Hello!! and a bit of advice wanted.

[alyc]

Hi,
My son is 2 year old, and has always been sickly in fact i can't pinpoint any given day in his 2 years of life he hasn't had something, even if it was just a cold..
He was born at 30 weeks and did really well to begin with, until he came home... he then had severe GERD and lost a lot of weight, was diagnosed with craniosynostosis, which i really had to fight for his diagnosis as our regular paed didn't know anything about it, and swore that his skull shape was down to him being a prem baby... he was so wrong, and had surgery in november, and then the general illnesses..

He caught cryprosporidium in december last year, followed by acute pneumonia and had some blood tests done because it just wouldn't shift..
They came back with normal levels of IgM, but abnormally low levels of the other immnioglobins.
The paed ordered a full immnio subset, but then was unreachable (despite calling the secretary every other day)... we had the bloods for the subset eventually done last week as he caught cryptospoidium again, and ended up being admitted to hospital.
No one else in our family gets ill, just my youngest son, and we've been told its probably a PID.

I've been told the subset won't come back for several weeks, which is really irritating as it should have been done months ago, and I'm so worried about him.

fter looking online, i found 'Hyper IgM syndrome' which my son fits in the majority of the symptoms for..

is there anything else that it could be? do most PID show the same sort of symptoms??

its just the normal levels of IgM and abnormally low levels of the others that made me wonder about Hyper IgM and tbh I'm quite scared for him

Sorry if I'm waffling, its difficult to put so much info together in a first post, but any advice would be fab, as i just feel like I'm constantly chasing the paed to do things, and i just want him sorted.

Aly

[prickles]

Hi Alyc

Welcome to the forum, I don't know anything about 'Hyper IgM' (others will come along that do), my daughter had 'Hyper IgE', but I do know that a diagnosis can take a very long time. My daughter is also the only one in the family that has a PID.

Have you been referred to an immunologist yet? If the peads are thinking along the lines of a PID then they should have done this.

You will probably have to keep chasing the medics and fighting for your son it is something we have all had to do at times.

Hope he is feeling a bit better at the moment. Keep us posted as to how things go.

Welcome once again.

Sue

[alyc]

thank you so much for replying, I'l be honest, our paed is a waste of space... they told me there was nothing wrong with little mans head, turned out it was something quite serious that required 6 hours of surgery

She did the bloods back in december, and casually told me at the next appointment that he had low levels of certain Ig's...
I asked her what it meant and she said... il repeat it when he doesn't have crypto as that might be what it is... after reading up online, i don't think a batch of crypto could cause some of those levels, with some being literally non existent.

im not sure why the subsets are taking 2-3 weeks to come back, maybe because they are more in depth, but its heartbreaking watching my son so poorly all the time.

when the bank holiday is over, i will be calling her office every day to make sure she's referred us to an immunologist, even though the recent bloods aren't back, i still feel the wheels should be set in motion. I wish i could change paeds but its a small hospital and she's the main one there... hopefully he'll be sorted soon.

how long did it take your little lady to be properly diagnosed??
i just feel all i do is chase the hospital at the moment. x

[prickles]

Caitlin was diagnosed when she was about 2, but that was not due to the NHS. She was poorly from birth and was seen by an NHS dermatologist until she was 3 months old, he then discharged her and said she would grow out of the problems. She never slept and had really bad skin. We were at the end of our tether when we took her to see one of our GP's who was not happy that she had been discharged by the dermatologist and said she would refer her back, as this could take some weeks we asked to go private which was a godsend.

The Consultant we saw (and still see occasionally 15 years later) was brilliant he got on top of her problems and when she started to suffer with abcess on her head he quickly realised what the syndrome could be and referred us to the immunologists who we have been seeing ever since.

We still have the odd issue that I have to chase but on the whole the medical side is ok. I am having more problems with the education system!

I hope the problems with your little one's head is now sorted. When you get the referral to the immunologists will you have to change hospital? if so it may be worth seeing if you can see the peads at that one.

Sue

[s162216]

Hi,

Firstly welcome to the forum, I hope you'll find it useful and supporting.

Most antibody deficiences present themselves with similar symptoms, generally depending on the antibody(s) the person is deficient in. For example as IgA protects the upper respiratory tract in mucus etc then IgA deficiency can result in recurrant upper respiratory tract infections. IgG is the most important IG though as it is the most abundant and protects most compartments of the body, so any deficiency is a serious problem. IgM is a bit of a misnomer though to this classification as it is quite unspecific compared to IgA and IgG and is expressed during the initial immune response so its not as important. With CVID (the most common PID except IgA deficiency), the person will be deficient in IgG and usually (but not always) IgA and/or IgM. I myself am deficient in all three so it varies person to person.

Hyper IgM or CD40 Ligand Deficiency to give its proper name, can easily be identified by the levels of CD40L. This is an important protein as all antibodies are initially produced as IgM and then swicth class to IgG, IgA etc under the influence of CD40L so obviously a deficiency will result in low levels of these. It can also be identified by genetic test as the mutated genes are known and is the 'gold standard' for diagnosis. An immunologist will likely send off a blood sample to Great Ormond Street Hospital for the gene test to confirm any antibody PID diagnosis as sometimes conditions can look very similar to one another.

CD40 ligand deficiency is very rare (even compared to XLA and CVID) but overall it presents itself very similarly to other antibody PID's so don't start worrying that your child may have it, wait for all the test results to come back first and especially don't start scarring yourself reading the internet about these conditions as they usually sound much worst than they are.

It can take a while to get antibody level test results as its not a commonly ordered test so only certain regional centres do them and the test itself can take a little while. Push to get a referal to an immunologist as they will know what their doing unlike most other medical specialities as in depth immunology is not part of standard UK medical training.

Hope you find this useful,

Sam

[alyc]

thanks sam and sue.
yes my sons head problems are all sorted for now, thanks to GOSH, who i basically forced the paed to refer me to in the end (they are a supra centre, and specialise in craniofacial surgery)!!!
as he's under GOSH already for his head, and hearing, i wonder if i can get a referral to an immunologist there, it might be worth a shot.

We live in the south west, and i know derriford in plymouth have an immunology department, so i presume it would be sent there?

[prickles]

Hi Aly

We also live in the South West and go to Bristol Hospital Immunology Dept, They also do a clinic in Musgrove at Taunton that we attend.

As you are under GOSH already it may be worth while trying to get referred to there.

Sue

[alyc]

Jacks most recent bloods have come back...... eek...... the doctor i spoke to said: there are quite a few anomalies so il get the consultant to give you a call... :S bit scared

[alyc]

managed to make the secretary tell me the igg... which was 6.2 apparently.. she didn't know if it was low or high, and refused to tell me the other values. x

[alyc]

apparently the igg overall is ok, but are decreased in some of the subclasses?? I'm so confused!!! ida and igm were both low, but not majorly...

[s162216]

Theres 4 'subtypes' of IgG: IgG1, IgG2, IgG3 and IgG4, each of which are present in differing amounts and locations so thats whats being referred to. 6.2 is a bit low overall for IgG but not very, generally over 8 is the accepted limit (mine was 3 when I was diagnosed with CVID). I'd predict from that (based on what I know!) its a selective IgG subclass deficiency rather than CVID or CD40 ligand deficiency. The treatment for that is generally daily antibiotics rather than IgG replacement if that makes it feel any better.

Sam

[alyc]

thanks sam I'm still waiting for the consultant to call to run me through it
its put my mind at a little more rest reading your reply thank you
Aly

[liz2mac]

Hi Alyc, welcome. I'm so glad you've found us and have already got some really good advice and support, the folk on here are both caring and knowledgeable, all of us either have a PID (primary imune deficiency)ourselves, or else care for someone with a PID. One of the first things we try to say to newly diagnosed people/parents is "don't panic"! Whilst many Dr's know very little about PID, the body of knowledge here means that you are definately not alone. My advice would be to get yourself referred as quickly as possible to the PID team at GOS who are wonderful and have heaps of experience. The advantage of keeping all the care under the one hospital roof (as it were) is that they will have immediate access to his notes, saves your time and frustration levels, plus they really do have enourmous amounts of experience. I know that all the different things you are being told are so scary and confusiong, but the main things you have to hang on to is, that there is a treatment and with treatment we all live relatively good lives. The earlier people are diagnosed, the better quality of life people have, so the fact that you have managed to stand up for your son and get him diagnosed so quickly means that you have given him the best chance possible. I imagine that one of the things that will be suggested to you is having antibioticsw available to Jack at all tims. Whereas the general population are disciouraged from having antibiotics too often, we have to have them regularly and sometimes permanently. I can only imagine the turmoil you are going through, but be assured we will support you through all of this.
Liz

[alyc]

right this is what the consultant has said:
igm and iga are a little low:
igm: 0.4 (norm: 0.6-2.2)
iga: 0.29 (norm: 0.4-1.2),
igg overall is fine (6.1 (norm 3.1-13.8)
but some of the subclasses are low (she wouldn't tell me which ones or the values)

CD3 and CD4 are really low...
CD3: 996 (norm: 1400-8000)
CD4: 503 (norm: 900-5500)

and platelets are up: 576 (norm: 150-400)

theres also cd3:cd4 ( i think its the ratio of cd3-cd4) which is 1.3 but she didn't say if this was normal or not.

Also his creatinine and urea was very 'up'... does this relate to his kidneys??

urea: 8.9 (norm: 1- 4.4)
creatinine: 44 (norm: 21-36)

[glowing]

Please can you tell me if igm 0.25 and iga 0.66 are acceptable levels for each.
Glowing

[alyc]

i think the values are based on a 2 year old child on the blood report... so not sure.. you can find the normal values online though for an adult. x

[liz2mac]

Hi Alyc,
I admit that I find all of the test result numbers very confusing. I can only hope that you are able to talk to a Paediatric Immunologist really quickly. Let me try to turn some of what you have been told into lay persons language. Whilst IgG is the easiest immunoglobulin to be replaced, it does not mean that IgG is the only immunoglobulin that will cause us real health issues if it is either not present at all or is present in less quantities than is deemed "normal". Lack of IgA can lead to a lot of infections, but it is simply not possibly for this to be "given back to us". I see that there is some talk of subclass deficiency. This is usually subclasses of IgG and a deficiency of one subclass can lead to significant health problems.
So, a discussion of the results with a Dr who is dealing with us all the tiem is very necessary. If other Dr's try to understand, diagnose and treat, it will almost inevitably result in a very poor outcome for the person concerned.
My understanding is that urea and creatinine is to do with the kidneys, what these results indicate (apart from the fact that somthing is not right) I wouldn't like to speculate.
Let us know how things progress?
Liz