My name is Whitney, and I’m rare. Usually, I’m a pretty basic – I love diet Dr. Pepper, trashy reality tv, and anything pumpkin flavored. I pretty much described your average white girl. So… how am I rare?
After years of searching for answers, I have been diagnosed with a rare blood disease called Immunoglobulin G4 Related Disease (IgG4-RD). Since being diagnosed with IgG4-RD, it has been very difficult to find information on this disease that doesn’t require an MD to understand. In honor of Rare Disease Day, I thought I would share my story and use this blog as a way to share updates with family and friends as well as share information about IgG4-RD for anyone else who is searching for answers. Hopefully this will provide clarity and hope.
It all started in 2016, when I developed a very intense cough. Sometimes I couldn’t walk more than a few steps without being out of breath and needing to rest. I saw a few pulmonologists and they all just said I had asthma. I never had asthma as a kid, but living in the desert, I just assumed that maybe breathing in too much dust caused adult onset asthma. One of the awesome things about having asthma is it comes with a pretty hip fashion accessory… an inhaler! Nothing says “I’m a nerd” like whipping out your inhaler in public. But I had to keep it with me at all times because unfortunately, breathing is more important than looking cool.
In 2017, I noticed a lump growing under my jaw. After some research, I realized it was a lymph node. Lymph nodes are usually the size and shape of a kidney bean and their main function is to filter out the foreign/toxic particles from your blood. When you have an infection, they become enlarged. If an infection caused the lymph node to swell, antibiotics will get rid of the infection and the lymph node will return to its normal kidney bean size. If the lymph node is swelling due to cancer or other blood diseases, antibiotics will not decrease the size of the lymph node. After taking antibiotics and noticing my lymph node continued to grow, I thought maybe it was just from stress. I had a pretty stressful job at the time, maybe that was my body’s way of saying “slow down”.
At the end of 2017, I accepted a new job that would provide me with a more balanced lifestyle. I packed my bags and moved to Houston, TX. After settling down and finding my routine, I noticed that my stress level was lower, but the lymph node in my neck was larger. Once my health insurance kicked in, I decided I needed to see a doctor.
In April 2018, I went to Kelsey-Seybold clinic in Houston, TX because they took my insurance, had good ratings, and were located around the corner from my apartment. After showing my new general practitioner my lymph node, she ordered an ultrasound so they could determine what was going on. After the ultrasound was performed, they decided they needed a better look with a CT scan, and I was referred to an ENT.
The ENT performed a laryngoscopy, which is where they take a thin tube with a camera on the end and thread it up your nose and down to your vocal chords (larynx). The doctor said my lymph node was probably enlarged because of minor post-nasal drip and suggested I use a nasal spray. Just to be on the safe side though, she ordered a fine-needle biopsy on the lymph node to make sure it wasn’t lymphoma.
When you hear the doctor say “lymphoma”, it starts to freak you out. Consulting Dr. Google does not ease the fear, I promise! But the ENT seemed pretty sure this was just a result of allergies, so I wasn’t too worried. When I told my parents everything that was going on, they were extremely supportive, but also understandably worried. My mom flew out to Houston to spend some time with me and to be my support as I went to doctors’ appointments.
The fine-needle biopsy was another super fun experience. A fine-needle biopsy is where they use an ultrasound machine to guide a needle to the site where they need to collect tissue samples. There is no incision involved, but about 30% of the time the results are inconclusive due to the small tissue sample size.
Ten days later, I received a call from the office of my ENT saying the results came back inconclusive. This was frustrating for a few reasons: 1. The girl who called was not a medical professional and couldn’t answer my questions. 2. The biopsy provided zero answers and several more questions.
A few days after that, I received a call from the pulmonology department saying that in my head/neck CT, the radiologist noticed I had a few nodules in my lungs and sent the scans to their office. They asked that I get a chest CT and schedule an appointment with a pulmonologist. Maybe the nodules in my lungs were causing this chronic cough! Maybe I was finally going to get some answers and treatment to get rid of the cough!
At this point, it’s the month of May and I got the chest CT and saw the pulmonologist. He said I had several ground glass nodules in my lungs, but these usually aren’t cancerous and since I was young and have never smoked, he wasn’t concerned with them. What he was concerned about was the enlarged hilar lymph nodes (lymph nodes located where the main bronchus meets the lung lobe). With my enlarged lymph node in my neck AND lungs, something wasn’t right. We decided to wait 6 months and then get another CT scan to see if my lymph nodes decrease.
I had zero intention of going back in 6 months. These tests were expensive and weren’t yielding any results. I went on with my life, and my enlarged lymph nodes and cough, not giving the doctors or medical tests a second thought. Three months go by (it’s now August) and I receive a call from my pulmonologist. He kept thinking about my case and really felt like I needed to have my follow-up CT now instead of waiting another 3 months. This got my attention, but I still didn’t want to continue paying for tests that continued to produce zero answers. I told him I’d get the scan, and then ignored every attempt the radiology department made to schedule my CT. My doctor was very persistent and finally convinced me to get the scan. His persistence probably saved my life!
When I met with him to review the images, he said my hilar lymph nodes were still enlarged, but what concerned him was how quickly and how large my left axillary (armpit) lymph nodes grew! He was referring me to the Breast Diagnostic Center for an ultrasound of my armpit to get a better look at the lymph node.
September rolls around and I have my ultrasound scheduled with the Breast Diagnostic Center. I am once again handed a hot pink tie-over hospital shirt to wear. After they did the ultrasound of my entire chest and armpits, the tech had the radiologist review the images as I waited in the room. I started to get a little anxious when the tech was gone for over 30 minutes. When she finally returned, she said after reviewing the images, the radiologist would like me to get a mammogram now. She guided me to the mammogram room, where the mammogram tech took over. As she was performing the screening, she said “you’re too young to be getting a mammogram! What are you doing here?” What was I doing here?! ???
A few days later, the Breast Diagnostic Center called me and said the head of the department reviewed my scans and wanted to schedule a meeting and a fine needle biopsy. October 17th, I met with the doctor before going downstairs to have the biopsy done. I expressed to the doctor how frustrated I was spending money on tests that brought no answers. I already had a biopsy on the lymph node in my neck, why did I need to have this one done in my armpit? Wouldn’t it return the same result? He was adamant that I get the biopsy. He said that with a combination of my age and swollen lymph nodes, he was very concerned I had lymphoma. Again with “lymphoma” … it’s the kind of word that springs you into action.
I went downstairs for the biopsy, where I received my hospital gown and was guided to the biopsy room. By this point, I’m a pro at this. I know the drill. I know what to expect. What I didn’t expect was the candor in which the radiologist shared his professional opinion with me. He was the one that reviewed my scans and requested the mammogram. I asked him questions as he performed the biopsy. I asked him how he could tell which part of the lymph node was abnormal for the biopsy. He said “nothing about this lymph node is normal. This biopsy might come back inconclusive, but don’t trust it. Fight to find answers. In my 30 years of doing this, I would say 9 times out of 10 a lymph node that looks like yours is cancerous. I’m not trying to scare you. What I’m trying to say is, your doctor and I work very closely together, and whether it’s cancer, lupus, or something entirely different, we will figure out what’s going on.”
The dreaded “C” word….
After hearing that, I watched videos, read articles, anything I could get my hands on that talked about lymphoma. Sure enough, my story sounded an awful lot like many of the other folks diagnosed with Hodgkin’s Lymphoma.
The following Monday, I get a call from the doctor. By this point, I’ve learned that if the doctor’s office calls, it’s fine, but if it’s the doctor him/herself then it’s probably not good news. As I answer the phone, my hands are sweaty, and my heart feels like it will beat out of my chest. The doctor said the biopsy results are back and …
*drum roll please*
...the results are inconclusive. But he feels very strongly that the needle biopsy was inconclusive because of the small sample size. He wanted to remove the entire lymph node to run a series of diagnostic tests to figure out if this was cancer, a virus, an autoimmune disease, etc. I told him I was leaving town soon and wouldn’t be back until the beginning of the year. He said he would rearrange his schedule to get me in ASAP. When I realized he was willing to do that, it hit me how serious this was.
At this point, I hadn’t told my family that I went back to have additional diagnostic tests and procedures. After seeing how much they worried in the spring and the results were nothing, I decided not to update them until I had answers. And going under anesthesia and having a doctor remove a part of my body seemed like the perfect time to fill them in. No time like the present, right?!
My family was understandably shocked and upset with this update. After weighing the pros and cons of having the surgery, with my family’s support, I scheduled the surgery. My mom flew out to Houston for my surgery and to help me recover. When we arrived at St. Luke’s, I changed into the hospital gown, they marked my left shoulder to indicate the correct side for surgery and started an IV. I was lucky to have my mom there. She’s not just my mom, she’s my friend. The nurses and anesthesiologist all commented on how much fun we were having in a hospital, which probably isn’t a normal sight! We were laughing the entire time I was waiting to be taken back for the surgery. Laughter really is the best medicine.
Before they wheeled me away, the doctor came by to speak with me. He explained to my mom how my lymph node in my armpit was the size of an orange. No infection would cause that. Something was going on and the only way to get a definitive answer was to take it out and examine it.
The size of an orange. No one had really explained to me in a sense that I could comprehend like that. Something that should be the size of a kidney bean rapidly growing to the size of an orange. He was right. That wasn’t normal. I knew right then that I made the right choice in having this lymph node excision.
When I woke up, I learned that once they got inside, they saw that there were two other lymph nodes that were enlarged (about the size of limes) that they decided to remove as well. I had my own little fruit tree removed that day!
Twelve days after my surgery, I was leaving the country, so I needed to have a follow-up to make sure I was healing properly before jumping on a 16-hour flight. The doctor didn’t have any availability, so I met with his nurse practitioner. I hadn’t received any results from the biopsy in those 11 days post op, so I was going into this doctor’s appointment with hopes to receive some answers. The nurse practitioner gave me a large packet of the pathology and lab reports run, and they showed:
It wasn’t cancer.
It wasn’t tuberculosis.
It wasn’t an infection.
It wasn’t fungal.
It wasn’t lupus.
It wasn’t rheumatoid arthritis.
It wasn’t a whole host of things.
It was missing the information I wanted most of all – what was it?! The nurse practitioner wasn’t up to speed with my case and couldn’t answer any of my questions. I left the office and sat in my car in the parking lot and broke down in uncontrollable tears. I had the surgery so I could find answers. While I was extremely relieved that it wasn’t lymphoma, I was frustrated with the thought of being back to square one. I had spent all of this time and money and even gave a piece of me to find answers. I had nothing to show for it.
Two hours later, the nurse practitioner called me and said, “I felt unsettled with our conversation. I decided to go to St. Luke’s and see if the hospital had more information in their system that I had missed. Sure enough, the labs show Castleman-like features and high levels of IgG4. This information is pointing to a few rare diseases. I’m sending this information to your doctor but wanted to let you know what I found first.” My hope was restored.
The next day I took a 16-hour flight to Melbourne and when I landed, I had a voicemail from the oncology/hematology department saying I was referred to them and they wanted to schedule an appointment. I was able to squeeze in time when I got back from Australia before I left the country again. On December 7th, I met with my new hematologist, Dr. Patel (my favorite doctor I’ve seen!)
My first appointment with my hematologist was unlike any doctor’s appointment I’d been to. We met for two hours, as he explained what IgG4-RD and Castleman’s Disease were. Since the excisional biopsy revealed signs of both IgG4-RD and Castleman’s, he wanted to run a number of tests to pinpoint which disease I had and figure out what my baseline was. He wrote orders for 25 blood tests and 4 CT scans (pelvis, abdomen, chest and neck) so I could finally receive a diagnosis. He also mentioned that he had met in person with my pulmonologist, breast doctor and radiologist, and ENT to discuss my case, and they presented my case at a pathology conference to make sure they were headed in the right direction with regards to diagnosis.
After the holidays, I took care of my tests. When the phlebotomist was drawing my blood for the 25 tests, he said that was the record he’s ever done on one patient at once (my doctor think’s I hold the record for most blood tests ordered at once so… put that in your book of world records Guinness!). I was pretty nervous for the CT scans – only because I would have to drink the dye. I was guided to the dressing room where I was handed hospital gowns to change into and given my two full glasses of “lemonade” to drink for the scans. The drink wasn’t as bad as I had built it up to be. Isn’t that always how it is! I was led back to the room with the CT machine where they started my IV and instructed me to lay on the table.
I just met with my doctor again on February 7th, where he officially diagnosed me with IgG4-RD after reviewing my labs and scans. My IgG4, LDH, and platelet counts were through the roof. My scans showed that my spleen was twice the normal size and my lungs had formed several new nodules.
When I met with my doctor, we discussed treatment options and what would work best in my case. The standard treatment is the steroid, prednisone. It is usually taken for 3 months and then tapered for 2 months. If the IgG4 levels are back in normal range after treatment, you are in remission, which on average can last up to 6 months. Unfortunately, steroids also have several adverse side effects. Rituxan is another drug that is being used to treat IgG4-RD. It’s a drug delivered through an IV infusion, doesn’t have the bad side effects, and results in longer remission. However, it’s very difficult to get your insurance provider to approve Rituxan. I just found out I was approved for Rituxan and will have my first infusion on March 1st! Miracle!!
Looking back at this entire journey, I can see so many of God’s tender mercies unfolding in my life. I am so grateful I took a job in Houston where there was a coordinated care system like Kelsey-Seybold, that encouraged doctors from all specialties to work together to diagnose and treat patients. Without this coordinated effort, I never would have been diagnosed with IgG4-RD. I’m grateful for a pulmonologist who was inspired and persistent, a breast doctor and radiologist who were not satisfied with inconclusive results, and a hematologist who was humble enough to ask for help. And I’m especially grateful for the support and prayers from my family and friends.
What is IgG4-RD?
IgG4 is an antibody our body’s produce to protect us from antigens (toxins, bacteria, viruses, and chemicals). Sometimes, the body creates antibodies to fight against itself, mistakenly treating organs and tissue as foreign intruders that need to be destroyed. That’s what is happening in my case. My immune system is mistaking my organs, especially my lungs, as a foreign substance that shouldn’t be there. It is over-producing the antibody IgG4 to fight what it believes are antigens, but what are really my vital organs. This autoimmune disease causes serious damage to any organ, which usually can’t be reversed. That’s why it’s important to get a correct diagnosis early and to begin treatment right away. I am lucky because I was diagnosed fairly early before too much damage was done. Many people are not so lucky.