Possible bone marrow failure?

Hello - My name is Janet and I have a 7-year-old son who has a congenital hemolytic anemia which is undiagnosed at this time -- he seems to be the only with whatever he has.  Thalassemia has been ruled out along with CDA, Diamond Blackfan, PKD, etc.  Whatever it is, he is life dependent on transfusions and has received 61 to date with #62 scheduled tomorrow.  He is on ExJade, had his gallbladder and spleen removed, etc.  Many similar situations to a thalassemic diagnosis. 

He generally goes 3 to 3-1/2 months between transfusions and receives his transfusions at about 6.8 HGB or 20 HCT.  He received a transfusion 7 weeks ago and last week spiked a fever of 104.5 and I took him to the ER (which I really try to stay out of).  His HBG was 6.8 and HCT was 20.9.  His platelets are ALWAYS critically high between 850 to 1100.  His WBCs were 25.9.  We "think" he had a viral infection (roseola).  Ran fever for several days, followed by a rash and seeming recovery. 

Had a followup CBC today.  HGB is 6.3, HCT is 14 (wickedly low), RBC 1.26, WBC 7.5, and his platelets are actually below normal at 211.  This has never happened.  The phlebotomist had a tough time with the finger poke (he has a port) and said his blood was so thin it wouldn't form drops but was only smearing.  WEIRD.  This evening we went to the hospital for his type and cross and the hospitalist said it sounds like his bone marrow has possibly stopped working over the last week OR his hemolyzing has increased markedly over the last week.  I am more than a bit frightened by this and wondered if anyone here has had a similar experience?  Does the bone marrow stop working and then kick in again?  Is there a way to stimulate production?  Obviously, we have had problems with red blood cells for his whole life, but not with white cells or with LOW platelets, but rather critically high platelets. 

He will be seeing his hematologist in 10 days and the hospitalist, by his own report, is not real familiar with blood issues.  I figure there is more knowledge here than I can get from either of them.  Any ideas?  Similar experiences?  Would you be feeling a high level of alarm or just taking it in stride? 

HELP!  Please...

Janet (Noe's mom)

Hello Janet,

Welcome on the forum,i am really sorry to hear about your son's condintion,to be honest i am speechless for what this little guy is going through,i am really sorry i am not much familiar with what you are talking about but i'll definitely search about it and inform you if i find anything useful.
May i ask where are you located? Please wait for our administrator Andy's opinion which is always helpful and he is a very knowledgeable.

I hope we'd be able to help you.

Zaini.

Hi Janet,

Was Noe's condition apparent at birth or has it developed over time? When did he start transfusing? Does he produce higher than normal levels of fetal hemoglobin? Has Fanconi's anemia also been ruled out?

I think being under the supervision of a specialist at a blood disorder clinic would be very well advised. What part of the country are you in?

Thanks for your quick responses!  Yes, Noe was born critically anemic to a 15-year-old birthmom and was 7 weeks premature.  He immediately received a whole body transfusion and a second one about 36 hours later.  He had MULTIPLE issues at birth.  He left the hospital with bio mom 3-1/2 weeks later and she immediately went into hiding with him.  When they found him three weeks later, his HGB was 3.8 and he was airlifted to Children's Hospital in Seattle, Washington.  He was first placed in my arms in foster care but is now my forever son.  He has been under the care of hematologists at Children's Hospital ever since.  Fanconi's anemia is a new one for me -- I will have to check that out.  Yes, he does produce higher than normal levels of fetal hemoglobin.  His retic runs anywhere from 40 to 75 versus the norm of less than 2.  His body (usually) is trying hard to PRODUCE RBCs, but they are small and immature and are then destroyed.  Right now, it doesn't look like his bone marrow is doing much of anything. 

We live in the Pacific Northwest (Wasihngton state) in a medium size community and there are no hematologists locally.  We travel to Children's for our hem appointments.  He had a very extensive workup last year when he transferred to a new hematologist.  Still no answers.  This hematologist wants to lean towards PKD, but he has had seven tests - 6 were negative and 1 was questionable.  I have requested the DNA testing for PKD. 

I'm off to check out Fanconi's anemia... thanks again for your quick replies

Janet

Hi Janet,

You can read about Fanconi anemia at this link.

http://www.nlm.nih.gov/medlineplus/ency/article/000334.htm

Zaini.

My guess would be than Fanconi's anemia has been ruled out because "normally" Noe has produced higher levels of WBCs and his platelets have always been critically high.  The issue has typically been only with red blood cells.  Actually, nothing much is normal in his blood counts, but the MAJOR problem is with red blood cells.  He has had bone marrow biopsies about 6 or 7 times and the actual functioning of the bone marrow has appeared okay... up until possibly now.  He does not have any skeletal abnormalities and he has had hand x-rays to monitor his growth.  He was on steroids for 8 months as an infant as they were sure he had Diamond Blackfan, but it was eliminiated, also, and the steroids didn't do anything other than stunt his growth for 8 months and give him the typical "chipmunk" appearance. 

Thanks for the reference to Fanconi's and the link.  I am ALWAYS looking for an answer and appreciate any and all input. 

Janet

Janet,

I would highly recommend contacting the hospital in Oakland and arranging a consultation. They have tremendous experience with a wide range of blood disorders. They are also the leaders in developing new treatment programs. A visit to Oakland often turns the lives of patients completely around.

Northern California Comprehensive Thalassemia Center

http://www.childrenshospitaloakland.org/
Children's Hospital Oakland
Department of Hematology/Oncology
747 52nd Street, Oakland, CA 94609
Phone: 510-428-3885 x4398


Director: Elliott Vichinsky, MD
Contact: Dru Foote, MD, (510) 428-3347


Is he taking vitamin E and folic acid? Any supplements at all?

One more question. Has a bone marrow transplant ever been discussed?

I really don't want to speculate on what this may be because of the background of premature birth. If you check the page at http://www.merck.com/mmhe/sec23/ch264/ch264q.html you will see some examples of various causes of anemia in newborns. Even certain infections can be the cause.

Infections acquired before birth, such as toxoplasmosis, rubella, cytomegalovirus infection, herpes simplex virus infection, or syphilis, may also rapidly destroy red blood cells, as can bacterial infections of the newborn acquired during or after birth...
Rarely, failure of the fetal bone marrow to produce red blood cells may result in anemia. Examples of this lack of production include rare genetic disorders such as Fanconi's anemia and Diamond-Blackfan anemia. Some infections (such as cytomegalovirus infection, syphilis, and HIV) also prevent the bone marrow from producing red blood cells

 I would not hesitate in contacting Oakland.

Hi Janet ,
  , i hope you will stay in-touch with us ...

Best Regards
Umair

Hi Janet,

Welcome to the board.  I hope that your son's condition is quickly diagnosed and that an effective course of treatment is discovered.  I was also going to mention Fanconi's and PKD. 

Please keep us posted and let us know if we can help in any way,

Sharmin

Welcome  and please keep updating, wishing you all the luck in resolving all of this

Take care

manal
 

I am a lurker here for the information on chleating,etc. but I wanted to respond to your post.   Your little boy has been thru a lot!  Thank goodness they found him with his birth mother when they did. 

My son has a more severe form of spherocytosis & gets mulitiple blood transfusions as well.  His diagnosis is mild compared to thal major and especially your son's anemia.  However, I saw that the hospital thought your son's bone marrow might have stopped working over the weekend.  Did they check for the Parvo virus/Fiths disease?  It often causes a rash though not always in anemic patients and it can cause high temps and it temporarily shuts the bone marrow down.   The good news is that patients rarely get it more than once.

Back into lurking....

Tracy

Hi Spheromom ,
  to you  , i hope you wil find this community realy helping, caring and ecnouraging, as it is  ... feel free to ask or share anything you want to share ...i hope you will get a good response and answer of our concerns/questions,  its your own forum so dont hesitate to ask wat ever you wana know about .... soo, feel free to ask abt anything or to share your experience with us , i hope you will stay in-touch with us always ...  keep in-touch with us .... Wish you all the best for everything ..

lots of best wishes
& Best Regards
Take Care
Umair

Hello Janet,

I have heard about such case before and I am wondering of you are a memeber of the pyruvate kinase deficiency support group are?  Anyway, in case you are not this person: I am willing to ask the other lady to get in touch with you. I think you both deal with the same frustration.
I know one little girl who's bone marrow stopped working as well, and recently was diagnosed with black diamant fan.

I have read more of your posts. I think you must be the lady from the pkd support group. Janet sound familiair to me... I only thought she lived in Florida, and not in Washington state. I have been in Washington State, I love it there. A friend lives on San Juan Island, do you know that?

    

Best wishes, Dore (Peartree Girl or Elza-1987)

@ Spheromom
 

Can you help me a little, what is spherocytosis? (I should know this, but I can't remember... )

 

p.s. I got PK def. (pyruvate kinase deficiency). Nowadays I get a transfusion every 2 weeks. I don't want to make feel anyone scared, but you are sure it's not a side effect of Exjade?

Message #2:
If I am right than are high platelets related to splectonomy (spelling?). I got the same problem, they were always high.
Since Exjade started working for me, I have seen a HUGE drop in the amount of platelets. It's still in normal range, but for it's a huge drop. It went from 600 to 300. I have no idea what it can be. I have read a leaflet of Exjade where I read about a side effect that means that the bonemarrow stop working or one blood product li
ke platelets. I can't remember the right English word, but I am sure someone knows what I am typing about.


The other info I found is something that doesn't match with Noë's case, but nevertheless I will post it here

http://www.enotalone.com/article/10879.html

Very low red blood cell counts (hemolytic anemia) that can make one weak. Very low platelet counts (immune-mediated thrombocytopenia, or ITP) that cause bruises and nose bleeds, and may pose a risk for hemorrhage (excessive bleeding). Little spots called petechiae (pet-eek'-ia) may also show up on the skin when platelets are low.

Dore
p.s. I know that my English is pretty bad today; excuses-moi!