My story
Getting re-diagnosed in a pandemic. This past year was a whirlwind for many people and reasons. From the pandemic to the world slowing down and reevaluating the needs of our daily lives. Everything made the shift to virtual in our day-to-day. While science seemed to be winning the battle, our culture was emerging into a battle of itself. From racial wars to the divide and relaxation that the land of the free was not so free indeed. The pandemic had a great impact on our economy but also showed the lack of common ground and resources for all Americans. I found myself torn, I knew I could not stay silent when the world was in an ache but then I also found myself in an inner battle about what was being asked of us to slow the spread.
As a chronically ill patient, myself. I am no stranger to staying indoors more than normal and having to be extra cautious. I have had to do this throughout the past year when my treatment plan required surges and travel away from Texas. But, I still struggled to find that understanding of what truly was being shown of our culture. Was it truly so hard to do what was asked? To help another in a time of emerging health needs? But that will always be a topic that we'll be brought to the dinner table for years to come. With the pandemic still raging, I found myself in need of medical care and questions as all of a sudden my body just didn’t feel right. I have been diagnosed since I was a toddler as having Klippel tenancy syndrome. This was the diagnosis for my left side, which is mingled with extra veins from a vascular malformation. The lymphedema and nerve damage and in summary why my entire left lower limb is blue.
Now bring it to 2020 and 2021 as I write this. Science has improved in many regards and leaps and bounds have been made for research especially in my community. The community of rare diseases. My journey with this has been a long road, I embraced the highs and lows and twists. I have a deep acceptance of what I have. I know, it is not my fault, I know that just my genes are funky and that the steps I have been on so far are a part of the disease understanding. As an advocate for this community, I found myself questioning how much I really have accepted it? When the world slows down and all the guides and points came out of “ How to stay at home” the mental fatigue off the quarantine. I became harsh, I know I have the condition I do and that it is okay but I couldn’t help but compare to those who all of a sudden are experiencing what I have had too for a long time.
When the world opened back up, medical appts became an option and the list began. It was not only the chronically I'll population but everyone that came out of the woodwork needing care that had been postponed. With my condition, locally in rural Texas, I don’t have many options. Mainly I need strong primary care that understands the needs of my malformation. I don’t always have the textbook signs and symptoms like many in the invisible illness community. Another provider is my hematologist and oncologist, they track my blood work, etc when I am in town after Mayo’s surgical treatment. So, when my body started acting off and things just weren’t as normal I knew where to go. The Hematologist. I undertook the genetic testing to see if have BRCA1/BRCA 2 as I am getting older and the risks this gene mutation could bring starts manifesting. Which puts you at risk for cancer? Immediately, My doctor agreed, we went under the testing process.
The re-diagnosis process
To get genetic testing, you have to fit the criteria, but also the needs of a counselor and this is where life gave me one of those highs I was not expecting. In speaking with the genetic counselor we discussed my history and my family history. We saw with the advantages of science we now know what specific gene could cause Klippel Trenaunay, which is the diagnosis I have had. So, we were excited to get this done and see if I did have Klippel alongside BRCA1/BRCA2. This was also going to be done on a wider panel than normal since I was already more “sick” than the average twenty-four-year-old. Fast forward, three weeks later the time came. I was called to come in with my results. Knowing the phone call is coming was one thing, but when it came my heart sank. I knew the gene results would be one of two things further, proof I have this chronic illness and or I needed to start screening for cancer too. I knew in my heart though or maybe even my brain deep down. Either way of what I faced, I would be okay. I would make good of what I would be given. I cling to many things in my life for aspirations and to keep moving forward. The pandemic limited the social interactions and means but it helped me develop the sense that my story would be mine and would make it no matter who could be in that room with me. I could handle the appointment.
When the day came, I sat in the waiting room I heard the doctor outside the door asking for a “Thyroid ultrasound and panel.” I have had issues with my throat and many of the signs and symptoms, but never correlated and at that moment I knew. That’s me she’s talking about. When she walked in, she had many papers and a folder and started with I have “news.” I in fact I did not have the BRCA1/BRCA 2 gene mutation which was good! But, also meant with hesitation because I did not have the PI3CKA gene too, this is what causes Klippel Trenanunay.
In fact, I had a PTEN Mutation. This means I have Cowden Syndrome/PTEN hamartoma tumor syndrome. Just like BRCA with the increased risk of cancer, but I added my thyroid into the mix of cancers alongside some others. Shocked but also in awe, partially because a girl loves her science. This mutation causes vascular malformations which is my entire left side as we know, Macrqcerplhy which is a larger head than normal. I would be referred back to oncology, I needed to get a routine screening. I would need to get checkups for the rest of my life and treatment of what tumors could develop in hopes of not getting cancer.
Step one. We test and scan every inch and look for what I have. This leads me to the longest two months, I have faced in a long time. The scans and imaging and blood work lead to many things, but also what they did have as a result was showing that in fact, I already have some changes in my thyroid. A handful of nodules of various sizes, and changes in the shape of my through. Those symptoms of my body knowing something was wrong were true and I’m thankful that I had providers that linked to my advocating of the fact I did not feel right and my throat anatomy was changing.
The other scans showed things to keep an eye for but nothing that needs to be treated right now which is a high and a little win. As I type this, I await biopsy and further testing of my neck and the care plan to manage is being developed I know, in fact, that this mutation is actually here. Which, sounds silly because I have the results but I did think I had more time to start prepping for screening, etc. Even to know more about the syndrome but that is okay. There is a common bible verse we all know or can easily google “This is the day.” While I learn and find more people like me I think of this. It's just another day in the story of my life.
Keep moving forward
Whatever results I have coming it’ll be okay. I wonder why now and why when I can’t have much support or interaction but I have faith that there is a reason. This pandemic has taught me many things including that I needed the work to be put in to be my own advocate alongside the one for others. A diagnosis is hard to take and gives you many options of what way to go in how we take things. But, I know my life has given me a strong urge to be a voice and stand in the gaps for those without a voice. If anything comes from my stay, or in reading this I hope it shows that amongst how hard this has been for people there is still hope and there is still light it’ll get better we just have to remember “this is the day”. We have the choice to make it what we want it to be, even when the life around us starts to slow down.
