My Story

Diagnosed Pt. 2

We spent 5 weeks at the Mayo Clinic. We were blessed to be able to stay with family because we went over the course of the entire summer (2020). We started with rheumatology where they ran another whole blood panel for autoimmune diseases and other disorders. In the meantime of those results, she sent me to 6 specialists to get second opinions on things like my bladder cysts, diaphragm paralysis, immunodeficiency possibilities, etc. Each doctor agreed something systemic was going on but each individual problem wasn’t going to get fixed until my whole system got fixed (AKA diagnosis and treatment). They also blamed a lot of my diseases and ailments on my weight and opioid use and were insensitive without offering help. My ANA was negative again and all my bloodwork was pretty unremarkable… even my normally high inflammation markers. Because of this, the rheumatologist did not give me a diagnosis or offer to even do a trial of a medication. We pleaded with her for almost 2 hours, during what was by far one of my most traumatizing doctor’s appointments and we left completely empty handed and heavy hearted.

The Immunologist I saw recommended genetic testing for me and that is when the ball started getting rolling. We began the genetic testing in August 2020, and just finally got all the results back in the end of January of this year, 2021. It came back with 5 genetic mutations but only 2 of them were pathogenic (disease causing). The main genetic mutation I have is called CTLA4 and you can think of it like the brakes of your immune system. My CTLA4 malfunctions, so my immune system has no brakes, therefore causing my body to attack healthy tissues. CTLA4 haploinsufficiency has multiple autoimmune diseases associated to it. When we received these results we immediately started googling like we always do and all that came up was a lot of scientific research articles and complicated medical journals. It still seemed like this was exactly what I had and was the golden ticket. Unfortunately, the doctors STILL refused to diagnose and treat. So… we talked to multiple doctors on my team and got a referral for one final rheumatologist for a 4th (outpatient) opinion. He was booked far out into March so we anxiously awaited. In the meantime, when my Whole Exome Sequencing came back in January, it had another genetic mutation called f12 and that can lead to a disease called Hereditary Angiodema (HAE) Type 3. I spoke to multiple doctors and an HAE specialist who didn’t think I completely fit the profile for HAE and thought Lupus was a much more fitting diagnosis. He actually knew the new rheumatologist I would be seeing and mentioned he thought out of the box and would be very helpful for my case.

SO, that brings me to March 4, 2021. The day I got diagnosed with Systemic Lupus Erythematosus (SLE). To say I was nervous would be the understatement of the century. I was switching off between praying and deep breathing and I could feel/hear my mom doing the same next to me. I had the biggest pit in my stomach and I felt like I was going to vomit. To us, we didn’t have any other ideas after this. I had my normal follow up visits scheduled with my doctors but we had no other plans in place to try to get me on treatment. We didn’t even care about a name of a disease at this point, I just knew I couldn’t keep feeling like this and living life this way. The rheumatologist was so so so kind and lovely. He was empathetic, funny, smart, and really thought out of the box. He also didn’t mind that my ANA’s were mostly negative because of all the other criteria I met, and that’s HUGE!! ANA’s are the gold standard in autoimmune cases, and most doctors get hung up on that. Anyways, we were there for about 1.5 hours and we went over literally everything. There wasn’t a topic about my health that we didn’t cover. And finally when we began to talk about the CTLA4 haploinsufficiency , he literally said, “I think it’s Lupus” and sat back. I looked at my mom, like we both had this look on our face that was probably priceless. Anyways, we talked about treatment and he decided to put me on a biologic (immunosuppressant) called Abatacept or Orencia. He chose this because it also works with your T cells to provide me those brakes that the CTLA4 took away! If that makes sense, HA! But, the Abatacept comes in weekly shots or monthly infusions and I decided to do the weekly shots so I can do it at home and don’t have to go to an infusion center every month.

Another thing I will note is that when the new rheumatologist ran some tests to clear me for treatment, my numbers showed that my protein/creatinine was decently high in my urine meaning my kidney is leaking protein & I might have something called Lupus Nephritis which is kidney disease. I was referred to a nephrologist and we see her April 1st. They will probably do a kidney biopsy but I will keep everyone updated!

SO, here we are. 3 years later… with a diagnosis. I definitely believe that you need to go through the 5 stages of grief with a new diagnosis or at least experience some of those feelings when it sets in that you have something new, but honestly I’m so thrilled I finally have a diagnosis and treatment that I’m still riding the wave of relief. I know that Lupus isn’t something to be thrilled about- it’s hard, debilitating, inconsistent, unpredictable. It’s scary, honestly. But, I guess I just feel like I can tackle it now that I know what I’m dealing with. I’m hopeful. Really hopeful. And so is the rest of my team. If I could offer any advice, it would be this: You know your body… better than ANYONE else. So if you are being dismissed or gaslighted- KEEP PUSHING. Go see doctor after doctor until you find someone on the same page. Don’t give up. I know it can be exhausting, take a break if you need. Say “okay I’m not going to see any new doctors or seek out a diagnosis for 3 months”. & then adjust your timing based on where you are mentally… then pick up, & keep going. I cannot emphasize enough how important this is. When we left empty handed last August after Mayo, we decided we weren’t going to seek out any new doctors or appointments until the first of the year. I think we were reaching a level of desperation and burn out that was really challenging and I know that I was in a terrible place mentally. It gave us the reset period we needed before starting up again in January. My family all agrees this period of rest was necessary for us to continue.

If you made it this far, THANK YOU for reading! If anything stuck out to you, shoot me a message! Keep staying hopeful! Reach out if you need support or guidance. I’m here for you & so are many others! 💜🦋✨

**DISCLAIMER ABOUT MEDS AND DOCTORS AND PLAQUENIL AND SUCH: Just because something didn’t work for me, doesn’t mean it won’t work for you. I am not offering medical advice or suggesting any treatment. Please consult with your doctor before trying anything new!

2 thoughts on “Diagnosed Pt. 2”

  1. Wow this is an incredible battle you’ve fought ! It’s really interesting that your bloods were negative all the time, for years I’ve had medical issues and they’ve done numerous tests and my bloods are always 100% fine.

    Since September 2020 I’ve been experiencing lupus like symptoms and they ran tests but, the bloods came back negative. I am still battling with the malar rash and am due to hopefully see a rheumatologist in September.

    Thank you for your story and sharing it brings a sense of hope x


    1. I am so thankful my story brings hope to you. That’s my purpose in writing always. Yes some of my bloods til this day are negative and I very much so have lupus. So don’t give up!!!!!!!!


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