Recent Study Discovered a New Gene Associated with Causing CVID!

Today I received notice of a new article on CVID and the information is pretty exciting! In Utah a mother with two children (all of whom have CVID) enrolled in a genetic study for CVID and the researchers discovered another gene mutation associated with causing CVID. In addition to testing the mother and her two children they also found another person (out of 35 tested) who also had the gene mutation. They don't know whether it was a mutation that all four of these people were born with or whether the gene mutated due to some other cause.

The article, from The Science Codex, titled "Mutation in NFKB2 gene causes hard-to-diagnose immunodeficiency disorder CVID" states: 

"NFKB2 gene impairs a protein from functioning properly, which interferes with the body's ability to make antibodies and fight infection."

The article also stated that there's a new test developed by ARUP Laboratories that involves testing for this gene mutation that will be available in May of 2014. The new test will help doctors diagnose CVID. I hope that this new test will help CVID patients who are borderline in terms of antibody numbers get a more definite diagnosis that will ensure insurance will authorize treatment for them. No more of this "We won't cover because your numbers are borderline and your doctor didn't test your pneumonia titers to see if you built antibodies". Wouldn't that be wonderful? Too many of my friends in my CVID support group have had to wrestle with insurance companies to get treatment because their doctors weren't knowledgeable enough to follow a diagnostic criteria that insurance companies would honor. I'm blessed in that regard, despite the fact that I am not currently getting IVIG treatments.

This is so exciting because it means that there is more research being done to find out the cause of CVID and they are making discoveries that could one day lead to a cure! I expect that somehow I may have interacted with the woman in this study. There are few enough of us in the United States that it's not that unreasonable an assumption. If so, or if you are reading this, thank you for getting involved to help get us some answers! :)

Results of New Research: We May be Able to Enhance the Immune System!

There seems to be a lot of research being done on the immune system these days, and that's good news for all of us! In fact, I just read an article tonight that researchers have discovered that the Killer T-cells of a person's immune system can be enhanced to fight infections. That may not directly help those of us with CVID, since our deficiency is usually in the B-cells, but it's still exciting for two reasons:

1. They are researching the immune system and some of that research will benefit those of us with CVID (Read: We are not forgotten!)
2. They are finding ways to improve the overall immune system

The study built on a theory from the former director of the Walter and Eliza Hall Institute (an Australian medical research facility), Sir Macfarlane Burnet, an Australian Nobel Prize Laureate. Apparently, he came up with the theory 55 years ago. The following quote is an excerpt from the article in The Vaccine News Daily:

"The team discovered the IRF4, an important protein activated in the killer T-cells, could be produced at different levels depending on how well the killer T-cells recognized infected cells. The researchers discovered that enhancing the levels of IRF4 could help to boost killer T-cells effectiveness in fight infections and other diseases." (From article: Enhancing Immune System May be Possible by Emma Rogers)

While it may come across as pandering for me to it here, I find the following handout from the Immune Deficiency Foundation (IDF) to explain the various cells of the immune system in a clear way that's actually kind of fun to read: Our Immune System.

New Resarch Regarding Development of Autoimmunity in Patients with CVID

The results of a CVID study were recently published in the Journal of Clinical Investigation. In this study, Yale researchers Eric Meffre and his colleagues found that CVID patients with a single mutation in the tumor necrosis factor receptor superfamily (TACI) led to development of autoimmune diseases; whereas those with two mutations of TACI did not develop autoimmune diseases.

"When associated with CVID, a single TACI mutation predicts the development of autoantibody-mediated autoimmune disease, whereas patients with two mutated alleles are mostly spared clinical autoimmune conditions, suggesting a complex role for TACI in maintaining B cell tolerance" (From article: CVID-associated TACI mutations affect autoreactive B cell selection and activation, Published September 24, 2013)

A recent article published by Science Codex (Development of Autoimmunity in Patients with Common Variable Immune Deficiency) explained the findings more clearly for those of us without advanced biology degrees: 

"The (research study) authors found that CVID patients with a single altered TACI allele maintained some residual B cell responsiveness that promoted development of autoantibodies, whereas individuals with 2 mutated copies of TACI have complete impairment of B cell responses, which likely prevents autoimmunity."

My question, is it truly better to have total impairment of B cell responses? I grant that being free of autoimmune diseases is a blessing, but what about the little infection-fighting that we have with some B cell responsiveness? I don't understand the biological terminology in the Journal of Clinical Investigation article enough to tell whether there is enough B cell responsiveness left in people with only one TACI mutation to fight infections. If so, which is more beneficial? At the very least this research answers some of our questions about why we can develop autoimmune diseases with broken immune systems. For those of us with CVID, answers are truly a gift. Thank you, Eric Meffre and colleagues for your efforts.

Negative Impacts of Stress on the Immune System

This morning I was reading an article from Science Daily about how a person's current state of mind can affect their genetic makeup, and as I was reading it I came across a few paragraphs on how stress impacts the immune system.

"Previous studies had found that circulating immune cells show a systematic shift in baseline gene-expression profiles during extended periods of stress, threat or uncertainty. Known as conserved transcriptional response to adversity, or CTRA, this shift is characterized by an increased expression of genes involved in inflammation and a decreased expression of genes involved in antiviral responses.This response, Cole noted, likely evolved to help the immune system counter the changing patterns of microbial threat that were ancestrally associated with changing socio-environmental conditions; these threats included bacterial infection from wounds caused by social conflict and an increased risk of viral infection associated with social contact."But in contemporary society and our very different environment, chronic activation by social or symbolic threats can promote inflammation and cause cardiovascular, neurodegenerative and other diseases and can impair resistance to viral infections," said Cole, the senior author of the research."

From article: Be Happy: Your Genes May Thank You for It in Science Daily

Many times I have wondered whether a very stressful period of my life could have a negative impact on my immune system. I don't know as I would go so far as to say that it could cause CVID, but I have been under extreme levels of stress and have seen my body break down under the pressure. Recently I was laid off from my job, my serious relationship ended, and my best friend moved out of state, all within 3 months of each other. I have seen a direct impact on my health with multiple respiratory infections and a bout of shingles. I try to counter the effects of stress by using self-hypnosis recordings and focusing on the positives of my life. Other things like a hot bath with relaxing music, a positive book that encourages me to look at all I have to be grateful for, and pampering myself all seem to help. I believe these things all help to offset the negative impacts of stress.

Duke University Received 1.3 Million for CVID Research

I learned yesterday that Duke University received a donation of 1.3 Million dollars for research into CVID. According to the The Chronicle (Duke University's newspaper), the donation funds will be used to "research the genetic mechanisms that give rise to CVID" Duke Chronicle. This research could help improve diagnostic criteria that will help identify CVID patients earlier in life, and potentially prevent long-term damage from infections.

Duke University has been named one of the United States' top hospitals and is located in Durham, North Carolina.

(Photo from Google Pictures_Duke University)

My November '11 Appointment with the Immunologist

I saw my Immunologist yesterday, and I was able to put my mind at ease over some of my concerns regarding stopping my infusions. I have been worried that I had no antibodies to the kinds of diseases that children get immunized for, and my immunologist showed me my most recent test results (2 months after stopping infusions),  and said that I have antibodies to those diseases. The part that I'm lacking is in defense against pneumonia-causing organisms like mycoplasma and other nasty things like that. He said that it's actually pretty common for CVID patients to have antibodies to most other diseases and just be lacking in defense against pneumonia. That really puts my mind at ease.

The one thing I forgot to ask him about is my hair falling out. I am a woman with long straight hair, and I wash it, condition it, and comb it. Lately it's been falling out by handfuls. I'm getting concerned and don't know whether it's CVID related. However, there are quite a few people in my support group who have the same issue.

I have now been off of my infusions for 6 months and off of Trileptal for 4 months, so yesterday they did some bloodwork to determine whether my antibodies are recovering now that I'm off of the Trileptal. I should know the answer in a few weeks! It would be so amazing and wonderful if I could recover and not have CVID. Of course, I may still be IgA deficient after this, but that would still be better than full-blown CVID!

On the downside, I'm on my 3rd round of antibiotics (in addition to the prophylactic ones) to kick what I believe is pneumonia. Originally I was sick for 4 or 5 days and seemed to recover on my own. I thought it was a good sign. Then about a week later I realized that I had not only a sinus infection but that it was moving into my lungs. I called for antibiotics, and they told me to take triple my normal dosage for 4-5 days then call to let them know how I was doing. I called on the specified day, and since I seemed to be feeling better and hadn't heard from them, I dropped back down to my maintenance dose the next day. That night I went to bed early and woke up about 9:00 PM with significant chest congestion. I made myself some hot lemonade to help loosen my chest up, and went back to bed. When I woke up the next morning I was so sick and so weak that I had difficulty walking just the few feet to my bathroom. I called the Dr back and they said to take double my normal prescription twice daily for 3 weeks (that was a week ago). I've done that, and have felt my strength returning, but I'm still so weak that I need a wheelchair rather than walking any distance. When I saw my Dr yesterday he believed that I could well have had pneumonia, said I was very pale, and put me on a 3-week course of Cipro. He said it's good at fighting all the nasty little beasties that cause pneumonia.

I started the Cipro today, so hopefully I'll feel much better in a few days/weeks.

The Scary thing about Epilepsy Drugs

As I may have mentioned in the past, I have epilepsy in addition to CVID, and was diagnosed with it just a few years before my January 2010 CVID diagnosis. In 2009 I was put on a drug that seemed like a miracle to me (Trileptal...aka Oxcarbazapine), as it controlled my seizures with minimal side effects.

Fast-forward to May 2011, when I found a case study written by Dr. Charlotte Cunningham-Rundles (the leading CVID researcher in the country) linking Trileptal to the cause of CVID in a patient! I was shocked, confused, excited, and even a little bit heart-sick. I spent many days weighing which disease was easier to live with as I knew that my many sensitivities had ruled out most of the seizure drugs that would work on my kind of epilepsy. The thing that made me decide that epilepsy would be the better disease to have to live with was seeing what some of my CVID support group friends suffer with every day, and knowing that I'm not at that point yet but it could be in my future.

The patient in the case study was taking Trileptal to control pain, and once she was taken off of it her body started rebuilding antibodies within 2 months of stopping it, and had fully recovered except for IgA after 8 months. I then realized that the only way to find out whether Trileptal had caused the CVID would be to stop the taking it, but in order to find out whether my body was building its own antibodies would be to stop my IVIG treatments as well. That seemed like a completely impossible option, as I had just started a new job and didn't see any way I could change seizure drugs without going on extended medical leave while my body and brain adapted to new medications. I tried going onto Topamax with the intent of easing off of Trileptal, but my body didn't like that one at all. After a full week of constant intense nausea and not decreasing the Trileptal dose, my neurologist told me to stop the Topamax, and then he began research to find something else that I could take.

Time passed. In August I went to an allergist at Stanford to help me with my allergic reactions that I experience despite testing negative to allergens (because I have very low IgE due to the CVID). That Dr ran a test of my blood sodium level and found that it was dangerously low (121). He told me to get an emergency visit with my neurologist to get off of the Trileptal, as Trileptal is known for pushing blood sodium levels down in some people. Luckily, my neurologist had found a new seizure drug called Vimpat (Lacosamide) that seems to work well for me, is not on the list of seizure drugs that may cause CVID, and has minimal side effects...another miracle drug...I hope it is as good as it seems.

It's Been Awhile...

I haven't added anything here for a long time, and for that I apologize. I guess I've been kind of scared about my treatments and got down in the dumps over it. Things have improved tremendously though, so I think it's about time I posted an update.

I kept having a lot of bad reactions to my treatments and my doctors kept telling me that if I didn't improve, they would have to take me off of all IgG therapy and put me on prophylactic antibiotics. What scared me about that is that I already have significant lung damage from all the infections I've had over the years and prophylactic antibiotics are less effective at treating CVID than IgG therapy. In addition, I tend to develop allergies to antibiotics quickly, and there are already many that I can't take either because they quit working for me, or I suddenly developed an allergy to them. I think we've finally come up with a solution that is working though, and my infusions have been going much better with fewer side effects.

I now take 20 mg of Prednisone the day of my treatment (an hour or so before I start it), and then another 20 mg of Prednisone the day after my treatment. If I take that and make sure to hydrate well, I tend to not have many reactions, and those that I do have are minor. The only exception to that seems to be if I forget to take my second Prednisone, then about 24 hours after the treatment I will start having trouble breathing.

The good news though is that I'm recovering more quickly from my infusions too. It used to be that I would feel exhausted and sick for the whole week between infusions, but now I feel weak the day after my treatment, but by the second day after, I feel pretty good! I've actually started looking forward to my infusions because I know they will help me feel better!

Today I forgot to take my second Prednisone, and so I'm having breathing trouble now. I was trying to figure out what was causing the chest tightness, then suddenly realized I hadn't taken the other pill. I need to make sure I put it in my pill container for the next day.

Ninth Gammagard S/D Infusion

I had my infusion yesterday at my boyfriend's house. I wanted to do it early so that I would be able to have a glass of champagne on New Year's Eve. I found out the rough way that if I have alcohol within a day of my infusion that it will make me feel truly awful due to the dehydration that it causes.

I noticed that I was feeling a bit dizzy and anxious when we were getting ready to do the infusion, so I asked him if he felt comfortable doing the infusion if I were a bit dopey on Benadryl. I had been feeling sick and tired for the previous 2 days, and, as usual, there are too many variables to really know what was going on. I may be fighting off an illness. I noticed that I never had the anxiety issues with the Benadryl in my system and that it would calm me. I only took one so that I would still be able to coach him as needed. He was wonderful, and did all of the needles for me. Some of the needles hurt due to the Gammagard having gotten into them, but it didn't phase me. I took the 2nd Benadryl after the infusion had started and took all the regular premeds at the appropriate times. I had to take my rescue inhaler periodically during the infusion, and more Tylenol (as I had a headache that wouldn't go away, but didn't take more Benadryl. The infusion took about 7.5 hours with me closely monitoring the pump to change the syringes.

Benadryl (AKA Diphenhydramine)

Tylenol

This was the first time I used the 6mm needles in my thighs, and at first I was excited because it seemed to be so much more comfortable than the 9mm needles. I stayed awake throughout the infusion and didn't put any serious pressure on any of the needles, but about halfway through my infusion one of the sites started stinging severely. I asked my boyfriend to look at it and he noticed that the Tegaderm was lifting around the needle, and when I got to where I could sit down and look at it in good light I saw that the site was actually leaking. I tried putting a pressure bandage over the needle to stop the leaking, and it seemed to work at first, but then it started up again. I had to clamp that needle off and finish the infusion in 4 sites.

Today the sites still look white and swollen (which is unusual for my thighs), and I've come to the conclusion that I need to go back to the 9mm needles. I think that the extra stinging is due to the fact that the Gammagard wasn't getting into the fat layer but was going in between layers of my skin. With the 9mm needles I would have leaking after an infusion, but never had leaking during an infusion. I'm glad that Accredo let me try the 6mm needles without taking the 9mm needles off of my order.

I took my second Prednisone this morning and have had some irritability and gloomy thoughts today, but I seem to be breathing well and feeling relatively well. I still don't know whether I'm getting sick or not. I sincerely hope not.

Bad Reaction...but to what?

I did my infusion yesterday and finished about 11:00 PM. Today I felt ok other than exhaustion and a headache...until about 2 hours ago (8:00) PM. Suddenly I started swelling all over my body and having breathing trouble. I'm afraid it's from the treatment, but hoping it was just a food reaction rather than to the treatment. I took 2 Benadryl and my breathing has improved somewhat, but I'm still swollen enough that my fingers feel stiff, and still a bit short of breath. I know I probably should do the epi-pen and 911 thing, but I'm afraid that the epi-pen will trigger seizures. I keep monitoring my breathing with my peak flow meter and even with the feeling of shortness of breath, I'm blowing over 400 on it (which is good). My tongue isn't swollen either.

I didn't eat anything that unusual today, except some home-made oatmeal/coconut/chocolate cookies that my mom put some milk in. I'm allergic to milk, but have never had this kind of reaction to it before. That was the most recent thing that I ate before the reaction, and the reaction came on very suddenly. I also had some spaghetti with fresh basil on it from my mom's plant, and while that's not something I have all the time, it's still frequent enough that I didn't think twice about it. I had that about an hour before I noticed the reaction.

The only other time I've had a reaction like this to something was to shellfish, and it was similar except this time I don't feel like my tongue's swollen. I'm wondering whether there's shellfish in the cat food.

Will post more later...

False Alarm?

Sunday, 11/19/10 2:00 PM

So...I ended up not going to the hospital, but took an additional 2 Benadryl and was finally able to sleep despite the fact that I was really scared. I feel a lot better this morning, and I realized that the Prednisone could have made me puffy instead of it having been an anaphylactic-type reaction. I know, I'm an idiot for not going to the hospital because they could have at least confirmed whether it was anaphylaxis or not, but I was afraid to go because I was scared I'd catch something. Silly huh?

I took my blood pressure when I was going through all of that and it was 140/89 which is very high for me, but it made me more comfortable to sleep because one of the danger signs of anaphylaxis is low blood pressure in addition to the other signs. It made me realize that maybe something else was going on and I calmed down. This morning I asked my mom whether I'd been puffy earlier in the day before I went to get her and she said my face was definitely puffy. That's another reason I think it was the prednisone. Also, I never felt like my throat or my tongue were swollen, and I think the prednisone explains that. 

I feel like a fool for getting so scared and putting my mom through hours of worry, but it was scary and I've had the swelling thing before with my tongue and throat swollen from an allergic reaction. I should have remembered that prednisone makes my face look puffy too though and calmed down when I realized my tongue and throat weren't swollen.

I do have a rash where the Tagaderm patches were, and that's something new. I took picture to show the doctors if they want to see them. 

So confusing...too many variables...

Update...

Monday, 12/20/2010 10:00 AM

I tried to call my doctor but they are out of the office until January...I guess that's the drawback of a teaching hospital. When I couldn't reach anyone there I called Accredo and spoke to both the head nurse and the pharmacist. They were both of the opinion that it probably was the prednisone causing the swelling because I didn't have a swollen throat or tongue. The pharmacist suggested that I take 20 mg the day of my infusion and then try either taking 10 mg the next day and 10 the day after that, or 20 the day of and 20 the next day. She said she's noticed a pattern to me having breathing trouble about 24 hours after the infusion and believes it to be a backlash reaction from the prednisone suppressing everything. She said missing a few weeks of my infusion wouldn't kill me if I'd rather wait to talk to my doctor. I truly think that's what it was though. 

Appointment with Immunologist

Last week I saw Dr. Lewis at Stanford again and he gave me the results of all the tests that they ran last time. IMy IgA was undetectable, IgM was up, and IgG is now over 1500! They said they don't want it to go higher. I responded well to Diptheria, Tetanus, Pertussis, and had normal results for Tuberculosis.

Dr Nelson, the Fellow who works with me most, said that they might run the IgA antibody test on me, at least, I think that's what she said. At first I thought she meant they'd run a test on me to see if I'm allergic to IgG, which she said I could be since I'm having so many reactions to my treatments, so I'm really not certain what test they mean to run.

Dr Lewis recommended various specialists for me who at least know him, and hopefully are familiar with CVID too.

We discussed ways to deal with my treatments, and for now we're going to continue as is with taking my asthma medicine regularly, taking my rescue inhaler 20 minutes before treatment and again 4 hours later, taking 2 prednisone, 2 Tylenol, and 2 Benadryl. I get exhausted just writing about it. ;) He also recommended that I start pushing hydration, even harder than I normally would for an infusion, starting the day before and continuing for 2 days afterward.

If those suggestions don't work, then they will add in using my nebulizer before/during treatment, and that would mean I'd also have to take Clonazepam to stave off seizures. What fun! I'm hoping and praying that it won't come to that. If that doesn't work, then they'll move on to about 20ml treatments / day probably for 5 days of the week. If I still have problems with that, then they will take me off of Ig therapy and put me on prophylactic antibiotics.

So, now that I know all the possibilities, I'm more coming to terms with my fears over the worst case scenario. Dr Lewis thinks that I should adapt to the current treatment and that the realistic worst it will be for me is to add in the nebulizer. That's much more acceptable to me than trying to wing it with antibiotics.

Here are some of the questions I asked while I was there:

Question: Can I eat sushi safely?

Answer: Yes, although eating exclusively saltwater sushi is safest, and salmon is the most dangerous.

Question: What wording should I use on my medic-alert bracelet?

Answer: IgA deficient with CVID

Question: What is IgM?

Answer: IgM is the body's first line of defense against infection, but IgG covers for it.

Question: IgA is for protecting our eyes, mouths, and mucus membranes from bacteria/viruses, do I need to be extra cautious of infection in those places due to not having IgA?

Answer: IgG will protect those places also

Dr Lewis told me that many of his CVID patients get daily migraines, and also migraines that precipitate IVIG. He recommended a drug called Diamox, but when I mentioned it to my neurologist the neurologist said that Diamox is for brain swelling, and gave me Verapamil instead. Apparently Verapamil is good for neurologic migraines.

Gammagard 5 (almost sounds like a band name)

I had my fifth Gammagard infusion yesterday. It went pretty well, and there was no vomiting this time. We got off to a late start with it, and so the infusion didn't start 'til 6:00 PM, then I spaced out on changing the syringe halfway through, and so the infusion didn't end until 2:00 AM. I think I need to set a timer for changing it.

I took my benadryl at the very start of the infusion. That's the best way that I can insure that my brain won't be foggy when I'm setting everything up. I'm a small person, and 50mg of benadryl is mentally overwhelming for me. I have a hard time following a plot on a tv show on 50mg of benadryl, let alone giving myself an infusion!

This time though, my boyfriend put all the needles in me. He's squeamish about needles, but does it to make it easier for me. I very much appreciate it, as it relieves a lot of my stress.

I had some breathing trouble during the infusion, but it was very slight and I took my rescue inhaler at the start and every 4 hours during until I went to bed. I also took another 2 benadryl and 2 tylenol 4 hours into it.

Today I feel weak and tired, but after 4 benadryl yesterday, I'm really not surprised by that. I'm continuing to hydrate well, and don't have much pain other than waking up with a headache that more tylenol seemed to help. I've pretty much spent the day in bed.

I'm continuing to hope that my infusions will get better and easier and I'll start needing less medication during them. 

Thanksgiving and my Fourth Gammagard Infusion

On Thanksgiving Day I had 2 asthma attacks and a migraine. I was doing ok, but the candles at dinner, smoke on people's clothing and perfume all served to aggravate my breathing and I ended up having a very embarrassing (all public attacks embarrass me) asthma attack in front of my boyfriend's family. They were great about it, and helped me get some tea and water (tea helps loosen my chest), and were very considerate and kind about everything. I just hate being the center of attention like that, especially when I don't know people that well. I took 2 Benadryl, had extra caffeine in the hot tea, and took my inhaler probably about 3-4 times.

Then we went to my home for dinner #2 with my mom. I was doing better and pretty much held my breath from the car to the house because of all the chimney smoke in the air (I was wearing a mask too). I sat up in bed to recuperate from the attack until dinner was ready. I felt hungry but exhausted and nauseous. When dinner was ready I was so nauseous I could hardly eat despite feeling hungry, and I had a migraine on top of it. I took some Tylenol for the migraine. On the way back to my boyfriend's house, when he put the car's heater on defrost the smoke sucked into the car, which triggered attack #2. Luckily it wasn't as bad as the first one.

The Infusion

Friday morning I woke up with the headache, but it wasn't as bad as the night before. I got ready to start my infusion and had just put the first needle in when I started vomiting violently and came very close to fainting. I was so sick that I thought I'd have to go to the hospital. My vision became completely obscured by what looked like snowflakes, and I wasn't able to focus for probably close to 5 minutes. My boyfriend got me a Zofran, and totally took care of me; about 10 minutes after that I felt better. I don't know why I threw up, but I do know it wasn't related to my infusion. I had to teach my boyfriend how to do my infusion because I was not functioning very well; he put most of the needles in for me. I had taken a prednisone about 40 minutes to an hour before I vomited, and I was hoping that I'd have enough in my system to keep me from reacting to the infusion. I also took my inhaler, along with the 2 Benadryl and 2 Tylenol as premeds. Once again I put the 60 ml/hr tubing in series with the 120 ml/hr, and the infusion lasted for a total of 6 hours. I had some swelling and pinching at the injection sites, but never enough that I had to turn the pump off. I didn't have any breathing problems either! I took my inhaler again 4 hours into the infusion, and I had a very slight tightness in my chest at the very end and took my inhaler once more. Overall, I felt that the infusion was very successful! :)

The Next Day

Today I woke up feeling very weak and shaky. I had trouble sleeping last night after the 2nd prednisone and ended up taking 2 Benadryl again to help me sleep and prevent reactions during the night. I eventually fell asleep about 4:00 AM and slept fitfully til noon. My chest hurts a lot. It hurts to breathe deeply or laugh or cough, but I'm hoping that's just from the vomiting yesterday, and not my lungs. I'm eating very cautiously and very small meals because I want to avoid a recurrence of yesterday. I'm still in bed because I feel so weak, but I don't have a migraine, and the shortness of breath I've had seems more related to the chest pain rather than asthma.

Visit to my Neurologist

The week  following  the infusion I was able to see my neurologist about the temporary blindness that happened after I vomited. He believes that the blindness was caused by a migraine and put me on a blood pressure medication called Verapamil to help relieve the pressure in my head. He said that there's a migraine specialist who he knows at UCSF who treats neurological migraines (ones with strange things like blindness, numbness, the room spinning, etc) with the short-acting form of it, so I have to take it 3 times a day. The medication seems to be helping because I've been having fewer headaches. 

Doctors and Insurance Companies

Yesterday I was chatting with a friend who has been fighting with her insurance company for a year to try to get coverage for infusions, and she told me that they had finally agreed to cover her for a year!!! I'm so happy for her because she's been so sick for so long, and constantly had trouble finding doctors who would help her. It shocks me that so many members in my favorite support group have had doctors refuse to treat them once they found out that the person had CVID! Makes me think they swore a hypocritical oath rather than the Hippocratic oath! Sometimes these doctors will admit that the case is too complicated for them...but don't they consider referrals at least??? I mean, we CVID patients are desperately seeking relief from pain, gastrointestinal problems, breathing problems, skin problems and doctors just say "You're too complicated, get out of my office!"? What's wrong with this system?

Visit to the Pulmonologist

I went to the pulmonologist today and mentioned that I feel like I'm starting to come down with something. He asked me what my symptoms are, and I told him I feel a bit congested in my chest, I'm spitting up yellow/brownish phlegm in the morning, I have an urge to cough but am not coughing much yet, and I'm exhausted. Based on those symptoms and the fact that I need to avoid getting any more lung damage,  he prescribed a 10-day course of antibiotics for me. Unfortunately, it's one of those antibiotics that requires avoidance of all calcium and magnesium, so I have to quit all vitamins for 10 days because the warning on the label says "Do not take antacids Iron, or Vitamins/Mineral Supplements within 8 hours before and 4 hours after this medicine". I expect I'll be really tired without my vitamins!

Appointment with Primary Immunodeficiency Specialist

Today I had my first appointment with a true specialist in immunology at a local research hospital.

He's a pediatric immunologist, but sees adults once a week. I saw a fellow first who was very nice and also seemed very competent, she asked me a lot of questions about my history, especially regarding infections. Then the doctor came in with another fellow and sat down, talked to me in-depth, and very patiently answered my questions.

The doctor is concerned that the original tests that I had at diagnosis were not sensitive enough to detect how low my IgA actually is. My test results show <25, but that just means that my IgA is lower than the test is capable of showing. Because I have a history of bad reactions to both Carimmune NH IVIG, and have had a few bad reactions to Hizentra SubQ, he suspects that I might have an IgA level below 6. He also said that if that's the case, and I keep having Hizentra or other high-IgA gammaglobulin treatments, my body could make IgA antibodies which would mean that I could eventually have very serious reactions like anaphylaxis to the treatments.

He plans to run more in-depth and sensitive tests on me to check out my IgA level, see what antibodies I have for various diseases, test for RA and Lupus, and see what I have in terms of Candida. There was probably more, but I'm having trouble remembering.

I am very excited about being able to see this doctor. I believe he will help me a lot! He recommended that for my next Hizentra treatment I take 2 Benadryl, and 1 Tylenol and see if I do better.

I will keep the Fioricet as an option later if I get a migraine, but because it has Tylenol in it, I would have to wait hours after taking the Tylenol before doing that.

He kept reiterating that CVID is actually a "blanket name" for many different diseases, and they will test me to find out more about what I actually have. I'm so excited! :D

My Questions for the Doctor, and his answers:
(Note, I may have not fully understood his responses, or not written fast enough and can't remember exactly what he said (I took notes as he answered my questions). This is my best summary of what he said to me today. I hope it helps, but check out what I have here with your own doctor)

Questions for PI Specialist

Question: Should I take steroids (or any drug that lowers the immune system) ever? (eg: nasal sprays, inhalers, eczema creams, prednisone, etc)

Answer: Yes, as needed for asthma, allergies, autoimmune disorders, etc.     Avoid over-use of oral steroids due to them affecting the blood

 Question: Should we get treatments while sick?

• What about with an infection or while on antibiotics?

Answer: Yes, unless you have a high fever which might mask a reaction to the medication

Question: Should I stay away from children (some doctors have said that I should)?

Answer: No, but use caution. If they are sick, wear a mask, keep distance, and wash hands frequently

Question: What is your "goal" IgG level for me?

Answer: Based on individual, but around 800 for me. He also said that some people are fine at 600, but he doesn't think that I'm one who would be.

Question: Will you test me for IgA antibodies?

Answer: Possibly, if I have very low IgA (under 6.0)

Question: If I have IgA antibodies is it still safe for me to have Hizentra?

Answer: No because I will make antibodies to the IgA, and will then be more likely to have a very serious reaction to my treatments.

Question: Is it safe for me to receive a blood transfusion?

Answer: It is unless I have very low (under 6.0) IgA, in that case a blood transfusion could be very dangerous

Question: Can/will you do genetic testing? I think there’s a family history...

Answer: In my case, yes because I’ve been sick for so much of my life. A very small percentage of people have the defective TACI gene, and the people with the other associated defective genes are even more rare. He will test me for the TACI defect.

Question: Is it possible to have CVID your whole life, but have your immune system crash at some point where your numbers fall, or will they always be low?

Answer: Yes, but because I’ve been sick for so long that’s probably not the case.

Question: Do you treat the patient or the IgG levels?

Answer: He cares about the patient’s well-being, and some patients are good at lower levels and there are treatments other than IgG replacement that work for them. He does not think that is the case with me.

Question: Are you currently researching CVID?

Answer: Yes, he has a budget for researching CVID and is accepting patients for the research

Question: How will you help me regain my quality of life?

Answer: By finding a more appropriate treatment for me.

Question: Can CVID patients make antibodies?

Answer: Yes, especially for things like Lupus and RA

Question: Can CVID patients  test positive to things like Lupus, RA, etc?

Answer: Yes (see above)

Question: Should CVID Patients wear a Medic Alert Bracelet?

Answer: Yes, especially if they have very low IgA, then they should specify CVID – No IgA (or something like that)

Question: Should I have antibiotics for dental appointments? (Fillings, etc)

Answer: No, the primary reason for that is to avoid heart valve infections.

Question: Can we eat honey safely? I read that it’s an issue w/ babies because of them not having enough good bacteria in their intestinal tract, but ours can be wiped out by antibiotics and other drugs...

Answer: Yes

Question: Should we get vaccinations?
Answer: There's not much point because of the vaccinations being covered by IVIG/SubQ--except the most recent flu vaccination. You especially need it if you're on Hizentra.

Question: Is a problem with the innate immune system (limited/no swelling, low body temp, diminished pain response) related to CVID?
Answer: Yes, the innate immune system is (can be? don't remember which he said) linked to CVID, but they don't know how yet. I also don't remember whether he said for all CVID patients, or just some. I do remember him saying that they see things like low body temp, and not swelling in some CVID patients. He also said that some patients don't heal at the normal rate.

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If any doctors who saw me today disagree with the information I provided here, please either send me an e-mail or write a comment below. I will correct the information right away. Thank you! :)

The First Day After My First SubQ Treatment

I woke up with a splitting headache (migraine really) that seemed to reach from the base of my skull all the way up to my forehead. At first I didn't even want to try moving because I was afraid that the room would start spinning. I rolled over in bed and tried to go back to sleep but when I closed my eyes I would see what appeared be dim red lights throbbing, so I knew if I kept my eyes closed that would make me sick. I let myself wake up slowly, and after a few minutes had to get up to go to the bathroom. Luckily, the room didn't spin too much, but I kept hearing a high-pitched ringing that made my head hurt more.

I got back in bed and mom made me an iced tea to get some caffeine into my system, and also brought me some food so I could take some painkillers. I took a fioricet (prescription medication for migraines) and also took a medication for nausea.

I thought the knots had disappeared last night, but they're still there if a little smaller, and are still sore to the touch.


Hours After Waking...
I still have the headache, although it is less intense than when I first woke up, and the knots are still there and sore, but most of them are about half the size they were yesterday. I am also fatigued. Despite these side effects, It is not as bad as the first however-many IVIG infusions I'd had before realizing what a huge factor infusion speed is in how I feel afterwards. If I can get the side effects under control for this, I think it could really work for me. I still think it might be a good fit for me. :D

Eighth IVIG Treatment

IVIG #8

Saturday, July 17, 2010
Today when I walked into the infusion center at 9:30, Jane (my nurse from infusion 7) introduced me to Christina, who would be my nurse today. She assured me that she'd told Christina to keep the speed at 50 cc/hr or slower. I was happy to hear that because I'd prepared myself to argue to keep it below 75. Christina was sweet, and when she started the IV it hurt less than usual. No blown veins, and no other problems. :)

I started out watching a movie, but I got too sleepy as the benadryl kicked in and took a nap. Mom woke me up at 1:00 because she got worried that it was going so slowly that the nurses were going to give me attitude near closing time, so she asked the nurse about increasing the speed to 75 to make sure that I was done in time. That was when I learned the conversion to calculate the amount of time it takes to do an infusion.

Anyway, the nurse raised the rate to 75, and we finished at 4:55. My next infusion will be August 6th at 8:00 AM. That way if I need to keep it at 50 all day, I can! :)

The 75 rate seemed to work for me. I wasn't dopey after my nap. I finished my movie and spent some time on the computer.

After my infusion I had my mom take me to visit my brother, and we hung out with him, his girlfriend, and a few of their friends for about 3 hours. I had a really great time, and still felt good when we left. I did however, need to leave because they were smoking a lot, and it was really starting to aggravate my lungs. We then came home. My one big concession to resting today has been working on my laptop in bed rather than sitting at my desk. Anyway, it's been a great day overall, and I think I'm ready to sleep. :)

Update

Monday, July 19, 2010 

I had my infusion on Friday, and yesterday (Sunday) I went out with my boyfriend and his son to a park for a play date with other children. Being at the park was fine, except I was a little paranoid about playground germs. I tended to pace a lot because everything seemed sticky and dirty and I didn't want to touch anything. As a result, I probably expended more energy walking around there than I should have and thoroughly exhausted myself. I'd thought that it would be no big deal to go on such a simple outing since I'd had a day to rest, and the infusion had gone smoothly, but I really over-estimated my abilities. Due to the circumstances I was stuck with walking around and sitting when I had to until my boyfriend was able to take me home a few hours later. By that point I was so exhausted that I just wanted to curl up in a ball and cry myself to sleep. I just wanted to do something normal with people that I care about, and that was too much. I know I wasn't fun to be around either.

Another infection and my doctor visit today
Friday, July 30, 2010

I have been so exhausted lately, both emotionally and physically, and for at least the last 3 weeks. I went to my doctor today because I have a sore in my mouth that I knew last night was infected (I still have my wisdom teeth and I'd bitten the inside of my cheek with it), and my sinuses have been stinging for days along with headaches. Anyway, I have the beginnings of a bladder infection, sinus infection, and possibly the beginning of pleurisy. Because I rinsed my mouth with hydrogen peroxide last night and this morning, she said that the sore is not infected, so I'm just going to keep using the hydrogen peroxide on that. She gave me a prescription of Levaquin for the sinus/bladder infection, and I hope it will take care of pleurisy too if that's really what's happening.

We talked about whether it would be wise to have my wisdom teeth removed (no pun intended) because I bite myself a lot, and she said that it's really up to me, but I should have it done while I'm on antibiotics if I want them removed. I'd do it during this round of antibiotics, but I also need to do it soon after an IVIG treatment. I might put it off another 6-mos or year, I mean, I've been putting up with this since I was 17 or so, what's another year?

We also discussed a referral to see Dr. David B. Lewis at Stanford, and it turns out that she knows him! She said she was happy to refer me to him and that I should have someone really knowledgeable treat me, and she even told me that if I want to transfer my care to him that I shouldn't worry about hurting her feelings. I thought that was really sweet, because I was worried about that even for asking for a referral. However, I think that seeing him as my regular CVID doctor would probably be cost-prohibitive especially because he's out of network. I expect that I will keep him as an annual visit kind of doctor or every 6 months. Still, it will be awesome to see someone who's focus of study is primary immune diseases! :)

First Day After Completion of First IVIG Treatment

Last night after the treatment I had a lot of trembling, shortness of breath, lower back pain and headache. I took medications to deal with those symptoms and finally felt well enough to lie down (can't lie down when I can't breathe). This morning I woke up and felt achy all over. I just wanted to cry from it. I've felt weak and wiped out all day, and have probably spent too much time sitting up at my computer. Time to rest.

My doctor called and said now that I've started treatments I can stop taking the prophylactic antibiotics and it's ok to even be around sick people. I think I might wait awhile to spend much time around sick people, but it's nice to know that I don't have to be cooped up and wear masks everywhere I go now! :) She also said to just continue treating the symptoms from the treatment and to not worry about them

Now I'll rest... ;)