Mila Update

It has been a while since we sent an update and that is thankfully because things have been good. We have all remained healthy, except for a broken foot (Sofia) and a trip to the ER for Mila. With her it is a reversal of the traditional 4th child feeling. Typically, the more kids you have, the more relaxed you are when someone gets hurts. This is not how we are with our Mila. She fell and hit her head which prompted an immediate 911 call and trip to the ER. Thankfully there was no internal bleeding, just a concussion but we learned a lot from this experience. We learned that we do treat her more delicately. We learned that people in the medical field know NOTHING about Myhre Syndrome, but are more vigilant when you say rare disease. We have been blessed with a great team of doctors who are sympathetic to our situation. An example from that night was that our Neurosurgeon responded quickly to the ER doctors concerns about her Chiari Malformation and made himself available to give a second opion on her CT scan. Her overall health is the same. We manage the situation as best as we can, and I am so grateful for a wife who can both handle a lot but who can do it with poise. She is amazing and gives me so much strength by her resilience. So you get a taste of what Mila goes through (and Michelle): - 3 Therapies a week, OT, PT and Speech. - She has regular visits to Cardio, Genetics, ENT, Ortho, Neuro, Optics, and GI... (We hit our deducatable by March yearly). - A trip to Boston every 2 years for a full, multi-disciplinary checkup - Daily breathing treatments (suggested) - She wears leg braces to stretch her joints. She wears them everywhere with additional stretching at night. Her personality is so dynamic and she is really funny. The kind of funny that you know you are and can make yourself laugh. The other day I took her with me to the grocery and when I put on my mask she says, "Oh no daddy I forgot my mask, I can just do this," and she pulled her shirt above her head. We still laugh at that. She is also very smart. Out of no where she was reciting scripture her brothers and sister were learning. At first we did not know what she was saying then when we did, it was verbatim (word perfect). She amazes me daily. She is also so tender and polite. You try to instill this in your kids but with Mila it is her natural heart. There is not a day that goes by where she doesn't ask me "Dada, how was your day?" or comment "I love you daddy, just the way you are." I mean come on! Sensitive daddy is easy to make cry. As we have learned, the compications grow both in amount, but also in severity as a child with Myhre grows. This is the main reason we always respond with extreme caution. The Foundation is trying to make headway, but both with the rarity of the dease and the volunteer nature of the board, this is a tall task. Thankfully passion pushes progress and we are really doing good work. To learn more please sign up for the newsletter www.myhresyndrome.org Our other kids are starting to learn more, as they observe more. They see the doctor visits. The observe the treatments. With Milas bright pink glasses and leopard print leg braces, she embraces this syndrome, we all do. With someone like Mila, a beaken of joy for all who know her, you cannot only embrace her, but love her and want her to be safe. The Foundation has raised over $115,000 in 1 year! This is amazing. With it we started a registry, colonized mice for research, supported the MGH clinic to see more patients and we are planning a 2 day clinical conference for patients, families, physicians, and researchers. People are excited about what we are doing, even our oldest Sofia is doing her own fundraising, check it out! https://docs.google.com/forms/d/e/1FAIpQLScbBSBx2anr-tUQr4smLbhYBNI9vOfTdnWQEBZXB59tHkxVow/viewform?usp=sf_link If you are looking for an amazing book, read "Gentle and Lowly" by Dane Ortlund