The Menkes documentary and Menkes poster were proudly displayed this week at the National Organization for Rare Diseases (NORD) summit in Arlington, VA. If you haven't viewed the video by Daniel DeFabio yet you can watch it here: https://vimeo.com/120211522
Greetings to our friends, family and devoted Menkes supporters. I promised I would be better at providing updates on the work of the foundation, and yet here another year has passed without this letter reaching the many loved ones who have ensured our continued success. I am very excited to share all the wonderful and creative ways our Menkes community has bonded together in promoting awareness in memory and honor of the children who have forever changed our lives.
New Year’s Eve 2014 was celebrated in Lynden, Washington, with a formal gala called Praying for a Miracle hosted by Amy Demeyer, mother of Baker, a boy who has truly proven that miracles can happen in the fight against this disease. Her supportive community helped raise an astounding $24,000 via auctions, dinner and a dance. Amy has been a devoted supporter of The Menkes Foundation throughout the years by entering a Run for Baker team in local half marathons and selling t-shirts promoting awareness of Menkes.
Kim Larrick, kicked off the month of January by inviting her closest lady friends and family for a night of Sipping & Painting in Mt. Airy, Maryland, to honor her son Ben who is now 8 and thriving because of early diagnosis and treatment. Kim has become one of my dearest friends in this journey that we lovingly say we despise, but also appreciate because of the silver lining of finding the truest of friendships filled with laughter amongst our tears. In past years, Kim and Dave Larrick have hosted The Pennies from Heaven golf tournament that even in the worst of weather has proven to be both profitable and fun. We are sincerely grateful for their drive, dedication and the friendship they have bestowed upon us these last 8 years.
In April, I was invited to Washington, DC, to share the masterpiece film created by Daniel DeFabio in honor of his son Lucas. The film was presented as part of the Terrapin Orphan Drug Conference,which gave the Foundation the opportunity to step into a new venue to educate others on Menkes disease and its only successful (but still experimental) treatment of copper injections. Although the film was only 11 minutes, it left a lasting impression on an audience of over 500 pharmaceutical representatives, bio-chemists, physicians and medical informational technologists. Since this conference, Daniel has had several other opportunities to share his film at other forums, so we are very grateful for his ability to raise awareness through his videography skills. (Click here to watch the film)
In early June, my husband Drew and I were invited to Annapolis, Maryland, by our friends Heidi and Dan Berlin to memorialize their son Adam by running in The Arc’s Superhero 5K/10K Family Fun Run. Team Adam raised the most donations for this incredible event out of all the participating teams. After attending this year’s event as a guest, The Menkes Foundation was invited to serve as a corporate sponsor for next year’s race. We accepted this great opportunity, as we are always looking for ways to support other rare disease non-profits, both monetarily and emotionally.
Also in June, I traveled to Chicago, IL, to attend The First Annual Trot for TJ. TJ’s story is quite unique and one each of you should take the time to learn about through the raw and very real writing of his mother Darcy on her blog at supportingtj.weebly.com. The weekend was kicked off with a 5K run, followed by an authentic city block party. I was humbled by how accepting their community was of me and my best friend Mere who accompanied me on the trip. We had the privilege to eat the best food, play fun games and share sweet stories of the baby whose legacy will live on forever. This event raised $12,500 through the trot, raffles and personal donations.
In July, we were able to serve as a significant sponsor of the first Cell Biology of Metals Conference in Vermont. This conference provided and will continue to provide an international forum for the presentation and discussion of cutting-edge research in the biological and chemical sciences of metals like copper and their related technologies. The Menkes Foundation is proud to be a supporter of this conference and to help make it possible for young researchers to attend, including investigators (who are just starting their laboratories), graduate students, and Postdoctoral Fellows. Chairman Dennis J. Thiele, Ph.D. of Duke University School of Medicine stated “everything The Menkes Foundation is doing is accelerating a collective passion among the patients and their families, and the scientists and clinicians, in a way that I have never seen in the past 31 years I have been a researcher in the field of copper metabolism. Every top scientist and clinician in the world with a research/clinical interest in understanding copper metabolism is soon going to become very familiar with The Menkes Foundation and its mission to cure Menkes disease.”
Also in July, for a personal visit and probably one of my best evenings this year, we were invited to a dinner party at the home of Kim and Dave Larrick in Baltimore, MD, to visit with their son Ben and John Delano, a Menkes boy from Atlanta, GA, who has tugged on every heart string I have. During my memorable evening with Ben and John, I felt confident that Drew and I are doing what we are meant to do. To see two little boys born with a disease that has a fatality prognosis of 3 years, not only surpass the timeline but also excel in almost every milestone because of early detection and treatment, was truly a gift. Ben held my hand and showed me every little trinket and toy in his room and shared stories of each. John in his shy way allowed me to snuggle his fuzzy little head while working his iPad like the true boss that he is. Our son Wesley’s presence was in that room with me, keeping my tears hidden so that I could rejoice that these angels are living the life he was denied. I am so grateful to Allison and Kim for giving us the chance to know their sons, as they are the truest face of hope in our mission to conquer Menkes.
Our favorite Bostonian's will host the 9th Annual Colin Hayes Dinner, Dance and Raffles in Quincy, MA, on Saturday August 22nd. Cheryl Wallace and Danielle Hayes, the grandmother and mother of Colin, have worked hard every year to host this successful and entertaining event. This annual event has made it possible for us to do a variety of awareness advertising including medical journals, radio PSA's, billboards and the sponsorship of research conferences.
As you see, these ambitious fundraisers have not only given us the wonderful opportunity to meet and greet incredible people but also to keep our promise to our angel babies that Menkes disease will be known in the medical community. At one time, our Menkes community was isolated and almost invisible, with little to no emotional support for families experiencing this heartbreak. Today, our presence is growing rapidly, with fundraising and awareness events almost monthly and several social media support groups to connect those sharing the same journey. None of this would be possible without our network of generous family and friends, kind words of encouragement, prayers and perseverance. Despite the success this year has brought, the lingering sadness remains for over 19 families who are grieving the loss of their child to this dreadful disease in the past twelve months. We mourn with each of them, and are humbled that they trust us to honor their baby with donations sent our way.
It is with great pleasure that we announce that because of these successful fundraisers we are now able to collaborate with The National Institute of Health in Bethesda, MD, in its efforts to study a cutting-edge method for newborn screening through the use of DNA Sequencing Analysis using PKU blood tests. Efforts are also underway to establish a Menkes patient registry that will directly impact the progression of the only current clinical study on Menkes disease.
In addition, we will continue to support medical and scientific conferences, both stateside and internationally, including our sponsorship of the International Copper Meeting 2016, for we firmly believe these will serve as a gateway to finding a cure one day soon. Awareness and early detection are crucial to the efforts to ensure that children with Menkes can have a chance of normalcy and longevity, so we will continue to promote awareness through marketing items, billboards, and journal advertisements. Stay tuned for more great things to come, especially in November, the dedicated month to Menkes Disease and Awareness.
In recognition of rare disease month the Menkes Foundation is proud to make a contribution to the 2015 Cell Biology of Metals Gordon Research Conference. This conference will provide an international forum for the presentation and discussion of cutting-edge research in the biological and chemical sciences of metals like copper and their related technologies. The Menkes Foundation is proud to be a supporter of this conference; and to help make it possible for young researchers from various disciplines to attend, to include investigators (who are just starting their laboratories), graduate students, and Postdoctoral Fellows. The Menkes Foundation would not be able to continue our mission to improve research and awareness without those who’ve made generous contributions to our cause in honor of a child that has suffered from cruelty of Menkes disease.
Chairman Dennis J. Thiele, Ph.D. of Duke University School of Medicine stated “everything The Menkes Foundation is doing is accelerating a collective passion among the patients and their families, and the scientists and clinicians, in a way that I have never seen in the past 31 years I have been a researcher in the field of copper metabolism. Every top scientist and clinician in the world with a research/clinical interest in understanding copper metabolism is soon going to become very familiar with The Menkes Foundation and its mission to cure Menkes disease.”
The guiding principle of this conference is to encourage communication and discussion of ideas and new unpublished results at the frontier of the field of the Cell Biology of Metals like copper, by bringing together outstanding research scientists and trainees from academia, industry, and Government. The Cell Biology of Metals is interdisciplinary and involves researchers from a wide array of scientific disciplines, including molecular biology, biochemistry, cell biology and physiology, chemistry, plant sciences, and human disease.
The slate of speakers at this conference is absolutely first-rate, with an international collection of world-leading scientists engaged in research on the roles of metals in biology. Particularly relevant to Menkes Disease are speakers such as Michael Petris, Svetlana Lutsenko, Jonathan Gitlin, Roman Polishchuck, Martina Ralle, and others whose work is intimately tied to understanding human copper metabolism. Furthermore, this meeting will have speakers such as Pontus Gourdon, who determined the structure of the copper transporter from bacteria that is functionally equivalent to the Menkes protein. These studies have given us tremendous insights into how the Menkes protein function and how mutations alter function.
Our knowledge on the role of metals and metal complexes in biological systems, ranging from viruses to humans, is expanding at a rapid pace. This Gordon Research Conference on the Cell Biology of Metals will serve as a focal point to bring together a diverse cadre of researchers from different fields to foster the transmission of new information and ideas, and to facilitate the genesis of new collaborations that propel the field forward. Central disciplines will include genetics, cell biology, physiology, and medicine as well as the chemistry and biochemistry of metal homeostasis by a range of organisms. Session topics that will be covered encompass the mechanisms for metal absorption, distribution, utilization, sensing, and regulation at the cellular and organismal level; metal co-factor assembly; metals and pathogens; the structural biology of metal proteins; metals in growth, development, and disease; manipulation of metals in cells; and other areas that will advance our understanding of the biology of metals as they relate to model systems, agriculture, and human disease.