Hope - Rare Disease Day

This past weekend we went to San Antonio for The Atypical HUS Foundation conference. It's always such a good time. Seeing those that have become family. Seeing those that KNOW what we go through. Knowing that we are not alone.

Since we have been home, I have been thinking about where I was 2 years ago in this journey called Atypical HUS.

I thought I would share my thoughts and feelings for others. What better day to do this than on International Rare Disease Day?!

Two years ago, I was fairly new in my diagnosis of aHUS still. I was diagnosed Sept/Oct of 2014. That first year was HARD. There were a lot of changes. Life saving meds were administered. I was literally fighting for my life.

After learning what I could from the very limited information on this disease, I was overwhelmed and hopeless. I told those closest to me that I would not be alive in 5 years. Whether it be the disease taking me or me taking my own life after tiring from fighting the disease.

At that time, it was the truth in my mind. I had no hope.

In the late fall of 2015, Ben and I attended a luncheon put on by Alexion (the pharma company that makes my life-saving drug, Soliris). We heard a patient story, we learned a ton from the doctor that spoke, we met others that are in the same journey as us. WE FOUND OUR HOPE!

I knew at that time that with the support of those with this disease, the information that we could find by going to these conferences, the people we would meet...that I would survive this. I had found my hope.

Since that first luncheon we attended...I have been to and spoken at so many conferences. I have shared my story in hopes of helping others get through the rough patch and grieving stages of a rare disease diagnosis.

Without these conferences and people to share this journey with, I was honestly lost. I was staring a life threatening disease right in the face. It's a very scary journey to be on with rare disease.
There aren't many people who have the disease or understand what you are going through.

But the people at these conferences, these people get it! They are currently living it as well!

There is hope out there. There are researchers working to find treatments and cures for this awful disease. We are one of the few rare diseases that actually has a treatment. We have each other. I have made some incredible friends that are now family. I have hopefully helped others somehow along the way.

We met several people this past weekend that were very recently diagnosed with aHUS. You can always tell how overwhelmed people are with this disease. It's so much to take in.

To those new patients, and even the experienced patients, please don't give up.

Please reach out to those that you trust. Reach out to those that are experiencing it as well. Hang in there. We are a team, a family. A family...that will fight together and love you through each set back and step forward. We are here!

What's the difference?

I have had several people talk to me about my health lately and have said "I can't believe Crohn's gave you aHUS"....or "I can't believe you had to get your thyroid removed due to aHUS." 

The above are not the case AT ALL. So I wanted to take a few minutes to tell you the differences in these and my health history with the 3 of them. 

Let me first start this by saying, ALL THREE DISEASES ARE DIFFERENT!

Crohn's Disease - diagnosed 2012. 

https://www.nlm.nih.gov/medlineplus/crohnsdisease.html

Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. Crohn's can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum.

When I was diagnosed with Crohn's Disease, I had been ignoring it for a very long time. It wasn't until I had bleeding for more than a week before I contacted a GI and ended up at the ER. 

Because of this, I had a lot of scar tissue in the small intestine, which caused narrowing in the intestine. I got MANY obstructions.

In 2013, I underwent a lower right colectomy. This basically means they removed about 18 inches of my small intestine, my ileocecal valve, my appendix, and a few inches of my large intestine. 

I do still have some issues with my Crohn's, but for the most part....I follow the diet I know works for me and I keep up with my symptoms and see my GI regularly.

This is something that has no cure. 

Grave's Disease (autoimmune hyper thyroidism) - diagnosed 2013.

https://www.nlm.nih.gov/medlineplus/ency/article/000358.htm

Graves disease is the most common cause of hyperthyroidism. It is due to an abnormal immune system response that causes the thyroid gland to produce too much thyroid hormone. Graves disease is most common in women over age 20. But the disorder can occur at any age and can affect men as well.

After having crazy moments (literally), high heart rates, hot flashes, hair loss, drastic weight loss, major swelling on my neck; I went and got checked out. After multiple blood tests, it was confirmed that I had Grave's Disease. 

For 2 years, I tried the medications. I failed the medications. My Grave's was not treatable with medication. So June 2015, I had a total thyroidectomy. Since, I am on medication because I now have no thyroid to produce the hormones needed.

atypical Hemolytic Uremic Syndrome (aHUS) - diagnosed October 2014.

http://www.ncbi.nlm.nih.gov/books/NBK1367/

Atypical hemolytic uremic syndrome (aHUS) is a rare syndrome of hemolysis, thrombocytopenia, and renal insufficiency. Genetic mutations in the alternate pathway of complement are well recognized as the cause in more than 60% of patients affected by this thrombotic microangiopathy.

September 2014, I was on a medication for Crohn's (a low dose chemo drug) and had liver failure from it. Because of this, it triggered the genetic mutation I didn't know I had, called aHUS. This put me in kidney failure. Caused my platelets to crash. Blood counts dropped, etc. 

I currently get treatment for aHUS every 10 days via IV. This is something that has no cure. 


So, please take note that while there are some similarities in my diseases, they are not causing each other. They are all very different and are treated very differently. 

What she said was exactly what I needed to hear today.

Every time it is time for an infusion, I get a "this f*cking sucks! why is this my life?" attitude. I hate going, I hate the side effects, I hate getting an IV in my chest, I hate the unknown of the disease, I hate the unknown of the drug. I hate everything about this disease and what comes with it.

Now, I know you are thinking, this is going to be a "woe is me" post. You're wrong. :)

Yes, I have crappy stuff that happens with atypical HUS. Yes, I have a non-curable, extremely rare disease. Yes, I was in multi organ failure 8 months ago. Yes, I will have to get treatment at max every 14 days to keep me alive, for the rest of my life. Yes, it sucks. 

I won't lie about those parts.

But what I would like to talk about today is the support groups, the people you meet (in person and via the internet). The people that help you see that you are not alone.

Now, I do have other diseases and I have friends with the same. I'm on support groups for those 2 as well. They are so very helpful and understanding. And I've made some amazing friendships through them.

However, this time, I am discussing the people I have met since being diagnosed with atypical hemolytic uremic syndrome. 

Like I said above, I am normally pretty irritated and down when infusion time comes around.

I get my infusions at an oncologist/hematologist's office. They have an infusion room in the back that has about 8-10 recliners where people are getting pumped full of IV drugs. Some people that have crazy, serious side effects. Some are people that are dying. Some are people that are very, very sad. There are the angry people. There are the VERY happy people.

The happy people are who I try to always sit near. Since getting treatment anywhere from every 7 to 14 days for the last 7 months, I have gotten to know a lot of the "regulars" there. Most of the people have cancer and are there for chemotherapy that will make them very ill.

I have seen people have bad reactions to the drugs, people vomit, etc. This type of place isn't for the light hearted. 

But today, I noticed something different. I started talking to another regular there. We have met many times and always have a few laughs together. She is completely bald. And has had cancer for THREE years. She's been through almost every type of chemo there is. 

She is positive. She makes jokes about her cancer, her treatment, her side effects, the fact that she is bald and she makes people laugh. She more than once has stood up and walked over to someone else (while she is hooked up to an IV and pushing an IV pole), just to give them a high five; rub their back when the nausea comes on; just to tell them they will be ok.

Today, after one of the above happened, she was talking another patient through treatment. was telling her just to breath. To picture happy thoughts. To pray, even if outloud. I've seen her pray over them.

Once she got back to her seat, I asked her, "how do you do this?" "how do you not bust out crying with these people?" "how do you stay strong when you are going through so much?"

Her answer was shocking to me, "you learn more in these type of settings than you will learn from most doctors. You learn that there are others to lean on when you need it. Those that get what you are going through. Those that you pick up while they are down, are the ones that will pick you up when you need it. You have to try to stay positive or these diseases will kill you VERY quickly. The power of prayer and the power of positiveness is the only thing that has gotten me through this for so long. So now I get my treatment and I support others."

I got teary eyed and just said "thank you". What she said was exactly what I needed to hear today. I simply could not do these treatments without my support group. 

Hope this helps others too. 

My health story September 2014 to current

I have shared this story on two different websites now, so I thought I would share it here. It is on Beautiful Beyond The Pain and on the Atypical HUS website.

I would like to share my story and to keep record so that I can reference it in the future if need be.

Please ask any questions you may have. This has been a VERY scary time for myself and my family.

My health story September 2014 to current

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

Sunday, Sept 6^th, I knew something wasn’t right. So off to the ER we went. After waiting forever to see a doctor. 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. So I figured I would check with my GI and make an appt soon. This was at a small ER that I thought I could trust, but not the one my specialists were at. Just closer to home.

Monday and Tuesday of that week, I was getting worse and assumed that I had a stomach virus because I was now vomiting as well as now having bloody noses and worse headaches than before.

I worked through it on Monday and Tuesday. Wednesday, there was no way I could even get out of bed. So I called in sick to work on Wednesday and Thursday. Thursday, Ben made me go to the ER were my specialists are. He knew something was bad wrong, but we weren’t sure what.

We get to the ER, I am projectile vomiting in the room. Blood pressure and heart rate shooting through the roof. Nose bleeding and the headaches were so bad that I could barely breathe through them.

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 and does it on a stat. She also asks to see the lab work from the other ER. This is where the problem comes in. The previous ER only ordered simple, basic lab work even though they were advised I was on chemotherapy medicine. I needed the extensive blood work.

Back to Plano Presby. The doctor is pacing and waiting for the lab work. She is already working on admitting me, as she knows something is bad wrong. This is about where 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. It was bad. I was in acute liver and kidney failure. My platelets were low. My blood counts were all low. Extreme migraines. Something bad was wrong. Something very bad. I was near death many times during these 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), I have 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, it’s not good. There are clots in my kidneys. It is immediately determined that I must be treated for TTP, or Thrombotic thrombocytopenic purpura. 

http://www.nhlbi.nih.gov/health/health-topics/topics/ttp/

This is a rare blood disorder that causes small blood clots in various organs in the body. The testing is very extensive and requires 14-21 days for confirmation. We didn’t have time for that. If TTP isn’t treated immediately, it will kill you. That night, Sept 19, 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. It was a bit traumatizing.

The next morning, Saturday Sept 20 at about 4am, I started treatment for TTP. The treatment for TTP is plasmaphoresis, or plasma exchange. Basically, this is where your blood is pulled out of your body, filtered, and your plasma is spun out as it is bad. As this is done, they spin donor plasma that is clean back into your body. So out with your bad plasma and in with new donor plasma. This transfusion process takes 4-6 hours to complete and is done through the central line in the neck.

I did this process every day for 5 days. My platelets started coming back up, I was still getting blood transfusions, but things were starting to look up. My liver and kidney functions were improving. I was feeling a million times better.

Sept 25, it was determined by all specialists that I was ok to go home and to check in for blood work several times a week with all specialists. I was doing ok. I was on new meds. I was relaxing at home. And checking in with my doctors for multiple appointments. I was going to make it!

This is where things take a spin!!! Nothing is normal with my body. Just when they think things are figured out, my body does a tail spin and puts all the specialists in shock again.

Friday, October 10, I was feeling weird again. I had gotten my lab work back that day and my platelets had totally 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. He had already been educated on TTP and was told to get me in a room ASAP. So that he did. 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. The kicker? My tests came back negative for TTP. We were back to square one.

I was in the hospital until Sunday, October 12^th, then released to go home and rest. Not do anything except go to specialist appointments.

Hold onto your pants! This is where the spin starts!

Wednesday, October 15, I go to an appointment with my mom at the hematologist/oncology office. I had a bad feeling about the appointment. You see, Dr Le and I had not seen eye to eye many times and we had rubbed each other the wrong way more than once. She is very abrasive and we all know that I don’t do abrasive well.

This appointment, she came in the room and I could immediately tell she was different.

She 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.

http://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome

So, she got together with her specialists buddies at a conference that Tuesday before my appt and presented my case to them. She wanted to know what they thought. It was a unanimous vote between them that I more than likely have aHUS.

Atypical HUS is scary stuff. It’s not for the light hearted to read, for sure. My hematologist had never diagnosed it before, nor had her mentors. There are only 300ish cases in the USA with the diagnosis. Most people with aHUS go undiagnosed because it is so rare and they die from end stage renal disease.  I got blood drawn for the genetic testing for aHUS on Thursday, October 16.

Because I have been in/out of hospitals, doctor’s offices, etc…..I have no veins left. They are all blown and not useful. It was taking 3-10 tries to get a vein for an IV or even a blood draw.

On Thursday, October 23, I underwent surgery to have a medi port installed in my chest. This will give them one shot access for IVs and blood draws.

On Friday, October 24, the genetic testing was returned. I tested positive for Atypical HUS. We needed to get the ball rolling on treatment, ASAP.

Atypical HUS is a genetic mutation. I have had this my whole life. Currently we believe that the trigger factor that brought it out was the chemotherapy drug that I was taking for another illness I have called Crohn’s Disease. My body just couldn’t handle the medication and this triggered the aHUS to come to surface.

There is no cure for aHUS. There is currently only one treatment for it. It is IV infusions once a week for 5-6 weeks, and then every other week indefinitely. This drug is called Soliris. It’s pretty new to aHUS, so the side effects aren’t well known.

On Monday, October 27, I got vaccinated for Meningitis, Pneumonia, and Tetanus. I also started very strong antibiotics to protect me so that I could start the treatment before the vaccines fully activate.

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

While I would like to be very hopeful (and I am trying to be), the rare-ness of this disease frightens the hell out of me. The new drug is scary. Not knowing side effects are scary. Not knowing what my future holds for this disease is scary.

This is my story to present date.

 PLEASE DO NOT SHARE MY STORY WITHOUT MY AUTHORIZATION. I DON'T MIND IF IT IS SHARED, I WOULD JUST LIKE TO TRACK IT AND BE NOTIFIED AND TAGGED IN IT.