Input, advice or simular situation

[lizab]

My son is 15 years old and last November he discovered two large lymph nodes in his groin area which led us to his pediatric's office and then to Hem/Onc at Nationwide Childres Hospital where he has been seen for the past year and most recently to NIH in Bethesda Maryland. Anyway.....the lymph nodes resolved within a month but in the mean time lots of labs had been done. He was presenting with some mild cytopenias (WBC and Hemaglobin). The levels were monitored for several months remaining stable but mildly low. In March of this year he had his first BMB which showed low cellularity (30-35%) and normal cells. No MDS, no malignancies, and no AA. Long story short he just had his third BMB showing the same thing. He also has no or low iron stores. Tired, pale, frequent headaches and stomach aches but otherwise healthy. No diagnosis!! Last visit was in Maryland at the NIH where I thought we would find something out to only find out what I already Knew. Family history - Brother with non-hodgkins lymphoma, dad with ALL. The doctors are telling us that we are now waiting for something to happen.....cellularity to drop or blood levels to drop. I am desperatly asking for some advice, input, or anything from someone that has experienced a simular situation.

[edithr]

Hi Lizab, and welcome to the forums.

I am in a similar situation with my son. He was diagnosed nearly four years ago with SAA at age 15, and is now considered to have "bone marrow failure not otherwise specified". His counts are low, his celularity is low, and he gets yearly marrow biopsies (on top of frequent blood work). We too are just waiting to see whats going to happen, they've told us that "something is cooking but we don't know what yet". It's wears you down, the worry.

For a long time I would wake up every day and my first thought was, "is today the day he gets sick again?" I went to counseling, and his suggestion was to assume each day was his last healthy day and enjoy it. I know it sounds like a cliche, but it has worked for us.

By the way, I live about an hour and a half from you, and my brother in law and father in law both had leukemia.

So sorry you're going through this, prayers are being sent.

[Julianna]

I'm sorry you're going through this too. I started to have problems when I was 20. Every journey is so different. I'm on watch & wait right now too. Apart from some nasty infections I'm quite well Inbetween. Uncertainty is killer! I do struggle with it sometimes. All any of us can do is be thankful for today. Hang in there xo

[lizab]

Thank you both so much for your reply. I am sorry you both are experiencing a similar situation. The unknown is terrible. I am so tired of the "watchful waiting". I would love to talk to you more Edith if you could contact me on my personal e-mail and maybe we could exchange contact information. Where is your son being treated? Thank you both again for your replies and I will you all well. God Bless!

[Barbara K]

Sorry to hear about your son's situation. My spouse has been on watch and wait for going on three years now, and his former and current hematologists seem to think that he could remain stable for years. The details are in some of my other posts in this and other forums.

Can you say more about the doctors' perceptions of the causes of your son's low iron stores? My spouse's iron stores, too, have been very much out of whack--ferritin supplies almost depleted, etc. He's taking serious iron supplements which have helped bring up his RBC counts to near-normal levels, but he still struggles with fatigue, headaches, and what I perceive to be digestion/absorption issues despite turning up w/ negatives on tests for celiac and that sort of thing.

[lizab]

Hi Barbara. Sorry to hear about your husband. We have only been doing this for a year.....I can't imagine 4. I am happy to hear through all of this he has remained stabled as my son has. Regarding the low/no iron stores we haven't exactly received any information as to a cause. They are referring him to a gastrointestinal doctor for this issue and said they didn't feel the iron has anything to do with his low bone marrow cellularity. I myself don't fully believe that. I will definitely update after we see the gastrointestinal doctor. My son has been on a high dose of oral iron with no obvious improvement in hemoglobin levels. He has also had low levels of NK function. I really don't understand what we are "watching and waiting" for? It kind of makes no sense why we would wait for him to get sick for treatment. Does your husband have any blood cancer history in his family? My oldest son has non-hodgkins lymphoma and their dad had leukemia. I don't ever feel I get answers at the many appointments we attend I feel we just get results. Thank you for you input.

[Barbara K]

I don't know of any blood cancer in his family, but my husband's main problem is neutropenia and hypogammaglobulenemia (his serum protein electrophoresis tests come back abnormal, as do specific tests for IGG, IGM, and IGA), and his own father has always gotten sick a lot w/ respiratory type infections, and he mentioned having problems w/ anemia as well. Meanwhile, his mother has a lot of digestive type problems--irritable bowel, etc. And she has arthritis, a mild case of which my husband has (and they both have some psoriasis). So maybe something inherited is going on.

The doctors here also didn't seem to think there was a connection between his pancytopenia and hypocellular (for age) marrow and his low iron stores (ferritin around 4 upon diagnosis) and other abnormal numbers on various iron-related tests. His copper was also right at the bottom of normal, btw. So they ended up saying he had nutritional anemia (we don't eat meat) exacerbated by blood donation (he never donated that much, though), and that he also had suspected mild AA. To my mind that seemed too much of a coincidence. Nutritional anemia plus AA? Unlike your son, though, my husband did see his RBC levels (and hematocrit, etc.) improve to near normal levels as a result of taking the supplements, but they still remain below normal. And it just doesn't make sense that someone who eats an extremely well-thought-out diet would've ended up so extremely iron-deficient if something wasn't wrong w/ his absorption. He doesn't imbibe caffeine, for example--none of the usual red flags that might result in low iron.

As for learning to live with watch and wait, first let me say directly that for our situation watch and wait is good news. It does mean that they don't know quite what the problem is, which I'll acknowledge can be worrisome on the level of wondering whether we should be doing something we aren't. So I definitely keep an eye on these forums and other sources of info, just to see if any clues might pop up worth pursuing. But my husband is over 50, not 15; he's my husband, not my child; and he doesn't have an older brother or father who had cancer. So the tremendous stress and anxiety you are feeling is more than understandable and certainly exceeds my own.

Your son's doctors may have reason to feel confident that something more is developing, but maybe they are also just less inclined to offer up an optimistic view than my husband's doctors have been? My husband's former hematologist told him that she had a patient with a profile similar to his who had been stable for over 10 years. I took a lot of comfort in that. All the same, I talked with my neighbor, a geneticist, about my proclivity for doing internet research (albeit from good sources such as this forum and actual medical journals that are available online), and he endorsed doing it, including my ongoing speculations about the possible role that nutrition/absorption issues might be playing in his bone marrow, blood production, and immune system. He said that even very good doctors still have their attention split among many, many, many patients, and that a diligent family member can often be the person who helps connect the dots.

Just as one example, I remember reading one time a medical journal article that speculated that maybe the human body naturally reduced its iron stores as a way of fighting off cell mutations, something like that. Since that time I've never managed to dig up more information that might clearly help me connect the dots in my husband's case, but it's clear there's just a lot they still don't know about the underlying causes of various bone marrow failure diseases. So that helps me stay reconciled to watch and wait, too. We're watching over our loved ones and waiting eagerly for new medical research to unfold.

Take care!

[Cheryl C]

Lizab - so sorry to read about your son. It would be extremely difficult having to deal with these problems in your child. I guess the only comfort I can give is that strangely, you can get used to "watch and wait" especially if your son remains relatively well - but how does he feel on a day to day basis?

Barbara - I am surprised that your doctor would diagnose your husband with 'nutritional' anaemia. That seems ignorant to me. I am also vegetarian except for very occasional fish (and don't drink coffee or alcohol and have never been a smoker). I have many friends with a similar lifestyle who don't have any blood problems at all. My impression from research I've done is that just as many meat eaters suffer from anaemia as vegetarians and possibly even more, as vegetarians tend to eat a lot of fruit and vegies which give them the ascorbic acid (Vit C) to enhance iron absorption.

My red cells (3.2) and haemoglobin (108) aren't much below normal and like your husband quality iron supplements don't make any difference to the levels, though taking iron does help me sleep better.

Does your husband have regular IgG infusions?

[Barbara K]

Hi, Cheryl--Yes, I agree that calling my husband's problem "nutritional anemia" seems off-base. Actually, the GP he first went to when he was turned away from blood donation due to a low hematocrit was very insistent that he needed to have additional testing when his lab work showed pancytopenia precisely because he said that healthy middle-aged men don't just turn up with anemia or pancytopenia because they eat a vegetarian diet. It's the hematology folks who came up w/ the combined AA/nutritional anemia label. For a while, too, we were focused on MGUS (monoclonal gammopathy of undetermined significance) b/c my husband had a small monoclonal IgM spike. But after about a year that went away and now he has a polyclonal IgM spike, which is less worrisome. No, so far no infusions for the IgG. The clinic notations just say that they are an option for in case he decides he wants to give them a try or they decide to encourage him to do so. After hearing what you've had to say about how they've helped, I'm going to spend some time reading up on them. Hope all is well!

[Cheryl C]

Hi Barbara - FYI there is some info about the IVIG therapy here:

http://primaryimmune.org/treatment-i...bulin-therapy/

Occasionally I have a slight headache the next day but it's not even bad enough for panadol. The only time I had a bad reaction was when I was travelling and had an infusion in Darwin which was run too fast (280 dpm) - my normally very low blood pressure shot up to 180 and I was about to black out when I called for help. Because IgG is quite viscous 240 dpm maximum is the standard. I have 60 dpm for 15 min, then 120 dpm for 15 min then up to 240 for the rest of the time and that works well. The dosage is calculated according to your body weight.

Again I highly recommend that your husband give it a try if you can gain approval from his haematologist. After 2 years I tried to have a 3 month break just to see what would happen, but the 3rd month I started getting infections and felt as unwell as I had before I started. My globulins had dropped to low levels again. My specialist said that hypogamma doesn't go away and I can expect to need 4-weekly infusions for the rest of my life.

I look forward to hearing how you get on with this!

[lizab]

I spoke with the doctor about my son's last BMB results. They said he has some characteristics of GATA 2 mutation (low bone marrow cellularity and decreased NK function and low peripheral cell lines of one or more). They are doing sequencing and this takes several weeks. Have any of you heard of this?