Today is World Rare Disease Day 2022. As someone who has been battling 3 Rare Diseases since 2014, I am 1 in 10. Rare Diseases are not rare. Did you know that on average it takes 7 years to be properly diagnosed. That is 7 years of progression and innumerable struggles. Did you also know that 2/3 of our world’s Rare Disease patients are children? If you want to read about a true Hero, check out the blog I wrote with my friend Alison about her son Carter, here. My hope in writing this post today, is to bring awareness to Rare Diseases and let others know they are never alone!
I haven’t shared my Rare Disease story in a couple of years. Things are always changing and I am a work in progress for sure. For those who are interested, here’s my Rare Disease story so far:
2014 – The 1st year of our youngest son’s life. In one year, I went from Stay-at-home Mom of three young boys doing ALL the things, to completely physically disabled and in 24/7 severe intractable severe pain. This time of our family’s life marked the beginning of our journey toward finding correct diagnosises and treatments to hopefully get us back to who we were before this nightmare began. All hands were on deck from family, friends and Doctors as they supported us through the beginning of an unknown journey ahead. Some short term relief was given at times from consitent multiple holsitic treatments and pain management. They were short lived and symptoms progressed to affecting every nerve, organ and bodily system, from my ribs down
2015 – 1st Rare Disease diagnosed and my 10 Sacral Tarlov Cysts were surgically treated. It was a miracle! That story in and of itself about how God led us to THE world renowned Tarlov Cyst Surgeon, is a true miracle. People literally come from all over the world to see him and his Nurse just happened to be my Chiropractor’s Cousin and his main office just happened to be 30 minutes from our home. We thought this was it! Sure we had a long road ahead of us with recovery being a 1-2 year journey, but this was it! We are forever grateful for the support our church, family and friends gave us during this time! We could not have gotten through those first two years without them! I couldn’t lift babies in and out of cribs, change a diaper, bathe the littles or even myself without asistance, grocery shop, cook, etc. They were literally my hands and feet. Again, Rare Disease. So for my particular situation that equated to very little medical support or resources. We had to figure it out as we went.
2016 – It became apparent that the surgery was only one piece of the puzzle. I began struggling with new symptoms and things began to progress again, quickly and severely. My improvements were very short lived. I began having trouble with my vision by the end of the year. More Doctors, more tests, more treatments.
2017 – This was our most difficult year. So many Doctors. So many tests. So much pain. So much discouragement. Simultaneously, new doors were beginning to open and God was leading us to where we needed to be next. We were just clueless as to where that was at the time. Blind faith and in the midst of it all, peace that passed all understanding.
2018 – Valentine’s Day week we received the news of my 2nd Rare Disease Diagnosis. An inflammatory disease that had progressed to affecting my entire Central Nervous System called, Adhesive Arachnoiditis. Since that time, it has now been removed from the NORD database (National Organization of Rare Diseases), but is still considered rarely diagnosed. My case of both Lumbar and Cervical Adhesive Arachnoiditis was considered to be in severe late Catestrophic stages. It had been there all along from my first images, but was missed. I was told that if I didn’t make MAJOR changes to my lifestyle and medical treatment, the future looked very bleak. It scared me. I cried for two solid weeks. My Doctors insisted that I not give up hope though! If I could begin the recommendations given to me, I could stop Disease progression and maybe even see some healing. So I dug my heels in and 4 years ago I made some big decisions as I forged ahead on my healing journey! I began the Wahls Protocol for my diet, the Tennant Protocol for guidance on meds, and I did a lot of genetic and nutritional testing to help guide the supplements my body desperately needed to help feed my mitochondria and produce healthier cells. It was not going to be a quick fix. I was told the Wahls Protocol alone could take up to 7 years to see a major turn around. Half my Doctors were on board with the treatment path I wanted to take, half weren’t. There were risks involved with the meds I needed. From all my research, I knew the risks of not taking them were even greater! God pruned my medical Team and made them even stronger! I decided that for the rest of my life I would do everything I can to give my children and Husband, the best version of me possible! By the end of 2018 my vision was improving, the Neuroinflammation was improving, the pain was slowly becoming better managed, hope was abounding! I started being able to attend some Birthdays and family events I had missed for a few years. I was finally able to host or attend the occasional play date for my boys and their friends from school. Such an exciting season!
2019 – Continued slow improvement. Pushing boundaries and adding more physical therapy back into my routine. That Summer I had the idea for what became Rare Love. That began my journey of building some self confidence back. I desperately wanted to figure out how to go forward even with physical limitations. Under the advisement of my Doctors, we also began the process of genetic testing for a third possible underlying rare disease.
2020 – Amazing news! January MRI imaging showed massive physical improvement to the adhesions surrounding my nerves that had been affected by Adhesive Arachnoiditis! We thought this meant remission. But not exactly. The damage was still there. I need to keep doing all the things to keep symptoms manageable. Still amazing though! My daily fight became solidified in how imperative it is to be consistent and not give up on all the little things that add up to big things. If I pull back, symptoms return. But on the flip side, when I keep doing all the things – I keep improving! I was so thankful to be at this place of my pain being well managed most days as the unknown hit all of us and the Pandemic began in March. I began homeschooling all three boys and that became a HUGE blessing of God redeeming the years lost to these crazy Rare Diseases. I also found out about my 3rd Rare Disease Diagnosis of Ehlers Danlos Syndrome in 2020. This genetic connective tissue disease began to help us put all the pieces together. It was an underlying factor to my body developing both Adehsive Arachnoiditis and symptomatic Tarlov Cysts. Soon after the Pandemic started, I chose to close down Rare Love. It became imperative for me to streamline my energy and focus towards navigating the challenges of the Pandemic and the extra demands that put on my family and health.
2021 – What a year! So much healing and growth in our family!!! The daily habits I had developed from my healing journey became second nature and were bearing much fruit of improvement. I was able to build on top of the momentum those improvements gave me. We put the kids back into their school they love, I built another online business, volunteered to teach online Bible Study for our church, took a family vacation for the first time since 2014, had friends and family visit from out of town…and so much more!
2022 – It was a rough start to the year with having Covid for the second time during this Pandemic, and another lung infection immediately afterwards. It took a toll on my nerves and inflammation levels so it’s going to take a while to get back to where I was by the end of 2021. I am confident in the Lord’s provisions though and I will continue to heal!
To everyone battling a Rare Disease or walking alongside a loved one who is, please know that you are not alone and you are always welcome here.
Take care and tall to you soon!
– Anne V Wheeler