STORIES OF (H)OPE, (L)EGACY, AND (H)EROES
Alright, friends. Today I am writing an important post, focusing on a subject that I view with great passion. I have been sick for nearly ten years, facing rare diseases that in many ways have taken a lot away from me. But despite all that, I have been abundantly blessed, as my faith has matured in unique and meaningful ways, and I have formed friendships with some truly remarkable people. Additionally I have gained perspective and knowledge about my baffling illnesses that I would have greatly valued at the outset of this crazy journey.
So I have this itch for outreach, for raising awareness in order to help others who suddenly find themselves in a cataclysmic situation full of long scary words, painful needle pokes, yucky hospital smells, and blinding white lights. I hope to raise awareness so that together in conjunction with the endeavors of so many others, we can move toward conquering these rare illnesses that have taken way too much from far too many.
Many of these diseases already have a week or a month devoted to awareness that can help give my efforts some structure, but because of the unpredictability of my life, it has proven to be impossible for me to synchronize my watch to that schedule! September was a month full of awareness opportunities for many issues I care about from mitochondrial disease, to invisible illnesses, to HLH. However this past September, as well as October for that matter, was also a wildly hectic time in my life from a medical standpoint! I intend to bring attention to each of these causes in due time… But it won’t all happen today. I’m just going to have to improvise the schedule a bit. Capeesh? It is what it is!
CAN WE REALLY MAKE A DIFFERENCE? YOU BET WE CAN!!!
It is probably both safe and sad to say that most all of us have been affected by cancer in some way, whether we have battled it ourselves or have supported a loved one through their illness. Last month I came across bunches of gold awareness ribbons bringing attention to the important fact that September is Childhood Cancer Awareness Month. This most honorable cause has increased funds for valuable research, helping to optimize cancer treatments.
Now, if you could stretch your memory way back to September, how many ROYAL BLUE ribbons do you recall seeing?
I’m supposing for most of you the answer is zero. But guess what! September also happens to be Histiocytosis Awareness Month. Did no one tell you? As a Hemophagocytic Lymphohistiocytosis (HLH) patient myself, I’m here to fill you in as to why those aforementioned blue ribbons are so special to me. Your crash course in the importance of being “Histio aware” begins right now!
WHY IS IT SO IMPORTANT TO RAISE AWARENESS ABOUT HLH?
Survival rates for many types of cancer have drastically improved, an amazing accomplishment that has progressed with the help of awareness foundations and the research that they financially support.
Sadly not nearly so much progress has been made for HLH. To be clear, I am thrilled to see the exceptional improvement in cancer care. But when I take all of this into consideration, this thought weighs on my mind: What could increased awareness and the consequential boost of research do to improve the future for HLH patients?
Sufferers of rare diseases are confronted with a unique set of challenges because they are thought to be too “few” in numbers. HLH is considered to be an “orphan disease”, meaning it doesn’t affect enough people to generate government-funded research or awareness programs, and there is no financial incentive to grab the attention of large research companies, because there is no profit to be made on such a small scale.
THIS IS WHAT IT COMES DOWN TO…
Awareness doesn’t happen on its own. We need to give a shout and let our voices be heard! Since HLH doesn’t receive much help from outside sources, progress relies solely on the outreach efforts of patients (That’s me!) and those who love and support them (That’s you!). Awareness leads to research, which in turn leads to improved treatments and protocols – which has the prospect of saving many precious lives.
MOST PEOPLE DON’T EVEN KNOW WHAT HLH IS!
And it’s difficult to spread awareness of HLH if you don’t have facts. Not to worry, I’ve got you covered!
HLH is the gem of an acronym for a tongue twister of a disease called Hemophagocytic Lymphohistiocytosis, a rare life-threatening disease of the immune system.
Currently it is thought that there are two types of HLH, primary and secondary. Primary (also called familial) HLH is caused by a genetic mutation. Secondary HLH is an acquired form of the disease often associated with autoimmune disease, viruses (particularly Epstein-Barr), infections, and malignancies. Although genetic testing is available, it can be quite challenging to differentiate between the two forms of HLH. A negative test result is inconclusive, leaving a significant percentage of primary HLH patients with a yet-to-be-identified gene defect. Some researchers believe that it is likely that all HLH is genetic in nature, but it will take more research for the mutations responsible to be determined.
HLH is characterized by a highly stimulated but ineffective immune system. This results in elevated cytokines, which are molecules that, in normal quantities, regulate the immune system. But this overproduction of cytokines causes a poorly controlled activation of too many white blood cells such as lymphocytes and macrophages. This process is called hypercytokinemia, or a cytokine storm. A cytokine storm has the potential to be very harmful to all vital organs and body tissues. These dramatically elevated cytokine levels trigger Hemophagocytosis, which is the abnormal consumption of blood cells by macrophages, causing the patient to have low blood counts. If there is time to perform a bone marrow biopsy, the finding of Hemophagocytosis in the bone marrow can be helpful to confirm a diagnosis of HLH.
Common symptoms of HLH include prolonged high fevers, cytopenia (low blood counts), liver and spleen dysfunction and enlargement, swollen lymph nodes, elevated inflammation markers (most notably ferritin), pain, and fatigue.
Treatment of HLH typically includes a combination of chemotherapy, immunotherapy, and high dose steroids. If HLH persists or recurs, which is oftentimes the case, the patient will require a bone marrow transplant.
Okay, I suppose I should probably give a short, straightforward explanation. HLH is an oftentimes fatal disease of the immune system. It can present suddenly, and it’s scary how quickly it can escalate. It is rare, but even more so it is simply rarely diagnosed. In other words, patients with HLH are being misdiagnosed. And this is one important reason why we need to raise awareness.
THE LACK OF HLH AWARENESS IS HIGHLY DANGEROUS!
Awareness is a great form of education. It is exceedingly crucial for the medical community to become better informed about HLH. Way too many doctors haven’t even heard of it! It’s a sad reality, but rare diseases don’t receive much attention in med school.
Because of this dangerous lack of knowledge regarding HLH among medical professionals, it is an all-too-prevalent occurrence that very sick people with HLH are sent home from hospital emergency rooms after being misdiagnosed with a typical virus. You see, the initial signs of HLH are easily mistaken for symptoms of ordinary viruses and bacterial infections, so it is essential for doctors to be knowledgable of and alert to the earmarks of HLH.
An early diagnosis is a key factor in treating HLH successfully; but it is not a bit uncommon for patients to be in critical condition before receiving the appropriate diagnosis of HLH… And sadly this diagnosis is oftentimes given too late for survival.
MY OWN “ALMOST” HLH MISDIAGNOSIS
In the past I have briefly alluded to the nightmares I have endured at the hands of ignorant doctors. A most haunting debacle took place during my first major HLH flare.
I found myself 1,000 miles from home in an unfamiliar hospital with raging fevers, pancytopenia, and elevated liver enzymes. The medical team’s primary conjecture was that I was experiencing sepsis as a result of a central line infection, despite the fact that cultures were continually returning with no sign of infection.
Now we know in hindsight that I was exhibiting a classic presentation of HLH. But at the time, of course, my family and I had never heard of such a disease, so we hadn’t the slightest idea what was wrong with me. The major problem, however, came into play due to the fact that the attending physician didn’t have a clue what was going on, either.
My condition was steadily declining, with fevers consistently hovering at the 105 degree mark, rendering me too weak to even sit up in bed. So you can imagine that my parents and I were entirely stunned and appalled when ten days into this ordeal the attending doc walked into my room, ready to release me since I was clear of infection.
Which leads me to my next point…
PATIENTS NEED A DEDICATED ADVOCATE.
During that hospital stay this spunky girl couldn’t even muster enough oomph to tell that crazy and cruel doctor just what I thought of his ludicrous plan to release me from the hospital when I was in such a poor state. And I can assure you, I have been known to share my, er, conflicting opinions regarding my medical care, sometimes to a fault.
Just like anyone else, doctors deserve our respect… But when they disrespect their patient, someone needs to speak up. When face-to-face with Dr. Despicable my parents were by no means impudent, but they firmly insisted that I would be going nowhere while in that condition.
Thankfully I had my Mama Bear by my side practically every moment throughout that hospitalization. Although I had been experiencing unexplained low blood counts for quite some time, beyond that we knew very little about hematology. But my ever-attentive mama had overheard a resident mention that my blood counts were dropping, though at that time she had no idea how substantial that dip had been. In an effort to reveal any answers that might help me, my mom requested that a hematologist be consulted. Well, that oh-so-charming attending doc smugly retorted, “She’s been to doctors all over this country, what good do you think that will do?”
But Mama Bear won, and after further debate, the attending all too grudgingly sent in a pediatric hematologist. I clearly remember this wonderful hematologist sitting at my bedside and gently telling me that she believed that I had something called “Hemophagocytic Lymphohistiocytosis”. Just hearing those two words was pretty intimidating, even before I learned what this terrible disease entailed. Now I can’t be sure, but this compassionate doctor might have been an angel. At any rate she was an angel to me, as she most certainly saved my life that day.
Anyone with an ounce of common sense could tell you that a patient with a prolonged fever of 105, along with plummeting blood counts, skyrocketing liver enzymes, and off-the-charts inflammation markers is in no condition to be anywhere but in the hospital. So why would that attending physician be so eager to release me? One can only wonder, but I am fairly certain that he wanted to ship me out of that hospital pronto because he was afraid that I just might die on his watch.
It is really very scary to think what would have happened if my parents had not been such strong advocates for me. All patients need to stand up for their rights; or if they are in a situation where they are unable to do this themselves, they should have a loved one to act as their advocate. It’s something I wouldn’t have believed until I was in such a situation myself, but sadly there are some doctors who are more concerned with saving face than saving lives.
So if you have an uneasy feeling that you or your loved one haven’t received a proper diagnosis, don’t simply dismiss that intuition. Insist upon further investigation. After all, it is your right.
OUR LEADERS IN RESEARCH & TREATMENT
Considering that HLH is thought to be so rare, it may come as a surprise that there is a wonderful treatment center for HLH patients at Cincinnati Children’s Hospital. Dr. Lisa Filipovich is the director of the program at the HLH Center of Excellence. No one in the Western Hemisphere knows HLH the way Dr. Filipovich and her team do. Patients travel from all over the world seeking their expertise; being seen by this team can very well make the difference between life and death. The Histio community is incredibly blessed by these doctors who have devoted their careers to researching and treating HLH.
FACES OF HLH
The majority of HLH patients are children, but it can affect people of any age, big kids like me included. We aren’t just a bunch of statistics, which is something that could be easily forgotten when viewing all of the percentages, pie charts, and scientific jargon that explain our complicated illness. Really I couldn’t possibly expect you to remember all that I have written here today. I mean, even pronouncing the words “Hemophagocytic Lymphohistiocytosis” is a bit daunting on its own. But HLH warriors are very real people fighting very real, tangible, and fierce battles! So I believe that the best way to raise awareness is by showing you a few of the many faces of HLH. These inspirational people and their families are held close in my prayers and in my heart. I just know you will find them to be so very special, too.
This beautiful little girl was diagnosed with HLH and underwent a bone marrow transplant in 2011. While a BMT can be a life-saving intervention, for many patients, including Mira, it comes along with extreme complications. When Mira experienced highly life-threatening problems following her BMT, the doctors told her parents that she had a 5% chance of survival. But God undoubtedly had a “Mira”-cle planned! As I read through past entries on Mira’s CaringBridge page, I am left in awe of the incredible challenges she has overcome. Mira’s happy outcome brings hope to me and so many others who are fighting HLH.
This first video is a short news feature from 2011, filmed a day before Mira traveled to Cincinnati for her BMT. It’s very informative, and can give you a glimpse of how HLH can impact a person’s life.
While Mira was recovering from her BMT her siblings were homeschooled in order to avoid bringing unwanted germs into their home that could make Mira very sick. This second video was filmed earlier this fall when Mira and her siblings finally began attending school once again! I have to redirect you to another website to view this new video. The progress that this darling little girl has made is truly miraculous, so click here to check it out!
It makes my heart smile seeing Mira bouncing around, playing like any other child. I can imagine that spunky little sweetheart saying, “Take that, HLH!” Mira is a real superstar in my eyes!
Brody was born on April 4, 2008. He was fun-loving, eager to please, and, as you can clearly see in his photo, exceptionally adorable. Among other things, he loved Barney, Thomas the Train, going to Home Depot with his daddy, and the Oregon Ducks.
In February 2010 Brody suddenly became gravely ill, with his only symptom leading up to this being a viral infection that he just could not shake. He was diagnosed with Epstein Barr Virus (EBV)-driven HLH. Brody began a protocol of chemotherapy and high-dose steroids, while his mom, Tracy, began her unrelenting search for more information. This complicated quest for answers led them to the National Institute of Health (NIH) where they discovered that the underlying cause behind Brody’s HLH was a rare primary immune deficiency called Systemic EBV-positive T-cell Lymphoproliferative Disease of Early Childhood. A bone marrow transplant was thought to be his only hope for a cure. When Brody’s immune system was being wiped out to prepare him for transplant, an overwhelming EBV viral load attacked his liver and ultimately resulted in multi-organ failure. Three-year-old Brody passed away less than a week before his scheduled transplant.
Brody’s mom once told my mom that if love alone could have saved him, he would have lived forever… And it was the depth of this love that made Brody the sweet, giving little guy that he was. So it is very fitting that Brody’s love and giving continue on through The Brody Borlaug Foundation, established by his parents, Jeff and Tracy. They have partnered with Doernbechner Children’s Hospital to originate a Pediatric Immunology Program in the Portland, Oregon, area. Brody’s foundation will help to provide proper and early diagnosis and close-to-home, state-of-the-art immunological services. Many HLH families spend a year or more away from home to undergo treatment in Cincinnati. Tracy was nearly seven months pregnant when Brody became sick, so she fully understands the importance of having such a center close to home.
It’s incredible when families fight through a loved one’s devastating illness only to go on to passionately help others facing a similar battle. The Borlaug family exhibits amazing kindness and empathy as they give their all to support others in a tremendous way.
This is Lacey having fun with one of her horses just a few short weeks ago.
I never had the privilege to know Lacey personally, but I wish I had. A few days ago I somehow stumbled upon a lovely photo of a girl and her horse; as a horse lover myself I was drawn to the photo, and continued on to read this girl’s story.
Lacey was a phenomenal equestrienne, and she spent nearly all of her free time at the stables riding horses. Recently she came down with mononucleosis (mono), caused by the Epstein Barr virus, and never seemed to fully recover. Earlier this month she had to be rushed to the emergency room when she became critically ill. In Lacey’s case, EBV had activated HLH. Her illness was so aggressive that she passed away just a couple of days later.
This tragic story poignantly illustrates that anyone, in any stage of life can develop HLH. Lacey was an active 16-year-old girl who seemed perfectly healthy. While most people can fight off viruses such as mono and return to a normal life, others go on to present with HLH.
I am so very sad for Lacey’s family and friends who surely miss her dearly. She was a truly remarkable young lady. During her far too short lifetime Lacey showcased her talent with videos and photographs, leaving a positive influence on so many lives with her vibrant personality.
NOAH & LIAM
You could imagine I was taken aback when upon reading a newspaper article about Noah I discovered that he and his family lived not even half a mile away from me.
Noah was a happy, smiley little guy. He enjoyed playing with Legos, toy trucks, and the game “Angry Birds”… He even had an Angry Birds birthday cake while he was undergoing treatment in Cincinnati! Noah was also an awesome big brother. His family absolutely adored him, and in an effort to keep the whole family together through Noah’s illness, Mom, Dad, and little brother Eli all relocated to Cincinnati to support him while he was in the hospital for his bone marrow transplant.
Sweet Noah valiantly endured a ten-month struggle with HLH, but he didn’t survive the complications of the transplant aimed at saving his life, and was instead taken up to heaven.
While still in Cincinnati the family learned that Jenny was pregnant with their third child, an incredible blessing to be sure. But this brave and beautiful family also discovered that they would be facing the frightening challenges of HLH yet again when genetic testing revealed that this precious baby carried two known mutations linked to the disease.
Pictured in this photo are parents Jenny and Jim, along with adorable Eli, who is thankfully healthy.
And this past April, they welcomed a darling little baby, Liam, into the world! Jim had been deployed overseas serving our country, so unfortunately he had to join the welcoming celebration from afar.
Soon after turning six months old Liam underwent a bone marrow transplant at Cardinal Glennon Children’s Hospital in St. Louis in hopes of eradicating his HLH. It was in the hospital, just a few days post transplant, that Daddy and Liam finally met for the first time. Liam remains in the hospital as his little body fights to stay healthy, allowing his new immune system to take hold and grow. Don’t let that sweet baby face fool you… Liam is quite a tough guy, and he is doing an incredible job of fighting this disease!
Over the past year I have come to greatly admire this remarkable family. They have been an example of grace, strength, and kindness as they have relied on their faith in Christ through such overwhelming trials. Please keep them in your prayers as they courageously fight HLH once again!
SO WHO WANTS TO BE A HERO?!
Now that I have introduced you to a few Histio superheroes, I have some exciting news for you… You can be a hero, too!
Please consider joining the bone marrow registry. People commonly think that patients usually find a suitable donor within their own family, but this only happens about 25-30% of the time. The procedure to donate bone marrow is typically very easy, requiring almost no recovery.
Giving blood is an excellent way to help, too! This not only saves the lives of HLH patients, but also those of cancer patients, accident victims, and many others. Just one single donation has the potential to save up to three lives!
And there is a simple yet effective way that you can help us right now… You can spread awareness just by telling others about HLH. Please feel free to share this blog post, or any of the inspirational stories I have relayed here! Remember, since HLH isn’t widely known even among medical professionals, parents and grandparents, friends and neighbors, absolutely ANYONE has the potential to save a life by simply being Histio aware.
HLH is considered to be a rare disease, but even so, it has drastically derailed the lives of far too many families. A very meaningful bond is oftentimes built among those of us who are affected by this ruthless disease; and thanks to modern technology, a lot of us have been able to connect in online communities where we can encourage and comfort one another throughout the unique difficulties we all endure. I thank the Lord for blessing me by bringing these incredible people into my life; truly they are most treasured friends.
“Therefore encourage one another and build each other up, just as in fact you are doing.”
- 1 Thessalonians 5:11
But of course Christ is our ultimate hero, and all hope is found in Him. Remember these stories of hope, legacy, and heroes, and please say a prayer for all of the brave Histio heroes out there… After all, prayer is surely the most powerful way to make a difference!
“And this is the confidence which we have before Him, that, if we ask anything according to His will, He hears us.”
- 1 John 5:14