If you know me, you know I jinx myself 24/7. So, it would only be appropriate that right after I publish a blog called, “The Undiagnosed” I would GET DIAGNOSED shortly after. Yes… you read that right! I GOT DIAGNOSED! I want to say it a million times every time I’m talking about it. If you don’t know my undiagnosed story… it’s long and complicated and overwhelming, but it’s a true testament to never, ever, give up.
Here you go…..
I was a healthy baby & a healthy kid until I was 12 years old. But, when I hit 12 they discovered I had a rare condition in my left knee called Osteochondritis Dissecans. It basically is a joint condition in which the bone underneath the cartilage of the joint dies due to lack of blood flow, causing a piece of your bone to break loose. So, I ended up having 5 open knee surgeries from the ages of 12-19. In the middle of those years, they also found a fracture in my lumbar spine on my L4-L5 vertebrae’s and I had a spinal fusion when I was 15. When I was 16 years old, I was diagnosed with PCOS and then for the following years I had some weird things happen like chronic sinus infections and strep, terrible case of mono, bad infection from wisdom teeth, etc. but I was able to live a pretty normal teenage/young adult life.
And then in November of 2016, I had stage 4 kidney failure. I woke up one day out of nowhere and was in excruciating abdominal pain. I went to the ER and they told me I had a very small 2 mm kidney stone & sent me home with all the information about passing & collecting it. 3 days later I was rushed to the ER again… the kidney stone became sepsis, I went into septic shock and stage 4 kidney failure. I was then admitted to the ICU for renal failure. Over the next 35+ days, they tried many different procedures, tests & tactics that were so so so painful & traumatizing. But they ended up doing an emergency full right nephrectomy (kidney removal). They didn’t know if I was even going to make it at times, but that’s a story for another day. After I was released from the hospital, due to the amount of antibiotics I was on, I got a very bad GI condition called C.Diff. Colitis & ended up having a fecal transplant. I also had a complicated postop because I had a large abscess at my surgery site. Along with that aftermath, I lost all my hair & had to wear a wig for 10 months. (*Note hair loss)
After all of that… I got back on my feet. I was back in school for math, lived with some of my friends downtown. Life finally seemed in place. Until it wasn’t.
On September 17, 2018 I called my parents from school & told them I had to go to the Emergency Room because I was in so much abdominal and back pain. We get to the ER and the doctor runs a lot of different tests after grilling me on my drinking, social life, and mental health. Instead of doing more diagnostic testing, they accused me of pancreatitis caused by excessive alcohol. Finally after an MRI, my GI doctor who I knew from my kidney failure saw me and asked if I knew I had significant Degenerative Disc Disease and Spinal Stenosis, (come to find out, I also had 3 annular disc tears from L3-S1 on my lumbar spine that were leaking.) This happened literally out of nowhere. It absolutely was not pancreatitis and that started just a terrible run with doctors who didn’t understand me. So, I was trying different, very invasive/painful treatments & in an excruciating amount of pain. My orthopedic surgeon decided they were going to do a 4 level, front and back lumbar spinal fusion on me. Because of this and the long recovery it was going to be, I had to leave my lease, move back in with my family, & stop going to school. The surgery was supposed to be on Friday, February 15, 2019. This wasn’t in the plan God had for me because 4 days before, on that Monday… I was rushed by ambulance to the hospital & they found one of the worst blood clots (DVT’s) they had ever seen. It was in my left leg & it went from my ankle to my stomach. They put me in ICU & I had a very painful procedure (TPA) to try to get rid of the clot, but they could only get about 40%… so unfortunately, I had some of the clot break off into my lungs to form Pulmonary Embolisms. I had 2 incidents where the crash team had to come in. Thankfully I became more stable & I was finally able to go home after 2 weeks. My left leg still has damage that presents itself as going numb, tingling, and turns purple/red.
After settling back in at home after the DVT/PE’s, everything started to go downhill and to this day I have never felt the same as I did before the clots. We found out I have a very rare blood clotting disease/autoimmune disease called Antiphospholipid Syndrome, which requires me to be on Coumadin (a regulated blood thinner) forever. Then, they found I had complete bladder paralysis, requiring me to have a foley catheter for 9 months. When things really took a turn for the worse in May 2019, I was referred to a rheumatologist at UCLA because my former hospital said I needed tertiary care. Right around that time, Lupus was beginning to be talked about because of the complex medical history I was starting to build up. When we saw the rheumatologist, he also agreed it sounded like some sort of connective tissue disease and ran every test known to man. Clinically, he diagnosed me with Raynaud’s Phenomenon which is decreased blood flow to the extremities resulting in numb, cold, discolored skin. With the 19 vials he took, there were some markers that came back involving my thyroid that led me to get diagnosed with hypothyroidism due to Hashimoto’s. This is an autoimmune disease where your immune system attacks the healthy tissues on your thyroid and causes inflammation preventing the thyroid from producing enough hormones. So- this takes my autoimmune disease marker to 3. My ANA was negative and all my other markers for specific connective tissue diseases were negative so he didn’t want to do anything further. We were very frustrated and just felt like we knew for certain I had Lupus despite the negative blood tests. We just felt it. I was/am dealing with extreme fatigue, joint pain, nausea & vomiting, fevers, body aches & pains, a very obvious butterfly rash, tachycardia, brain fog, migraines, dry eyes/mouth, stomach problems, and so much more.
A couple months after that, now August 2019, they found I had complete right side diaphragm paralysis, which is extremely rare and I was put on 4 liters of oxygen 24/7 indefinitely. While I was finishing my extensive pulmonary function testing, I saw a new rheumatologist. This rheumatologist was by far one of the worst doctors I’ve ever had and I knew the vibe was off the moment we met her but I felt like it was now my fault that 2 rheumatologists didn’t have much to say besides “you’re really complicated and something is wrong but we dont know what and we aren’t willing to try any treatment for you”. She eventually gave it the name Undifferentiated Connective Tissue Disease (UCTD). This is the box they put you in when you have the characteristics of an autoimmune disease but you dont meet the criteria to be diagnosed with one. The main 4 autoimmune diseases UCTD usually emerges as is Lupus, Sjogren’s, Scleroderma, and Rheumatoid Arthritis. This rheumatologist refused to start me on any treatment. But then in October of 2019, I was hospitalized for 2 weeks and while there, I had a slightly positive ANA and very high inflammation numbers, so the inpatient hospital rheumatology team decided to start me on a treatment pill, Plaquenil (Hydrooxychloroquin), for the UCTD. I was on it for 7/8 months and had no improvement of any symptoms so we discontinued it. When we discontinued it, the rheumatologist looked at me so hopeless like she had no other ideas and had nothing of any value to offer to my health, so we decided to part ways.
Seeing no light at the end of the tunnel, we decided to apply to the Mayo Clinic to get a second (3rd?) opinion. They said it could take 3 months to hear back on whether they would accept me as a patient or not. We were seriously confident and didn’t think by any stretch of the imagination they would decline me. I mean, aren’t hospitals like this supposed to fix people like me? But, they didn’t accept me as a patient and we had to wait 6 months to reapply… so, that door was shut for the time being. It wasn’t terrible timing because I was dealing with SO much. A couple of days before Christmas 2019, they accidentally found an extremely rare brain tumor called a Cholesterol Granuloma. It is benign. But only 0.6 per 1 million people have this kind of tumor. It carries symptoms such as double vision and hearing problems. It is in the most inaccessible part of my brain, which complicates things. We are monitoring it every 6 months with imaging and will only proceed with treatment if absolutely necessary. Also, starting in October 2019, I was getting really bad kidney infections, and UTI’s. I had urosepsis 5 times since. I was on and off of IV antibiotics, fluids, PICC lines. In and out of the hospital every 2-3 weeks. Not kidding- 13 times last year for a minimum of 3 days every time. In March 2020, they found a large, Klebsiella infected kidney stone that they had to remove. It was COVID- so every single hospitalization I was alone the ENTIRE time. It was hard. And all I kept hearing was “You’re so complicated and complex and we know that you’re really sick and something is going on but we just don’t know what.” Teams of doctors in and out all day, telling me the same thing. It was exhausting. At this point, we decided to apply to the Mayo Clinic again. This time we felt we had some more direction, and after 3 months, we found out I was accepted and we would start by seeing them for 2 weeks in June 2020! We were over the moon, it was like every prayer ever said was answered and they were really going to think outside the box and crack the code. We were so so hopeful.
This is where we take a brief intermission to absorb all this info and get prepared for part 2 of my diagnosis journey on the next post! Thank you so much for reading and for the never ending support! Please comment, follow, and share if you wish!