“I spent those nights in the hospital not sleeping, pacing the floors in the middle of the night and sitting on the edge of his bed staring at him while he slept and cried, because no one knew what was wrong with my little boy and I didn’t know how to fix him.” – Anne Bruns
For Anne and her family, life was about to change forever when Ethan, their 8 ½ year old son was complaining of a stomach ache in January of 2013. Initially, it was thought that Ethan had caught a flu bug that simply needed to run its course, but it was a day later when Anne began to think something else might be wrong. Two and a half weeks later, they would get their answer.
We recently spent time with Anne to hear her story. And it was during this time that she so graciously gave us a glimpse of not only what life is now like for her and her family, but how this journey has affected her as a mom, advocate, and caregiver.
When did you begin to think there was something more happening?
January 2013, Ethan was 8 ½ yrs. old when he complained of a stomach ache but still went to school. He later threw up and came home with what I thought was the stomach flu as he couldn’t keep anything down for 2 days. On the second night, I thought something more might be going when he said that his urine was red when he used the bathroom before bed. At this point, he was still acting normal, no fever or pain and nothing in the bathroom for me to confirm the color of his urine. After talking to a nurse over the phone, I put him to bed and got up early the next morning to take him to his pediatrician- the thought was that it was probably dehydration from not keeping anything down. When I went to wake him up I began to get nervous and afraid. He had severe jaundice- yellow everywhere and could barely keep his head up, let alone stand up. At the pediatrician’s office, I helped him in the bathroom to get a sample and when I saw the cup fill with urine the color of Cherry Coke, I felt like I had been punched in the gut and I knew right then this was not the stomach flu. We were sent straight to Primary Children’s Hospital in Salt Lake City where the ER staff was waiting for us. It was the longest 60-minute drive, my head was spinning with fear.
How long did it take to get a diagnosis? As a mom, what was that time period like, in waiting?
It took two and half weeks to diagnose him with Atypical HUS. He was admitted to the hospital with 5% kidney function and had daily dialysis and blood transfusions. The waiting was exhausting and stressful. In the beginning, they were thinking he had standard HUS which is caused by E. coli, usually easy to treat and patients go home after a short stay and rarely have complications. That 2 ½ weeks were filled with questions about family history of cancer, pediatric cancer, possible kidney transplants and so many other diseases- I was numb. I actually was really hoping it was E. coli-based HUS- he could be treated and go home. I spent those nights in the hospital not sleeping, pacing the floors in the middle of the night and sitting on the edge of his bed staring at him while he slept and cried because no one knew what was wrong with my little boy, and I didn’t know how to fix him. This was not a mom fix of a band aid and a kiss on the owie. This was beyond my control and anything I could imagine, and I was overwhelmed with despair, fear and anxiety. When he was officially diagnosed, I was devastated it wasn’t E. coli based but relieved that there was an answer and a plan to immediately start treatment. I began to feel some sense of understanding of what we were up against and confident in his team to attack this disease hard.
What is aHUS?
Atypical Hemolytic Uremic Syndrome (Atypical HUS or aHUS) is an ultra-rare life-threatening disease of the complement systemA Moth caused by a genetic mutation. This uncontrolled and excessive activation of the complement system attacks red blood cells, forming clots in blood vessels. These can shut down the kidneys and other vital organs including the heart and brain.
What does this mean for Ethan?
Currently (always hopeful for a cure) this disease will affect him for the rest of his life and that it includes daily medication, infusions every 14 days, doctor visits and all the things that go with managing any type of medical condition. For him it also means being able to have a unique perspective on life and seeing unmet needs of others, their struggles and having a compassion for others and their situations.
Can aHUS be treated? Tell us about the treatment process.
It can be treated and we are lucky to be part of the 5% of rare diseases to have a treatment. Patients are treated with a humanized monoclonal antibody functioning as a terminal complement inhibitor. Treatment is given via IV infusion every 14 days. Current data shows that patients will continue on this treatment for life to manage the disease, but the drug is also being developed to be given every 8 weeks and there are multiple biotechs working on alternative drugs that will act in a similar way. We are extremely fortunate to have so many drugs in the pipeline.
Patients are also treated symptomatically for side effects from the disease. Many patients lose kidney function and require transplants, sometimes more than one. Dialysis and plasma exchange are also treatment options.
What does an average day look like to your family post diagnosis?
An average day is Ethan taking meds morning and night, infusions every 14 days and scheduling every aspect of life around those 14 days. Do my daughters dance classes fall on the same day, do we need to change the schedule to accommodate his after-school activities or an orthodontist appointment? Asking if he feels ok without being a hovering mom, checking that he took his meds and refilling when needed. At this point I feel like our days are as average as someone else’s but now I’m constantly checking the calendar for appointments, ordering and picking up prescriptions, making plans for a babysitter for my girls while at appointments and more. It’s a good thing I like lists and planning- that’s what I do a lot since this diagnosis.
How has this affected you?
Truthfully it depends on the day. Some days I’m extra compassionate and will talk to families all day. Some days I am so motivated that I feel I can conquer the rare disease world and start making plans. Some days I am so exhausted from dealing with all the scheduling, the appointments and the realistic fears and frustrations that my son is sick and I really don’t know what the future holds. Some days I have an incredible amount of hope and some days I lean against the shower wall, sobbing because this has affected so many levels of our family and my son. Some days I feel guilty that my son is “ok and lives a normal life” while my friends are mourning the loss of their child- taken by another rare disease. Some days I wish this diagnosis never happened and other days I am so grateful for the lessons learned and experiences we’ve had because of it. In all, this disease has affected me to be a better person. To see something in the eyes of mothers who are struggling to hold it together, to talk to a biotech leader to help them understand why patient perspective is so crucial and to be able to teach my son and daughters that no matter what life hands us, good things are going to happen. This disease has taught me the true meaning of RESILIENCE and if my children learn nothing else from me- it’s to be resilient in all things.
Ethan has gotten up in front of people and shared about his journey, what was that like to witness?
So many emotions, tears and smiles. I thought, is this my son? He’s more amazing than I could ever dreamed of. It was heartbreaking that he should have to talk about these things and yet it was powerful to see him tell others that no matter their diagnosis- they will be ok. He stood up there in a suit and tie speaking on such a delicate topic but I just kept seeing him as my little boy in footie jammies playing in the sandbox, giggling and playing with trucks. In that moment, I saw him evolve from a child to a young man, and I couldn’t be prouder of the strength he showed.
Through all of this, you have launched a podcast called rare unplugged, tell us about it.
I thought to myself one day- I’m going to do a podcast, googled how to get started and off I went. I’ve led foundations, help create rare organizations, spoken across the country and acted as a consultant to biotechs. I just wanted another platform to be able to talk about rare disease from all angles- specifically in the sense of being real. So often our interviews and speaking engagements are polished and full of clinical jargon. I wanted to be able chat with someone about things other than the disease specifics: how does this affect your routine, what do you hate most about this and chats with us laughing about weird things doctors have said and the crazy things we’ve done for our kids. Stuff that isn’t polished—the everyday side of rare. We mix it up with guest speakers and somehow have managed to talk about football in every episode. I may need to start my own football podcast.
What are 4 things you would want people to know about aHUS?
- It’s life threatening but not life limiting. My son is headed off to Europe this week for 11 days. This disease doesn’t hold him back.
- We have a treatment but not a cure and will continue to research for a cure.
- aHUS can be described as an invisible illness. Just because you may not see the physical effects of the disease, patients are struggling everyday with complications- physical, mental and emotional.
- This disease does not and should not define a patient. It’s something they have, a part of them, but it’s not who they are. They are so much more!
How can people advocate for patients and families with aHUS?
Educate yourself about the disease from reliable sources- not online information. When you are armed with information, you can take that and make a difference whether it is with your government representatives, physicians in your area or even the classmates of your child’s school. Talk about the disease and help lift uneasiness that family and friends may have. They have questions and don’t always know how to ask- help them understand the ins and outs of the disease but also what your patient or family needs. Educated awareness is critical to get information across and form partnerships to bring about real change.
What’s the biggest lesson you have learned about life through this experience?
My son was asked how he deals with his disease and his response was the greatest advice ever- “I just roll with it”. We are not in control of anything but our actions and reactions to what life throws at us. Understanding this and being able to adapt to any situation has been critical in maintaining some sense of well-being throughout all of this. If I’ve learned anything at all – it is so just roll with whatever the day brings and be grateful for each day we are given.
Who Is Anne Bruns?
Anne Bruns is mom, friend (to us here at PSI), and advocate. Her son Ethan is a PSI Complement Mediated Disease Patient. As a former Executive Director of the Atypical HUS Foundation and current community speaker and influencer, she is a thought leader within the rare disease community driven to help companies understand the patient perspective as early as discovery phase. She has created a large network of advocacy key opinion leaders representing a myriad of rare diseases. As a consultant, Anne has been a driver of several projects designed to improve industry and patient collaboration and the quality of patient engagement across the phases of orphan drug clinical development. She is the creator and host of the podcast, Rare Unplugged.
Recently, Patient Services Inc., was honored to have Anne speak at our fifth annual Evening of Hope event in Washington D.C.
Want to learn more about aHUS? Read more here.