NORD Summit

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When Mila was diagnosed, we quickly found that no one knew anything about her disease, Myhre Syndrome, leaving us with the feeling that we had to do something to create awareness so others didn't feel as we had.  So it was put on our heart to start a Foundation. Up to this point Myhre syndrome families only had a Facebook closed group to connect to other families and learn from.  Creating is something I enjoy so I eagerly jumped in.  For weeks it was paperwork and filling out forms.   We were thrown into this "rare disease" world, not knowing what it meant.  But, like a kid playing in a pool when they are at the beach and not realizing what lies beyond, this week, at NORD's Rare disease, Orphan Drug Summit, I learned what the Beach is... Rare diseases.  Yes, you can read statistics or catch an article in the paper, but seeing it first hand has impacted me and I now see that our purpose is bigger than Mila. In all we do in life we do for the glory of God, this foundation is no exception. While a huge piece of it is to benefit and because of Mila, Rare diseases are devastating and our Foundations purpose will serve many.  To add some figures:


- There are 7,000 rare diseases.  

- an "Ultra Rare" disease, is 1in 1,000,000 or fewer. (Yes Mila is 1 in a million!)

- 25 - 30 Million people in the US alone are affected.

- Only 10% have a treatment.


With these staggering numbers, Industry (Pharma), Regulators (Government) and PAO's (us) are trying to work together to find treatments for these diseases.  While it takes time, it more importantly takes money.  The truth behind this (like anything in a capitalistic society) is that this is a big business.  While the biotech companies, and natural offshoots, try to capitalize on this Industry, I did get the feeling that all of the 3 entities involved truly wanted to help.  


There were times when I got lost in new terms like "Vectors," and "biosmiliar" or "Placebo Arm." I felt like I was at an orientation again, which in hindsight I realize that is exactly what it was, an orientation to learn how to promote and support this small community of individuals with Myhre.  The FDA spoke on regulatory changes and their efforts to support innovation.  The NIH discussed what they were doing to help rare disease communities in partnering with academic institutions, scientists and Non-profits to advance natural science.   There were times when the promoter, NORD, (National Organization of Rare Diseases) seemed to have an agenda of selling a product, but the undertone of the conference was clear... Rare diseases are terrible and there is a whole new world trying to do something about it.


What does all this mean for Myhre?  For Mila?   It means that, if, we passionately fundraise, do a good job at collaborating with the right partners, and we strategically steward the resources for a cause, we can make a difference.  Yes, Myhre Syndrome is considered "Ultra Rare," and the thought is that this small a segment of the population would get lost, but in the world of Rare, everyone seems to have a voice.  I am sure that we do not have the audience that Cystic Fibrosis has, and we may not get to sit at the same table as Angelman syndrome, but one thing is for sure, I am going to try!  


God has allowed Mila to have been born with Myhre.  That is clear. God chose us to be her parents. That is our privilege.  God has put us in this time of innovation and medical advancement.  That can be seen.  God has put it on our hearts to work for a bigger purpose, that is God's will.   So... We are compelled to act.


There were moments throughout the conference where I was overloaded with information, my brain felt mushy and my attention waned.  There was one constant that brought me back to attention and kept me going, our Mila!  When I thought of her I had the attention, and the stamina to pay attention and be present.   The fight for loved ones was the common story from these PAO's, but for me, I have one other purpose that didn't seem to be in that room and is why there is no failure in this outcome.  Our eternal purpose, Jesus Christ, someone who already overcame every illness, can cure any disease and will make every knee bow.  Our purpose, Mila's purpose, is for the Glory of God our Father!


You will see big moves from the Myhre Syndrome Foundation. 

1) Development a patient registry (system to collect uniform information).  This is a crucial first step before we can do anything related to research.

2) Establish strategic partnerships with other patient organizations, NIH, FDA and academic/research arms to build a team for future initiatives. This is for the Long-term goal of “research to trial to cure.”

3) Support clinics across the globes who specialize in Myhre Syndrome and it’s complications. 


All of which starts with you... those who love and care for Mila and what we are doing.  Spread the word.



In Jesus's name!


Justin, Michelle, Sofia, Luca, Roman and Miracle Mila (1 in 1,000,000 is a miracle!)


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