My Father, Myelofibrosis, and Me

Ashley Gould with her father, Harvey

by Ashley Gould
Vice President Corporate Development & Chief Legal Officer, 23andMe

Linda Avey and Anne Wojcicki created 23andMe based on a number of visions. They described one of these to me in early 2007, capturing my imagination and playing a large role in my decision to become a member of the 23andMe team. This vision was of a web-based, patient-driven method of conducting research that removes physical boundaries and accelerates the search for answers. The company has already made this vision a reality by launching Parkinson’s and Sarcoma Communities with participant data streaming in daily from dedicated surveys.

I am privileged and excited to announce that 23andMe is launching a Myeloproliferative Neoplasms (MPN) Community for patients with polycythemia vera (PV), essential thrombocythemia (ET), myelofibrosis (primary, post-PV and post-ET myelofibrosis), chronic myelogenous leukemia (CML), mastocytosis, and hypereosinophilic syndrome (HES) / related eosinophil disorders. This group of rare blood cancers affects production of blood cells in the bone marrow and has no known cure except for blood or marrow transplantation.

My father, Harvey Gould, is now in his 11th year living with a diagnosis of primary myelofibrosis (PMF), a type of MPN in which the bone marrow makes abnormal blood cells and is replaced by increasing amounts of fibrous scar tissue over time. He is one of a relatively small group of PMF patients in the United States. A study by the Mayo Clinic reported an incidence of 1.46 per 100,000 persons (1), and a prevalence of 30,000 patients nationwide. It’s also likely that some individuals don’t even know they have the disease because only highly trained specialists can diagnose it. The challenging nature of the disease, low incidence rate, and perhaps under-familiarity with the disease may partly explain why significant resources have not been applied towards identifying both inherited and acquired causes of myelofibrosis or towards development of effective therapies for this chronic and debilitating disease.

In 2005, several groups identified a mutation in the gene JAK2, referred to as JAK2 V617F in several MPNs. It is found in approximately 95% of patients with PV, and 50-60% of patients with ET and PMF.  The JAK2 protein is a signaling protein within cells; when JAK2 is mutated, it contributes to increased signaling in cells and abnormal cell proliferation, a hallmark of these blood cancers.  A number of clinical trials are now in progress with JAK inhibitors targeting the JAK2 protein and related signaling abnormalities in cells.  These trials, now mostly in patients with myelofibrosis, are listed at www.clinicaltrials.gov (search term “myelofibrosis” and “JAK2″). These investigational drugs have demonstrated substantial activity shrinking patient spleen size and improving symptoms. These JAK inhibitors have the potential to be the first major class of drugs approved for myelofibrosis. We’re looking to gather valuable information that might be helpful to researchers who are studying these diseases and inspire others to join in.

Ashley and Harvey Gould at Ashley's wedding

I know from following my father’s struggles that treating myelofibrosis is more of an art than a science, even with highly skilled physicians involved. For more than four years, the drug imatinib (Gleevec®) seemed to be helping, and then it simply stopped working. Why did it work at all when it does not work for most myelofibrosis patients? Why did it suddenly stop being effective?

A few years ago, while in Ireland, my father collapsed when his hemoglobin suddenly dropped from 13.4 g/dL (almost normal) to 5.4 g/dL (a crisis level). He received twelve units of blood on seven separate days over the course of three weeks, plus another two units after he was able to return to the States. This spurred my father to write to the Taoiseach (Irish Prime Minister), seeking recognition that he’d become a full-blooded Irishman — his Jewish heritage notwithstanding. (See his letter to the Taoiseach, correspondence from various offices in the Irish government, and the final verdict from the Tanaiste).

While my father’s gift for humor has helped us all cope, we still have many unanswered questions stemming from his experience.  If we knew more about the genetic components of the disease, would researchers be able to find causes and cures? Could doctors better anticipate the progression of the disease? Could doctors better tailor drugs to their patients? Responses to these questions remain unknown for many of the myeloproliferative neoplasms. It’s our search for answers that has lead to the formation of 23andMe’s MPN Community.

We are honored to welcome Drs. Jason Gotlib and James Zehnder from the Stanford University School of Medicine and Stanford Cancer Center, as expert advisors and research collaborators in this effort. Dr. Gotlib brings his experience in clinical hematology and leadership in numerous phase I/II trials of novel therapies for MPNs. Dr. Zehnder, Professor in the Division of Hematology and Department of Pathology, contributes expertise in the realm of MPN molecular diagnostics. Their complementary skill sets will be an asset to the 23andMe program and MPN research efforts.

Watch the video below to learn more about my father’s story and help by joining our research community.

Please note: 23andMe filmed this video when we planned to launch a more narrowly focused Myelofibrosis Community. Based upon valuable input from our scientific advisory team, 23andMe has since decided to expand the scope of our community to include all myeloproliferative neoplasms, including myelofibrosis (primary, post-PV, and post-ET myelofibrosis), polycythemia vera (PV), essential thrombocythemia (ET), CML, mastocytosis, as well as hypereosinophilic syndrome (HES) and related eosinophil disorders.

Our initial goal is to enroll approximately 1,000 patients diagnosed with a spectrum of myeloproliferative neoplasms who consent to participate in our research and who agree to complete surveys about their experiences. Patients will be asked to provide a sample of saliva (kits send to the patient’s address) to test their DNA for potential inherited predispositions to MPNs, and to assess whether the DNA results correlate with certain survey findings.  As our MPN Community page describes in more detail, participants will receive complimentary access to 23andMe’s full Personal Genome Service®. If you are someone who has been diagnosed with a myeloproliferative neoplasm, follow this link to learn more about joining our MPN Research Community and sign up. If you know someone who you think might meet the criteria, please share this information with them.

If you are not a patient with myelofibrosis or other MPN diagnosis, you can still help by becoming a 23andMe customer and opting in to participate in our 23andWe research program. Having genetic information for generally healthy individuals plays an important role in research as well. Everyone has the opportunity to participate and support research that can lead to new treatments and possible cures.

 (1) Mesa R, Silverstein M, Jacobson, Wollan P, Tefferi A.  Population-based incidence and survival figures in essential thrombocythemia and agnogenic myeloid metaplasia: an Olmsted county study, 1976-1995.

Gleevec® is the trademark of Novartis Pharmaceuticals Corporation. 23andMe and Personal Genome Service are trademarks of 23andMe.


  • Maureen Markov

    Admirable work. Please keep us posted on results?

  • John

    My mother and her first cousin both have PV. However, they are located in Maryland. Although you can’t sell kits to this state, will the study still be open to them?

    Thanks!

  • http://delia@swanlegal.com Delia Swan

    I wholeheartedly support your valiant efforts. Keep up the good work!

  • Burton W Ruder

    I have known Harvey Gould for most of my life. We went to school together for many years. He was and is a dear friend.

    He and his family were always role models of what family is all about…loving, caring, and inspirational community members.

    Ashley is to be highly commended for her efforts with 23andMe. The real kudos go to my friend Harvey, who gave birth to her, moulded her, and encouraged her to take special and meaningful paths to help her father and humanity.

    Please let me know how I can help.

    Burton W Ruder

  • Renee Klein

    Dear Ashley,
    I have known your Dad since high school,he has always been a friendly,smart
    and amazing person and still is with his struggle. I had know idea he has been sick for
    so many years. A bunch of us hung around together.
    I have an immune illness myself since 1991,it is chronic fatigue syndrome.
    Nothing like your Dad my friends illness.
    I will volunteer from here,I taught for many years and got sick so my only income is disability so unfortunaly I can not help with money.
    Ashley,I think you take after your Dad,your efforts are incredible.
    Please let me know how I can volunteer.
    Love,Renee Kahn Klein

  • erin duffy

    Ashley, congratulations… This is amazing. I am so proud to know you….being related is a just a huge bonus.

  • http://www.griefprints.com Radha Stern

    I would like to send my hearty congradulations to 23andMe for “daring to be different’ and making a difference. We all need to make the world a better place by taking action and I appreciate what you have done. Thank you!

  • Ashley Gould

    Thank you for all the warm responses. Please continue to help us get the word out about our MPN Research Initiative! Ashley

  • Lisa Logan

    I am a 48 year old wife and mother of 5. I was diagnosed with meylofibrosis 1 week ago. I am in the very early stages and am adjusting to my new life. My symptoms are such that I will not be receiving treatment yet. I have signed up for your research project and am hopeful that progress will be made in my lifetime.
    Thank you for your efforts. It is good to connect with others in similar circumstances.

  • Elizabeth Lynch

    How is the research going? What you are doing is wonderful. My father was diagnosed with Myleodysplastic Anemia back in 1990. With that, he was also diagnosed with agammaglobulinemia. He died in 1993 after his bone marrow became more and more fibrotic, to the point where he produced no red cells at the end. The only treatment at the time was erythropoiten injections, gamma globulin infusions, and multiple blood transfusions. He eventually could only have direct donation because of transfusion reactions. When my Dad died in 1993 his Hgb was only 3. If my 23andme results could help, please use them. My sons, and my Mother heave also been tested. I am confident you are going to find answers that will eventually lead to a cure. I applaud your efforts, and for those effected, hang in there, now there is hope!!!!

    • KimB

      Thank you all for the thoughtful comments and support of our MPN Research Initiative.

      Elizabeth, thank you for your kind words and confidence in our search for answers. I am sorry to hear about the loss of your father after such a short battle. As a quick update on our research progress, we are happy to report that nearly 500 individuals have joined the study so far, bringing us almost halfway to our recruitment goal of 1,000 participants. Since the launch in August 2011, we have released two MPN surveys to gather information about diagnoses, family history, symptoms and complications. In November 2011, Dr. Mesa from the Mayo Clinic joined research collaborators Dr. Gotlib and Dr. Zehnder, both from the Stanford Cancer Institute, as unpaid expert advisors on the MPN Science Advisory Panel. We are excited and honored to be working with these top researchers and clinicians to develop surveys and analyze data provided by study participants. Research is a complex process so it is difficult to predict when we will have results to share, but we will continue to keep people informed of our progress and our findings as we move forward.

  • MarielleL

    Thank you for moving forward in this effort. I was diagnosed with PV and Budd Chiarri 6 months ago…at the age of 26. Obviously younger than many individuals with PV, especially coupled with being a female. The disease attacked my Liver (clots) and with the Budd Chiarri, caused some damage to my venous system. The MPN’s are such a scary group of diseases and it is so frustrating at times because there is not a ton of information out there in lieu of the fact that the population group is so much smaller than many other diseases. I was the girl that took vitamins growing up, applied SPF 50 and worked-out on a regular basis. Now I am taking multiple blood thinners, lasix and on capsule chemo daily, what a turn of events :). I truly hope that through your study you are able to find our more information about this frightening illness.

    As always, sending positive thoughts out to anyone affected by this.
    -Marielle

  • John Q Graham

    I have been diagnosised with Myelofibrosis just recently, and will travel to the Mayo clinic in scottsdale, az. next week to meet with Dr.Mesa.. I will let you know what his suggestion for treatment is when I return. thanks for your blog, it will be most helpful I am sure to share with others having this bone marrow disease.
    John Graham.

    • Dennis alo

      John q. Graham

      I’m Dennis alo from cebu city, Philippines. I was diagnosed with MF since march 2009. I hope you can share what dr. Mesa is saying since I can’t afford to visit his clinic in Arizona. Hope you can proviide me your phone number so we can talk.

      Thank you and best regards,

      Dennis Alo

      • ScottH

        Dennis, Perhaps you could contact one of the many advocacy groups for MPN and MF. There are several. You might try emailing MPN Advocacy and Education International. Here’s a link to the organization. We are not affiliated with the group.

  • Amy Stewart

    My mother was diagnosed with Myelofibrosis just over three years ago and has been a patient of Dr. Tefferi at the Mayo Clinic. She is doing well considering. News came recently that my father has now been diagnosed with Myelofibrosis. We are all in shock. What are the chances of this happening? We will be visiting the same doctor soon in hopes that my mother’s treatment will also work for my father (if even available). If you still need new patients to join the research, we would be interested.

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