Fighting From Day One: A Lifetime of Health Challenges
Published on:
April 1, 2024
What have you been diagnosed with?
My two main conditions are Hypermobile Ehlers-Danlos Syndrome (hEDS) and Common Variable Immunodeficiency Disorder (CVID). Every other condition stems from one of these two conditions. So, in addition to those two, I also have Gastroparesis, POTS, MCAS, Small Fiber Neuropathy, Intestinal Failure, Raynaud’s, Endometriosis, Post-Sepsis Syndrome, Oral Allergy Syndrome, Autism, Major Depressive Disorder, cPTSD, and Generalized Anxiety Disorder.
How did you first notice something was wrong with your health?
I have been sick since I was a baby. I suffered from two severe kidney infections as an infant, along with seizures for the first five years of my life. I plateaued into “typical” health until sixth grade when a bacterial infection in my stomach landed me in and out of the hospital for a year. Once again - and without any answers - I got reasonably healthy and continued to not have debilitating symptoms again until college.
When did you first start experiencing symptoms?
From birth! But I consider 21 to be when I got sick and never got better.
How did you go about seeking a diagnosis?
A woman at church pulled me aside one week and said I appeared to have hypermobility. I had never heard of connective tissue diseases, so we met for coffee, and she explained how my story of constant joint dislocations and chronic pain had an answer in EDS. A year later I was referred to an EDS genetic specialist who diagnosed me with hEDS and pointed me in the direction of receiving all my other diagnoses.
How long did it take for you to receive a diagnosis?
It really depends on when you consider I “got sick”. I would say my lived experience didn’t make sense until 2020 after actively seeking answers for three years.
How did you feel when you received your diagnosis?
I immediately cried tears of relief. A diagnosis wasn’t a death sentence. It was finally being seen as a whole person by a medical professional.
How did you communicate your diagnosis with your loved ones?
I spent a long time with friends and family explaining my conditions. The most challenging conversations were with my mom. Since EDS and CVID are often inherited and difficult to diagnosis, I didn’t want her to think I blamed her in any way. She was doing the best she could with the information she had.
What treatments have you undergone and how have they impacted you?
This is a tough question. Most of my treatments have been symptom management. I take upwards of 30 pills/sprays/infusions/injections per day. I have also had over 30 surgeries to treat issues caused by EDS. I have weekly IVIG infusions which wipe me out for two days. My whole life is wrapped up in when the next treatment is.
"Bravery isn't about one moment; it's about finding courage from the start and carrying it forward in every action we take."
What is the most difficult part of your treatment, and how do you manage it?
The most difficult part of my treatment plan is how I cannot budge from the plan. My entire life revolves around keeping me alive. Traveling is 10x as difficult as before and I struggle to participate with friends or church events due to the treatment schedule. I used to be much more adventurous. Always traveling or making spontaneous plans. That kind of life simply isn’t possible anymore.
What has been the most challenging aspect of living with your condition?
Probably the risk of getting a serious infection. CVID means I am missing a part of my immune system and get sick very easily. I have already survived sepsis once, and the question is not if I will be septic again, but when. One mistake and my life is on the line. That’s a lot to live with and ask others to be mindful of.
How has your daily life and routine been affected by your condition?
My entire life revolves around being sick. Every part of my day is planned out by medication reminders and doctor's appointments.
How has your condition affected your mental health and emotional well-being?
I have always had depression, but it really ramped up when the pandemic hit. I was so scared of making myself sicker that I didn’t leave my house for weeks at a time. My mental health has improved since then, but I still struggle with cPTSD from medical trauma.
What strategies have you found helpful for managing your emotions and thoughts?
Therapy! I am lucky to be working with my dream therapist. She has seen me through being undiagnosed to now. 5 years of ups and downs. She is the best. Other than therapy, I try to stay creative. I have taught myself to embroider, quilt, sew, and bake. Creating beauty is a perfect way for me to see the good in my situation.
How has your diagnosis impacted your relationships with your friends and family?
My husband is probably the most affected by my illnesses. He is my main caregiver and sole financial provider for our family. We both had to put our dreams aside to take care of my stubborn body.
What support systems have been helpful during your health journey?
My friends, my church, my family, and online support communities.
What advice would you give to someone who has recently been diagnosed with your condition?
Take a deep breath. You are seen now. Every emotion you feel is valid. Take everything you have and fight for what you know you need. The squeaky wheel gets the grease.
What advice would you give to your past self if you had the opportunity to go back in time?
Your pain is real and allows others to help you. Even healthy, you cannot do it all.
How can others be more supportive and understanding of people with your condition?
Always invite us even if we can’t make it to the event. We need grace and flexibility.
If you are interested in Ehlers-Danlos Syndrome, please check out this page from the National Institutes of Health or the Ehlers-Danlos Society.
Click here to find scientific articles on Ehlers-Danlos Syndrome.
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Disclaimer: Please be aware that the content of this patient story is solely the viewpoint of the individual(s) involved and should not be considered as medical advice.
