#wpiw

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…

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!