The Erdheim-Chester Disease Global Alliance (ECDGA) is proud to announce that nominations are now open for the prestigious Mark Heaney Memorial Award for Awareness. This annual award commemorates the significant contributions of Dr. Mark Heaney, a renowned hematologist at Columbia University, whose dedication profoundly shaped the Alliance from its inception until his passing in 2022.

Dr. Heaney’s unwavering commitment to the ECD community has left an indelible mark, inspiring this award that honors individuals or groups who have demonstrated exceptional commitment to raising awareness of Erdheim-Chester Disease (ECD) and adult Histio-related conditions. The goal of these awareness activities is crucial—they aim to educate physicians and other key figures who can aid in the early and accurate diagnosis of ECD.

The Mark Heaney Memorial Award for Awareness is open to everyone—patients, caregivers, medical professionals, investigators, friends—regardless of nationality or residence. Eligible nominees are those who have undertaken outstanding and effective awareness activities over the past 12 months, targeting medical and health professionals to enhance their understanding and ability to diagnose ECD early.

If you know someone who has been actively involved in such transformative awareness efforts, we encourage you to submit a nomination on their behalf. By recognizing and celebrating these vital contributions, the ECDGA continues to advance its mission to increase awareness and improve outcomes for those affected by this rare disease.

To nominate an individual or group for the Mark Heaney Memorial Award for Awareness, please click the link below to access the nomination form. Help us honor the legacy of Dr. Mark Heaney and the many advocates who follow in his footsteps, dedicated to enlightening the medical community about ECD.

Complete the Nomination Form

Nominations are now open. The recipient of the award will be announced during the upcoming ECDGA Annual Meeting. Join us in celebrating the champions of ECD awareness and their crucial role in changing the landscape of this disease.

A rare disease patient shares her fight to find the solution she desperately needed.

By Hiba Tohmé

My name is Hiba Tohmé, a 45-year-old young woman, mother of a 19-year-old boy. I led a quiet and serene, dynamic, and hard-working life until that famous March 2020; when the world capsized following the pandemic, when a citizen curfew, travel bans, and the wearing of masks became the daily lot of billions of people around the world.

Lebanese by origin, Tunisia by residence, I did not experience the arrival of the coronavirus like other Tunisians, the excessive use of sanitizer gel, or the purchase of masks… I struggled during March and April against a strange illness that overwhelmed me, without being able to name it, despite visits to a large number of doctors of various specialties. I vaguely remember deserted streets, and hospitals that smelled of death; but what I recall most is being eaten away by pain, fever, cold sweats, and above all a feeling of pressing and sometimes latent morbidity that put my life in jeopardy.

No one could answer my insistent questions: when will this ordeal end? What name should be given to this scourge? What will happen to my only son who passed the last year of high school, during this year engraved forever in my memory?

The pain gnawed at me inside and out, my abdomen kept swelling and my health deteriorated day by day with an impressive weight loss: I lost 27 pounds in a single month. Doctors kept ordering me the same tests that suspected tuberculosis. I went in vain from one laboratory to another in the hope of putting a word to this evil that was invading my whole body.

It was towards the end of May 2020, following the recommendation of two internists, Dr. Aissaoui and another renowned Professor Habib Houman, that an exploratory laparoscopy was prescribed on me to take tissue samples (liver and peritoneum) for analysis. This is how we were able to permanently remove the diagnosis of tuberculosis and I benefited from a protocol directed by Professor Houman who guided the analysis laboratories, asking them to dig the trail of histiocytes. Then begins a mad race between laboratories, institutes, and hematologists, leading finally to the diagnosis of ECD with a BRAF V600E mutation. An announcement that provokes in me a succession of emotional states, going from worry and stupor to sadness, and finally l the acceptance of the diagnosis. Acceptance was mixed with an enormous doubt given the atypical profile of my ECD: systemic histiocytosis with peritoneal location accompanied by refractory ascites. It was then that my life changed and took on a new meaning.

It was while browsing the net that I came across Professor Julien Haroche, a specialist in internal medicine at the Pitié-Salpêtrière Hospital in Paris, and that I understood this disease and its effects on my body. This is the disease that had, I think, attacked the serosa (the outer lining of organs and body cavities of the abdomen and chest) since 2016 when I underwent a pericardiectomy with the removal of the pericardium. Unfortunately, the diagnosis had not been made and the origin of my chronic constrictive pericarditis was bequeathed to non-specific causes.

A visit to Professor Haroche confirmed the diagnosis and the prescription of vemurafenib (brand name Zelboraf) were made following the search for the positive BRAF mutation confirmed in Tunisia. This drug doubled my pain, caused my hair to fall out, and without eliminating the ascites, this liquid swelled my peritoneum and which cost me repeated punctures (also known as a paracentesis, or an abdominal tap, a procedure that removes ascites (build-up of fluid) from your abdomen).

My state of health not having improved, and a second laparoscopy was prescribed by Pr. Haroche, revealing the absence of the BRAF V600E mutation with a strong expression of Phospho-Erk. [The vemurafenib previously prescribed is not effective for patients without the BRAF V600E mutation.]

In the meantime, I had the chance to know the ECD Global Alliance through which I was able to correspond at length with their Executive Director Jessica Corkran and Dr. Mohamed G. Atta [ECD Care Center Lead at John’s Hopkins Hospital in Baltimore] who gave me great moral support. Moreover, following all our correspondence, Dr. Atta had me send my biopsies to the United States free of charge, which confirmed the diagnosis.

Cotellic was prescribed to me, a single sample box having been given to me free of charge, and it worked miracles and had completely dried up the ascites. Unfortunately, the excessive cost of this medicine completely paralyzed me and I went for many months without medicine.

Now, I am back on the Cotellic thanks to the support and help of the ECD Global Alliance. I am full of hope and I will never thank Jessica enough for her kindness and her relentlessness. She was able to surround me, understand me, and share with me my fears and my distress.

Despite everything, I always try to see life on the bright side to better get through this tough ordeal, something that was possible for me thanks to the unwavering support of my circle of family and friends. I would also like to particularly thank Pr. Habib Houman for his continuous presence and availability as well as Pr. Julien Haroche for his precious patience and unfailing professionalism.

Thanks to the support of doctors from all over the world, my doubts about this disease have disappeared. Erdheim and Chester are to become my companions and friends and I have to tame them. This is how my power of resilience was heightened and my faith in God was further accentuated. Knowing and understanding everything about what is happening to us allows us to manage our disease as well as possible, especially when it turns out to be extremely rare. Living with a rare disease has impacts on all levels: physical, moral, social, professional… Managing to make any sense of one’s illness enables us to bring back some kind of energy and turn it from an enemy to an ally, by giving meaning to one’s life.

It is vital to accept your illness and never give up by shouting loud and clear that you can cure it. I have become a specialist in this rare disease, unknown to everyone, including the most illustrious doctors.

Erdheim and Chester became two shadows that followed me everywhere and on which I wanted to shed light. I hope this testimony can help advance science and better care for people with Erdheim-Chester disease.

When hope was in short supply, this Erdheim-Chester disease patient found a medical team that went above and beyond, bringing him the hope he needed to gain a life he could embrace.

By Adam Green

In July of 2017, I received a phone call that would change my life.

I’d spent the previous three years bouncing from specialist to specialist; sitting in exam rooms with an unusual constellation of symptoms and abnormal laboratory results while physicians scratched their heads. They’d offer a few thoughts while they scribbled their notes, then they’d shake my hand and refer me to another specialist. Maybe they would be able to give me answers.

Adam meets with a team of doctors working on his treatment plan.

Three years of searching for those answers landed me at the Mayo Clinic in Rochester, Minnesota. The “Miracle in the Cornfield.” A place where people from every country on the globe come looking for answers. And in 2017 it was the Mayo Clinic calling my phone. Finally, they had some answers for me.

I was diagnosed with a rare form of cancer called Erdheim-Chester Disease, or ECD for short. It’s a blood cancer, and while all ECD patients tend to share some common symptoms and manifestations on imaging tests, etc., the severity of the disease can range from relatively benign to life-threatening.

I consider myself lucky for being diagnosed when I was. In 2008, Kathy Brewer established the Erdheim-Chester Disease Global Alliance (ECDGA). She’d lost her husband the year prior after a long battle with illness, and it was only after the autopsy that a diagnosis was made. It was discovered that ECD was the disease he’d been suffering from. ECDGA has not only brought increased awareness of the disease to the medical community, but its support has also led to significant advances in understanding how the disease works and how to treat it.

The team at Mayo Clinic wasted no time in getting me started on treatment. When I wouldn’t respond to one treatment, they would regroup and come up with another approach. Over the course of the next four years Drs. Jithma Abeykoon, Gaurav Goyal, Ronald Go, and Matthew Koster collaborated with physicians and experts, both at Mayo and around the world, in an effort to find a treatment that would work for me. After performing next-generation sequencing on a tissue biopsy, they discovered what they believed to be an activating mutation that could be targeted with chemotherapy. I started this treatment in July of 2021, and I’m happy to report that in April of 2022 I had a complete clinical, and near-complete radiological, response.

I have my life back.

It’s impossible for me to capture with mere words the gratitude and awe I have for the doctors and medical professionals who’ve cared for me since I first became ill — since I had that first twinge of “something isn’t right.”

When I was at my lowest and most afraid, with my symptoms worsening and treatment not working, Dr. Abeykoon looked at me and told me to have “hope” — so I clung to hope. And now I sit here, full of a different kind of hope, one that stretches far into the future, the impossible suddenly possible.

“Miracle in the cornfield,” indeed.

Former sports journalist Joe Lofaro has little memory of Oct. 23, 2015, when his son Daniel loaded him into a car at his Martin, Tennessee, home and said, ‘Come on, Dad, we’re going for a ride.”

The diagnosis of a rare disease is punctuated by the gift of life, from an ECD spouse perspective.