at 16,000 (whereas they're hovering around 50,000 now) and my hemoglobin was 8 (I don't know my current hemoglobin off the top of my head).

Originally Posted by Dan2008

And did they test you for PNH back then?

I just had all of my childhood records faxed to me from the States, and I didn't see any mention anywhere of PNH, so I don't know whether that's because it wasn't tested for, or just because it wasn't relevant because it was negative.

Originally Posted by Marlene

2 - Same regarding runners. There have been some AAers in their 20's who were very sports oriented who have recovered and been able to incorporate sports back into their lives.

Thanks, this is a great hope for me. There are a few others who messaged me privately who are also finding ways to fit exercise back into their lives, which is what I really, really would desperately love right now. But at the moment my body is really telling me not to push it as much as I'm craving the running...

Originally Posted by Marlene

There is fairly new drug called Soliris that has been approved for PNH in the states.

I saw a link somewhere that it was recently made available on the NHS here so that's good to know that it is available should I need it.

[squirrellypoo]

AN UPDATE:

I'm sorry I haven't been back to this forum in a while, but I found it difficult to deal with he burden of telling everyone I know in real life that I didn't have any energy left to do it here, too.

My counts have all fallen dramatically and now I'm going in to hospital twice a week for counts and transfusions. After further intensive testing, the Professors at Kings (Prof Marsh and Prof Mufti) have concluded that I've got AA and MDS, but not PNH. They say that ATG would definitely not work for me again, so now they're pushing forward with a BMT asap, which is in three months' time, proving a donor can be found.

In the meantime, on top of all the transfusions visits, my fiance and I also have to go in loads for IVF treatments to harvest and freeze embryos since I'm told the chemo will most certainly make natural conception impossible afterwards. I'm only 29, and getting married in September (hopefully still!), so this is a major jolt to our future family plans.

But I got to see the dedicated transplant unit at Kings and it is FANTASTIC. I can see know why it's the place in the UK for BMT. It's scary to think about, but at least I know I'll be in the best possible care.

[jyakker]

Hi!
I just wanted to let you know I am feeling your worry! I'm only 32(still consider myself young) and am going in for a PBSCT in the next couple weeks. I too want to have kids one day, but the chemotherapy does a doozy I hear. But I have also heard that some people are able to eventually have a baby after receiving chemo. I hope that's me too.
A donor was found for me 6 weeks ago and in that time, my blood counts have dropped very low. My gyno said that it was too late for me to harvest any eggs. I believe you have to receive injections of estrogen to get your ovaries working overtime to produce more eggs. But that also means menstruating. And with having low platelets(lower than 20), that just wasn't an option for me. I want to reserve my precious blood cells!
My doctor prescribed me a nasal spray called Synarel. It's prescribed for patients with Endometriosis, but it could help me. It's supposed to basically put my ovaries into a deep sleep, with hopes it will sort of lessen the impact of the chemo on my fertility. Theoretically it's supposed to work, but it's worth a try.
But if you've got time before your BMT, and your platelets are still high, I wish you good luck!!

Jody

[michelle_lapuz]

good luck to both of you - you can pull through this It must be really tough to have experienced remission then have this disease come back after so many years have passed. I was a really avid runner prior to diagnosis and despite my physician's advice I do occasionally sneak out for 3-4 mile runs - my platelets are low (below 20) and the following day I have extensive petichiae but after a day or two of rest they resolve then I'm out there running again. I'm definitely not suggesting that anyone does this but in life you have gotta do what you love or else you will really be in bad shape!!

I hope that you both are able to have children and stability post treatment.

Michelle

[RosP]

Hey Melissa. My 16 year old is having similar diagnosis queries - AA v MDS and has been diagnosed with PNH too. We are in Northern Ireland but liaise with a consultant in Bristol. At 16, we too are considering the fertility implications of a BMT for her and are awaiting results of donor matching tests on her two sisters. Bethany's illnesses seem to be genetic and we are awaiting test results to identify the faulty gene. Like you, Bethany is exhausted and unable to exercise. We have been advised to try yoga and pilates as they help with breathing, toning and relaxation. Not as rewarding as a 10k run I know but you would be keep your body healthy and improving some of the symptoms perhaps. We are frustrated at the lack of decision re final diagnosis and treatment. I am so glad that you are on the path to a very positive treatment which should allow you to return to normal activities in the future.

[Cheryl C]

Hi UK people - have you joined the UK MDS support group? It's on http://www.mdspatientsupport.org.uk/forum/index.php

Wishing you all success in finding a suitable treatment path.

[Sally D]

Hello fellow AA folks,

I have been so fortunate to have experienced 4 years of stability without all the hospital visits, blood transfusions and weak recovery times of my past. I have been able to spend lots of time with my granddaughters, taken trips with my husband, learned to play ukulele, taken art classes, delivered meals to seniors and made some quilts. So grateful for this time of normalcy.

Now back in the trenches I go. I had not been following the Forums but have attended the AA&MDS Conferences the last 3 years which have been so informative and encouraging. I find it very helpful to have fellow patients to email and consult with as we make these difficult journeys. I've been reading different posts for two days and feel overwhelmed with all the information and touching stories. I had forgotten how positive this group support can feel.

I am wondering if anyone can share their experiences with another relapse after two ATG treatments? I remember hearing from someone "they don't like to do a third"? I'm also very curious about the new drug Promacta. Also what treatments after two ATGs? Any new vitamin or diet ideas?

Thank you for any current support,
Sally D

[Neil Cuadra]

Sally,

I'm disappointed to hear that you are back in the trenches. Forgetting all about hospitals, AAMDS, and Marrowforums is a luxury many patients (make that "former patients") would like to have, so I'm glad you were enjoying a regular life in recent years. Now we want to get you there again.

You might read or re-read Andrea Pecor's Personal Profile. She would definitely dispute the claim that you can't repeat ATG as necessary.

[Tanusree]

Hi Sally_D,

My name is Arka, and I’m here by my wife’s name Tanusree.
She has been living a normal since she was diagnosed with AA in 2010.
Of late though, her counts have been dropping, giving us frequent nightmares.

I was also intrigued with Eltrombopag or Promacta, and that’s the reason why I’m here - to find out whether anyone has had any management post successful remission or could share any news about other drugs.

If you’re able to find something, do let me know.

God bless
Arka / Tanusree

[Sally C]

Hi Arka,
My husband was the first "guinea pig" with MDS to try Promacta at The National Institutes of Health in Bethesda, Md. after no other treatments worked. He is sometimes thought to have overlapping MDS/AA. He is in his 7th year in remission after over 125 blood/platelet transfusions. NIH decided to try Promacta on MDS patients because of their success with AA patients taking the drug. For us it performed a miracle. I posted quite extensively before he went into remission. You may want to look back and read my posts. He was diagnosed in spring of 2009 and started Promacta in spring of 2011 and has needed no further MDS treatment since then. He stopped taking Promacta in 2012 once his platelets hit 100,000. At one point before Promacta his platelets were 4,000 and his neutrophils hit 0.0.
All the best,
Sally