A Message from the president (10/1/2019)
Happy Fall friends! With the change of seasons, we here at the foundation are looking forward to crisp cooler weather and bright new opportunities in placing Menkes on the map. First and foremost, I am so proud of Drew Eckman for reconstructing the website after much nostalgic reluctance. Our Wesley would be so proud of his father for utilizing his talent, skills and degree in creating the first one 13 years ago and the new and improved one of today to honor his memory. I am in love with the sleek clean lines, the pop of copper, the nod to keeping pale blue’s for our angel baby. Less is more and the site sure packs a punch of the latest research efforts within the scientific community, improvements in early diagnosis and ways to give back in honor and memory of those who share our same Menkes journey.
Very pleased to report that Menkes will be represented in San Francisco, California during awareness month in November at the second annual Rare Disease Film Festival co- created by one of our very own Daniel DeFabio and Bo Bigelow. I attended the first in Boston, MA last year and felt privileged to see how creative these parents of children with rare diseases brought together a community of families who often feel frightened and isolated in the land of medicine. I anticipate this year’s event will be twice as spectacular. To learn more visit their site at www.rarediseasefilmfestival.com
In late spring of 2020 the foundation will be a copper level sponsor for the attendance of a new young investigator who has not yet attended a FASEB trace elements in Biology and Medicine in Steamboat Springs, Colorado. This opportunity will allow he/she to see first hand the discoveries and developments that lead to a better understanding of metal homeostasis that will establish new avenues and treatments for disorders of metal metabolism such as Menkes disease. Each time we are giving the chance to share our story to the incredible minds of fellows, researchers and physicians we walk away hopeful that someone will want to start their own lab on Menkes disease.
Last but not least check out our copper shop to find our latest marketing goodies that we know you will want to stock up on or share with friends and family. We would love to see a picture of you with our cozy mug getting ready for all things Fall in the coming months. As always please accept our sincere gratitude for your encouragement and support.
A Message from the president (11/1/2017)
It’s that time of year when I feel the need to reach out to our loving and supportive community of Menkes friends and family. While we have been rather low key in advertising our latest efforts we have continued to keep our promise to our angel we made 11 years ago this month. Good things continue to happen behind the scenes of research and one in particular that we have been biting at the bit to share has finally released their results. The foundation collaborated with Dr. Andy Bhattachargee, President of Parabase Genomics in Cambridge, MA (www.parabasegenomics.com) to create the first newborn screening with a direct focus on diagnosing Menkes disease. After a much anticipated yearlong pilot study it was confirmed that his method was 99.9% accurate in diagnosing of blood samples provided to him of both placebo and those affected with Menkes in samples provided by the National Institute of Health. This is amazing news for those infants born without a previous Menkes family history for their blood will be tested within 24 hours of birth. With the success of this study we are now in contact with Dr. Michael Gelb, Professor of BioChemistry at the University of Washington in Seattle who has also developed a newborn screening method that we are hoping to fund in the near future to allow medical facilities options when it comes to this imperative tool for giving these babies and early diagnosis and a chance of quality life.
We continue to serve as a liaison between families affected with Menkes worldwide and Dr. Kaler, the only physician in the United States who has devoted his life to treating those with this disease. As you may remember from our personal story, our Wesley was not diagnosed until age 8 months. With the maturity of this age he was not permitted to be in the only clinical trial that was using copper replacement therapy secondary to irreversible brain damage from his seizures. Currently Dr. Kaler is conducting a study of those children not treated with copper alongside those who are treated. It was surreal providing our babies medical records to him 10 years after he had passed knowing that his lab results contribute to improving the lives of those with Menkes in years to come.
While I remain passionate for advocacy in Menkes disease, I have also found myself joining forces with bereaved parents of those who lost loved ones to cancer and other rare diseases. In September I walked alongside a dear friend of mine in our Nation’s capital in Washington D.C. to be a voice for better government funding. It was an eye opening experience to see so many parents who have chosen to share their grief for the better of their community by forming nonprofits for research, advocacy and supporting others who face financial burden during their loss. Following the DC event I traveled to Boston in early October for the first Rare Disorder Disease Film festival. These events have me very excited about the future of our foundation as we continue to think of new ways to improve Menkes awareness and research.
We will be key financial contributors for the International Copper Conference in Italy in the Fall of 2018 along with supporting smaller yet just as beneficial for the medical community conferences that focus on copper related deficiencies throughout the fiscal year.
It goes without saying, but I feel the need to express our sincere gratitude for all of those who stand beside us during this difficult month. One would think after a decade of grieving it would hurt less but it does not. The difference is we have found better ways to accept our loss, to see the beauty in what this world can offer even in sadness, and to live each day as if it were our last. We mourn with our dear friends who we have met over the years when they too experience losing a child to this disease. We celebrate the triumphs of those who are meeting milestones and fighting the fight against Menkes with grace and humility. We cherish the friendships of our dear Menkes families and feel so blessed to have a kinship with those who understand our fears and joys without having to utter a word.
This month would just be another month in the calendar but because of those who believed and supported our efforts it is known worldwide as Menkes Awareness Month. In honor of Menkes Month consider donating $29 to help us reach our monthly goal of $7,000 towards our #Cu29 campaign designed by Daniel DeFabio, a genius when it comes to promoting awareness and understanding of Menkes. Again thank you for everything each and every one of you has given this mommy of an angel over the last 11 years.