#primaryimmunodeficiency

F is For Foundation

While I’m floundering about being fatigued, i’m also working part time for the Immune Deficiencies Foundation Australia. If anyone knows what its like to be fatigued, its our members. Our members have Primary Immune Deficiencies. Their immune systems are buggered from birth and they face life fighting constant infections. My sister has one. I have CFS/ME – I am finding the more people I meet with…

It’s World PI Week and I’ve got PI! Private Investigator? Nope! Primary Immunodeficiency. Still not getting it? Well, there are different types of immunodeficiencies, but I have Common Variable Immunodeficiency / Hypogammaglobulinemia. This means I don’t have enough Immunoglobulins in my blood to fight off germs or form immunity to illness. The paranoia everyone has been experiencing with COVID  is the everyday reality of Common Variable Immunodeficiency patients. We’re also very susceptible to cancer.

Everyone who has CVID is born with it, although many of us do not get severe until later in life. My disease got very bad when I was around 30 and getting constant infections. Other related autoimmune diseases started showing up at about the same time. I knew something was terribly wrong.

For five years I was a hopeless wanderer, going from doctor to doctor pleading for help. Their reactions varied; some said there was no underlying disease causing my body to implode. Yeah. Okay. Most, on the other hand, wanted to help but didn’t know how because they’d never seen a case like me. We’re few and far between.

The day I was diagnosed was one of the best days of my life. Sounds crazy, but it’s true. Although there’s no cure, the disease does have a treatment. People sell their plasma, and immunoglobulins are extracted from that plasma. So I get some immunoglobulins from other people (indirectly) every week. I have my own infusion pump and have been trained to do infusions subcutaneously at home. That way I don’t have to go and wait at a hospital, exposing myself even further to germs.

I have a lot to be grateful for: excellent specialists, my Freedom60 pump, and good insurance. Many don’t have it as good as I do, so I don’t dare complain. Why am I telling you all this? Well, now you know my story and maybe it will save someone you know from being a hopeless wanderer. Maybe you sell your plasma and I want to say THANK YOU for allowing me to live something akin to a normal life.

From infancy, Louis struggled with infections. From six months on he was sick all the time. His older brother was also getting sick often. Louis was about 1 year old when we had his older brother tested for allergy/immunity to see if that was the root cause of his illnesses. Allergies were not the cause, but it turned out that he had very little to no pneumococcal antibodies. The immunologist recommended a vaccine challenge, so we did it. He produced antibodies and with that, he stopped getting sick so frequently.

Fast forward about 2 years to Louis who was not quite 3 years old. We were one ear infection away from needing tubes when he was tested just as his brother was. We thought it would be the same story, he would make the antibodies and then the frequency of illnesses would decrease. He did not make antibodies with his vaccine challenge and was diagnosed with Specific Antibody Deficiency at the time. He did eventually need to get tubes placed, but that only helped with ear infections. He kept getting other infections, fortunately not too severe, but consistently needed to be put on antibiotics.

His illnesses were managed for about two years and then he became allergic to Augmentin. He was on and off antibiotics at least 6-7 times in a four-month period just as he was turning 5. His stomach was a mess, and he was missing out on so many activities and pre-k because he was sick so often.

We finally decided that we needed to start treatment. We chose to do subcutaneous infusions for him because his levels would stay more stable through the month and there would be fewer side effects. He started just after he turned 5 years old, and we have not looked back since. When he was around 7 years old, he was diagnosed with CVID (Common Variable Immune Deficiency).

He is now 10 years old and is in the healthiest stretch of his life these past two years during a global pandemic. He truly amazes us every day. He does not let anything stop him from doing the things that he loves to do. He is a very active and athletic boy who is growing like crazy. He loves all sports from playing to statistics, but his true love is lacrosse. He plays very competitively and thanks to his treatments he is healthy enough to do it. He is either at practices, training or out playing with his brother almost every day. He has recently been accepted to a National Team and we are beyond proud. His treatments were a game-changer for him, no pun intended! We are so thankful for our team of doctors and nurses. 

I was diagnosed November 1, 2017 by my son's asthma doctor, who also specializes in allergies and immunology. I had quite literally drug myself out of bed that afternoon to take my son to his appointment. It wasn't until I mentioned something about myself (I don't remember exactly what) in an attempt to help the doctor treat my son, that the doctor froze, turned and looked directly into my eyes and started firing questions one after another at me.

Then, an army of nurses entered the room at his beckoning and began drawing blood, taking vitals and writing furiously fast. Soon, the doctor began telling me what he thought the blood test would prove I had - a Primary Immunodeficiency called Common Variable Immunodeficiency (CVID). I began IVIG immediately and unfortunately suffered from numerous side effects.

After three years, I was stable enough to try SCIg. Of course, it was intimidating at first, but I immediately knew it would be a better treatment option for me with less side effects and the freedom to receive my medicine in smaller doses each week at home. I even crafted a zebra-themed rolling cart that houses all my SCIg supplies, including my Koru Freedom Pump! One tip: I use a lidocaine patch to numb my infusion area before inserting the needles. Lidocaine cream also works well!

- Susan D.

My story began just before my 30th when I was planning my big birthday party. I was experiencing strange bloating symptoms where my stomach would go from flat and toned to large and distended for no reason at all. It wasn't triggered by food or anything, just spontaneous bloating. I generally stay fit and lean, so looking like I was 6 months pregnant was an issue for me, especially because my clothes were no longer fitting. It took me many visits to many doctors for them to tell me "it's just hormonal" and "it's no big deal", but I KNEW something was wrong. I know they thought I was just some crazy person coming to their office, but I had to find the answers to my issues.

After visiting primary care doctors and gynecologists who decided they couldn't find anything wrong, I went to a  gastroenterologist. Upon seeing him, I broke down in tears letting him know that I wasn't crazy, that I have a great and fulfilling life, that I am not here for attention, but HE NEEDED to take me seriously. After months of tests and consulting with him about my own research and tests I wanted him to perform, we finally did an endoscopy and colonoscopy. 

The first thing this doctor said to me was, "You are NOT crazy" since my results showed that my intestines expressed nodular lymphoid hyperplasia (NLH) which simply means they are lined with lumps which prohibits proper absorption of fats and nutrients as well. Though the NLH was seen, no one knew the reason for its existence. It took one of his colleagues to remember seeing this is in a medical book in medical school for him to remember it was linked to a type of blood deficiency.

From there I was sent to get my immunoglobulin levels checked (and a lot of other blood tests) and that is when it was noticed that my IgG and IgM levels presented just outside of the normal range, but my IgA was non-detectable. I was then sent to one of the few specialists in the United States to Mt. Sinai hospital in NY for diagnosis of my condition. She diagnosed me in 2010 with a "Selective IgA Deficiency" and for the next 10 years I managed my gastrointestinal issues by eating clean and removing processed foods. She mentioned that my condition could progress to CVID if my other immunoglobulin levels continue to decline and that I'd have to monitor them over the coming years.

In late 2019, I started to experience spontaneous weight gain in the abdominal area, though I was working out 5 days per week. I was gaining weight so fast that it was uncomfortable to eat or sit up in a chair and breathe. Additionally, I started having strange skin infections on my face and chest. Physically, I felt extremely fatigued and had hardly any energy past 12 noon every day. As someone who works full-time and lives a pretty active life, it was torture. I was too tired to do my normal tasks, I felt awful, and I looked terrible.

I decided to reach out to my gastroenterologist because it had been years since I saw him and I wanted to let him know of the newest issues. My food was no longer digesting, so days of food would sit without leaving my body along with the weight gain and fatigue. He repeated the immunoglobulin tests and repeated the endoscopy and colonoscopy. When my tests came back, the NLH still presented, but all my immunoglobulin levels were drastically low. In addition to treating the gastrointestinal issues, he advised me to find an immunologist who could focus on my condition and decide on my next course of action.

There are very few physicians who are familiar with immunoglobulin issues or physicians who are willing to take on patients with those issues, however, I was lucky enough to find one who was motivated to do extensive research and work with me on finding out what to do. I shared with her my medical files from all the previous years and equipped her with tests and lab results from all my physicians to get her started.

After months of seeing her and doing various tests, she confirmed my diagnosis of CVID and recommended I started immunoglobulin therapy. I went on Instagram and started talking to a few patients who have been using immunoglobulin therapy for CVID and knew what questions to ask her about treatment and the experience overall. Though she seemed sad to break the news, I was ecstatic to know there were options to explore. She set me up with the medication she felt was best for me and the nurses started training me at home in August 2021.

“It has been 7 months since my first infusion and I couldn't be happier with the progress of my treatment and the ease of the pump to do my infusions.”

I quickly learned how to inject my needles and get my infusion going by myself. After the first visit, I was able to do all the steps myself with the nurse on standby for assistance if needed. The first month or so was a bit rough since the infusions seemed to wipe out my energy completely, so when I infused on Thursday, I was in bed the entire weekend in recovery. But after that, I started to feel like Superwoman after my injections. My energy was back and I felt like a brand new me! It has been 7 months since my first infusion and I couldn't be happier with the progress of my treatment and the ease of the pump to do my infusions. Though I still have gastrointestinal issues, I do have more than enough energy to work and workout at the pace that I am used to. I feel as though my quality of life has been restored and I look forward to better days ahead!

by Susan Alynne Day

A diagnosis of Common Variable Immune Deficiency (CVID) can take down a once hopeful mindset in one fell swoop. However, you can use this easy Maybe Technique to cultivate hope once again.

Recently, a CVID Zebra I mentor was sharing with me that she was having some anxious feelings about going to a social event. She used to attend this event annually before her diagnosis (and COVID) and she knew most of the people who would be in attendance. Before the event, she was noticing self-critical thoughts such as “I am not very interesting anymore…they might not like me anymore…and what if they act awkward around me now that I have CVID?”

Now, what I know to be true about this Zebra is that she is super interesting and everyone seems to like her. While some of her friends she hasn’t seen in a while may act a little awkward at first, my bet was that she could put them at ease with her humorous personality. I encouraged her to try something new before the event and it really helped her re-frame her thinking – she said to herself “maybe I am interesting….maybe they will like me…maybe they will feel awkward at first but I can help them feel at ease.” She noticed the anxious feelings lessen and she enjoyed the event more than she thought she would.

There is Power in the Word Maybe

Try adding the word “maybe” to your thoughts this week:

I’m not going to do very well because I’m not at my best – maybe I will.

I’m not strong enough to do SCIG every week for the rest of my life – maybe I am.

This IVIG infusion is going to be miserable – maybe it won’t be.

I have no value to add now that I have CVID – maybe I do.

That was a horrible decision to attend that event – maybe it wasn’t.

I can’t figure out my purpose now that I have CVID – maybe I can.

I’m not a good friend because I’m always ill – maybe I am.

I’m going to fail because I can’t perform like I used to before my diagnosis – maybe I won’t.

I’m not the right size anymore because I’ve lost/gained weight since my diagnosis – maybe I am.

It is too late for me to succeed in my life – maybe it isn’t.

I can barely cope, how can I help anyone else – maybe I can.

My dreams aren’t going to happen now – maybe they will.

I won’t be chosen for that job I want now that I have CVID – maybe I will.

I am afraid I get even more sick – maybe my treatment(s) will make me feel better than I ever have before.

IVIG or SCIG will hurt – maybe it won’t hurt that much and I’ll learn methods to make it hurt less.

I can’t – maybe I can.

The Science Behind Maybe

The neuroscience behind this tool is that we feel a dose of hope in our brain when we use the word “maybe.” It brings a sense of possibility and potential. Hope has been widely researched as a feeling that results in a release of dopamine which leads to healing, optimism, and happiness in our psyches.

“Hope is the belief that the future will be better than the present, along with the belief that you have the power to make it so” - Dr. Shane Lopez, senior scientist at Gallup

Dr. Lopez is uncovering amazing new research showing that not only is hope good for your wellbeing, but it’s a measurable quality that can be increased with practice. His new book, Making Hope Happen, discusses the science behind hope and describes practical ways to improve your wellbeing by nurturing a positive, active approach to live. Click here to watch an interview with Dr. Lopez about his new research on hope. Practice challenging yourself to flip your thoughts into a “maybe….” statement of the opposite sentiment. Challenge your brain when it tries to tell you something negative. Instead, use Maybe to change your mindset and cope with CVID.

Hope matters. Hope is a choice. Hope can be learned. Hope is contagious. Here’s to Maybe…