Update
We have received a lot of calls asking about Mila so we felt an update was important. Mila is doing wonderful! She is speaking full sentences, in her unique voice, and running around the house after her older siblings. She is still proud of her thick prism glasses and more recently wearing "pull-ups" as we begin potty training. She is taking a gymnastics class and will be starting in a preschool next fall. These are all exciting things but also very sobering reminders of how different she is. She doesn't move the same, grow the same or look the same. She is unique. To us her differences make her special, she is Mila, but to the world people are starting to be more inquisitive. For Michelle and I we used to say she has special needs. While this may be true based on the support she needs the more accurate description is that Mila has a ultra rare disease.
The more we live in the world of rare diseases the more we learn this is a world met with obstacles and a future of many trials. Individuals diagnosed learn quickly how little research there is on their diagnosis. People may get excited when they hear news, daily, about cures and treatments, but this is not the case for the masses. Because while some rare diseases are known and have tons of funding (like Angelmen's syndrome), support and attention; most that live in our world are lost. Of the 7,000 rare diseases there are only a handful you may have heard of, meaning the majority aren't recognizable. What does this mean for Mila? It means that odds are against her for a cure. We can talk about our hope in Jesus, our faith that there is a purpose for all this, there is. But what if her story is not heart warming but more heart breaking. In the world of Rare, that is a more common outcome.
I know the spirit of this message is more bleak than normal. Sorry for that. Reality is a mind-frame we need to have. There could be a global cure for gene editing (targeting) that can cure all mutations but when you are deemed ultra rare, the access to certain treatments and groundbreaking cures are the same, rare.
So what do we do. Michelle and I live at peace with the news. We enjoy every second with Mila. We have rearranged our lives to enjoy "time" not stuff. We value the quality of each moment. This is a lesson of a life well lived. When people say, "life goes to fast." I feel confident our family will say yes but we enjoyed each other during it. Mila brings out our perspective. She is teaching us that happiness is not dictated by circumstance (also that ignorance is bliss). We laugh at all her quirks and she grows our hearts to think and live more selflessly because her purpose, our purpose is grander... to glorify God.
We will send more updates as we go through a season of check-ups. Things we are always watching out for are the Chiari 1 malformation, her proportionately small aorta, the stenosis (strider) in her airway and for the most imminent dangers like pericardia. We fear the other warnings like hearing loss, early puberty, ADHD and depression. Again, if you are new to what Myhre is, it is a multi-system connective tissue disorder, so for Mila, we have to watch out for everything. That is why the miracle of a cure with her genes is our greatest hope. If Jesus came back that would also be pretty miraculous.
An update on the foundation:
In 2019 the Myhre Syndrome Foundation celebrated the end of it’s first year. In 2019 we became the first registered 501c3 charity dedicated to supporting Myhre research and advocacy. Our website was launched and we established our Professional Advisory Board, made up of 9 researchers and physicians representing 4 countries.
MSF was accepted as a member of NORD, Eurordis and CORD and after meetings with other rare disease affiliates, we have officially signed with a patient registry to track our ultra small pool of patients. We are the largest supporter of the MGH Myhre clinic in Boston, the largest clinic in the world for this disease and we, along with a research team have supported a "mouse-model," which is the first tangible step in learning about a pathway to a cure.
This is thanks to you and your support. I hope you feel that. But, if you have read this far I need to plead with you to give more and if willing to be a monthly donor. As our community grows, so do the demands of the Foundation. As our Foundation grows so does the reach, our influence and breadth of knowledge. This brings us to a place where we can start doing big things for the community. We can support more clinic days, we can support more research initiatives and more fundraising events.
In Love, Justin, Michelle, Sofia, Luca, Roman and our Miracle Mila
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