A Long Slow Slide

Well, for the last 6 months I have been more sick than I have ever been in my whole life. I began IVIG treatments here, in New York, in early February. Since then, I have had 5 colds and 4 bouts of stomach virus/food poisoning. Right now, my colon is twisting itself in knots…I have horrendous gastrointestinal issues. The immunoglobulin doesn’t seem to be doing much good. Granted, everyone else I know has been quite ill this winter/spring and they all have healthy immune systems. But I feel like my GI tract is really malfunctioning.

Now I don’t produce any IgA, the most common protective antibody for the colon, so I guess this is to be expected…but it really sucks.

My health really seems to be in a serious state of decline. I have an appointment scheduled this week with my immunologist to discuss diagnostics and next steps. I will let you know what she says. I’m afraid I may have colitis.

 I am having a hard time dealing with this decline. I have an image of myself as a rugged outdoorsman, backpacker, camper, swimmer, etc. Now I feel like that life is permanently over. I don’t ever forsee being healthy enough to even go to the gym. I’m even thinking about quiting my job, I just don’t have the energy anymore.

I watch my 15 month-old daughter scamper around the house and I doubt that I will ever be able to coach her softball team, teach her to ride a bike, show her how to pitch a tent.

I’m only 44 but I sit here with no answers, with no success, waiting out a long slow slide.

Into what?

There is nothing attractive about that future.

When does Idiopathic = Autoimmune

From a recent comment:

“I was diagnosed with ITP – Ideopathic Thrombocytopenia Purpura in December 2005 and then CVID in October 2006. I’ve been on IVIG for 12 months (started out 5 days per month – now it is down to 3). My trouble is the ITP which causes the platelets to destroy themselves – and in between IVIG I must still take steroids. My hope is to get rid of the ITP and of course if I didn’t have CVID they would have removed my spleen.”

It seems that a number of conditions that are labeled “idiopathic” are actually thought to be related to autoimmunity. It seems likely that the guest above has antibodies to her platelets. The antibodies wrongly destroy the platelets and thus make it difficult for her body to stop bleeding. My immunologist is reluctant to make a diagnosis of autoimmune urticarial (hives). This is frustrating because I have be getting them every day now for over a year. I get the sense that a diagnosis of autoimmunity is considered by her to be a diagnosis of exclusion. And there does seem to be a test to determine if I have an autoimmune response. I’m not sure why all the reticence to declare a condition autoimmune. Perhaps the tests are of questionable validity, perhaps the options for treatments are relatively ineffective or maybe doctors want to look at every other possible option first.

The question is how many of us who are diagnosed with idiopathic conditions actually have wonky immune systems.

Teenage Immuno Ninja Turtles

Check out this hysterical video that used real life versions of the Teenage Mutant Ninja Turtles to describe immunodeficiency. It takes a couple of minutes to get to the good parts but it’s worth it.

Visiting the Ass Man

For those of you who don’t understand the Seinfeld reference in this posting’s title, I visited the gastroenterologist today. I was referred by my immunologist. I had had three successful IVIG infusions and it was time to figure out why I was still experiencing all these crazy symptoms. The best place to start, she asserted, was with the colon. People with CVID often have issues with gastrointestinal infection, inflammation, etc. because they often don’t produce IgA (I know I sure don’t). IgA are the antibodies that primarily protect the colon from infections. She believes that something may be going on in my colon that is stressing my immune system.

So, off I went to see if we could start to determine why I have chronic hives and now arthritis. The doctor said that a CT scan showed that I had enlarged lymph nodes in the fat around my colon and it looked like this tissue was inflamed. He doesn’t think that he will find anything related to my hives but is still going to do a colonoscopy of my small intestine to make sure. I asked if there might be any infections that would cause hives and he was doubtful.

Once again, I have no real answers about the cause of my hives but I will keep trying. I don’t really have a choice.

The Idiopath abides…

How to Live your Life with CVID

For the past 6 months I have been freaked out about my diagnosis. I was really sick in March; I came down with a really bad lung infection secondary to a cold that I had caught from some family members. I developed swollen, painful nodes, my hives went into overdrive, I was dizzy all the time and my knees, elbows and hip joints began to swell and get painful. Additionally, I developed acute pain under my left rib cage. I felt like my body had just decided to fall apart.

In the meantime, I was getting bored with my job. I had held the same position for almost four years. I was feeling unchallenged, under appreciated, micromanaged and generally unhappy. My wife implored me to find something new. “Quit and I’ll be your sugar mama until you find a new job,” she would regularly say.

But I had great insurance and was not in the greatest health. I had just begun successful IVIG treatments, at $10,000 a pop that stuff ain’t cheap. Also, I was having CAT scans, expensive blood tests, regular visits to the emergency room. I felt like my health was a huge question mark and I didn’t want a change in insurance to suddenly cost me exorbitant amounts out of pocket. Additionally, I had great long term disability insurance. If I need to be out for extended periods receiving chemo for lymphoma or colon cancer or whatever, I would be well taken care of.

But as the docs look at me (and keep looking) they don’t find anything worrisome about my condition. I have no signs of lymphoma. I have no symptoms that could be construed as some sort of serious autoimmune disorder like Sjogren’s or Lupus or MS. I have your basic run-of-the-mill CVID issues…

and I have always had a dream — to live and work in New York City.

The doctors are still trying to find out why my hives are so bad and why my gut hurts so much (they think the two symptoms may be related) and there is some streaking in the fat that surrounds my colon. I am scheduled for a colonoscopy later next week to see if I have any serious gastrointestinal issues.

I just gave notice today at work, I will be starting a new job, a more interesting job in a great area, with really interesting people in 4 weeks. The insurance isn’t quite as good: there is a bigger copay on drugs, I have to pay more for my wife and kid. But it’s in SoHo.

I don’t know if something is seriously wrong with me, it seems always right around the corner. But when I walk down the street today I keep my eyes straight ahead. There is plenty to see in Manhattan right in front of you.

Clinical Trial for New CVID Drug

There is an ongoing phase II drug trial for people with CVID who have bowel issues. It sounds like it may be promising for the treatment of other autoimmune diseases. Check it out and see if it is right for you. Let’s hope it is effective.

Possible Medicine to Treat Severe Autoimmune Attacks in People with CVID?

I have been wondering for a while whether rituximab, a drug that is approved for the treatment of rheumatoid arthritis would work to suppress other severe forms of autoimmune disease in people with CVID. Rituxumab works by essentially scrubbing the blood clean of malfunctioning B cells that create autoantibodies, the stuff in your blood that attacks your body in an autoimmune response. New, normally functioning B cells are produced by the bone marrow and repopulate the blood, thus reducing autoimmune attacks. It’s kind of like pressing reset on a certain part of your immune system. This treatment has been tried sporadically with very ill patients who experience poor responses to more standard treatments like antihistamines, IVIG and steroids. One study shows that it worked well for a patient with a severe autoimmune response to his blood platelets. Another study found that patients with autoimmune responses to their own red blood cells had good outcomes from rituximab treatment.

A couple of words of caution in interpreting these studies:

1. These are case studies and their findings have not necessarily been corroborated by other broader studies or clinical trials. These findings could be flukes.

2. Rituxumab suppresses the immune system. Obviously, taking it may be risky for people with  already compromised immune systems. Of course, it only suppresses B cells which don’t work very well in people with CVID anyway.

None-the-less, I wonder if this could be a possible future treatment for CVID patients with a variety of stubborn chronic autoimmune issues.

Why Don’t Spleens Actually Have Vents?

It would really be helpful for those with the miserable condition known as splenomegaly, a condition in which one’s spleen dramatically increases in size. I have increasing pressure under my left ribcage, soreness in my sternum and left shoulder and suspect that I may be experiencing its initial symptoms.

What happens?
Basically, your spleen is a fist-sized organ under your left ribcage that processes blood. It removes impurities from your blood and creates white blood cells to help fight infections. When it malfunctions, it can do a couple of things. First, it can cause anemia by destroying too many red blood cells. Second, it can product too many white blood cells. These white infection-fighting cells either accumulate too quickly or don’t die when they are supposed to and keep accumulating in the spleen, thus greatly increasing its size. It can eventually press on neighboring organs, like the stomach and lungs. It can cause malaise, pain, a perpetual lack of hunger and if it really gets bad…it can burst. Bursting is really dangerous because you can develop internal bleeding that can kill you very quickly. If your spleen bursts, call 911 immediately!

Luckily, that rarely happens but you should take it seriously. And as my doctor says, “be aware but don’t worry until I tell you to worry.”

What does it mean?
Well, according to the literature I have read, approximately 30-45% of people with CVID have chronic splenomegaly. It’s fairly common. Most of the time it seems to be relatively benign…if you consider having The Blob living inside your abdomen benign. When it does have an identifiable cause, i.e., is not idiopathic, it is usually caused by an infection, viral, bacterial, fungal, whatever. If you can catch it, it can cause your immune system to freak out. A number of people are looking at various herpes viruses that seem to be strongly correlated with it. It can also be related to a systemic autoimmune response: if your body becomes allergic to itself, your spleen can produce the cells that attack you. Finally, it can mean you have a blood-based cancer, like lymphoma.

What can they do?
You only really have a few options. Generally, your doctor should try to determine if there is an underlying infection. If not, really bad cases may require the removal of the spleen. This is generally a last resort for people with CVID. The spleen is an integral part of the immune system and we are already have part of our immune system missing. Finally, if this condition is related to a blood-based cancer, they may choose to irradiate the spleen to shrink it and kill the cancerous cells.

I have a CT scan scheduled in two weeks. I’ll let you all know the verdict.

Orphan Drug or Ineffective Molecule?

That is the big question. Does anyone know what happened to B Lymphocyte Stimulator (BLyS)? It seemed to be a promising treatment for CVID and other immunodeficiencies but then disappeared after phase 2 trials a couple of years ago. Was it not effective, did it have horrible side effects, was it not profitable or was it simply dropped so that Human Genome Sciences could spend valuable resources elsewhere? It’s frustrating to know that a treatment for my affliction is out there somewhere and I can’t get it.

What is IgA and Why Don’t I Like It?

So, I have mentioned below that my body is intolerant of IgA. IgA is an antibody that protects the mucous membranes in the nose, mouth and digestive tract. Apparently, a small subset of CVID patients have this condition. It is characterized by a complete lack of IgA production by the immune system and concurent production of large amounts of anti-IgA antibodies. Yes, that is right folks, I have been endowed with the ability to create antibodies to my antibodies. The anti-IgA actually destroys any IgA that enters my body. Therefore, when I had my first IVIG infusion, my body attacked the small amount of IgA that was present in the Ig solution (most of it is IgG) and created the unpleasant reaction I recount below. Who knew this could happen? I guess it makes sense since antibodies are proteins and you can theoretically be allergic to any protein.

Fortunately, there are IgA depleted IVIG solutions and I was able to find one that didn’t plunge me into anaphylaxis.