Diagnosis: aHUS (Atypical hemolytic uremic syndrome)

My journey with aHUS began on the amazing day of my life on June 17, 2005 I gave birth to a beautiful 6 lbs 4 oz 21’ long hairy little boy and my life changed. Kage aspirated and had to spend a few extra days in the hospital. (Thank goodness) I went into the nursery to feed him and was shivering in a room that was in the upper 80’s. The nurse checked my temperature and it was 103 for about 30 min. she sent me back to my room to do some blood work. When the results came back my platelets had drooped to a dangerous level. Normal levels are anywhere from 450,000 to 100,000 mine were at 40,000 and continuing to drop. My red blood count was 3.9 ( normal range 4.7-6.1) The Doctors at Castle View Hospital Noted that I was gaining weight rapidly and were concerned that I had Helps syndrome. The treatment for Helps is to push lots of fluids and when your body gets to a cretin point it releases all of the fluids. The problem was that my kidneys had stated shutting down and I was not getting rid of any fluids.

When I was taken by life flight to the University of Utah I had gained 42 lbs in a day and a half I was so swollen that my side and upper arms started to rip. The next week and a half were the hardest and craziest days of my life. A lot of this time I was in and out of coherency weather from the pain or the treatment I remember it different then my family does. I was put on the Labor and Delivery floor for the first day and was so frustrated because people kept coming in to see if I was ready to have my baby. I couldn’t understand why they couldn’t look at my chart and see that I had to leave my sweet little man at a hospital 3 hours away. I couldn’t wrap my head around just how sick that I was I just wanted to get home and be a mom. I was moved around a lot in the first few day at the U of U, they just didn’t know who should be over my treatments there was so much going on. I remember my lungs filling with fluid and blood and coughing up blood and not knowing what to do. I couldn’t breath it was the first time that I though I’m dying. I was moved to ICU and a breathing mask that I was told I would hate. It was amazing I had gone so long without being able to take a good breath that having the air sucked out of my lungs and forced back in was so welcomed. At this same time my Husband and the rest of my family was being told to tell me goodbye that I probably wouldn’t make it threw the night. I didn’t know this until many months later; I knew it was bad I just didn’t know how bad.

I felt like I was hooked up to a machine 24 hours a day 4 hours a day of dialysis to filter my blood because my kidneys had stopped working, 4-6 hours of plasmapheresis to replace plasma that was colleting the red blood cells that were exploding in my body, this treatment was hard because with dialysis they warm the blood up before it is put back in your body. Plasmapheresis they blood it brought to room temp. And put in your body that cold I would have 6-8 blankets hot water bottles on and round me and I would still convulsing because it drops your core temp so much. Every other day blood transfusions to replace the blood my body was no longer making, along with countless Ivy’s trying to help combat my body shutting down.

One of the hardest parts about the first few weeks of my sons life is that his dad and I weren’t there to get him out of the hospital; we didn’t get to see him every day. They brought him up to see us before I was put in ICU and I was so week I could barley even hold him. The doctors had no idea what was going on they though it could be a few different thing including HUS and TTP but the treatment for one made the other stronger and little bits of each of my symptoms fit with what was going on with me but it didn’t. I was a problem child from the state the side effect of one medicine would react total different than it should. It was like my body did the opposite of what they expected it to do. I spend a total a 12 day in the hospital and although we had no idea what happened and if it was over I got to go home with no kidney function, a sluggish liver, a hole in my heart, a foggy brain, and new tubs and bruised from head to toe. The next 7 months were hard I was so week that just lifting my little man was hard and I couldn’t hold him for or take care of my family by my self. I got help from family and friends, I couldn’t drive or stay on my feet for very long, I was going to dialysis for 4 hours a day 4 days a week with a 30 min drive one way to get there I was dependent on others to live my day to day life. The most amazing thing happened when the kidney doctors decide that my kidneys weren’t coming back people lined up to donate one of theirs to me. My older brother was the first person to get tested and was a 4-6 antigen match. I was so blessed  to receive his kidney on Friday January 13, 2006 the transplant was amazing I felt so much better immediately after, I was still weak and unable to do a hole lot but I felt better. I had a few rejection episodes right off the bat with this kidney and would spend the next 3 years trying to keep it from failing. The medicine that you have to take has there own set of struggles from insomnia, hair loss, high blood presser, weight gain, to having no immune system. I caught everything and wouldn’t be able to get ride of forever. My life revolved around the blood work, doctor’s appointment, and kidney biopsies and in October of 2010 I went into complete failure and would go back on dialysis for a second time. Shortly after I would become so sick that when I went in for a monthly check up I was rushed into surgery to remove his donated kidney. And again people lined up to be tested for me it would be harder this time around to find a kidney that was compatible with my antigens.

I spent the next two years in and out of the hospital with one thing or another. I got a fistula and did a few studies trying to figure out what I had and what was going on in my body. At 24 I got bells palsy and spent 5 days in the hospital with sever head aces and working on getting the right side of my body to move. I had to tape my right eye shut because I couldn’t even get it to blink let along get it to shut. I did daily therapy and acupuncture to work my muscles so that my speech and everyday routine was back to normal.

The Friday before Easter 2011 I got a call from the University of Utah Hospital letting me know that my best friend was a match and that we would be doing the transplant in just a few months. I got my second transplant on July 51, 2011 and again the kidney worked right of the bat. It actually worked too well I had to spend 4 extra days in ICU because I was peeing to much and when you haven’t peeded in 2 years it a strange feeling. I was on even more medicine this go round because the higher antibodies and at one point was take 80 pills a day, we joked that you could hear me rattle when I walked.

My next aHUS flair was scary because I waited to long to go get help. At this point in my life I was working full time, going to school full time, assistant coaching a 2A state championship swim team, and being mom and wife. Needless to stay there were a lot on late nights and I though I was just run down like everyone get if they are doing too much. On Halloween my friends noticed that I was really pale and I kept almost passing out. The next morning my husband took me to the U where again my blood was doing crazy things I was checked for cancer and infections and again nothing fit. I was having similar symptoms to leukemia but there were no cancer cells in my blood so I got a few units of blood and when my numbers were at the lower side of normal I was sent home. In February of 2015 I again ended up at the U with low blood count and weakness.  4 days into this hospital stay a Hematology fellow came into my room after reading my chart and ask a few questions and acted a little funny about the answers I was giving her, she was almost excited about them she left and told us she would be back later that day. After talking to a Hematology specialist she explained to us that just that morning she had gone to a aHUS conference and as she was asking me questions I was answering with exactly the same responses as this ultra rare disease everything fit. We would have to do genome sequencing and even then the marker may not show up but there is a medicine to help prevent flair ups. I was so excited and emotional because we might be going in the right direction, we might after 10 years have answers. The doctors new that the genome testing might take sometime to do but with all of the signs pointing to aHUS they wanted to get me on Eculizumab or Soliris as soon as they could.

I have been on some very expensive medication in the last 12 years; like after transplant you have to take an antibiotic that my 15% of is $750.00 but never in all those years has my medicine had to be escorted to my room by the head pharmacist and signed off by two other nurses as well as my self. But at $70,000 a dose I can understand why. I will need to take this medicine for the next 6 weeks once a week and then every 14 days after that for the rest of my life. This miracle drug was just that a miracle but it came with its own set of rules and worries. My body is no longer capable of fighting off meningitis and a simple flu could very well kill me. I was giving 2 meningitis shoots and took the antibiotic to fight it off for 3 months and that might end up being just another day to day medicine. I have had to cut back at work and stay away from people a little more then I would like but I feel better than I have in a long time, I still have days that I worry that I’m having another flare and I have had a few, but I am quick to get to the hospital and we know how to treat it and even though I lost my 2 transplant and am back on dialysis again for a third time I am hopeful that with the Soliris my next kidney will last a long time. There is no more questioning if we are doing the right treatment we know because of the few of us with aHUS I am one of the very few that show the aHUS marker. I am so grateful for the doctors’ that never gave up on me, who fight everyday to find new treatments and diagnosis for our rare community. There might be times where you feel like you’re all alone but you are Not alone, We are strong, we are rare, and we are beautiful.

About the author


Gina began working tirelessly as an advocate for the rare and undiagnosed diseases community several years ago after her and her family moved to Utah. She is the Co-founder and Executive Director of the Rare and Undiagnosed Network (RUN), Chair of Utah Rare, and Utah Ambassador for National Organization on Rare Diseases (NORD).

Gina is currently undiagnosed and the mother of three children with an undiagnosed genetic dysfunction. She is advocating for clinical whole genome sequencing covered by insurance companies and hopes to help rare and undiagnosed families emotionally and financially.

1 Comment

  • Kaylee you are a strong and amazing woman. I am inspired and very blessed to know you. I love you!!

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