Ten Years and Four Diagnoses Later, Patient Gets Her Life Back

When Rachel was a kid and telling stories about all the blood draws leaving scars on her arms, she realized this wasn’t the childhood experience most other kids had. They fell out of trees and scraped their knees but didn’t usually endure years of being sick.

For almost 10 years, Rachel suffered from headaches, nausea, and dehydration. Sometimes she would just experience sensory overload with her family around, and have to tell them — “Okay, everyone has to be quiet now.”

Rachel had been bounced from institution to institution, doctor to doctor, before a specialist here at Stanford Health Care took an active role in her care.  Dr. Linda Nguyen, a gastroenterologist and hepatologist, began assessing her GI issues but had heard enough about cerebrospinal fluid leaks that she thought this could be the problem. Interestingly enough,  Stanford’s Dr. Ian Carroll, headache specialist and orofacial pain specialist, had just reached out to Dr. Nguyen sharing information about how some cerebrospinal leaks were characterized by chronic, intractable nausea, in addition to ringing in the ears, vomiting, and headache. Dr. Carroll had collaborated with Stanford's Headache Program to create the Stanford Cerebrospinal Fluid (CSF) Leak Program — and immediately took an active interest in Rachel’s case.

At 24 and married, Rachel was on her fourth diagnosis and had been on headache medication for years when she met Dr. Carroll. 

Recalls Rachel, “I don't think I'll ever forget doing the first diagnostic test where he just had me lie flat. It was really the first time my headache had ever gone away, and it was a huge aha moment for me.”

Rachel believes that had it not been for Dr. Carroll, she would not have been diagnosed so quickly.

When Rachel first got the CSF leak diagnosis, she was hospitalized since she was having trouble getting out of bed. To treat the cerebrospinal fluid leak, Dr. Carroll performed what is called an epidural blood patch during which the patient’s own blood is injected around the bag of fluid that surrounds the spinal cord. This creates a seal and a scar over the part where the bag is torn. This helps the fluid stop leaking and can restore normal balance and normal pressure of the cerebrospinal fluid.

After her first blood patch, Rachel got substantially better, and Dr. Carroll was confident they were on the right path: “We want multiple dimensions across her life to be better so she can return to function, and do the things a young woman wants to do with her life instead of being engaged in the medical system on a semi-continuous basis.”

Dr. Carroll believes that cerebrospinal fluid leaks are often misdiagnosed, and more common than previously thought. He speaks from personal experience: his daughter had a cerebrospinal fluid leak that had gone undiagnosed for far too long until she got the right treatment. That’s when he really began to think about the interplay of different syndromes and symptoms, and how important it was for a major academic medical center like Stanford to collaborate across departments.

Most at risk are those with Marfan and Ehlers-Danlos Syndromes, both connective tissue disorders. Orthostatic headache, or headache that is worse when upright, is a key feature of a CSF leak, but is also a common feature in patients with postural orthostatic tachycardia syndrome (POTS).

“Patients shouldn't have to wander from doctor to doctor until they randomly interact with a doctor who happens to know that people with Marfan are at greater risk of developing a leak. After the personal experience I had with it, I started reaching out to the Stanford Headache Clinic, and the POTS and Marfan Clinics. Now we’re all reading about it and it has created a great dialogue,” explains Dr. Carroll. “There is a place in our society for a group of doctors who want to see the most difficult cases, that want to spend their time reading about those cases and trying to develop new treatments for those cases, and that place is Stanford.”

Dr. Carroll admits he gets invested in his patient’s wellbeing and says it helps him unlock his own internal resources and the institutional resources at Stanford.

Rachel had to laugh when Dr. Carroll insisted she watch three videos and read a paper about her procedure before he would even talk to her. But in the end, his advice was right: “He involved me a lot and kept me updated, which I really, really appreciated!”

Explains Rachel, “This blood patching thing, from a nerdy, scientific perspective, I think is so fascinating. I love it.”

Two procedures later, Rachel’s headaches aren’t as common and the sensory overload feelings are subsiding. Best of all, her music-loving family “loves it” when she says this:    “Listening to music as loud as I want has been nice!”