New Member - Need Advice - two children with AA

[Marilinw14]

Good morning,
My name is Marilin and I'm new to all of this. I have a 7 year old who was diagnosed with AA last year. He underwent ATG last October and responded very well. His last transfusion was back in December. We are starting to wean him off the cyclosporin now and he will get his meda-port removed next week. He will be back to school fulltime starting in two weeks. His counts are at 60k for platelets, hemo 9.7, wbc 3.4,rbc 2.83. I'm curious how long it should take to taper off the medicines. The doctor's tell me about 3 months but is this too fast?

On another matter, as soon as we got the good news on Jordan, we found out my older son (9 years old) also has low counts. We are now in the process of doing all the tests necessary to figure out why but we think it may also be AA. I noticed the bruising immediately and we took him and his platelet count was down to 5k. I felt like someone punched me in my stomach and my heart. Too much heartache for me right now. He has gone through two transfusions so far and he is feeling fine. Our biggest dilemma now is that he wants to play football. He is passionate about it and has been crying for days over it. I'm so sick over all of this and I can't believe we will have to go down this route one more time. Any advice about the sports thing?
Thank you.

[Marlene]

Hi Marilin,

I cannot even imagine what you are going through at this point. This is so, so, rare to have two children with SAA. Have your doctors looked for common threads like genetic testing, toxic environmental exposures, shortened telomeres, etc? Has there been an unusally high rate of AA or blood disorders in your area? Hopefully, your docs will consult with NIH, Dr. Neil Young regarding your situation.

On the cylco taper, check this link on AA.

http://forums.marrowforums.org/showthread.php?t=559

Also, you may want to post your question in the AA section of this forum. With 9K platelets, I doubt that playing sports is doable.

I hope things turn around soon.

Marlene

[sandra]

Hi Marilin,

I took the extreme measure of e-mailing you directly in addition to posting on the forum, because I feel VERY STRONGLY that your children are misdiagnosed. Giving how rare AA is, it is impossible to have 2 kids afflicted in the family unless something else is happening. I'm surprised that your doctor did not question this. If he didn't, he's a bad doctor, and I'm not mincing words here! (plus, he said to taper over 3 mo, which is clearly inadequate!!!) I would advice for a second opinion ASAP, preferably to a doctor that treats AA in particular, even if it is far away from where you live.

The first thing that comes to mind is something genetic, in particular Fanconi anemia. Have your sons been tested for it? It is a special blood test, takes a while to get the results back, but you MUST do it, because the treatment route is quite different than AA, and actually the ATG is contraindicated in Fanconi.

As Marlene mentioned, another genetically related possibility is short telomeres, and in this case it might be AA, but it is clearly not autoimmune, so the ATG might work or not. Or it might work for a while, and then a relapse happens. I'm not trying to be negative, but with such young children, you must understand all the aspects of this disease, so you can decide accordingly. Maybe a transplant might be a better option?

Also, even if is not very probable, it is not impossible to have some environmental exposure, although this would be hard to prove (for example, higher incidence of leukemia in the area).

For starters, I would again emphasize the need to get a second opinion ASAP!!!!

Sandra

PS You can also check the other AA forum
http://aplasticcentral.com/test/toas...n=topics&fid=2

[Wendy Beltrami]

Marilin-

YES YES YES, I echo everything Sandra said. There is surely something else going on here. You didn't mention where you are located but you should definitely get a second opinion. Fanconi or dyskeratosis congenita or something environmental has got to be considered here.

If you post what city you are in, I'm sure this group can recommend a center of excellence near you.

Wendy/mom to Grant now age 16
dx 12/4/98 AA

[Marilinw14]

Thank you so much for the response. We live in Pittsburgh, PA and the boys are being treated at Children's Hospital of Pittsburgh. Jordan is doing really well but I'm still concerned about the tapering off of cyclosporin. I think we need to give it more time because I don't want him to relapse.
As for my Jalen, I'm still in shock. We are thinking about going down to the NIH to see Dr. Young. We live in the suburbs in a new home. However, we just got our radon tested and it is extremely high. We are in the process of getting a system in the house that will help. Could that be the link? I'm not sure. My boys were always healthy but no one else in our area is sick.

We did all the testing on both boys and everything else came back negative.
At the time I accepted the fact that my younger one had this but can not accept that both of them have it. Its too crazy!
Marilin

[Marlene]

Marilin,

On the Radon, how long have you been in the house? I would think it would take a fairly long time for it effect health. Also, did you have granite installed anywhere? In the last few weesk they have been reporting that some granites can emit radon/uranium also. Some of the more exotic types. Someone said get a gieger counter to see how active your granite is. Of course, we have it in our kitchen since 95.

Did your docs run a 24 hour toxic urine test and also hair analysis? John had a hair analysis done when he was first diagnosed and his uranium was high. Subsequent tests, 2 and 5 years out, show it normal. No doc thought this had anything to do with AA. John has also had, post treatment, his red cells tested for heavy metals, his urine tested again and his blood serum for orananic compounds (like pesticides, toxic chemicals).

I know radium can collect in bones and fatty tissue of marrow but that has never been tied to causing AA. Per the report from the hair analysis, Uranium (U) is very abundent in rock, particulary granite. It's in the ground, drinking water, root vegetables and high phospate fertilizers. Also found in ceramics, some colored glass, househould products (uranyl acetate) and tailing from U mines. U binds to protine, nucleotide and bone where it substitutes for calcium. Kidney and bone are the primary sites for U accumulation.

The other thing I would check would be the soil in your yard especially where the kids play.

Marlene

[Hawaii Bill]

Hi,
Just wanted to echo what others have said. A second opinion cannot hurt!

Dr Margolis, in Milwaukee I believe, is a pediatrician specializing in AA.

I think the biggest mistake I made at first with AA was not being treated at a center that specialized in it. Had I done so, I think I would not have suffered a relapse.

[Marilinw14]

Hi..thanks for all the responses. We have only been in our home for three years. Its a new home and no granite in the house. We went in today because Jalen (the older one) needed platelets today. I told them that I wanted to see Dr. Young at NIH and they agreed that it would be a good idea. They are in the process of sending Dr. Young all the ppwk. We have done every single test imaginable with Jordan (the younger one). Again, Jordan is doing great and we are tapering off the cyclo. I'm still concerned that we may be doing it too fast. In October it will be a year since his first round of ATG which he responded very well to. The times we have decreased the cyclo his counts have gone up a little bit.
As for Jalen we are still have the major issue over football. He really wants to play and I think he could practice tonight because he got platelets today. I want to keep his life as normal as possible and I think taking it away completely may do more harm. We are very positive people and tell the boys they have to fight whatever this is and not let it stop their lives.
I can't believe we are going through this all over again!
Marilin

[Marlene]

I'm glad you'll be seeing Dr. Young at NIH.

On the football....that's a tough call. I don't know what's involved with 9 yr old football, but I'd have to err on the side of caution if there's tackling involved. If it's just exercises with throwing and kicking, I can see how that would not be too bad.

Do you know what his clotting times are? It takes more than platelets to clot and if he clots normally, then I think the risk is somewhat lessened. Not by much though especially if he gets knocked down. You have to be concerned with internal bleeding. If you let him go, have lots of ice on hand.

There are mom's here that can probably address this better than I. They have all had to deal with their kids activity levels.

Take care.....M

[michelle_lapuz]

I am so sorry to hear what your family is going through and I sincerely hope it isn't another diagnosis of AA. Your sons are in my thoughts and I hope things work out okay for all of you.....

Michelle

[ljvoight]

Hi Marilin,

My daughter Danica was diagnosed with vsAA in 10/2006 (11y old). She is an avid club soccer player. She had a BMT and is now turning 13 and is doing great and is back in club soccer. That was her goal!!! Her second one is Gymnastics!!!

I personally would hesitate w/ football, I have two son's who also played when they were younger and we are not talking "touch". Until you know what is really happening w/your son's I personally would hold off.

I explained to Danica that we are not giving up, we are just taking a slight Detour. I might explain to the coach and tell him what is happening and let him exercise w/ the team, but not let him get into physical contact. He may find out just exercising with the team will push his limits especially with low counts. Danica wanted to do this but her counts were so low that is was not a possibility.

We are also a big believer in never giving up and fighting for what you want!! but in this case you could be talking about the possibilities of a brain hemorrhage or other internal hemorrhages that you would kick yourself over if you let him play.

You are the parent!! it is not your son giving up...it is you... deciding what is best!!!!!

Sorry to be so direct!!!! My heart goes out to you...and your family. Dr. Young would be an excellent 2nd opinion as well as Dr. Margolis. A second opinion is an absolute must!! especially w/ two children!!!!!

Wishing you the very best,
Linda V.

[sandra]

Hi,

You can read Bobby's web site.

http://www.caringbridge.org/visit/bobbyloughran

It might help for Jalen to relate with a boy in similar circumstances.

Sandra

[nancydil]

Hi Marilin,

I can only imagine what you are going through, but I have to assume that with 2 children with AA, your pediatriac hem/onc is agrressively pursuing a genetic link. Have they ruled out chemical exposure, viral, auto-immune, Fanconi's Anemia, etc? You need to make the Dr aware of a research study(Inherited Bone Marrow Failure Study)IBMFS, through the National Institutes of Health(NIH), at the US Dept of Health in Bethesda, MD. They have available only to researchers a new test called Telomere shortening that can diagnose a genetic defect when all other testing currently available to doctors cannot pinpoint a cause. A blood sample is FedEx'd to Vancouver,BC, Canada where the test was developed by Dr. Peter Lansdorp. NIH will send the test to kit to your local Doctor, they can draw the blood and FedEx it to Canada. It generally takes 5 - 8 weeks to get the results. Please do a search on telomeres, the NIH study, and Dr Lansdorp. If you wish to contact the NIH directly, call the research division, the National Cancer Institute, @ PH# 1-800-518-8474. Ask to speak with Lisa Leathwood,research coordinator for the IBMFS being conducted by Dr Blanch Alter and Dr Stephanie Savage. Do a search on Balnch Alter, too.

My child was diagnosed with SAA at age 6 and for three years we saw every expert, had every test under the sun and noone knew what the cause was.
We found the research study and my child did test positive for extreme telomere shortening and thus has a genetic defect. We do not yet know if it is spontaneous or inherited because they have yet to discover most of the genes that cause bone marrow failure. Immunotherapy and growth factors cannot correct a genetic defect. My child had a transplant in Jan'08, is doing really well and went back to school two weeks ago.

Good Luck to you,

Nancy

[klps]

I have read all the responses here. I would totally agree with getting another opinion.
I have been successfully (so far) treated with ATG through Dr. Young and the NIH. Part of the study I took part in experimented with the length of the cyclosporine taper. I think you may have gotten a shorter taper from your doctor because that's just what they do right now. Until the NIH, or another medical institution, proves differently, they won't change that.
I tapered over about a year or so. I reduced my dose every 3 months by 25%. That has worked in my case, but you'll need to make sure it will work in your case.

As far as seeking treatment at the NIH - While it has been very successful for me, I definatly had to be my own advocate and fight for myself. It can be a very overwhelming place. Especially with children, you will have to be present at all times and fight for your child. It will be intense, but potentially rewarding.

Regarding his desire to play football, I'm with some of the other posts here. I would certainly allow him to practice with the team, but full contact should be off limits for now. I would think he will be exhausted with just practice and could potentially get sicker if he pushes himself. He may require more transfusions if he pushes it. Transfusions will not work forever, and in my opinion (which doesn't count for much) I wouldn't take the transfusions for granted. Meaning, don't let him get hit in football just because he got a transfusion of platelets that day. Don't "waste" the platelets!

I'm sorry if this sounds judgemental, but it's just my opinion. You will know in your heart what will work best for your sons. May God be with you and your family. I pray that he provides you with tremendous strength and stamina to get through this.

[Hawaii Bill]

I'm not a doctor but I really think football is out of the question with a low platelet count, even after a transfusion (the counts may still not be high enough to prevent injury, or, if enough time has passed, the count may have dropped to a critical level). It's not the external bleeding as much as it is the possibility of intra(er?)cranial bleeding from exertion and impact.

When I saw Dr Young at NIH, I asked him about my vulnerability in a car accident with a platelet count in the 20's. He said that as long as my clotting is not impaired, I should be fine: low platelets is not the same as hemophilia. He said he would be far more concerned about bleeding in the head.

My own experience with the stress of simple vomiting with low platelets is that my face bruises and my eyes get bloodshot, which takes days to clear up.

Just my 2 cents.

My very best wishes for your kids!!! Dr Young at NIH is definitely a good way to go!

[sandra]

Hi Bill,

Interesting detail about you vomiting at low platelets. I guess it cleared up a question that was nagging me. My son (he was 5 at the time) started to vomit out of the blue 3 mo into the ATG treatment. He also had petichiae under his eyes and his vomit tested positive for blood (very small amounts). At that time we were trying to minimize platelet transfusions, hoping for a response (which thank God happened after all). So we would let him go 10 or below before transfusions. Well, I clearly remember that I was a bit unhappy with our doctor decision to transfuse him at 20 after one such vomiting episode occurred in the hospital. Reading your story, she was right, I was wrong!

I'm curious, since this seems to happen only to certain patients, did you have a history of frequent heartburn, ulcers or similar prior to your AA diagnosis? I'm asking because the males in my husband's family seem predisposed to such thing.

Sandra

[Hawaii Bill]

Hi Sandra,

No history of heartburn, etc. I did have a duodenal ulcer some 25 years ago, caused by stress and taking a lot of strong anti-inflammatory medicine for my aches and pins from marathon training.

It was also 18 months after my ATG treatment when I had these vomiting episodes; I think that my CsA dosage of 200mg bid causes me to be susceptible to even slightly tainted food, so I am more careful.

Hope this helps answer your question.

[sandra]

Hi Bill,

Thanks for your answer. I was actually hoping I could answer this question, why did he suddenly start vomiting? Was it because low platelets or something else? I guess I will continue to wonder :-)

Sandra