When Sarah Williams Maxwell was 18 months old, she was diagnosed with type 1 diabetes (T1D). Outside of managing this condition, Sarah was relatively healthy until 2014, when her diagnostic journey began. Over an 8-year period, Sarah’s health declined, leading to dual diagnoses of Addison’s disease and Stiff-person syndrome (SPS).

Despite these challenges, Sarah has built herself a beautiful life with her husband of sixteen years, Jonathan, and their son, whom the couple adopted at nine months old. Though Sarah received her Bachelor’s degree in history, she carved out a career path in an arena she is passionate about: horses. She shares:

“I’ve been riding since I was five. When my parents gave me the choice of getting a car or a horse for my 16th birthday, it was an easy choice! My initial plan after receiving my degree was to go to grad school. Life had other plans and I ended up back in the horse world, certified as a riding instructor.  When my husband and I bought our property, we wanted to create a safe place for others, and I think we’ve succeeded. I run my own small lesson program, teaching in the hunter/jumper and dressage disciplines. Some riders compete on our local show circuit, and some come for the simple enjoyment of the horse.” 

While her dual diagnoses have sometimes made it difficult to pursue this career, Sarah remains resilient and continues to persevere.

Recently, Sarah sat down with Patient Worthy to discuss the diagnostic journey, what Addison’s disease and SPS are, the challenges of living with dual diagnoses, and advice for others who are on their own rare disease journey.

2014: The First Diagnosis

When Sarah was transitioning from pediatric to adult care at eighteen years old, her family found an MDVIP endocrinologist to assist with her care. He knew her history and Sarah stayed with him until she and her husband moved to North Carolina for two years. In 2012, they moved back to Alabama. Since Sarah’s health was doing well, they didn’t feel as though they needed access to MDVIP, even though Sarah knew that she’d never find a doctor like him again. Thinking back on it, she reflects:

“Clearly we were wrong. I believe I would have suffered much less throughout the Addison’s disease diagnostic process if I had been working with him.” 

In 2014, Sarah started experiencing some significant health issues. She felt weak, clumsy, and constantly fatigued. The endocrinologist that she was seeing at the time offered no assistance. Sarah frequently found herself visiting every local emergency room begging for help. But the emergency room doctors often just told her that she was dehydrated; they would send her home with fluids without fully addressing her concerns. Sarah shares:

“I knew that something was wrong with me, but nobody would listen. My husband is my strongest advocate. He was just as active as I was in trying to figure out what was going on.” 

Sarah’s condition continued to worsen. On the week that she was finally diagnosed, her husband had broken his leg and was sleeping in the recliner; Sarah’s mother-in-law was watching their son and a friend was watching the animals. Sarah was exhausted and ill, spending the entire week in bed. She explains:

“I didn’t brush my teeth, shower, eat, or drink that entire week. I KNEW I was dying. I knew that my husband would come hobbling to the bedroom and find me dead. It’s a strange feeling knowing that your time is up. I made peace with the fact that our son would at least have his dad and our families to raise him.” 

Receiving Help

In a desperate last attempt for help, Sarah reached out to her old endocrinologist over Facebook Messenger. She sent him a list of her symptoms and a plea for any assistance he could provide in what she was going through. His response? “You have Addison’s disease. Go to the emergency room now.” 

Thankfully, this same day, Sarah’s mother-in-law dropped by for a surprise visit. When she came to the bedroom to see Sarah, her mother-in-law was in shock. Sarah was weak and lethargic. Areas of her skin were so dark that it looked like she had been digging in black soil and hadn’t washed up. Her mother-in-law immediately called Sarah’s mom and said that Sarah needed to go to the emergency room immediately. Says Sarah:

“My mom was worried that I would get blown off again, but she rushed to my house, making phone calls along the way, and then rushed me to St. Vincent’s in Birmingham, Alabama. On the way to the office, she was on the phone getting me set back up with MDVIP and my endocrinologist. I was admitted to the hospital with a diagnosis of adrenal crisis. He told me that if my mom had not rushed to get me help, I would have been dead within 8-12 hours. He saved my life and I will always consider him as part of my family. ” 

That very same day, Sarah was diagnosed with Addison’s disease.

What is Addison’s Disease?

Also known as primary adrenal insufficiency, Addison’s disease occurs when the body does not produce enough cortisol or aldosterone, hormones produced by the adrenal glands. Cortisol plays a role in nutrient flow, the regulation of blood sugar and inflammation in the body, and other bodily functions. Sarah explains:

“Since my body does not produce cortisol, being in stressful situations can be very dangerous for me.” 

An estimated 100-150 people out of every 1 million has Addison’s disease. It is more common in women than men, and more common in people between the ages of 30-50 years old. Addison’s disease is typically developed due to an autoimmune response in which the body creates antibodies that attack and damage the adrenal glands. Less common causes include surgical adrenal gland removal, CMV virus, cancer, and chronic infections.

Symptoms of Addison’s disease can, but do not always, include:

• Fatigue
• Weakness and general malaise
• Low blood pressure
• Appetite loss
• Muscle and joint pain
• Unintended weight loss
• Skin darkening due to lack of cortisol
• Craving for salty foods
• Nausea and vomiting
• Fainting
• Irritability or depression

In Sarah’s case, she shares that her symptoms include weight loss, extreme fatigue and weakness, skin darkening, and having blackouts or fainting. Treatment options vary. Sarah shares:

“I am on a daily dose of hydrocortisone and fludrocortisone, as well as Solu-Cortef infusions at home every other week. The infusions have made a huge difference in my ACTH numbers and had me feeling really great until SPS came along. Some people take prednisone and some take dexamethasone, but my doctor prefers hydrocortisone because it more closely mimics natural cortisol.”

Join us in Part 2 as we discuss Sarah’s Stiff Person Syndrome (SPS) diagnosis, what SPS is, the challenges of living with two rare conditions, and advice for others on their journey.