My journey, like many others has been a long one to diagnosis. My teen years were speckled with Dr. visits with no answers. During the summer before 9th grade I started getting welts with sun exposure so I had to give up swimming in our pool. During the fall of 9th grade I started getting pain and swelling in my right wrist, the Dr x-rayed them and said nothing was wrong and that if I continued to complain about it he was going to put me in a cast. I never again complained about the pain even though I still get pain in my wrist to this day.
Fast forward about 10 years later in 2001 a few months after the birth of my son I started complaining about numbness and electrical sensations in my feet and hands and puffiness in my hands. The first Dr. I saw told me “what do you expect when you’re obese?” Not what a mother of a 3 month old who is only 30 pounds overweight wants to hear. The next couple of Doctors blamed depression. But I knew I wasn’t depressed and the antidepressants they gave me made me feel so emotionless that I had no drive, no happiness…just no emotions what so ever. So I stopped the medications and stopped complaining. And threw myself into working on my Master’s degree and focused on being a good mother.
Almost 4 years later, near the end of 2004, I woke up one day and from the waist down everything hurt and I was more exhausted than I have ever felt in my life. I thought I must have caught flu. When it didn’t get better a few days later I thought “It must just be stress” as I was in my last quarter of my acupuncture program, working almost full time teaching outdoor science for the county’s department of education, working as an acupuncture intern, studying for my board exams and taking care of a 4 and 6 year old. So I took some time off of school.
A couple of weeks later I developed nonstop vertigo…then a few days later hearing loss, more electrical sensations, numb spots on my back and legs, loss of ability to distinguish between cold and hot water, my legs became weak and were just giving out on me at random . This became when the Doctors started suspecting something “autoimmune” was going on. More specifically they suspected multiple sclerosis. The ENT I saw did an electro-nystagmus-gram and felt that my vertigo and hearing loss were due to the central nervous system. The first neurologist I saw examined me and ordered MRI’s and blood workup. Everything came back normal except my ANA and RNP. But I was told that because my ANA was not a high enough titer that I didn’t have anything like Lupus going on. And that everything else looked normal. And to be happy because whatever was going on “wasn’t going to kill me, it was just disabling”.
Not having any clear-cut answers meant all my primary care doctor could offer was symptomatic treatment. Most medications they tried me on were not without side effects, so it meant I was largely on my own with treatment so I focused on lifestyle choices, acupuncture and other natural treatments
The flare that hit in 2004 lasted about 10 months and took me almost another 18 months to recover. Just in time to be hit with another flare summer of 2006. Only this flare began with vision loss before the other symptoms I had with the previous flare came about. A few Doctor visits and I had a diagnosis of Optic neuritis with them once again suspecting multiple sclerosis due to my age (I was 31), being of Caucasian decent and the optic neuritis. My internist and ophthalmologist expected a clear cut MS diagnosis from the neurologist. But once again my MRI’s were normal as was my spinal tap. And once again my flare lasted nearly a year and took me over a year to recover.
Another big flare hit in 2008 with all the above symptoms. This meant another round of testing for MS, which once again all came back normal. I even went to a MS specialist who said no MS but he felt it was autoimmune of some sort and sent me to a neuro-ophthalmologist who specialized in early diagnosis of MS. According to her my exam was abnormal but backwards of what she would find with a MS patient. So once again I had no answers. But here I was 33 and having to use a cane to walk around, missing my old body.
I ended up with a nice remission during a pregnancy and the near 3 years my youngest was breastfeeding. Only to be hit with another flare, but this one was different I didn’t have the optic neuritis instead I had bilateral joint pain, stiffness, changes in my skin, the welts I use to get as a teen from sun exposure were back, my eyelids were turning a purple brown color. I ignored it….because why subject myself to more testing again.
Then in 2012 my 13 year old daughter complained about her foot hurting her, this was after a year of repeat visits with the pediatrician for nausea, vomiting, migraines. Once again the pediatrician said nothing was wrong. But mother “instincts” took over and I took her to a podiatrist for a second opinion (thank goodness for having a PPO plan) who noticed bone erosion in a couple of joints on the x-ray which were typically found in rheumatoid arthritis. Her labs came back positive for Rheumatoid Arthritis. And at her doctors recommendations I had my internist send me to a rheumatologist,
This rheumatologist ran my labs and once again my ANA and RNP came back positive. Then he looked at my records and said all along I’ve been dealing with an overlap disease that is like Lupus. And that this flare was different because Mixed Connective Tissue disease likes to morph. He did tell me that my symptoms were mostly lupus and RA like and that it had the ability to morph into having the antibodies for those.
So in November of 2012 just a week after my daughters diagnosis, I was diagnosed with MCTD and put on plaquenil (we did try methotrexate for a bit but I whined about the side effects).
That rheumatologist left the medical group, and the new rheumatologist says my ANA is not high enough for a definitive diagnosis, as my titer is so low that he wouldn’t have ever considered it a positive result. So he changed my diagnosis to undifferentiated connective tissue disease. So a few months ago, I late 2014, my diagnosis was changed to UCTD.
I guess it doesn’t matter the diagnosis at this point as it doesn’t change the treatment. I am still on plaquenil daily along with NSAID’s and opiate pain meds as needed. I eat a high plant based paleo diet and to lymph moving exercises and stretching daily. And am as close to the “old me” as I’ve been since 2004. I am looking forward to continuing to regain strength and stamina.
While at times I feel this journey has taken much away from me, it’s also benefited me. I’ve had to take better care of myself by getting adequate rest and eating well which means I am in some ways healthier now than I was years ago. Being forced to slow down meant I got to enjoy my kids and be involved in their school life and along the way I have made some great friends who are dealing with MS and/or MCTD. And my own experiences has given me the ability to relate to what my daughter is going through and offer her some strategies to cope with her RA.