This month for the Sava Wellness Community interview series we talk with Tori (she/her) from USA. Tori speaks about her experience with a rare disease, HsAN. When this interview was posted, it was February which is Rare Disease Month to bring awareness to rare disease, which according to the World Health Organization is a disease that affects fewer than 65 in 100,000 people. To help with this month you can advocate for people with rare disease to have a voice and their story heard, but you can also donate for research to be done. You will read below that Tori helps advocate with the HsAN Foundation, and at the end of the article you can visit the website to learn more about how to be a rare disease ally. Additionally, you can follow @chronicloveclub on Instagram as they posted the entire month about Rare Disease Month and different rare diseases.

Hello Tori! It is great to talk with you today. Could you please tell us a little about yourself?

I live in Minnesota, USA. I like to do puzzles and listen to Elvis Presley and Jeremy Camp. My mom has been really excellent in caregiving and assisting in my healthcare. I spread awareness about ostomies and my condition, I’m a guest speaker at my former high school to juniors and seniors in a CNA class, and I’ve been working with HsAN foundation to promote the foundation. The HsAN Foundation was founded to spread awareness and fund gene therapy research for those affected and find a cure/treatment for HsAN. There are only 300 people worldwide living with HsAN.

Do you have a diagnosis for your symptoms? If you have a diagnosis, can you tell us what it is and describe what that means for you? 

I have HsAN and that means I need to watch out for injuries as I don’t feel pain, I need to be in a temperature controlled environment 24/7, I have to keep an eye on the weather, and more. HsAN stands for Hereditary Sensory and Autonomic Neuropathy aka Congenital Insensitivity to Pain with Anhidrosis. I can’t feel pain or temperature, can’t sweat, have hydration issues, can’t regulate my body temperature and more due to HsAN. It’s usually caused by the NTRK1 gene mutation but some don’t have a known gene and mine was caused in utero. I do have a genetic mutation of uncertain significance/SPG11 and it causes autism, intellectual disability, and peripheral neuropathy. I need to be in a temperature controlled environment because I can’t sweat and I overheat easily. When it’s cold my skin gets pale and blue-like and it’s hard to warm up. When it’s hot my skin gets flushed, I get tired, pass out, itchy, and more. I don’t do well with heaters either as they can make me overheat too, so I have to have the heaters on low. I have the temp on 71ºF during the day and 66ºF at night. 

Does having a diagnosis help you? 

Yes it does.

How long did it take for you to get a diagnosis? 

19 years.

When did you first realize that you had chronic illness and how has your journey been since then? 

When I was younger I knew I could never feel pain and I never have been able to sweat either or feel temperature. My journey has been uphill and downhill since then as I had a 6 year health decline when I turned 18. I have needed to get 3 medical devices to help me live and function; an ileostomy, urostomy, and an implanted port. My autonomic issues have worsened since age 18 (bladder and bowel issues worsened, hydration worsened, overheating, malnutrition, slow transit constipation, borderline gastroparesis, pelvic floor dysfunction, prone to a lot of injuries and infections, and more). My overheating issues worsened around age 16. 

How has your experiences of the world changed since your symptoms started? 

I have never known any other kind of life. My medical challenges have brought me closer to God. I can now advocate for others with ostomies and HsAN. I get different opportunities now. I’m a double ostomate as a result of complications of my HsAN. I had a neurogenic bladder, small bladder capacity of 100mL, urinary incontinence without sensory awareness (have never felt when I needed to go to the bathroom, never toilet trained and always went on a timed schedule), slow transit constipation, borderline gastroparesis, and pelvic floor dysfunction. 

Which of your symptoms do you find the most debilitating and why? 

Not being able to feel pain and not being able to sweat because I always need to be on the lookout for injuries, be extra careful, never know what’s wrong, and I always have to keep an eye on the temperature as I don’t feel it and I can’t regulate my body temperature either. Not being able to sweat causes difficulties because I can’t cool myself off naturally so I use a neck fan and an ice vest when needed. I stay in a temperature controlled environment 24/7 which helps to regulate my body temperature. Since I don’t sweat I can’t regulate my body temperature. I have sweat glands but they don’t function and I got the lowest percent on the Mayo Clinic thermoregulatory sweat test that they’d ever seen.

Can you describe what a bad day symptom-wise looks like to you? 

Overheating, not getting my fluids after a certain amount of time which for me means I can’t walk or talk, very sleepy, not aware or present, an infection, a bad injury that was discovered too late and more. This is due to my HsAN and is a treatment to manage it. I can’t walk or talk when I don’t get IV hydration because I dehydrate very easily and my symptoms are head pressure, trouble walking, trouble talking, slow moving, not aware or present, tachycardia and wonky vitals.

When you have a good symptom day, what do you like to do? 

Puzzles, watch Netflix, devotional, color, read the bible.

What has been the most helpful for you as you have gone through this journey? 

My faith (I wouldn’t be where I am today without God), my church family who has prayed for me and rejoiced with me, and my wonderful support system.

Thank you Tori! Tori is an advocate for her chronic illnesses on her Instagram page @toris.medical.journey Tori also advocates for the HsAN Foundation, you can visit their website at https://hsaniv.org

Tori’s condition is a great example of how quickly and drastically people’s situations can change when they have chronic illness. In the last month Tori’s condition has got worse. HsAN causes Tori’s immune system to be compromised and it is a degenerative condition. She has three highly resistant central line infections in her port. Her health team has changed her medical plan many times, and her hopes of moving out cannot happen at this time because her medical issues are a full-time job. Tori is trying to do her best with the continuously changing situation.