Personal Stories

My name is Amber Schlaht. My husband, Ben, and I live in Grand Prairie, TX area.  Ben and I have been married for 6 years. I am 39 years old. I work full time in the Mortgage Industry. We have no human children, only our kitty, Belle.

Early in September 2014, I started not feeling well. I was tired all the time, dizzy, getting headaches, brain fog, dark urine, and just overall not feeling well. I kept telling myself that I needed to go have blood work done, but I just didn’t make the time.

Sunday, Sept 6, 2014 - I knew something wasn’t right. So off to the ER my husband and I went. I had blood work drawn, got one bag of IV saline and was released with “dehydration” and told my lab work was normal. I asked for a copy of the lab work on the way out. Once I was in the car, I looked over the blood work. It was far from normal.

I went to work on Monday and Tuesday of that week. Wednesday, there was no way I could even get out of bed. So I called in sick to work on Wednesday and Thursday. Thursday evening, Ben made me go to the ER where my specialists were.

We get to the ER, I am projectile vomiting in the room. Blood pressure and heart rate shooting through the roof. Nose bleeding and migraines.

The ER doctor recognizes me from my many visits due to Crohn’s and immediately knows something isn’t right. I am yellow. My skin, my eyes, etc. She orders lab work and heart monitors. She also asks to see the lab work from the other ER. This is where problem number 1 comes in. The previous ER only ordered simple, basic lab work even though they were advised I was on chemotherapy medicine for Crohn’s disease. I needed the extensive blood work to check vital organs, etc.

At this point, the doctor is in panic mode and is working on admitting me while waiting for the lab work. They administer nausea meds and pain meds, I black out and don’t remember anything for 7 days.

The next 7 days, I relive through what Ben, my mom, and other family has shared. I was in acute liver and kidney failure. My platelets were deathly low. My blood counts were all deathly low. Extreme migraines. I was near death many times during these first 7-10 days. I started receiving blood transfusions.

We were later told by multiple doctors, that had Ben not gotten me to the hospital when he did, I would have been dead within 24 hours.

Fast forward to 7 days later (Sept 18, 2014), I had a bone marrow biopsy, kidney biopsy, and draining of the lining of the right lung due to fluid. When the kidney biopsy comes back on day 8, there are clots in my kidneys. It is immediately determined that I must be treated for TTP (Thrombotic thrombocytopenic purpura (TTP) is a rare blood disorder. In TTP, blood clots form in small blood vessels throughout the body. The clots can limit or block the flow of oxygen-rich blood to the body's organs, such as the brain, kidneys, and heart. As a result, serious health problems can develop).

We didn’t have time to wait for confirmation of the testing for TTP. So, that night, Sept 19, 2014, the OR team was called back in and into my room to do an emergency central line in the jugular vein of my neck. I was given a local (lidocaine) and surgery was done while I was awake.

The next morning, Saturday Sept 20, 2014 at about 4am, I started plasmapheresis.  I did plasmapheresis for 5 days.

During this time, I received about 10 bags of donor blood and about 130 bags of donor plasma. These donations were all received through Carter Bloodcare at Texas Health Presbyterian Plano.

After 5 days of plasmapheresis, my platelets started going back up, I was still getting blood transfusions, but things were starting to look up. My liver and kidney functions were improving. September 25, 2014, I was released from the hospital after 2 weeks.

Friday, October 10, I was feeling weird again. I had gotten my lab work back that day and my platelets had crashed. So the renal doctor suggested I meet her at the hospital for direct admit, just in case.

When I got to the ER, the ER doctor was waiting for me at the door. I was admitted. My renal doctor finally comes in and tells me that they had just received the final results for the TTP tests done in September. My tests came back negative for TTP.

I was in the hospital until Sunday, October 12th, then released to go home and rest.

Wednesday, October 15, I go to an appointment with my mom at the hematologist’s office. I had a bad feeling about the appointment. The hematologist sat down and explained that she had been racking her brain since I was in the hospital originally as she wasn’t comfortable with the TTP diagnosis, but she had not been able to pinpoint what was wrong with me. In a sleepless night, it hit her. I needed to be tested for Atypical HUS, or Atypical Hemolytic Uremic Syndrome. My then hematologist got together with her hematology board at a meeting that Tuesday before my appt and presented my case to them. It was a unanimous vote between them that I more than likely have aHUS.

I got blood drawn for the genetic testing for aHUS on Thursday, October 16, 2014.

On Thursday, October 23, 2014, I had surgery to have my Power port installed on the right side of my upper chest.

On Friday, October 24, 2014, the genetic testing was returned. I tested positive for Atypical HUS.

Currently we believe that the trigger factor was the chemotherapy drug that I was taking for Crohn’s Disease.

I was that hematologist’s first diagnosis of atypical HUS. Within a week, she diagnosed another patient with aHUS as well.

On Monday, October 27, 2014, I got vaccinated for Meningitis, Pneumonia, and Tetanus. I started a 2 week round of antibiotics to “cover” me for Meningitis until the vaccine could take effect.

Wednesday, October 29, 2014, I started Soliris treatment for aHUS.

I am currently on 1200mg of Soliris every 14 days and seem to be doing great!

Brooke was about 2 or 3 months old when she started vomiting. It started as random vomiting and then by 6 months of life, she was vomiting her entire meal, every meal, all day long. She began to lose weight. 

In 4 days, she lost over 2 pounds and was down to 11 pounds. 

Her g.i. Doctor was very concerned about her rapid weight loss & got blood work done immediately. 

We had learned that she was in critical condition. 

Brooke was admitted into the hospital immediately into ICU. 

Her red blood cells were destroying themselves- bursting. 

baby brooke 2.jpg

She was severely anemic & high blood pressure in the 180s

She was seen by 30+ doctors with no diagnosis     

5 blood transfusions in 6 days that lead her to cardiac arrest for 18 minutes. 

No one saw it coming. 

Brooke was then intubated & after a week or so, was extubated. 

baby brooke.jpg

She had a severe allergic reaction to a blood pressure medication that caused tongue swelling & was reintubated. 

During the brief time of her not being sedated, she was convulsing & not tracking. 

After a total of 6 weeks in 2 different hospitals, miraculously baby Brooke is here today & doing beautifully.  

 

 

In August of 2015, Austyn was 13 months old when she came down with the stomach flu. After about a week of continuous vomiting and increased lethargy we started getting more concerned and brought her into the ER.

We were told it was just the stomach flu and it would get better with time. A couple days later, she wasn't getting any better and we started noticing tiny little bruises, so we brought her in again and they decided to run some labs. Her hemoglobin was 5.1 and her platelets were down to 87,000 and figured out her red blood cells were shattering. They transferred her to the Children's hospital 3 hours away and thought she either had TTP or HUS. Her platelets continued to drop and got down to 21,000 when they did a blood transfusion, 2 rounds of plasmapheresis, as well as many other tests and procedures. 

Two days after being admitted, they determined she had atypical HUS and the next day she got her first round of Soliris. She spent 7 days in the ICU in critical condition and a total of 11 days in the hospital. She was very fortunate it was caught so quickly because she has no kidney damage and regained 100% kidney function. She has a Soliris infusion every 14 days and after genetic testing they found she has 1 mutation of CFHR3/CFHR1, so results are considered inconclusive. We are very thankful for the miracle drug, Soliris and for The Atypical HUS Foundation for everything they do for our community.

 

My name is Daphne Powell and my story begins fourteen years ago. It was the first week of July 2004, and I was pregnant with my second child, a boy.

I was down to the last week before my scheduled C-section and was at the OB-GYN’s office completing the urine screen that they did at every visit. The doctor said that I was dumping protein and blood in my urine. This concerned me because my mother has IgA Nephropathy that is not hereditary but is familial, and her brother had it as well. I shared this with the OB who said it could just be the baby stress on my body and he said that we would follow-up after my son was born. At my post-partum appointment, I repeated the urine test, and was still dumping protein and blood. Concerned, my OB scheduled me to see a nephrologist.

At my first visit with the nephrologist, he ordered many blood tests and sent me home with a jug for that WONDERFUL 24-hour urine tests. The tests continued to show that I was dumping a profuse amount of protein in my urine and that my blood pressure was slightly elevated. We controlled the blood pressure with Lisinopril and my kidneys appeared to be holding their own, so no further treatment was needed and I was scheduled for follow-up visits. During one of those visits, my nephrologist recommended a kidney biopsy to confirm the suspected diagnosis of IgA Nephropathy. I begged my physician not to order the biopsy unless it was absolutely necessary, as my mother had shared her biopsy horror story with me. In the mid-80s my mother experienced excruciating pain during her biopsy and had to have a second biopsy as they didn’t get enough tissue the first time. I was able to avoid a biopsy for the next eleven years.

For those next eleven years my body and my life were trucking along. I was conquering so many of the goals I had set in my life! I got two associates degrees in the medical field. One was medical assisting and the other was medical billing and coding. I managed three doctors’ offices, I worked from home as a medical coder, I was recruited to teach at a local community college and then at another start-up community college as an assistant dean. My greatest accomplishment during this period, however, was my family. I gave birth to my third child, a daughter, in July of 2006, nearly two years to the date of my son’s birth. That pregnancy was uneventful and I was grateful for that because two weeks after her birth my husband, who is in the Active Reserves for the US Navy (where we met in 1997 and married in 2003) was activated and sent to Kuwait.

All continued to go well until the fall of 2011. I was weak and constantly exhausted. Blood work indicated that I was severely anemic but no one knew why. After an EGD and colonoscopy, the doctors determined that I was not losing blood from the GI tract. Despite taking iron supplements, I continued to be anemic and was sent to a hematologist who ordered a bone marrow biopsy. I would not recommend this for anyone. But I had thought to myself – I am a Navy Vet and mother of three - I could handle this. I have been through worse! I was awake for the procedure. After all was said and done the nurse kindly told me, “the next time you have this done you can be put to sleep.” I am a VERY blunt person and how do I put this nicely…I said, hopefully I won’t have to do this again and I wish you had told me that little tidbit before the procedure! I received a blood transfusion in between all the tests because my hemoglobin had dropped to 7!

After the biopsy we followed up with the hematologist, who told me that I had a blood disorder but he just couldn’t pinpoint which one. He actually suggested that my weakness, fatigue, tachycardia, and blood loss was from depression! I almost fell out of my seat and I actually had to physically restrain my husband from strangling him. He then suggested that I may or may not have myelodysplastic syndrome or MDS. This was around the time that Robin Roberts was in the news with her diagnosis. I was terrified. Needless to say, we went for a second opinion.

We found another hematologist that was my saving grace - an angel in a lab coat. In one appointment he determined that my kidneys were not producing enough EPO to stimulate my bone marrow to make red blood cells. He listened to me! I had suggested this to the first hematologist, but he had just laughed it off. The hematologist started working with me to manage the low blood production and I was able to feel a difference in the level of energy I had and the things that I was now able to do with my then 5,7, and 12, year old.

Things were great for the next year and a half, but in March 2013 I had my gallbladder removed. It apparently didn’t like me, and after all the pain it caused me, I didn’t like it much either. I was traveling every two weeks to get to the doctor’s office that was two hours away so that we could continue to manage the issues with my bone marrow. I had been sick with gallbladder-related issue and as a result, lost my last teaching/mentoring job. I had never been fired from a job, especially one where I gave it 110%. So, in April 2013, I decided to minimize the stress in my life and took a job where I could clock in, do my job, clock out and go home. I only had to worry about myself, and not 20 other employees. Losing that job actually turned out to be a life saver.

Fast forward to 2014…my lady parts decided to give out on me!! Good grief, I was so tired of surgery but I had a hysterectomy and they took everything but my right ovary. Things were going well until January of 2015 when I went to the ER thinking that I had appendicitis. Nope, that wasn’t it. The right ovary that I had begged the gynecologist to remove had twisted on itself. A couple of weeks later I had ANOTHER surgery to remove the

ovary. During that hospital stay my blood pressure was elevated, I had bilateral leg edema and felt awful. As I look back now, this was a sign of things to come. I sought the opinion of a different nephrologist, as my current nephrologist did not have an opinion on the possibility of a new diagnosis.

My blood pressure was out of control, I was swelling severely on my midsection and legs. I felt like crap and nearly passed out on numerous occasions. My nephrologist and I agreed to the kidney biopsy I had avoided eleven years before and he put my fears to rest. Unfortunately, the first attempt was unsuccessful as my platelets and hemoglobin were too low. I went back two weeks later. The biopsy was performed and two days later my nephrologist called me in to the office and said, “I will tell you what you do not have and that is IgA Nephropathy. You do, however, have atypical

Hemolytic Uremic Syndrome and you are the first case I have ever seen.” He had been on the phone all day trying to find a physician for me that had experience with aHUS. Ironically, the hematologist I had been seeing for the past three years had three other patients, post kidney transplant, with aHUS.  Almost eleven years after my first symptom, I finally had a diagnosis!

The next day, I began seeing my hematologist specifically for my aHUS, had some additional bloodwork done, and started on the road to managing my disease. On July 14th, 2015, exactly eleven years after the birth of my second son, I went to the local emergency room with chest pain. I was in multi organ failure, on the brink of death, and for the next two weeks I was clinging to life. I don’t remember much of those two weeks other than what my husband has shared with me. He wasn’t sure how he would be bringing his wife home!  But I have been blessed at every step of my medical journey and was able to leave the hospital with him and not the funeral director.

Within months I had an AV fistula created for dialysis, that I NEVER have had to use!! Thank you, Lord! I am here today because there are physicians, nurse practitioners and healthcare providers that refuse to give up!!