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[leeslay]

I went to the Dr. the first time in February 2009 because I was bruising like crazy! My Dr. thought I had luekemia at first because my platelets were 10, I will never forget that day. They did a bone marrow biopsy and found it wasn't luekiemia, but I was not diagnosed until early April. My hemotologist told me I have Aplastic Anemia, PNH and MDS. We were going to do the horse ATG but I had an immediate allergic reaction to the skin test. We did the rabbit ATG instead. I had severe serum sickness for over two months! I did have a reaction to the rabbit serum but it took about 3 1/2 months. My platelets are now around 30,000, my WBC is 1.8 and my RBC is 9.6. I have to get red blood transfusions about once a month. I have not had a platelet transfusion since June.

Since my counts are now starting to decline my Dr. wants to try the horse ATG, first starting a desencitation. I was not comfortable at all with this so I went to the Mayo Clinic in Phoenix to get a second opinion. The Dr I saw there was not crazy about doing the horse ATG either, but said it was that or a BMT. I am 38, I have two kids and a wonderful husband who has been very supportive. My family has been great throughout all of this. I do not know what to do now. I am not very interested in doing the horse ATG so that leaves having a BMT. This is scary to me also but I want this cured, not just treated. I am not sure what to do!!

Has anyone else been diagnosed with all three? My Dr. says its not very common. Any input would be greatly appreciated.

[MichelleD]

Hi,

I also have all three. I was dx with SAA 6 yrs ago and have undergone Horse ATG twice. I am on Cyclosporin for life. In May 2009 I found out that the AA had morphed into MDS and I had also developed a PNH clone (47%). There are many different types of MDS, so I don't know what your biopsy has shown. Mine shows the chromosomes in my stem cells have mutated in 17 of the 20 samples. They aren't the usual mutations, but none are good. We immediately started the donor search. It can be a very long process and costly. My insurance doesn't cover the cost of the search, other than the donor that we use. It cost's $3700 a test for each of the people that we have to detail test b/c mine were all found on the international registry (no hits in the US). This also takes alot more time. We have just found a 10/10 match (6 months later). However I have been told by doctors from all over the country that at 41, I only have 50/50 odds of surviving the actual transplant. We are waiting until I go out of remission again and then will head directly into transplant.

Only you and your family can make the right choice for you. Listen to what and why your doctor is telling you to do certain things and get a second or third opinion if you want. I have had many because of moving during my sickness and they had all agreed on the course of treatment for me. That has made the decision making easier. I would also check things out on the NIH's website. They have many studies going on and they are the best in the world on this subject. Dr. Young is the best around.

Each patient is different and when you have all three, they are never the same. We all react differently and have different things coming out of remission at different times. I hope it all works out for you. It's been a long road and I'm not looking forward to explaining the transplant to my 10 & 11 yr old. They say is could be in a few months or 10 yrs. They just don't know.

Michelle

[Hopeful]

Hi Leelay,

I also have a morph of AA, MDS, and subclinical PNH. Like you, I went to the doctor because I was bruising like crazy. It also took 3 months for them to begin treatment (horse ATG/Cyclosporine) because they were having such a hard time with my diagnosis. I still don't have consensus on the diagnosis, but it matters less to me now as it appears to be immune mediated.

What is your PNH clone size? Do you have chromosomal abnormalities? Blasts? Did you get serum sickness despite being on Prednisone? Are you taking Cyclosporine?

I also recommend getting another opinion - especially when the diagnosis is so tricky and the treatments are so risky. Dr. Paquette at UCLA is another good option. He has a lot of AA experience, which is the rarest of the three diseases. He is also just a short Southwest flight away.

I am like MichelleD in that I will only use a transplant as a last resort, despite having perfect sibling matches. For me, the statistics are just too grim when there exists the possibility of other less risky options that will buy me time. My transplant doctor said I would have only a 20% chance of living 10+ years with a transplant. Also, there is the high probability of having chronic GVHD. There was another AA/MDS person (Mark John Yates) who took the transplant route 2 years ago. Check out his caring bridge site to read of his journey.

[Birgitta-A]

Hi Hopeful, Michelle and leeslay,
You know you are all young and as far as I understand low age is one of the most important variables for a good result after SCT according to this report from Dana-Farber. Disease, stage at transplantation, cytogenetics, and pretransplantation ferritin are also important.
http://www.ncbi.nlm.nih.gov/pubmed/18158958?ordinalpos=15&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

Many members of this forum has had SCT:s with good results the last year and I think the better supportive therapy is giving better results every year, so older reports are not really relevant today.
Kind regards
Birgitta-A

[tytd]

Hi Leeslay,
I recently viewed a recorded lecture by Dr. Paquette from UCLA at the Patient conferences offered in July by aamds.org. on emerging therapies. It was encouraging. The beginning of the lecture addresses somewhat your question and I recommend you view the first several minutes of it by going to the Online Learning Center at aamds.org. TYTD

[leeslay]

I really feel stupid because I have no idea what this stuff is!! My marrow was hypocellular at about 20%. Trisomy 12 in 8 metaphases, the trisomy 12 was confirmed by FISH which showed an extra copy of chromosome 12 in 30.7% of nuclei examined. My second bone marrow biopsy in April showed hypocellular with a cellularity at 10%. The were areas on the biopsy that were virtually acellular. No increase in blasts (but not sure what the first one showed on that) Again there was an extra copy of chromosome 12.

My dr wants to do another biopsy this coming week to see how things looks. I haven't had one done since the ATG.

I am on cyclosporine right now and had severe serum sickness with the rabbit ATG. Fever, chills, joint pain (still have that) hives, rash, nausea, vomiting, diarreah, dizziness, high blood pressure, I think thats all but it all happened so I'm not sure. I was on prednisone until July and getting myself weaned off that was a nightmare in itself.

I really don't want to try the horse ATG - especially with the allergic reaction. Has anyone had a reaction to the skin test and still had the horse ATG done?

[leeslay]

I went on the website and have listened to several speakers. Thanks for the info - It has been very helpful!!!

[Hopeful]

Hi Leeslay,

Are you being treated for your PNH? Perhaps this is causing your red cell destruction and need for transfusions? If you have clinical PNH, be sure to consult with a PNH expert. Many hematologists know nothing about the disease. There is a very active PNH forum at http://www.pnhdisease.org/modules.php?name=Forums
There is also a list of PNH experts on this website.

I didn't have any major issues with the ATG, whereas your experience sounds miserable. I can see why your hesitant to do another round, especially if you didn't have a strong response the first time. I hope your biopsy shows that the aplastic side of things is improving.

The thing that scares me most about a BMT is the increased risk for infection even years later. How do people mitigate the risk of infection if they have young children (a.k.a germ factories) running around?

Thanks tytd for posting the information about the aamds.org video conference updates - very interesting!

[Neil Cuadra]

The thing that scares me most about a BMT is the increased risk for infection even years later. How do people mitigate the risk of infection if they have young children (a.k.a germ factories) running around?
When you are undergoing a bone marrow transplant, your white count may temporarily be very low, putting you at risk if you get an infection while you are in the hospital.

However, a successful transplant is a cure for the bone marrow failure disease so after recovering from the transplant procedure your blood counts should return to normal. As you mention above, there can be other long-term issues like GVHD, but risk of infection should not be one of them.

[Lisa V]

"...after recovering from the transplant procedure your blood counts should return to normal. As you mention above, there can be other long-term issues like GVHD, but risk of infection should not be one of them."

Well... yes and no. My own admittedly incomplete understanding of the process is that once your white count has recovered you have roughly the same infection-fighting capacity as an infant. That is to say you have lost all of the acquired immunities you had built up over a lifetime of exposure and vaccinations, so while you may have a good working immune system, you're still more prone to all of those childhood diseases than you were before you had the BMT.

Anyone care to comment on this? I know some post-transplant patients are given IVIG. Does that help restore your immunities or is it just a temporary protection?

Also, can someone explain how you can have both AA and MDS? I thought that as soon as they find any chromosomal mutations or dysplasia that automatically changes the diagnosis from AA to MDS. At least that's what they told us, so Ken's official diagnosis now is hypoplastic MDS instead of AA, even though we still think of it and treat it as AA.

re: Mark Yates: I don't believe he was ever diagnosed MDS, just AA with shortened telomeres. I could be wrong, but he always refers to it as "Aplastic Stupid Anemia". ;-)

[Marlene]

My understanding is the same.....it's either SAA or MDS, not both. The AA diagnosis is what's left after they rule out many other possibilities. PNH and SAA is a possible combo though.

[leeslay]

That is what both my Dr. and the Dr. at the Mayo Clinic told me. That it is AA, PNH and MDS. I don't really know how it all works or why it can be all three, but it sucks all the same. The ATG is a horrible thing to go through especially when you have serum sickness. I just want to get through the desensitization and the second round of ATG to hopefully get my HGB to where its producing again.

[Laura]

I am confused too. I thought it was either AA or MDS not both. Anyone comment on this?

Just curious who you saw at Mayo Clinic. I had my BMT there and have been seen there for the past 3.5 years.

Laura

[Laura]

Lisa,
IVIG is a temporary thing.

Laura

[leeslay]

Hi Laura, I am very confused now too. I have sent an email to Dr. Young at the NHI to clarify, he is one of the Dr's my Dr here has consulted with. So as soon as I find out anything I will post it. I saw Dr Slack at the Mayo Clinic in Phoenix. He did agree that there were signs of the MDS in my marrow. I am supposed to be getting another BMB within the next week, so hopefully I can get some answers.

[Laura]

Lee-
It must be frustrating for you to hear us saying we are confused because it just probably makes you confused too! Please do let us know what they say. I am interested to know. Best of luck on the BMB.

Do they give you steroids to prevent the serum sickness? If not, you should ask for this, if they did, you might need a higher dose to prevent serum sickness.

Laura

[leeslay]

Yes they did give me Prednisone, I started with 40mg a day and then weaned off of it by June I think. I am hoping the second round isn't as bad. But at least I'll know what to expect this time.

[Laura]

I was started on 65 mg daily.

You might want to ask if they can increase your dose if you don't feel your dose is helping. There is no reason for you to be in pain.

Laura

[Hopeful]

Hi Leeslay,

I was on 50 mg/day of Prednisone and weighed 100 lbs at the time. (I think it is dosed by weight.) I was weaned off within a month. Make sure that they are giving you the correct dosage for your weight.


With regards to the MDS/AA combo diagnosis...

My understanding is that MDS, AA, and PNH are overlapping diseases. So, it is possible to have characteristics of all 3. For me, I call myself AA/MDS because I have one expert who says it is definitely AA, 3 that say it is MDS, and 1 that says it is a unique combination of both. I don't have chromosonal abnormalities but have dysplasia and fibrosis in a patchy hypocellular marrow.

[leeslay]

Yeah, my Dr told me it is a rare thing to have all three. Thats why it took 2 months to diagnose. He flat out told me that he doesn't know if the ATG will do anything or what effects it may have. So it was a totally "wait and see" situation. I think those are my most unliked words right now "wait and see".:D

[leeslay]

About the Prednisone, did it make anyone sick? Like burning in the hands and sore joints? I had just bad serum sickness i wasn't sure if the burning was from the steriods or lingering serum sickness. I was also put on high blood pressure meds and about 3 weeks later I was blacking out and feeling like crap. I had to get admitted to the hosp because my blood pressure was back to normal and the meds were dropping it down. I completely understand everyones frustration with the processes there are. Especially the wait and see response.

[Hopeful]

Hi Leelsay,

I had the burning hands/feet and was really jitterly, but it was from too high a dosage of Cyclosporine. I was extremely sensitive to touching water. Cyclosporine can also cause high blood pressure. What dose did you start on?

Prednisone is miserable! I had a lot of weird side effects that went away weeks after stopping it. I think it causes low blood pressure.

I had intense joint pain intermittently about a month ago that would wake me up at night. Soon after, my counts started to rise. I've heard that it is a common symptom in pediatric leukemia patients as cells fill the marrow. I hope that is your case and not AVN!

Best of luck!

[leeslay]

Hi its been awhile since I've been on!! I do not have AVN but I do have Iron Overload. I am waiting to get the Exjade to start taking that. However I really need a transfusion - red blood level is 7.2 - but I can't have one until I start the Exjade. It was been really frustrating the last few days but I got ahold of a great customer service rep at EPass and he got me all set up.

Still going up to Denver on the 7th to see the Dr about desensitization and then will have that done and then the Horse ATG. So we are just waiting until that happens.

Best wishes and prayers to everyone!!!

[Marlene]

Lee,

I don't understand why your doc feels you need to wait. That seems very odd to me....If you need red cells you need to get them. I can't think of any reason to hold off until you start Exjade. There's way more risk of having low red cell than the current iron overload. What is your ferritin level and how long has it been high?

Your doc also has the option to order IV desferral to be given during a transfusion if he's really worried about the iron. IV or Sub-Q Desferral is is what many used prior to oral Exjade was available.

I would push to get red cells if you are having symptoms.

Marlene

[sandra]

Disease, stage at transplantation, cytogenetics, and pretransplantation ferritin are also important.

Hi Birgitta,

Very interesting report, thanks for posting. Here is the link to html version:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2212610/

Sandra

[leeslay]

I did get a response from Dr. Sloand from the NIH and she said that AA and MDS are seperate diseases but have very similar syptoms so they can be hard to tell apart. I guess that's why my Dr said I had both? Maybe to cover all bases, I'm not sure.

[leeslay]

Marlene, I have never heard of that medication but I will ask him about it. I am still new to this and am not sure about all of the different meds and treatments out there. Thanks!!!

[Marlene]

From what we were told when John was first diagnosed is that it is very important to nail the diagnosis since treatments are, for the most part, very different. I think only one form of MDS is treated with ATG.

One other thing regarding iron overload. Each full dose of Exjade chelates approximately 40 mg of iron but it does vary from person to person. (at least that's what I remember) So it takes several days of using it to remove the high amount of iron you get with each transfusion. Each bag has about 200-250 mg of iron so it takes 10 -14 days to get rid of the iron in each bag. This is also true for desferral. The frequency of transfusions pretty much dictates whether or not the Exjade will reduce the iron burden or just keep it status quo.

I hope you were able to get your red cell and feel better.

[leeslay]

Wow so we went up to Denver to see the allergist about the horse desensitization and they called today and said come up Wednesday! So we are running around trying to get things done. I have to go in to the hospital here in the morning and get a new PICC line inserted. But thats a piece of cake. I will be in the ICU for 3-4 days and then they are going to do the horse ATG right after so that will take another 5-6 days. At least I'll be home before xmas! I am pretty nervous though, the Dr in Denver said that the horse desensitization isn't a common thing and has only been done about 6-7 times but he was pretty confident so it made me feel better.

Wish me luck! Tomorrow is going to be a busy day!

[Laura]

Lee-Best wishes in everything. Keep us updated!
Laura

[leeslay]

We checked in Thursday evening and they started the process on Friday morning, yesterday was hard, I got pretty sick a couple of times. So far today things are going much better - no sickness or reactions yet, they are going very very slow which is fine with me!!!!

A couple more days of desensitization and then onto the horse ATG!!!

[Lisa V]

Lee, what is involved in the desensitization? I hadn't heard of that process before. Do they give you something besides the usual prednisone, Benadryl and Tylenol? Hope it works for you!

[leeslay]

Hi all! Well apparently there has only been about 6 desensitizations done so far world wide! I had an allergic reaction to the Horse ATG skin test and so they did the rabbit ATG back in April. There were little to no results so my Dr wanted to try the Horse ATG.

They basically started out with very small doses of the ATG until they had a full 100% dose going. It took about 6 days to do but the hospital was so great!! At the first signs of serum sickness they stopped the atg and gave me a break from it. Whereas the hospital I did the rabbit atg at just kept pumping it in me even when I was really sick.

So I had a cbc on Tuesday and my platelets jumped up to 39,000 from 13,000and my rbc count also went up on its own. It has never gone up on its own, not once so we are pretty excited about it!! I know it'll take awhile to really know for sure but we are very hopeful!!!

[Hopeful]

That is great news Lee! I am so happy for you!

Wishing everyone a Merry Christmas and a New Year filled with strength, hope, and love!

[Lisa V]

That does sound like great news, Lee! Hope things continue in that direction!

That also sounds like a very sensible way of giving ATG to people with serum sickness reactions, rather than just pushing through it. It's odd that it is so seldom done that way. I guess that's just another graphic illustration of how economics often takes precedence over patient wellfare! :mad:

[JEZ]

Fantastic news!!! Best wishes to your full recovery of counts!!!