A Report on Kathi’s Health and Her Visit to the NIH

At the beginning of May, the National Institute of Health (NIH), a government medical research facility, finally brought Kathi to Bethesda, Maryland to participate in an ongoing study of Common Variable Immune Deficiency (CVID). We have been waiting for this for over a year, and it was good to finally have it take place.

What is CVID?

CVID means that her body does not produce the immunoglobulins that coordinate her body's ability to fight off infection. COMMON means that this condition is the most common of the immunodeficiency disorders (1 in 25,000-50,000). VARIABLE means that it manifests itself in a wide variety of ways that can be different for each person. Pneumonia, sinus infections, ear infections, and gastrointestinal infections are some of the many manifestations. This variety of presentations often leads to delayed diagnosis. IMMUNE DEFICIENCY means that the body cannot fight bacterial and viral infections like most people.

How does it affect Kathi?

Kathi’s manifestations are mainly twofold—repeated sinus infections, and gastrointestinal enteropathy. The sinus infections are inconvenient, uncomfortable, and fatiguing, and one may have led to an ear infection that made her deaf in her right ear a couple of years ago. However, her intestinal problems are the most acutely dangerous. They cause her either to not be able to eat or to not be able to absorb nutrition when she does eat. When her intestinal issues are acting up, she tends to lose weight quickly and dangerously and lose nutrients that are responsible for the proper functioning of her body—potassium, iron, vitamin B, etc. This condition has led to several scary emergency room visits.

At the NIH, Kathi was poked and prodded for two days by a wide variety of specialists who deal day in-and-out with CVID patients. The NIH is one of the few places in the nation where experts on her condition are gathered together in one place. At several points we sat in rooms with up to five doctors and several nurses for hours on end while they devoted every ounce of their attention and expertise to Kathi. She has needed that sort of attention for a long time now.

We learned several different things, and hope to learn much more in the months ahead. Here were some specific questions that we asked.

Q: Does Kathi have Celiac Disease and/or gluten intolerance or sensitivity?

A: For those who have CVID, Celiac Disease is a common misdiagnosis on the way toward getting a correct diagnosis. This is because Villous Atrophy is common in both conditions. The villae of the intestinal lining are like microscopic fingers which provide surface area that pulls nutrients from food as it passes through the intestines. In both Celiac and CVID, the villae can become blunted and the intestinal lining can become inflamed, preventing proper nutritional absorption and harsh intestinal discomfort. When a gluten free diet fails to reverse the villous blunting and provide relief, doctors often search for other conditions. CVID was confirmed in Kathi many months ago by measuring her immunoglobulin (Ig) levels. All of her Ig’s were very low, consistent with CVID.

Unfortunately, the most common tests available to doctors for confirming or ruling out Celiac as the cause of villous blunting require the presence of IgA, an immunoglobulin that Kathi lacks due to her CVID. Since CVID patients are approximately 10 times more likely to have Celiac Disease than the average person, no doctor to date has been able to confirm or deny that Kathi has Celiac disease. Likewise, no doctor has been willing to instruct Kathi to go off her gluten free diet, in spite of the fact that it does not appear to be improving her condition. Our (mine and Kathi’s) working theory is that she does not have Celiac, and the diet is unnecessary.

But at the NIH, they have tests available to them that are not commonly used by the average doctor, such as genetic testing. The NIH has taken blood to perform genetic tests that will place her into one category or another—1) genetically incapable of having Celiac or 2) genetically capable of having Celiac. To be in the latter category does not mean that she has it, just that she is capable of having it. The tests have not come back yet, but we have high hopes that she will be in the former category and I can finally buy her a Krispy Kreme donut.

Q: What is the mechanism that connects CVID and her intestines?

A: The doctors provided two answers, both of which can be and are probably true at the same time.

1) Her compromised immune system makes her susceptible to intestinal viruses, bacterial overgrowth and even microscopic parasites such as giardia. Like anyone with an intestinal infection, this can cause diarrhea, vomiting, dehydration, malabsorption, and the inability to eat properly. Unlike others, Kathi’s body cannot help fight off the infection, so the condition continues until it is fought off by extended antibiotic regimens that last longer than what is required by those with uncompromised immune systems.

2) The second answer is more complicated and is probably the more serious underlying problem that Kathi faces (this implies that the #1 above is simply a condition that complicates this more significant underlying problem). The body’s immune system requires properly functioning B cells and T cells, which are types of white blood cells which work together to protect the body from infection. The theory is that Kathi’s B cells do not work right, which is why her body does not produce immunoglobulins (IgA, IgM, IgG). This causes her T cells to overcompensate by working overtime to produce cytokines. Cytokines in turn overproduce interferons. These interferons are by nature inflammatory and somehow or another end up focusing their attention on the small intestine—producing gastrointestinal enteropathy. This inflammation of the small intestine is manifested as villous blunting, which presents identically to Celiac disease, although it has a different pathogenesis.

The doctors told her that this inflammation of her small intestines does not tend to resolve on its own in patients with CVID. In fact, without treatment it continues to get worse and can eventually be fatal. However with proper anti-inflammatory treatment, this inflammation can be reduced and even reversed, allowing for a relatively normal life inconvenienced by episodes or cycles of intestinal issues. It appears though that the underlying condition that causes the inflammation is not curable at this point. She will need to remain on some sort of anti-inflammatory treatment indefinitely.

Q: What is Kathi’s current and future course of treatment?

Every three weeks, Kathi has an immunoglobulin infusion (IVIG). You can think of this as a transplant of immunoglobulins extracted from several thousand different blood donors in each infusion. This builds up her infection fighting abilities for up to three weeks at a time, reducing the number of sinus and intestinal infections that she is susceptible to. This course of treatment will be maintained for the foreseeable future. IVIG is very expensive, costing several thousand dollars for each infusion. Thankfully insurance pays for a lot of this, but the remainder mounts up quickly.

That takes care of the infections. What about the more urgent intestinal inflammation? After trying a very expensive steroid (entocort) for several months that did nothing for her, her doctor put her on prednisone (thankfully a very inexpensive drug). Prednisone is a miracle drug for her condition. It has reduced most of the inflammation, so that Kathi has been feeling better for several months now. She can eat, has gained back important weight, has much more energy than before, and is generally much happier (and her happiness is so beautiful to me!). She has stepped down to a minimal level of prednisone daily. When she feels inflammation coming on, she steps up the dosage for a few days until it subsides, and then steps back down to her usual low dose.

Her NIH doctors have instructed her to remain on the prednisone for the time being because it appears to be working very well. But they would like to eventually get her on something else for two reasons: 1) Prednisone has other cumulative effects on the body that are not healthy, and 2) Prednisone is an immunosuppressant that can reduce the strength of her already compromised immune system. For the time being however, she has been instructed to stay on Prednisone because it appears to be working so well for her. They will explore other treatment options in the future.

What is ahead for Kathi?

Within the next few months, the NIH doctors will have her back for an extended hospital stay at the NIH during which time they will perform more tests. The tests that they perform will contribute to research that will expand medical science’s understanding of CVID. The results will also be used to formulate a particular path of long-term treatment for Kathi.

Before that though, we are going to the beach. Our first vacation in a long time in which Kathi has felt good.

Disclaimer:  I am not a doctor or a scientist so I cannot vouch for the complete accuracy of my word usage or explanations.  I am merely trying to summarize my layman's understanding of things.  No doubt, professionals could provide corrections.  While this might be useful information for others with similar conditions, please always consult your physicians before treating my explanation as anything more than a layman's imprecise summary.

Another Important bit of information:  CVID is not a communicable disease, so she did not contract it from anyone, and there is no danger of her passing it on to anyone else.