Investing In HHT
IMAGINE a world in which HHT is commonly recognized, easily treated and cured within our lifetime. HHT afflicts the lives of more than 1.4 million people worldwide with most unaware that "nosebleeds in the family" can be something much more and potentially life threatening.
The HHT Foundation has developed a five year strategic initiatives plan that will create the building blocks necessary to find a cure for HHT in our lifetime. To make this happen we need $2 million annually for the next five years.
As the only organization in the world solely focused on HHT patients, you can be sure that your investment in the HHT Foundation will go to the highest return initiatives that can improve life of HHT patients today and in future generations.
An Investment in Your Family's Future - Marianne Clancy, Executive Director of the HHT Foundation, recently sat down with an HHT donor family to update them on the progress of a research project they funded. They went on to say “Our investment in HHT has the promise of being one of the best performers in our portfolio. What makes this so interesting is, at first we thought it was charity but seeing the results of the project we realized it was really an investment in our family’s future.” They said their financial advisor was also in favor of them making another investment in HHT. After hearing the rest of their story, we asked if we could share it with our members. They agreed only if we could continue to maintain their anonymity. Click HERE to read their story.
Be a Part of the Solution . . . . DONATE NOW!
SURVEY – HHT and Other Medical Conditions
If you haven't already participated in this survey, please take a few minutes .... your feedback is important !
- COMPLETE SURVEY -
On July 29, 2013, Dr. Claire Shovlin and her team at the Imperial College London launched the 2013 survey on HHT and Other Medical Conditions. Your response has been amazing even in the first week.
Dr. Shovlin and her team will update this graph for you month by month, and you can be part of this whether or not you filled in the survey last year.
Your answers to the 2012 survey have already produced two published papers (on nosebleeds, and on blood thinners), with two further papers submitted for publication. It is incredible how powerful the HHT community is when it works together in this way and we are so impressed. The 2013 survey team will give an update for you in the October newsletter.
Thank you in advance for your participation in this survey!
Claire Shovlin, Amy Elphick, Zarah Kanwal, Nisha Begum and Zhen Xu Cahilog
(The 2013 Imperial HHT Survey Team)
HHT Awareness Touches the Medical Community
On June 23, 2012, the HHT Foundation announced the first-ever HHT Global Awareness Day. It is important that we collaborate with International Patient Groups, clinicians, scientists and patients every day of the year. This June, in celebration of June being HHT Awareness month, several activities have taken place. We have posted many patient activities. Now, we want to highlight a few events taking place in the medical and scientific community.
Related to the first HHT Global Awareness Day, an article was published by Paolo Pierucci et al. entitled "A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study". Orphanet Journal of Rare Diseases 2012 Jun 7;7(1):33 [Epub ahead of print], PMID: 226764972012. The provisional PDF is freely available on the website of Orphanet Journal of Rare Diseases. In this work, a retrospective study carried out in Italy showed that the time elapsing from the very first clinical manifestation to a definite HHT diagnosis spans almost three decades.
A similar study was conducted by Dr. Marie Faughnan et al. in Toronto, Canada. Their findings, which are in the process of being published, showed that the average diagnosis time from first visit to an ENT to a confirmed diagnosis is 13 years whereas the average is 14 years from first emergency room visit to HHT diagnosis.
HHT MEDICAL PRESENTATIONS
We are very excited to announce that presentations related to HHT will be delivered at scientific and medical conferences around the world over the next twelve months. Here are just a few:
The International Society for the Study of Vascular Anomalies (June 16-19, 2012)
Workshop: Vascular Anomolies
European Association for the Study of Liver (June 22-23, 2012)
Vascular Liver Disease
North American Vascular Biology Organization (October 14-18, 2012)
Workshop: Developmental Vascular Biology
Pacific Grove, California
Hemophilia and Thrombosis Research Society (May 2013)
HHT Invited Speaker
10th International HHT Scientific Conference (June 12-15, 2013)
Website will be available shortly
HHT awareness has greatly increased in recent years and is one of the HHT Foundation's primary focuses for the next several years. Through partnerships with professional associations, HHT clinicians and researchers are able to increase medical and scientific awareness. We anticipate that this type of education will help decrease the time delay in HHT diagnosis which will ultimately impact HHT patient care and quality of life.
Niagara Falls Lights for HHT Awareness
On Saturday, June 30th Niagara Falls will be illuminated with Red and Blue lights to celebrate HHT Awareness Month! You can WATCH THE COLORS LIVE from 9:30-9:45pm and 10:30-10:45pm. This website, https://sites.google.com/site/niagarafalls4hhtawareness/, has lots of HHT resources.
Keith Scouten of Niagara Falls, NY organized this activity to raise awareness about HHT in his community. He has received media support with a printed news article in his local paper. In addition, Keith will be at the Niagara Falls on June 30th, along with the Mayor and many supporters, to provide literature to all who pass by.
Keith has suffered from HHT all of his life but only recently has he found knowledgeable physicians and a strong support base through the HHT Foundation Facebook group. Keith shared his story in the most recent Direct Connection newsletter. An excerpt from his story gives you a glimpse into why Keith has organized this HHT Awareness Event.
"It was around this time that my sister told me there were Facebook groups for people with HHT; it was then that the feeling of isolation of having a genetic disorder that the world seems to want to ignore began to dissolve. In these groups, we step beyond the world that is uneducated and unaware of this severe yet treatable disease. I realize now that there are over 2,000 members on the combined groups that are all saying to each other “we understand and we’re here for each other and we will get through this”. Each one of us knows the frustration of looking to care for ourselves and our families only to get shrugs and blank looks. These groups have brought us together as one, with the same mind, to talk to each other, to support each other, to be there for each other, working together for awareness and understanding. It has been said that there is strength in numbers and the HHT Facebook Group members are that strength that sufferers and families of sufferers need. It is a blessing from God that He brought me to these HHT pages and if you spend some time and read the posts you will see there are many members of these groups who feel the same way.
As I was driving home from my visit at an HHT Center of Excellence, I was thinking about how wonderful everyone was at the HHT Center. After years of frustration dealing with medical facilities that simply don’t have any knowledge of HHT, and some even with the attitude that your making something up, it was such a relief and a blessing to deal with a medical facility that knew what I had, knew how it affects me, and knew the special treatments that coincide with this disease.
As I heal up and become stronger, while I still have the free time from work, I started thinking of ways I can help increase HHT awareness in my area. Suddenly the dream came alive in my mind. I could use Facebook to encourage others to take the information that the HHT Foundation has provided and share it with their doctors. I realized that if all 730 members of this Facebook group could drop off information to 5 local hospitals or medical facilities, 3,650 local hospitals and medical facilities would now be aware of HHT. Could you just imagine if the next time you take your child into a medical facility with nosebleeds you hear “we know what this is and we can take care of it?” The people of the HHT Foundation have shown us that we can make a difference so I am going to make one!"
Support Keith and the HHT Foundation.
Get your family and friends to WATCH THE COLORS LIVE
from 9:30-9:45pm and 10:30-10:45pm.
HHT Taking Global Awareness to New Heights
As you know, June is National HHT Awareness Month and June 23, 2012 was the 1st Global Awareness Day! Many individuals have been sharing their HHT Awareness stories on the HHT Foundation's Facebook page.
Here are a few news stories that have aired on local television or printed in the newspaper:
A'Lisa Hamilton - Local Family Shares Scary and Bloody Disorder
Krystal Pearce - Living with HHT
L. Wayne "Doc" Hanks - Local Family Raising Awareness About Blood Disorder
Keith Scouten - Lighting the Niagara Falls in Blue and Red on June 30th
We are grateful to the Patient Association in Argentina for posting the Global Awareness Day Logo on their Facebook page and promoting awareness activities.
The HHT Canada Association has arranged for the CN Tower to be lit in blue and red on June 29th. You can read the Press Release for this event or visit their newly created website, www.hhtcanada.com, and Facebook Page.
As June comes to a close, we'd love to hear what you have done or plan to do in the month's to come. Contact Cathleen Kinnear at the HHT Foundation International office.
HHT Awareness is not a one time activity, it is a lifetime event.
Join us in this fight!
HHT Research In the News
HHT research publications are on the rise. Dr. Carmelo Bernabeu, Chair of the HHT Foundation Global Research and Medical Advisory Board, documented this phenomenon in the 2012 Vol. 1 Direct Connection newsletter. Read Dr. Bernabeu's article; Preview the full list of HHT related publications since 2004.
Clinicians and Scientists from around the world are publishing their findings about HHT mechanisms of disease, links to other "common" medical conditions, and clinical trials testing the efficacy of prescription drugs on HHT symptoms. Through our partnerships, we are able to produce inspiring outcomes within research. The HHT Foundation is grateful for the donors who make these advances possible!
Dr. Rosemary Akhurst, researcher from the University of California - San Francisco, through her HHT Foundation funded study of modifiable genes, researchers can now answer the question, “Why can different members carrying the same mutated gene have different symptoms or severity of symptoms from other family members?" and provide easier pathways for therapeutic agents to treat Pulmonary AVMs. You can read the Full Paper entitled, "Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary hemorrhagic telangiectasia", that was published online on January 10, 2012 in nature communications or the Summary written for the most current edition of the Direct Connection.
Dr. Raj Kasthuri, Hematologist and Director of the University of North Carolina at Chapel Hill HHT Center, recently wrote an article for the Direct Connection entitled, Iron Deficiency in HHT, which details the causes of anemia and the current courses of treatment. The relationship between iron levels (anemia) and blood clots has been explored by several researchers. Dr. Claire Shovlin, Pulmonologist and Director of the HHT Center at NHLI Imperial College in Hammersmith, England, summarized her recently published study linking Low Iron in HHT and Blood Clots. This is an initial study that needs additional funding to validate its' results. In fact, the Centers for Disease Control and Prevention (CDC) is planning to launch a Flickr album devoted to personal stories from people who have had a blood clot. They would like to highlight people who have experienced deep vein thrombosis or pulmonary embolism. In light of Dr. Shovlin's recent publication, there is evidence that this does occur more frequently than previously thought in HHT patients. If you would like to participate and briefly share your story, please email a photo and one or two brief paragraphs about your experience in overcoming and managing your disorder, along with a signed Consent and Release Form, to Cindy Sayers, CDC Health Communications Specialist. You can visit the Clot Connect Website for more information.
Additionally, the HHT Foundation and participating HHT Centers are currently engaged in two critical research studies - the NIH funded Brain AVM Study and the HHT Foundation funded NOSE Study (North American Study of Epistaxis). Both of these studies require patient participation. Read the article published in the latest issue of Direct Connection for a summary of each study, eligibility requirements, and a list of participating HHT Centers. To learn more or to put your name on the list of interested participants, contact Nicole Schaefer, Director of Education and Research Programs, at 800-448-6389 or [email protected].
The Brain AVM Study is half-way through it's five year funding cycle, but the researchers have already seen crucial results. Drs. Aditya Bharatha and Marie Faughnan et al., have published an article, "Brain Arteriovenous Malformation (AVM) Multiplicity Predicts the Diagnosis of HHT" in Stroke, a Journal of the American Heart Association. This discovery will have a tremendous impact on increasing early diagnosis of HHT among the brain AVM population of patients. Early diagnosis, in turn, will reduce catastrophic events that can lead to death and disability. The HHT Foundation is anxiously awaiting this study's final report.
Drug therapy is becoming an option for HHT patients which will significantly increase their quality of life. Bevacizumab, more commonly known as Avastin, is getting a lot of attention in the HHT research community. This drug was originally developed for cancer patients but has since been modified and is being tested to determine it's effectiveness in reducing AVMs in HHT patients. The NOSE Study is examining the efficacy of Avastin, along with two other agents and a placebo, on reducing/eliminating nose bleeds. Dr. Sophie Dupuis-Girod, an HHT Clinician in France, recently published the results of her study, "The Use of Bevacizumab Among HHT Patients with Severe Liver Involvement" in the Journal of the American Medical Association. This summary of her research gives us HOPE that high cardiac output due to severe liver involvement associated with HHT can be reduced or eliminated which means that a liver transplant will no longer be the only option for HHT patients.
Sherri M. Lukes, RDH, MS, in collaboration with Marianne Clancy, Executive Director of the HHT Foundation, wrote an article in Dimensions of Dental Hygiene entitled, "Detecting Hereditary Hemorrhagic Telangiectasia" detailing how dental hygienists can improve health outcomes by recognizing the first symptoms of this genetic disorder. This article is not research based, but the volume of HHT research publications, along with the HHT Foundation's partnership with many health care professional organizations like the American Dental Hygienist Association, is increasing awareness and, ultimately, the diagnosis of HHT. Educate your dental hygienist; Print a copy of this article and take it to your next dental visit.
These research advances, along with many others currently taking place, will lead to future therapies for HHT in the 21st Century. Members of the HHT Foundation receive regular alerts about new clinical trials, findings, and treatments. Please make sure your membership with the HHT Foundation is current. If you are interested in furthering these advances, the HHT Foundation welcomes your donations to FUND exciting NEW PROJECTS!
NEW HHT Research Published in NATURE
We are excited to announce that the results of HHT Foundation funded research conducted by Dr. Rosemary Akhurst (UCSF) et al. was not only published in the online journal of Nature, nature communication, on January 10, 2012 but it is the featured image of this publication.
As stated in the article, "Hereditary Hemorrhagic Telangiectasia (HHT) shows considerable variation in clinical manifestations, suggesting environmental and / or genetic modifier effects." Pulmonary arteriovenous malformations (PAVMs - pictured) are found in approximately 50% of patients with HHT. Therefore, it is important for us to understand the development of PAMVs in order to determine possible drug therapies.
In 2008, the HHT Foundation awarded Dr. Akhurst a $50,000 research grant to study gene modification. It was anticipated that Dr. Akhurst's research would open up a whole new area of investigation as it addressed a fundamental question in HHT - What gene(s) act in concert with endoglin and ALK1 to predispose certain patients to the development of PAVMs? It was thought that this modifiable gene, in stark contrast to the original two genes (which are receptor genes and difficult to target for the formulation of therapeutic agents), may give us an easier pathway for treatment. This was the first HHT Foundation study to be funded that partners basic laboratory research with clinical research and was conducted in collaboration with HHT Centers in France and The Netherlands.
The research is now complete and the results have been published in NATURE's online journal. Dr. Akhurst et al. "analysed two European cohorts of patients and identified single nucleotide polymorphisms in PTPN14 that are associated with the presence of pulmonary malformations". According to Dr. Akhurst, "This is a basic study in molecular mechanism. We have identified a gene that differs between individuals and, depending on which form of the gene is inherited, this influences the risk for PAVM in HHT patients. We have also shown that this gene connects into the ACVRL1 and EphrinB2 Pathways. This tells us more about molecular pathways downstream of ACVRL1, which is essential for future drug development or drug strategies (for HHT and for angiogenesis in general). "
READ (pdf) the paper entitled, "Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary hemorrhagic telangiectasia", that was published online on January 10, 2012 in nature communication (scroll to the bottom of the page).
CLICK HERE to read about the other research studies that were funded by the HHT Foundation in 2008.