Any drs , nurses or anyone got any opinions on this please?

[summerdreams]

I have a 17 month old son, born at 33 weeks at 4 months old whilst in hospital for apnea they discovered he was neutropenic anc was 0.5 untill he was 9 months he never had an infection but was under heamatology. From 9 months old he's had 11 ear infections, tonsilitis x5, a uti and tons of viral infection they also discoveres he has low immunoglobulin but good vaccine responses, persistent thrombocytosis and Enlarged platelets. Bone marrow biopsy was booked but then cancelled as his neutrophils went up. His anc goes between 0.2 and 1.6 highest allways when ill and lowest when well they've described it as his bone marrow only remebers to fuction when he's ill and gets lazy when he's well. At the minute the diagnosis is Hypogammoglobulinemia, persistent neutropenia and thrombocytosis. Everything points to a bone marrow issue. We are not aloud out to packed places and every temp over 38.5 lands us in a&e for bloods. He's unwell 90% of the time at the moment. He also takes azithramycin 3 days a week which has made no diffrence does anyone have an oppinion on this ive been told if he got a bad infection he wouldnt be able to fight it as neutrophils only go to 1.6 and that wouldnt do much . I live in fear and im terrified something bads gonna happen and know ones got any answers has anyone got any ideas ? Thanks

[colleysmill]

Ok I'm not a medic (but ago) but azithromyocin is a drug used very commonly in children to prevent repeated chest infections -particularly in children with respiratory problems. It's not a medicine that is generally prescribed by GPs imo. I think looking at your ds history I can understand why they are prescribing it.

[colleysmill]

But ahp that should read!

[Wolpertinger]

I take it you've seen an immunologist?

This is highly highly specialist territory so doubt people will have answers here but the good bit is he's already got to 17 months and is carrying on growing. They will get more information and be able to clarify his diagnosis as he gets bigger. Things like ear infections and tonsils will also have more solutions when he is bigger.

My experience is with adult medicine not paeds and I would say not to panic - the fact he does make neutrophils at all is more than some and it's actually perishingly rare for 'something bad' to happen when someone has neutropenic sepsis when they get prompt trratment which it sounds you are totally on the case for.

[Wolpertinger]

colleysmill makes a good point - the azithromycin may actually be doing a really good job if he isn't getting bacterial chest infections.

[colleysmill]

Posted too soon.

It all sounds very worrying (as a parent) - are the hospital team giving you support? Is there a team looking after him?

[Lilybensmum1]

Your poor little lad what a lot to deal with, that's a lot of factors preventing/complicating his ability to deal with infection. Has he had the bone marrow biopsy yet? as it sounds the doctors just have a working diagnosis so far based on his current tests. Not sure anybody other than a haematologist could answer your questions.

It seems you are aware of the precautions needed to protect your ds as best you can, you know the signs and symptoms that could indicate infection and you know when to get help. I guess a diagnosis this difficult will take some time to confirm and only then will you get definitive information.

I would think its normal to worry about the worst happening as its down to you to take action if you are worried about your ds, have you been referred to any specialist centres? This is a very specialist condition so be cautious of taking advice from non medical people. It sounds like you are doing a great job, it must be frustrating to deal with this daily. Do you have support in RL ?do you have other DC? I hope you soon get a diagnosis, we all know this is the worst time of year for picking up infections and illness, roll on summer.

[Wolpertinger]

Good point again - is there a specialist nurse you can talk to or have you been given details of any charity that supports parents in this situation? If not - ask!

Also have they suggested what they think the outlook is. Again, I want to stress I deal with adults not children but googling it suggests that for some children the immune system is slow to mature and they grow up to have a normal immune system. I don't want to raise your hopes when this might not be the case for your DS but have they hinted or could you ask if they think this will be the case for him or do they just not know yet? With kids, often the answer comes with time as they get bigger.

[summerdreams]

We see immunology, heamatology and a general pead. We've been tested for wiskott aldwich and numerous other auto immune problems all negative thankfully. My problem is he seems to have stopped gaining weight and just looks so sickly now I've been told bone marrow testing may happen soon but at the minute they'll just try and manage him but in so scared they're gonna find something bad that will mean he needs a transplant. It's very hard to watch him every illness seems to hit him worse then the one before since a bad case of gastroenteritis he seems to have stopped gaining weight and there's little information out there and none of its good I don't know what I'm asking really just is there anything this could be that I havn't heard of before thanks for replys

[Wolpertinger]

Just remembered - in terms of charities and helplines I think these are the people you are looking for:

www.piduk.org/

A friend of mine has an immune deficiency and supports them. There's lots of info on the website for parents with newly diagnosed children as well as a helpline.

[summerdreams]

wolpertinger thanks no there is no charities for this and the nurses only give medical advise if he's unwell. They thought he might grow out of the hypogammaglobulinemia by school age but as the neutropenia is not autoimmune they have no idea basicley it's just so hard Hes wrapped in a bubble and Is still always unwell I can't see how this is gonna carry on.

[summerdreams]

Oh thanks yes ive had a look at pid but it's the neutropenia I was on about thanks though I should really contact them it would be nice to talk to some one

[summerdreams]

Oh and were under gosh for everything so we're very lucky to have the top people dealing with it.

[Wolpertinger]

I'd suggest it would be worth giving them a ring - they will be used to supporting people who maybe are the only people with that diagnosis. It sounds like you really need someone to talk to with real life experience of parenting a child with immunodeficiency.

The best thing is if they can get weight on him (go with it if they suggest NG feeding) as so many things like ears get better when they grow bigger. Has he seen ENT about his ears? May also be worth doing if it hasn't been done already - based on a friends child with a heart problem whose growth was stopped when he got himself a rare ear infection. He needed specialist ENT treatment. So that would be something new to think about if they haven't already.

you sound such a lovely mum

[summerdreams]

I asked my gp to refer me to an ent only this week as he's had the same ear infection for a month after 2 courses of co amaxoiclav and they said they know why he's getting the ear infections they won't refer he seems to have been hanging Around the 24lb mark since his first birthday but he'll be back with immunology in February so I might ask if they start him on Ivig as it was discussed at one point. Thank you for your replys wasn't sure I'd get any I will contact pid on Monday

[Wolpertinger]

I think you and your GP are right - yes it maybe that the ear infections are entirely due to the immunodeficiency but surely it's also worth finding out whether there's any odd anatomy in his ears that makes him more prone to infections, pockets of infection that aren't get cleared out by short courses of antibiotics, especially weird bacteria growing there or any lasting damage being done to his ears - these are all questions I would ask by the way.

Haematologists and immunologists are some of the most intelligent people I have ever met (I did a degree in immunology, all of which I have now forgotten) but the specialist ones do have a tendency to be incomprehensible to normal humans and sometimes close off more obvious answers that aren't to do with their specialty.

I think pushing for a paediatric ENT opinion is a good move. Maybe followed by general paed to ask about weight and feeding - don't forget the general paed who will be good for a lot of the common sense basics the superspecialists might forget.

[hollinhurst84]

I am neutropenic level of 0.3 when last tested. My diagnosis is autoimmune neutropenia so the blood testing found anti neutrophil antibodies. I didn't have the biopsy as consultant tries to avoid them and it seems I kill my neutrophils off despite producing them
Have they mentioned GCSF? I inject it (lenograstim) weekly and it's raised my count to 3

[hollinhurst84]

Oh and I know I'm an adult but I have fought off some bad infections etc when neutropenic at 0.3, it just takes more antibiotics for me and steroids if it's chest infection/pneumonia

[summerdreams]

One thing I was thinking is he has severe gerd and I know that it can cause ear infections. he's actually going into have a impedance study, endoscopy and colonoscopy as he's on full meds and at 17 months with no resolve. I agree about the ent I'll ask his pead about the ent allthough to be honest she's not great she seems to just say he'll grow out of it which the specialists strongly disagree with

[summerdreams]

hollingurst84 thanks it's nice to hear from someone going through it. we know it isn't autoimmune as he's had 3 tests and they're allways negative for the antibodys and know they have never mentioned Gcsf as his counts usually go up with infection just not properly. Yesterday we spent the night in hospital with a temp of 38.7 but his anc was 1.2 so we were aloud out with a diagnosis of viral tonsillitis as his glands were massive.

[summerdreams]

Oh also hollinhurst do you get bone we have had recurring bouts of reactive arthritis his joints become very hot and he stops being able to walk it's usually his knees and angles but also sometimes his wrists they've said its just another type of infection but it's scary to watch.

[hollinhurst84]

Might be worth asking about. It keeps my counts fairly steady
Tonsillitis is definitely one I get when I'm low, am prone to that and chest infections
If you have Facebook, search autoimmune neutropenia support group, they're really friendly and mainly parents, lots of knowledge about all kinds of neutropenia on there

[summerdreams]

That should say bone pain

[hollinhurst84]

Bone pain yes but hard to say what causes it as the GCSF does give me quite severe bone pain

[Wolpertinger]

You do know that if you ask 3 doctors, you'll get 4 opinions

General paed may yet prove to be the voice of common sense, you need a balance between ivory tower world and feet firmly on the ground - the answer is usually somewhere in the middle.

Patients often ask me if I have experience of whatever their rare condition is - usually the answer is no - and they are ready to write me off but I say I do have lots of experience of their symptom so we muddle along together and usually do alright.

I'd ask about GCSF and immunoglobulin infusions (which he doesn't seem to be having either) and try to get them to explain exactly why they don't think they are a good idea right now. Endoscopy and colonoscopy does sound like someone is worrying about his weight which is good. Is he seeing a deitician - again, if not, why not? He needs that too.

[summerdreams]

Hollinhurst84 I really feel for you wAtching my son go through this is horrible even small things like ear infections hit him so hard with rediculous fevers and no one realises they seem to think tonsillitis and ear infections normal childhood illness but everything seems to really take it out of him.