When It Wasn’t Crohns or TTP: How Much More Rare Could It Be?

Six months after my husband Ben and I were married, I was diagnosed with Crohn’s Disease. Way to test out that whole “in sickness and in health” thing, right?

I’m 37-years-old now and we’ve been married just over four years. My story feels a little complicated. I know Crohns isn’t a rare disease—so stick with me. Crohn’s Disease is an autoimmune disease where my body attacks its own intestines.
I did many rounds if different immuno suppressing medications to try to get the Crohn’s under control, but in August 2013, it was determined that the scarring was just too bad and I would need surgery to remove the damaged areas.

I ended up having about 18 inches of small intestine, several inches of large intestine, and my appendix removed. Once I got through the recovery period, I felt pretty good. I was then placed on a low dose chemo drug that is commonly used for Crohns patients. This was to keep my immune system suppressed so that it would not begin attacking the intestines again.
This chemo drug was working great for me – until it wasn’t.
In September 2014, I started feeling ill. Like I had a stomach flu maybe. I was having nosebleeds, vomiting, extreme migraines, etc. On Thursday, Sept 11, my husband came home and said, “get dressed, you haven’t eaten or even turned on a light in 5 days now, we are going to the ER.”
I was pretty well known at this particular ER so the doctor recognized me right away and told me that I appeared to be having liver issues, as I was very yellow. She started lab work, got nausea meds in me, and gave me pain meds for the migraine. She put a rush on the lab work. As it came back, it showed that I was in liver and kidney failure and my blood counts were very low. I was immediately admitted to the hospital.
Then, I literally was unconscious for a week. During this time, they ran every test they could think to run on me. Everything kept coming back negative. The following Thursday, they drained the outside of my left lung, did a kidney biopsy, and a bone marrow biopsy. I had about 6 or 7 blood transfusions during that week.

That Friday, my world went into a tail spin. The kidney biopsy came back with clots. I was given a tentative diagnosis of TTP (TTP causes blood clots form in small blood vessels throughout the body). The only “treatment” for TTP is plasmapheresis. The surgical team was called into my room that evening…and I had a central line surgically placed in my neck immediately. I was awake for this. My husband was also in the room.
At 3am on Saturday morning, I started plasmapheresis. This process is LONG. It normally took about 4-5 hours, and I would get about 25 to 30 bags a day of donor plasma, for 5 days.
By the end of the 5th day, I felt great! I was actually released the next day from the hospital and told to see my treating hematologist weekly. The first week or so, I was on top of the world. I felt fabulous. Then, I didn’t. So it was back to the ER.

As I got back the ER, the kidney specialist met me at the door. The testing for TTP had come back negative. So we were starting over again with trying to find a diagnosis. I spent the weekend in the hospital for observation and was released to go home on strict orders to do nothing, except attend Dr appts.

The following week, I had an appt with the hematologist and just had an overall bad feeling about the appt. The hematologist said she had not slept in days and had been racking her brain trying to figure out what could be going on with me. Then in the middle of the night, it came to her. She had learned about a disease very briefly during medical school. So, just to be sure, she called an emergency meeting with the hematology board the following day. She presented my case to the board. It was a unanimous agreement that I more than likely had atypical Hemolytic Uremic Syndrome.
Atypical HUS causes abnormal blood clots to form in organs throughout the body, but primarily in the kidneys. This is caused from a genetic mutation that I was born with. This disease is considered an ultra rare disease as there are only about 500 confirmed cases in the United States. It is currently believed that a mild chemo drug I was on for Crohn’s was my trigger.
I agreed to do genetic testing that day. I got all the required vaccinations for treatment for aHUS, and got a power port installed in my chest later that week. There is currently only one treatment available for aHUS. It is a drug that is called Soliris. As of now, it is rated the most expensive drug in the world. I am currently receiving IV infusions of this drug every 10 days.This is a lifelong drug for me.
While it has been a tough time the last 1.5 years, I have been able to remain working full time. I speak when I can for the aHUS Foundation, I enjoy life to the fullest I can.
aHUS does NOT define me. Please know there is hope out there!