Any help...please!

[tree]

My son has just turned 8.Last october his blood tests came back that his hb levels were at 5.4(.He had prior to that for 3 years been taking iron suppliments.)Was taken into hospital and had more blood work and bone marrow aspirate done.Drs were completely baffled and still are as to what is wrong(realised it wasnt an iron defincany prob,no longer takes iron).Have gone along route of sideroblastic anemia,but have ruled that out.Have now mentioned Congenital Dyserythropoietic Anemia,but are still unsure as there are several different types.Have told us that they need to find a reserch team to research it for them,will probally need fresh bone marrow to use.My son is now on 4 weekly transfusions of pure red cells which he has been since nov/dec 2010.
My husband and i feel like the drs arent telling us everything and that we are slowly going made.
Also have concerns that he will have the iron excretion to go through at some point to.
Any bodys advice/reasurance would be greatly appreciated.

[Neil Cuadra]

tree,

I'm sorry to hear about your son's undiagnosed illness. I'm sure you and worried and frustrated, and your concerns about getting a proper diagnosis and about iron buildup are justified. It would be hard for us to second-guess the doctors who have all of the facts but we could suggest questions to ask.

Are you seeing doctors with expertise in blood and bone marrow diseases or working through his regular pediatrician? You need to be speaking to experts who are willing to provide explanatations and keep you informed.

Did they tell you the results on the bone marrow aspirate or share the report with you? I assume he had a bone marrow biopsy as well. You'd want to know about the quantity and quality of bone marrow cells, i.e., if cells are scarce or plentiful and if they are normal or abnormal in shape and size.

Are his other blood counts low or normal? Does he have a normal absolute neutrophil count (ANC) and absolute reticulocyte count (ARC)?

CDA is genetic. Is there any family history of blood disorders?

[ceee]

Neil,

I'm Tree's husband, the results from his Bone Marrow were abnormal and no they haven't really discussed this in detail. Our son is under the care of quite a well known Hospital in the UK with a dedicated Pediatric Hematologist, his results are with Oxford for research at the moment (And have been for the past 6 months). What my wife is referring to, is the shear frustration of not knowing what the future holds for him, as he is in pain most days with either aches and pains in his legs, to chest pains and more and more commonly sever headaches (inc pains in the backs of his eyes). When we mention these symptoms to the Dr, they don't shrug it off, but nor do a great deal about it.

I accept what ever has gone, we can't change, but we do need to try and find out what we can do to make his life a little more comfortable.

He's due his 9th Blood Transfusion in the next two weeks, his Hb levels are kept topped up by regular transfusion, on the last transfusion 2 weeks ago he was 6.7 before he was transfused. If we go every 4 weeks, his levels slowly creep up to 12-13 but this took best part of 6 months. During the period between his 7th and 8th BT we left it 5 weeks instead due to Bank Holidays and this had a massive effect on his Hb level dropping, this extra week took us back 4 months.

I hope this helps, to try and get a greater understanding of where we are.

[Neil Cuadra]

tree and ceee,

I understand more of your situation now. It sounds like you have medical experts on your side, which presumably means they will eventually reach a proper diagnosis. Without that there's little way to know what the long term holds for your son. That's a huge burden, as it would be to any parents with a sick child.

In the meantime, pain should not be ignored in any patient and it's terrible that they aren't paying proper attention to it. This happens far too often, which I think is because doctors sometimes concentrate on the illness more than the patient. I think it means you will have to be a squeakier wheel and be more demanding (while staying polite) as you advocate for your son. You might also look for a "patient advocate" or "ombudsman" or someone equivalent at the hospital and enlist their aid in working within the system to get more answers and help for your son. Maybe they have pain specialists who can become part of the team.

Since relief from the illness doesn't seem to be around the corner, I think you should ask about pain medications that would be appropriate. If they don't seem inclined to use them to give him relief right now, ask why not. It doesn't necessarily have to be prescription medicine, but you should have an OK before using over-the-counter pain medications regularly. Living in pain is likely to sap anyone's spirit and make them feel more helpless than they are. And when he hurts, I'm sure it hurts you too. Even having some medicine to "take as needed for pain" would give you and him more control.

Are your son's pains worse when his red blood count is lower, and better when higher? If so, he may need more frequent transfusions despite the risks such as iron buildup. Every doctor seems to have a different opinion about when to do transfusions based on HGB or other factors, and I'm sure you could influence that decision.

[ccpat]

Ceeee, to reinforce what Neil said, they told us here, at Stanford Medical Center, "it's the squeaky--that gets the attention". Our son was here for an entirely different problem several years ago, and it was true then, as it is now. Don't be afraid to ask questions, and keep asking until you are satisfied that you understand the answer.

Best wishes with your young son, and keep "in there", fighting for him! Keep asking questions until you get answers that satisfy you! We have to stand up and be heard!

Pat

[Lori. K]

Originally Posted by tree

My son has just turned 8.Last october his blood tests came back that his hb levels were at 5.4(.He had prior to that for 3 years been taking iron suppliments.)Was taken into hospital and had more blood work and bone marrow aspirate done.Drs were completely baffled and still are as to what is wrong(realised it wasnt an iron defincany prob,no longer takes iron).Have gone along route of sideroblastic anemia,but have ruled that out.Have now mentioned Congenital Dyserythropoietic Anemia,but are still unsure as there are several different types.Have told us that they need to find a reserch team to research it for them,will probally need fresh bone marrow to use.My son is now on 4 weekly transfusions of pure red cells which he has been since nov/dec 2010.
My husband and i feel like the drs arent telling us everything and that we are slowly going made.
Also have concerns that he will have the iron excretion to go through at some point to.
Any bodys advice/reasurance would be greatly appreciated.

Kinda sounds like what I have my bone marrow doesn't produce red blood cells and I need blood transfusions every 4 weeks

[ceee]

Ok, nearly 18 months later my son is still having blood transfusions (now every 3 weeks). He has been on Desferral for 7 months and now just started Exjade instead to reduce the burden of such invasive treatment on a 9 year old. The Dr's still don't have conclusive evidence as to whether or not he has Congenital Sideroblastic Anemia or similar. We are now 2 years down the line from when all of this started having had 3 bone marrow biopsy/aspirates with possibly another in the pipeline. Is this normal or should we be shouting at the roof top? We frequently visit 2 hospitals, one for blood draws and transfusion and one for clinic consultation. Whilst at the most recent clinic consultation we were told the specialist looking at his aspiration have not come up trumps and they're now gonna start all over again. This filled us with sheer frustration.. Whilst I want them to get it right, I never envisaged it would take this long just to confirm whether or not we can look at a cure longer term. I may appear to be venting somewhat, but I feel so disappointed having put so much trust in the Dr's and don't know what to do.

I'm happy we've started on the Exjade for my sons benefit as this removes nightly needles and noisy syringe drivers. But can't help but think this is reactive rather than planned care after months of struggling.

Another part of me tells me I should be greatfull and not to question the Dr's authority.

[ceee]

Also waiting on a T2* MRI scan, I was told this is quite important yet it has taken nearly 12 months to date to try and get an appointment.

[Neil Cuadra]

ceee,

There's nothing more important than taking care of your family and I know you are doing all you can for your son.

It's hard to fathom that you still don't have a definitive diagnosis, much less a treatment you are confident is right for your son.

Having so few answers after this long is very unusual, but having more than one bone marrow biopsy in a year is not. Whenever bone marrow failure is suspected, what's going on in the bone marrow is one of the biggest clues to what is causing the symptoms. I lost count of the number of bone marrow biopsies my wife had the first year or two, but those observations of changes in her marrow led us to modify her diagnosis and treatment, and that paid off.

You don't always have to be able to name the disease or disease subtype if you somehow know what to do about it (the best treatment), but it's rare that you can determine the right treatment without first knowing what disease you are battling.

The key to knowing whether a medical test is warranted is to ask the doctor "how will the results affect treatment?" If the answer is that it won't affect treatment then the test may be unnecessary. It seems likely that a test required to assign or confirm a diagnosis will affect subsequent treatment, which is why you always start out with so many tests. Over time the question becomes "what new information will we get from another test and how will it help?" Subjecting a child to bone marrow biopsies is something we'd all like to avoid, but I'm not surprised to hear that your son has required a number of them.

For what purpose do they plan to give him the MRI?

One of the frustrations of bone marrow lab results is when they come up empty due to a lack of cells to examine. Without cells to study they can't learn much. Is that what happened to your son? If they found cells to study and didn't find anything wrong with them then that's good news, even if it doesn't help explain the symptoms. And if they found cells to study and claim (as before) that his bone marrow is "abnormal" then let's get specific; what's abnormal about it?

Your son's doctors may be perfectly competent but still don't have enough clues. If it was me I'd take the medical records to another center (a third one in your case) to ask for another opinion. Bringing the records avoids having to undergo more tests. Sometimes another doctor will see things differently, based on different patient experiences or areas of expertise, and will have another approach to suggest. When you are working with multiple doctors they should be talking to each other, and I hope that's what is taking place.

[Chirley]

That's a long wait for an MRI. T2 machines are relatively common, the T3 machines a little harder to find.

Perhaps there's just a long backlog of patients needing MRIs.

[ceee]

The bone marrow results have identified iron deposits in his bone marrow which is been ejected from his blood cells. As a consequence he has blood transfusions to replenish his blood cells which are dying quickly as a result of the lack of iron. Now my understanding is he has iron build up from the blood transfusions as well as the iron deposits in his bone marrow which are otherwise referred to as ringed sideroblasts. I hope I've got that correct.

[startrek6]

Sad to hear you situation. Only I can understand what you are going through. My new born girl is suffering from similar situation of suspected congenital sideroblastic anemia, low MCV, high iron parameters, constantly dropping hemoglobin, low retic, but ruled out thalassemia. She is on monthly blood transfusion support since her birth on 11-07-2015. The doctor has planned BM aspiration at 10months of age.

Would you like to give any advice to avoid multiple bone marrow aspirations?

[Neil Cuadra]

Originally Posted by startrek6

Sad to hear you situation. Only I can understand what you are going through. My new born girl is suffering from similar situation of suspected congenital sideroblastic anemia, low MCV, high iron parameters, constantly dropping hemoglobin, low retic, but ruled out thalassemia. She is on monthly blood transfusion support since her birth on 11-07-2015. The doctor has planned BM aspiration at 10months of age.

Would you like to give any advice to avoid multiple bone marrow aspirations?

startrek6,

It's most important to find out what to do for your daughter, so some tests will likely be necessary. With any test, however, it's worth discussing and understanding the need for the test ahead of time. Tests, especially invasive or expensive ones, should be given only when they can produce information that can determine treatments.

I suggest that you ask if anesthesia will be used for the bone marrow aspiration procedure, which this article says is routine for infants. If you seek a second opinion on her condition, my advice is to get copies of test results (including the bone marrow aspiration) and take them to the other doctor, rather than letting any tests be repeated.

[Hsb]

Hi there. I have a child with the same diagnosis and would be interested in getting in touch with other parents. Is it possible to send a private message here?

Originally Posted by ceee

The bone marrow results have identified iron deposits in his bone marrow which is been ejected from his blood cells. As a consequence he has blood transfusions to replenish his blood cells which are dying quickly as a result of the lack of iron. Now my understanding is he has iron build up from the blood transfusions as well as the iron deposits in his bone marrow which are otherwise referred to as ringed sideroblasts. I hope I've got that correct.

[Neil Cuadra]

Originally Posted by Hsb

Is it possible to send a private message here?

Yes it is.

See How do I send a Private Message to another member? in the FAQ.