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Menkes Month 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.

Warmest regards, Jamie S. Eckman
The Menkes Foundation

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