Getting My First Rare Disease Diagnosis (Video Series)

Getting My First Rare Disease Diagnosis (Video Series)

Welcome to the first of many posts related to Patient Worthy’s Video Series!

We had the pleasure of interviewing PW contributor Kathryn Ferguson, a mother and a wife, who has been diagnosed with three different rare diseases. Here, she chronicles how she was able to obtain that first ever rare disease diagnosis, Cold Urticaria.

 

“So my first diagnosis was Cold Urticaria. I realized I had Cold Urticaria probably six weeks after my daughter was born. She was born in early January and it was an unusually warm day in the DC area in February, and I was with my two year old son outside. I had my daughter in a baby bjorn up against my chest.

And I’m watching my two year old driving his truck around and I’m talking to two of my girlfriends whose kids are out playing in the grass with us, and about ten minutes after I was outside, one of my girlfriends said,

“Oh my gosh Kathryn! You look like you have sunburn on your face. Your face has gotten so red!”

“My entire face had turned beat red as if I had been burned by the sun. I said,

I“you know what, I think I should probably go inside, maybe I’m colder than I realize.”

“So I went inside and started to not feel well and that’s what was happening as my skin was warming up from being outside in the chillier weather, my face kind of got puffy. That was the first experience I had with Cold Urticaria and we didn’t know what it was.

The next time [I had an episode], I started having circulation problems in my hands and… for a long time doctors thought that I had Raynaud’s syndrome… and it has to do with your vessels not getting the blood to the right places. But mine was becoming more severe than Raynaud’s, but that’s not to say that Raynaud’s isn’t serious, but for me it was manifesting a little differently..

“…my hand would be outside and I wouldn’t have mittens on, and my hand would have doubled in size and was itching so severely that it felt like I had been stung by a swarm of bees. and then I would notice that…the swelling would spread up my arm.”

“And so another time I was out and about having a Starbucks and in a short skirt and I placed the cup on the top of my leg, and in under a minute I had a ring mark swollen from where the cup had left a hive on my leg.”

“Over the course of a year I had a number of incidents like that and I was finally just diagnosed with Cold Urticaria. The way that I was tested for Cold Urticaria was in a doctor’s office in which they slid the sleeve up my arm and they put an ice cube straight out of the freezer on my arm. And when they [did that], in under 30 seconds, they removed it because it was so painful; it felt like it was on fire and there was a done-shaped hive that took up my arm from the exposure to the ice cube. And …as it got bigger [and bigger], probably the length of my forearm, I started coughing and wheezing, and my heart felt funny. I thought I was going to faint and I felt really dizzy. And I just wasn’t myself; the cough got worse and worse until I realized that I was going into anaphylaxis and that’s when I was diagnosed with Cold Urticaria. And through those experiences, I was sent to John’s Hopkins and eventually into the NIH where I was given a positive diagnosis for Cold Urticaria.”

Editor’s Note:

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Kathryn is an incredible public speaker and loves to share her story, “Everyone has a problem in their life, some are small, some peoples’ are big, mine is chronic disease. It’s helped me define who I want to be and where I want to go; how to get over the tough patches in my daily life. The tools I’ve used, someone else can use.”

Check out Kathryn’s blog, and keep an eye out for more about Kathryn on Patient Worthy!


Jessica Gladwell

Jessica Gladwell is one of PW's consultants and patient editors. She has lived with late-stage, chronic Lyme and POTS since circa 2002. She has also served as a caregiver to close family members with late-stage, chronic Lyme. Before diagnosis, she served as a business consultant for a large corporation and PM for a small digital branding agency. Now, she is proactive in the rare and neurological disease community, spreading awareness and advising on matters of health and lifestyle when living with a chronic illness.

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