Living with Primary Immune Deficiency

Introduction:

Primary Immune Deficiency (hereafter referred to as "PID"), is a little known and under recognized chronic medical condition  that can go undiagnosed, or wrongly diagnosed for years, even decades.  I wasn't diagnosed with it until my late 40's.  I had been told for many years that I had other conditions instead.  Fortunately they are now starting to test newborns for this disease as medical professionals are becoming more aware of it.

Most people, unfortunately, are not diagnosed with this until they reach their later years, unless they're very, very ill and are hospitalized frequently.  Most of us who have it have struggled through life, dragging ourselves to work, wondering why we get sick so easily, and so often.  We encounter problems at work due to missed days, we feel awful so our productivity can suffer and we go along the whole time with this nagging feeling that something isn't quite right, even though our doctors say there's nothing they can really pinpoint.  Since the symptoms can be so varied and so differing in intensity, it is easy for an untrained doctor to misdiagnose someone with something else.  Many have been diagnosed with chronic fatigue, chronic sinus problems or recurring bronchitis.  In reality, these are all part of the medical condition called Primary Immune Deficiency.  To make diagnosis even more complicated, there's more than one type of Primary Immune Deficiency, and to the extent that you have it, decides whether you'll receive treatment for it (of course, the insurance companies can play a role in the decision also, as treatment is very expensive).  A very good website for information is http://primaryimmune.org/

What I'd like to do as time goes on is relay to you my experience with being ill for so many, many years, how I was finally diagnosed, and how the treatment I have had to be on has not been without its difficulties.

Chapter One:  What are Primary Immunodeficiency Diseases?

I think the first step is to become better educated.  With this in mind I'm going to make today's installment on giving you educational material so that you can better decide if PID is something that you or a loved one may have.  The following is the description of PID from the Primary Immune Deficiency's website: 

 "Nearly everyone has suffered from colds, the flu, or sinus and ear infections. Just as many have been affected by cuts, scrapes and abrasions that become infected. Even in the case of more severe infections – such as pneumonia – we expect the cough and congestion to ‘run its course’, aided by prescription antibiotics, over-the-counter symptom remedies, and our body’s own immune system.

Recovery times vary, but the human body can usually rid itself of the infection-causing germs, and work to defend against future “bugs” and viruses. There are, however, instances in which the body cannot recover, and some of these apply to individuals with a primary immunodeficiency disease.

Primary immunodeficiency diseases occur in persons born with an immune system that is either absent or hampered in its ability to function. While not contagious, these diseases are caused by hereditary or genetic defects and can affect anyone, regardless of age or sex. The World Health Organization recognizes more than 150 primary immunodeficiency diseases – some are relatively common, others are quite rare. Some affect a single cell within the immune system; others may affect one or more components of the system.

And while the diseases may differ, they all share one common feature: each results from a defect in one of the functions of the body’s normal immune system. Because one of the most important functions of the normal immune system is to protect us against infection, patients with primary immunodeficiency diseases commonly have an increased susceptibility to infection.

The infections may be in the skin, the sinuses, the throat, the ears, the lungs, the brain or spinal cord, or in the urinary or intestinal tracts, and the increased vulnerability to infection may include repeated infections, infections that won’t clear up or unusually severe infections. People with primary immunodeficiency diseases live their entire lives more susceptible to infections–enduring recurrent health problems and often developing serious and debilitating illnesses. Fortunately, with proper medical care, many patients live full and independent lives."

If you would like a more in-depth discussion on the various types of immune deficiencies, go to this link:  http://primaryimmune.org/about-primary-immunodeficiency-diseases/types-of-pidd.  This link has  too much information to relay to you,  but you'll find it important to go and read if you suspect PID.

I hope you find this information helpful.  Now that you have read about PID and become better educated, I will discuss what I, personally, had to go through to get diagnosed and to receive the proper treatment I needed.

 

Chapter Two:  How I was diagnosed:

It took me a long, long time to get diagnosed.  Before being diagnosed, I had 8 sinus surgeries culminating in a bilateral frontal sinus obliteration because they just couldn't get the infection out of my upper front sinuses, especially the left one.  My Ear, Nose and Throat doctor (hereafter referred to as "ENT")  was afraid that the infection was going to get into my brain being that the frontal sinuses are so close to the brain barrier, so we opted to go for the frontal sinus obliteration.  Believe me, that was NOT a nice experience!  

My ENT had always wondered why I got so many sinus infections even though he had done so many surgeries that he said my sinuses were "wide open and should drain like a sink".  I counted one time and I had 24 sinus infections in three years!  As I look back on it, I believe it was a constant infection that would just get knocked down with the latest round of antibiotic (the only thing that worked was Cipro), and then it would gradually re-establish itself.  My ENT told me later that bacteria can actually get into the sinus bone and it's very hard to kill, so it was probably just knocked down to re-grow later.  The purpose of the frontal obliteration was to get rid of my sinuses and now I haven't had another sinus infection.  To read more about bilateral frontal sinus obliteration go here: http://uwmedicine.washington.edu/Patient-Care/Our-Services/Medical-Services/Otolaryngology-Head-Neck-Surgery-ENT/Pages/ArticleView.aspx?subId=212

I also had bronchitis many times, and even when I didn't have what was considered to be diagnosable as "bronchitis", my chest always felt like it was on the verge of going into bronchitis.  This baffled my family doctor because he'd listen to my chest and he said I sounded fine.  However I knew something was just not right.

How did I finally get diagnosed?  Just prior to going in for my frontal sinus obliteration, my ENT decided that enough was enough and that there had to be something "not right" with me, given my many sinus surgeries and infections, and my feeling bad all the time.  He suspected there was something wrong with my immune system and sent me to an immunologist for testing.  When I got there they explained the procedure for seeing if my immune system was working properly.  They'd take some blood from my arm in order to establish a base line, which they did.  Then I got two shots:  a tetanus shot and a pneumonia shot.  I was told to return in one month.  When I did, they took more blood in order to see whether my body had mounted a response to the tetanus and pneumonia shots I had previously received.  It turns out that my body did develop antibodies to the tetanus shot but did nothing to try to fight off the pneumonia shot.  I don't understand all the technical details of what else they looked into when they did all my blood work, but it ended up with me getting the diagnosis of Primary Immune Deficiency. 

 I believe I mentioned earlier that there's many types of PID, and the diagnosis I was given  was "Combined Variable Immune Deficiency" (CVID).  I won't go into detail here on what that specifically means because I believe the Primary Immune Deficiency website I gave you earlier gives a much better and more thorough description of describing all the different types of PID. Here's that website address again:  www.primaryimmune.org.  I was rather shocked to get this diagnosis but it did answer a lot of questions about why I always felt so bad. 

 One of the other symptoms I've always had is extreme fatigue, and while my immunologist doesn't feel it's a symptom of PID, many folks on the PID forum  (http://idffriends.org/forum) also complain that it's one of their problems, also.  And it would make sense to feel tired a lot, if your body is trying to constantly fight off an infection that it cannot.  I've been on treatment for about 4 1/2 years now, and I still struggle with fatigue, although it's not as debilitating as it used to be.  For a long time I spent a lot of time in bed, could hardly get through the day I was so tired, and ended up having to go on disability because I couldn't continue to work at my private practice.  Now,  I still struggle with fatigue but as long as I can take a nap in the afternoons I don't feel as bad.  However, I'm not at the point where I can go back to work.  So I spend my day doing a little bit of work on my blog, do a little housework, cook dinner for my husband and always take my afternoon nap.  I've found that if I don't take that afternoon nap, by 7 p.m. or so, I feel really bad and end up going to bed and tossing and turning until I can finally get to sleep.  So, for me, I've found that I still need to take that afternoon nap.  While I don't have a "normal" life and can't do things others can,  it's better than it was.  I've had to struggle with having this disease and all the discouragement that goes along with having it, but the PID forum has been a big source of support and encouragement for me.  I would strongly suggest that you visit the forum, even if it's just to get more information.  There are forums around the world for those diagnosed with PID, so keep in mind the website address I gave you is for the forum here in the USA.

While this is how I'm having to deal with my PID, others can resume their normal work activities after they begin treatment and start to feel better...some have never even had to stop working at all, they just make time during their daily lives to do their treatment.  So, as I've said previously, it all depends upon your body and how it handles your PID and, of course, the treatment regimen you are on.

I will go more in-depth on the treatment regimen I was started on at the beginning and the trial and errors I went through until I found out what was best for me.  Until next time...
 

Chapter Three:  My treatment begins:

After I was officially diagnosed my treatment began.  I began by receiving medication called "immuneglobulin" which is antibodies that are taken from the blood given by blood donors.  There are many  different trade names and there's several companies that manufacture it.  I started to receive this medication intravenously, and this method is often referred to as "IVIG" (intravenous immuneglobulin, or sometimes people refer to it as "IGIV").  This a picture of a person receiving their medication via IVIG:

This can be done in a hospital setting or in a doctor's office.  Unfortunately, some will have reactions to receiving the medication this way, and usually have to make sure they drink a lot of water prior to receiving their IVIG,  and may have to self-medicate using a combination of medications such as Tylenol and Benadryl.  The process of receiving the medication can take from 2 - 4 hours, usually.  Most people who receive their medication this way receive it every 3 - 4 weeks.

However, there is a way that one can self administer their medication, called Subcutaneous Immuneglobulin (SCIG).  A nurse usually comes to your house and trains you how to self administer your medication and your medicine is sent to you from your pharmacy or doctor's office.  Or you may be trained on how to self administer your medicine by your doctor at his office.  A lot of people find this method a lot more convenient as they can set aside time according to their own schedule in the comfort of their own home.  Also, many find that they feel less side effects from the medicine doing it this way.  A lot of insurance companies are pushing for patients to learn how to self administer as it cuts down on the costs overall.  For those who self administer, they usually do it once or twice a week.

Above you will notice that on the body diagrams there are places marked.  These are places that is appropriate for your needle insertion.  Here is what the end of my needle looks like and you can see it is very small.  I only have to use one needle while others choose to do their infusion faster and use more than one infusion point (see above as the picture shows the individual doing it into two places)

Unfortunately, having the medicine sensitivities that I do, I did not do well at all when getting it IVIG.  It treated me badly and I had severe myalgia, headaches and back pain.  My doctor changed me over to getting my medicine via SCIG, and even then I still had problems.  I found I could not receive my medication in large doses, once or twice a week.  Through a lot of trial and error, I've come to discover that I have to self infuse on a daily basis, and I have to have my pump turned down so low that it usually takes me about 4 1/2 hours daily to infuse all my medicine.  Below is a photo of the SCIG pump I currently use:

So, while getting the diagnosis can be difficult in of itself, finding the right method of administering the medication and the infusion rate can be tricky, also.  Hopefully you will have a good team working with you and they can walk you through the trial and error that comes along with learning anything new.  Good luck and may your health improve greatly!!