Just Diagnosed at 35

[CVIDprincess]

Merry Christmas everyone!

I am new and this is my first post.  I have been reading through so many forums over the last six months and by far this one gave me sense of community right away and I am hoping that I can be a part of that.  I see this forum is based in the UK, but I also noticed participants from other countries as well.  I from Canada and from what I understand our medical system fairly similar.  

My Coles Notes:

I am 35 and have never felt "well" my entire life.  Always needed much more sleep than others and when I got colds, the flu etc. I was always sick for min 3 weeks to months.  After the birth of my child in 2002, I started to have low back problems which at first was a disc issue, but then later the pain changed and became widespread.  In 2005 I started having on and off positive ANA (Anti Nuclear Antibody) tests.  When they were positive, Dr.'s said I had Lupus and when they were negative I was told I had Fibromyalgia.  Go figure!!  In 2008 I was "officially" diagnosed with Fibromyalgia and from that point I did seem to get better for awhile. Thrrough all of what I am sharing I continually had long lasting colds and what I call the stomach flu.  Always started as vomiting, fever and diarrhea followed by a chest cold, cough and stuffed up nose.  

In 2010 I was in a bad car accident, but luckily walked away with no broken bones, but damage to muscles and tendons in my ankles, knee, hips and neck.  In 2011 I began a desk job (Financial Analysts) to get off the road as my former jobs (over last 5 years) required me to drive long distances several times a week.  To back up just one step, while I was driving, I started to have these episodes where I could not stay awake no matter what I did and routinely had to pull over and take a 20 minute nap.  This started to happen so often that I began building the 20 minutes in my time travel because I expected it. Okay, back to 2011 and my desk job.  At this point I was still falling asleep during the day and then began experiencing acute pain in my neck, shoulders and mid back. Because I was working at a computer all day and had this prior car accident, I just assumed the neck/back problems were because of that.  

After a year and a half of physio, massage, chiropractic, acupuncture and IMS, the pain never went away. I finally went to my family Dr. in December 2012 and he ordered a bunch of blood work that showed once again a positive ANA test, so once again I was off to the Rhematologist.  As luck would have it, this guy was double certified as an Immunologist as well.  At first he said Lupus given the test and all of the other autoimmune symptoms I was having (I won't bore you, but willing to share if asked). I was tried on Plaquenil (anti-malaria drug) and this made me incredibly sick, so back to the Rheumy.  

I had more blood work done since and this time he noticed that my IgG and IgA levels were below normal and decided to try me on IVIG (the scary thing is that these levels were below normal several times in the past and it was always dismissed). I did my first round October 18, 2013 and I was said to have had Aseptic Meningitis from it, but I declined the spinal tap because that scared the hell out of me.  Following this I started Hizentra 40 grams per month SCIG on November 6th and I seem to be tolerating it okay, but I can only infuses 2 grams 5 times per week; otherwise, I get awful headaches. I saw my Rheumy on December 4/13 and my IgG level were up in the 11s, but my IgA was below normal and he said I have CVID and Undifferentiated Connective Tissue Disease. Oh, I am also apparently not immune to the mumps.

I was shocked about the CVID dx and my history with infections seems low grade compared to what I read about CVID. The main thing keeping me from working is chronic pain, nausea, chronic fatigue which I attribute more to be autoimmune - I think? Since starting SCIG two months ago I have somewhat increased energy, but still can only do things around the house for a a few hours each day. Going out to get groceries is about all I can handle in one day.

Questions:

1.  I often wonder if I really do have CVID. Does anyone have a similar story to mine where their infections have not been severe, have not been hospitalized etc.?

2.  In the last 6 months I have had a bladder infection and 4 days ago acquired a cold.  I realize SCIG is supposed to reduce the amounts of infections which I know it has due to other viruses that have gone through my household, but will SCIG improve my fatigue and body pain to a level where I could go back to work?

I know that nobody can 100% answer these questions, but I guess I am just looking for similar stories and experiences to help me cope.

Thanks,


Robyn

[elained]

Hi Robyn, and welcome.

I live in the US.

I didn't have the severe infections with hospitalizations, but always had 'stuff' and lots of unusual infections. Generally always tired.

Diagnosed with autoimmune conditions long before the CVID was identified.

I started subq (called Subcut here) at the end of August, but after 11 infusions, couldn't tolerate the immune reaction I had 48 hours after each infusion.

My Immunologist put me on IVIG, and I medicate constantly with Methylprednisolone (Medrol) which keeps the immune reactions at bay.

I wasn't diagnosed with CVID until I was 69, and didn't start treatment until after I turned 71.

Welcome again. Also the Immune Deficiency Foundation in the US, runs a good discussion forum.

Hugs, Elaine

[glowing]

Hi Robyn. Welcome to the forum and Merry Christmas to you too.
I was diagnosed with CVID just over two years ago after ten years of uncontrolled asthma. Any infections I had would be considered low grade but my breathing difficulties were far more serious and I had to take steroids for most of the time. It was only after all the treatment they could offer to ease the asthma had failed that they tested me for CVID. I wondered if the immunologist had made a mistake because I hadn't been as seriously ill as many other PID sufferers describe, although just like you I suffered fatigue for years. The immunologist told me his diagnoses was based on my low IgG and IgA results but didn't say much about fatigue or my arthritis, which is quite severe. The immunologist and those in the know on the forum explained they don't offer treatment without being absolutely sure as it is so expensive.

My health has improved greatly but it still doesn't take much to tire me, though not in the same way you describe. (My husband, like you, used to suffer a similar degree of exhaustion but he has been diagnosed with sleep apnoea and uses a mask at night.) I can't comment on the idea of you returning to work as I was unable to work for many years and am now retired. However, I imagine at this stage it would be difficult for anyone to know how much you might improve as everyone's condition varies so much. Some of the members who know far more than I do will be able to give you useful advice. Every one of us understands how you feel and have experienced that initial shock, disbelief and disappointment...you name it, we felt it... when first diagnosed.

I wish you good health for the new year. Please keep us up to date with news of your health.

Best wishes,

Glo

[elained]

Oh, Robyn, I forgot to say that the diagnosis first became "real' in March, and I fought it every step of the way.

I was just sure that either it wasn't accurate, or that I had a special case and mounted immunity in spite of the numbers.

It wasn't until I had the Pneumovax, and had exactly ONE immunity of the 21 strains of pneumonia I was vaccinated with. CLEARLY my immune system wasn't doing a very good job at all.

I didn't even UNDERSTAND that IVIG wasn't just 'injections' at first. And when I found out what the treatment really is, and how costly it is (here in the US, and probably everywhere actually) I was dumbfounded.

It took lots of support and advice from these wonderful people for me to accept what was going to happen. The actual infusions and now IVIG are easy compared to the part before, getting used to the idea, the reality.

I'm glad you can to the subcutaneous infusions, tho' you have to do them almost every day it sounds like. Some people actually prefer that, I've learned.

Anyway, it's a long strange trip, but one that is made much easier by friends on the same journey.

Hugs, Elaine

[s162216]

Hi Robyn and welcome to the forum,

The CVID diagnosis may seem like a shock to you, but not everybody who has is necessarily has serious infections, or requires hospital treatment for them, its more the concept that suffers get more frequent and/or unusual infections that take a long time to go, or require drug therapy. Its better to find out sooner than later though as unfortunately CVID has a habit of being almost entirely normal, and then suddenly rapidly going downhill.

I myself was in a similar position to you about three years ago when I was unexpectedly diagnosed as I had only required a stay in hospital for an infection once (when I was 3), and didn't consider myself to have more infections than normal although my immunologist was concerned that I usually had about 2 chest infections a year in addition to 1 or 2 upper respiratory and/or skin infections as that was beyond what was considered normal as she put it. I was found to be pretty deficient in all 3 major immunoglobulin classes, and no longer had any immunity to anything that I had been vaccinated against (except tetanus, which is quite a useful one!). Since I started on IVIG 3 years ago I have had very few infections compared to before (usually only 1 or 2 a year).

The main problem with CVID is that there is no simple yes or no test, its a "diagnosis of exclusion". Basically if you have reduced immunoglobulin G, increased infections etc, but are found to not have XLA (which can be screened for genetically and also is characterised by a complete absence of B cells) or CD40 ligand deficiency (also known as Hyper IgM syndrome - this can also be screened for and is characterised by a deficiency of CD40L which enables immunoglobulins to switch class from IgM [which all start as] to the others) then you have CVID. Vaccinating for a disease and then measuring for the specific antibody titre produced a set time later can also give an idea as to how the patient responds to infection (as obviously if you have an immune response problem then you can't respond against the vaccine and then will produce less antibodies against the vaccine)

CVID is actually a collective term for many different immunodeficiency conditions which have the same clinical symptoms, but for different reasons (e.g T cell problems, B cell problems, faults in any stage of antibody production and many others) which cannot be differentiated between at the moment, and is likely the reason as to why patients usually differ so much. Unfortunately because of this, only a few rare forms have had their genetic mutations characterised so it can't be screened for either currently.

As to how much the SCIG will help improve your condition is unfortunately something that can't really be answered as everone responds differently, but I would not expect the results to be instant, and it can take over 6 months before the benefits become clear. After about 3 or 4 months I certainly started feeling 'different', but at the time could not really work out why, and later realised that I did not feel as tired as before (I used to feel very tired at school and absolutely shattered at the end of the day) although that could have just been a 'placebo' effect. On the upside though I certainly did not have as many infections which was definitely real!

I hope that things start to improve for you, and the SCIG starts to work (I'm curious by the way, do you do it as an infusion everyday, or just as an injection as I have heard that so called 'rapid push SCIG' [where you do a daily injection] is starting to become quite common in Canada?). Remember that we are all here to help and support you. If you don't understand anything that I've said above (as a science graduate I can get a bit technical sometimes!) then just say and I'll try and help.

Thanks, and hope you've had a good Christmas!

Sam (Admin)

[CVIDprincess]

Thank you everyone for your generous comments.  My 4 day old cold is now a 17 day old cold which is why I have not responded until now.  I am sure everyone can relate  .

Sam: To answer your question, the SCIG infusions that I do at home are not done with a pump, yet I would not say it is a rapid push either.  I only infuse 10ml or 2g per infusion/day and I do this by attaching the 10 ml needle to a 30 cm long tube that is winged and has a very fine needle attached.  Once the needle is in place under the fat, I infuse the Hizentra in over about 20 minutes. I have done it over 10 minutes, but I found that it hurt more and the volume created too much of a bump under my fat that when I pulled the needle out, the Hizentra just ran back out.  I am 5'9" and about 135 lbs, so I do not have a lot of fat on me to begin with.  I am thinking that the Hizentra would be more easily absorbed if it went into a fattier area (not that I want to have one of those either).  

According to my infusion nurse, SCIG is still fairly new to Canada.  The City I live in is only 400 km north of Toronto, Ontario and it was a really big deal for me to get this product here.  The blood bank at the local hospital (which is quite a large centre) was uncomfortable at first dispensing it to me because they had never done it before.  I find it odd that this illness is so unknown and misunderstood by even medical professionals.  Some of my disbelief of whether I require the Hizentra or not comes a lot from my family Dr. because I don't think he believes in the diagnosis.  He told me that any questions that I have, I have to ask my Immunologist because he simple does not understand it. 

I am also aware of the cost of this product, especially for those folks in the US; however, in Canada it does not cost me personally one cent to be on this.  Is this also the case for the UK?  I am not totally familiar with how the health care system works there.  For those in the US cursing me right now, I will comment that you have much more of an advantage over being able to put yourself in front of the right Dr.'s than we do.  I am lucky to even have a family Dr.  as most in Ontario do not because of a Dr. shortage.  It also takes on average 1 year to get an appointment with a specialist and you had better hope that you like your Dr.'s and they like you because there is no option to "shop around".  In some cases where patients are considered too high maintenance, family Dr.'s are "firing" their patients so that they don't have to deal with them anymore.  Given all of this, we tippy toe around our Dr.'s.  It is not the way it should be, but I guess this is the trade off for free health care.

A few questions:

1.  Has anybody noticed hair loss as a side effect from IG replacement therapy?

2.  Because of your immune deficiency, when you get colds, does your Dr. automatically assume you have a bacterial infection and are you most often treated with Antibiotics?  I ask because in Canada Dr.'s rarely give out antibiotics anymore based on a long history of overuse (I was on Tetracyclin for 2 years for acne in my teens).  I find I have to constantly go back to my Dr. about my colds and it is not until I have had it for two months do I get treated with antibiotics.  This causes a great deal of agony because I know the cold is going to last months and it almost seems like a game we have to play, but in the meantime I have to suffer through it and it can't be that great for my body either.  Needless to say, either are antibiotics, so where do we fit on the spectrum of being a "special case" and how do we educate medical professionals on our condition without being condescending?

Thanks,

Robyn

[s162216]

Hi Robyn,

Sorry I didn't see your reply here or I would have tried to answer your questions sooner. What your describing is effectively rapid push SCIG, they tried it in the UK a few years ago when SCIG stated to become common as there was a shortage of infusion pumps, but the patients found it very uncomfortable and its been completely abandoned here to my knowledge (and also more simpler, cheaper clockwork pumps became available).

Its the exact same in Britain, the IVIG/SCIG doesn't cost us anything at all, and exactly like Canada practically all healthcare is free (minus dental [which is subsidised and charged on a standard rate if you go to a dentist which accepts NHS patients] and optical except in Scotland). To my knowledge though in the UK you can choose a different GP if you live in their 'catchment' area (for instance I live in-between 2 villages which both have a doctors surgery and I could register as patient at either), and doctors are not legally allowed to exclude you unless you've been abusive to staff (although apparently some over-zealously use this as an excuse to get rid of patients - I don't know quite how true that is considering its been in the press and you can never really be certain how truthful what they say is). There are sometimes long waits to see specialists, but for immunology theres generally not that long a wait as its not as commonly referred to as most specialisms.

I've never heard of hair loss being a side effect from IgG therapy, and looking on the summary of product characteristics sheets of some IgG products none of them have mentioned it, if your concerned about it then I would discuss it with your immunology doctor as it could be a symptom from another condition like hypo-thyroidism (brittle, thin hair is a common symptom of that) for instance.

Regarding antibiotics, I've always been told that in case of any acute infections then a lengthened course (10 - 14 days) of antibiotics should be prescribed first as a precaution, and any sputum etc should be sent away to the lab to be analysed, and if an infection cultures from this and its found to be more responsive to another antibiotic, or be viral in origin then you should be switched over to an alternate treatment. If nothing cultures then just take the rest of the antibiotic course.
It might be a good idea to ask your immunology specialist to send a letter to your family doctor saying that you need antibiotics, are a special case etc; I know that my GP has a message automatically flash up saying that when they read my patient notes. Antibiotics won't help with colds (there is practically no real treatment for them), but upper respiratory tract infections usually come hand in hand with colds so you may well develop one of them (and which antibiotics will help with). The IgG does definitly help with colds (for me at least) as I used to get a cold which lasted all winter, but since being on IgG they only usually last a short time, or I don't even develop one.

Hope things are going well for you, and you find the above useful,

Sam

[Stuey]

I was diagnosed mid twenties but was not hospitalised, I would regularly get chest infections that the usual course of antibiotics cured but one year I had a pretty bad infection that I couldn't shift, it turned into pneumonia (was signed off work for 7 weeks) then it developed into Pleurisy, at this stage lots of x-rays were taken of my chest which showed signs of shadowing.

From there I had a lymph node sample taken and the initial diagnosis was it was potentially Sarcoidosis, this was quickly ruled out and a further biopsy was taken and I was tested for Lymphoma. After a few agonising weeks it was suggested I was tested for CVID (Common Variable Immune Deficiency) and it was here I finally got a positive diagnosis.

Due to the disease I also contracted lower leg cellulitis in both legs which required lengthy hospital stays and to this day I still suffer occasionally with swelling and fluid build up.

I have been infusing now for around 6 years mix of intravenous and subcutaneous injection home therapy, I am now fairly stable and have the experience to know the warning signs for when things are not right - which I think is a key part of effectively managing the condition.

Hope you might find any of the above information useful.


Stuart