Mother and Child
Anonymous Author

A mother's love begins
Before the child is born
And lasts through time
And difficulties
And differences
And many wounds
And days of sorrow
Winding, wearing,
Weeping, sharing,
Changing
Until, at the end
What remains
Is that solid core
That began as love
Before the child was born

It's been said that, "Mother's hold their child's hand for a moment and their heart for a lifetime". Touch your mother's heart this weekend with a meaningful gift to the HHT Foundation in her honor.

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 nicole.schaefer@hht.org.

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!

As members of the HHT community, you have been asking us to help get the HHT word out to the public at large. The HHT Foundation has taken action by producing this video and the associated toolkits on our website. Increasing HHT awarenss is critical to advancing HHT research and therapies, public and medical professional outreach, and physician education.

Now, it is your turn to Take Action!  We need you to spread the word about HHT by:

1.  Watching the video
2.  Passing the video link, http://video.hht.org,  on to your family, friends, local media, and social media sites
3.  Contacting your congressional members
4.  Utilizing the toolkits and resources available on the HHT Foundation website
          Fundraising Toolkits and Ideas
          Press and Media Toolkits
          Legislative Toolkit

All uses of this video, More Than a Nosebleed: HHT, are to benefit the HHT Foundation International, Inc. and all of the families that we support around the world. To maximize the return on our investment, we need your participation  in this Awareness Campaign.

WE WANT TO HEAR FROM YOU! Send a message to Cathleen Kinnear and let us know (1) how the video impacted you; (2) how you have used the video to educate more people about HHT; (3) what ACTION you have taken to increase HHT awareness.

Everyone at the HHT Foundation - Board of Directors, Executive Director, and staff - is excited about the opportunities that will present themselves through this HHT Awareness Campaign. Join us in spreading the word about HHT so we can turn hope into reality... A cure for HHT!

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.