Soooo confused! Thanks for your help.

[sneipp]

Hello! I am new here and am hoping I am at the right place. We are in the process of diagnosing some mild bone marrow issues with my three children, and we have two different opinions from two different hematologists. One is saying chronic benign neutropenia, and the other is saying Shwachman-diamond-like syndrome. The reason why most of our doctors say CBN is not a good enough diagnosis is because between the three of the kids collectively, they have all three blood cell types flagged low (not just neutrophils). My middle child is the one who has flags on all three cell lines, but all only mildly low. For example, a typical CBC: WBCs 2.8, neutrophils 1.3, platelets 120, RBCs and hemoglobin/hematocrit just below normal. Are these numbers even low enough, in your opinion, to put a bone marrow dysfunction disease on the radar? The one hematologist who wants to label them CBN told us to go home, don’t worry anymore, don’t check blood anymore, they are perfectly healthy, don’t even bother to do a CBC more often than once a year. Would you agree, seeing my son’s counts? Do you know, if they have a fever, is there a safety protocol that should be followed? (The three kids’ ANCs are almost always between 1000-1500). Thanks so much! As you can see, I am really confused and don’t know how seriously to take all of this.

[Marlene]

I'd find a third doctor. And would want to rule out or confirm genetic causes. Any toxic exposures that you can think of? I assume they checked their iron, B12, folate, B6, copper and zinc levels. Low-normals should be further investigated.

Have they been normal up to now or is this something that's been going on for a while. If it's recent, I would try to figure out what changed/happened that effected all three. Viruses, vaccines, other illnesses, ongoing infections, etc.

The 1.0 -1.5 ANC should be enough to fight off any cold/flu. But in the case of a high fever or prolonged fever or re-curring fever, I would take them in to the doctors to be checked.

[Neil Cuadra]

Hi sneipp.

Are there any other bone marrow, blood, or immune system issues in your family history?

I can understand why you find yourself in the gray area. CBN affects the white count and that's the primary symptom your children have, but their other slightly low counts seem to indicate that more is going on.

You might ask the hematologist who called it CBN if he/she considers it primary or secondary. Secondary CBN is more likely to need treatment. Are your children very young (under 5)? If so, some primary CBN can resolve on its own, leading a doctor to recommend a "wait and watch" approach. But of course you'd want to be sure of the diagnosis. And if your children are older then you may need to act. Marlene's suggestion to get another opinion makes sense.

Shwachman-Diamond Syndrome is a recessive genetic condition, so disease-free parents who both carry the gene may have children expressing the condition. Signs of SDS in children include difficulty with digestion, frequent infections, and less than average growth. Have you observed these symptoms?

[sneipp]

Thank you to both of you for your help sorting this out! We have been slowly working our way through the diagnostic process for five years now and it has been a frustrating journey, to say the least! My children are 16, 13, and 9. All three have mild neutropenia, two have digestive issues (pancreatic insufficiency) two have mildly low platelets (like 120s) and all have flagged mildly low RBCs. We discovered the low CBC flags in my 16 year old first 2 years ago, and then my 9 year old daughter half a year ago, and then my 13 year old son shortly after that. I think for me, it's not so much that I want clarification on a label as much as I want to make sure we are not missing the boat on anything in terms of being safe and getting the right treatment. For example, our doctors disagree on whether this is Shwachman-diamond or CBN. If it is SDS, there is a component of possible leukemia which makes me think they should get BMBs, but the hematologist would not order them. (Saying they have CBN so don't need them. Is this true of a CBN diagnosis, that they usually don't do any BMB ever?) Another thing I need clarified is what the protocol is for fever and mild neutropenia. (ANCs always between 1000-1500). This hematologist said if they get a fever, don't worry about it - their neutrophils work fine and they always step up to the plate when need be with CBN. Don't even bother to draw blood or give antibiotics. (He is going off the fact that even my 16 year old has hardly ever been sick.) Is this protocol okay with mild neutropenia and fever? One last question (Thanks so, so much!!!!) He said go home and do NOTHING. Only draw blood once a year. That's it. Is that okay too with CBN. Is that typical? Just draw blood once a year? You don't know how much I appreciate being able to ask these questions! Thanks a million for your time!

[Neil Cuadra]

From what I've read, Shwachman-Diamond Syndrome seems to fit what you describe, particularly due to the pancreatic insufficiency and apparent genetic origin.

I'm not a doctor, just a caregiver who reads about bone marrow-related diseases, but I don't understand why the doctors disagree. If it was me I'd be wary of doing no further testing for a year.

Bone marrow biopsies are minor surgical procedures. They can be unpleasant and involve a small risk of infection, so no doctor wants to do them unnecessarily. That's one reason a doctor may recommend only regular blood tests or observation of symptoms. If your children continue to have only mildly low counts are are living with neutropenia without actually getting sick, there's a case to be made for avoiding "unnecessary" tests as long as they stay healthy. The trouble is that the diagnosis is in doubt.

With SDS, doctors may recommend blood count checks 3 or 4 times a year and bone marrow biopsies every year or two. Before putting your children though that, I'd talk to the doctor who thinks it's SDS and ask what a biopsy would tell you, what treatments would be considered, and how the test results would affect that decision. It's safe to assume that what's wrong with one of your children is the same as what's wrong with the others, so perhaps the doctor will recommend a biopsy for just one of them, even if SDS is only strongly suspected.

Have you contacted the Shwachman-Diamond Syndrome Foundation?

[sneipp]

I truly appreciate your thoughts, and what you say makes sense. We have been in touch with the SDS foundation, and that has been helpful. The doctor suggesting SDS is actually our GI doctor, so he can't actually deliver the diagnosis - we need a good hematologist to sort this out. The reason why our current hematologist didn't lean toward SDS, even though they fulfill diagnostic criteria, is that they "look too healthy." It is true they hardly ever get sick. I guess what I am trying to figure out is.... if indeed it is CBN, is this doctor reasonable to not want to do at least one BMB - you answered that for me and I appreciate your take on why he may have been reluctant. But like you said, the "trouble is, the diagnosis is in doubt". Makes sense. What do you think is more typical - that a doctor DOES or DOES NOT order a BMB if CBN is suspected? Also, was wondering if his fever protocol (do nothing, don't even draw blood) is reasonable in the case of mild CBN. Bottom line is, I am trying to decide if this doctor is reasonable and trustworthy, or whether we should just find a new hematologist. If he is not being reasonable even with his protocol for a typical CBN patient, (let alone an SDS patient) then for sure we should move on. Thank you again for your help. So much!!!

[Hopeful]

Hi sneipp,

I would recommend consulting with an expert in rare bone marrow failure diseases, if only to rule this option out! Dr. Neil Young at NIH is very interested in this area. You could drop a note to his nurse Barbara explaining the situation, and they will determine whether your case is compelling enough to pursue. With NIH, all medical expenses are paid.

Dr. Jason Gotlib at Stanford is another more local option to consider for a second opinion, assuming your insurance allows.

Unless the doctors that you have consulted with are experts in SDS and other rare genetic bone marrow failure diseases, I would seek out a second opinion from someone who is!

[sneipp]

Dear Hopeful,
I wish you the best, and continued health! Thanks for the suggestions on doctors - I wrote down the names and will definitely look into it if we get nowhere here. Our first hematologist was at Children's Hospital Los Angeles, but our local GI is trying to get us in at Stanford to see a "Dr. Glader", who supposedly knows more about bmf diseases. But it will be a fight with insurance due to HMO. I will jot down Gotlib's name too. Thanks so, so much!

[Hopeful]

Hi Sneipp,

I looked up Dr. Glader, and he is THE MAN to see! Check out this bio:

http://c3dibd.org/AboutCIBD.html

Dr. Gotlib is great but I forgot that you need someone in the pediatric department.

When I was in an HMO, I called the benefits department and asked for a "one time referral to someone out of network". Explain that your children may have a rare genetic disease and that there are no experts within your HMO. Say that you will only do a consultation and that you will follow-up with all tests/labs at your HMO. This worked for me.

Best of luck! It sounds like your on a good track to finding answers!

[sneipp]

You are AWESOME! Thank you for looking him up for me. Helps so much to be able to trust someone's expertise. I checked out that link you sent me (had never seen it before) and low and behold that center is located out of Orange, California, where I have family living. So if we needed to head that way in addition to Stanford, this would be helpful. I cannot tell you enough how much I appreciate your support, and will continue to keep you in my prayers!