Miracle Mila's Voice

Hello Friends and Family, Our family recently returned from our second trip to Boston, for Mila's checkups. We are so thankful to all of you for your prayers during our time there. It was hard. Harder immediately after, in reality, then while we were there being seen. By God's grace, Boston looks to be something we will be doing frequently, and this trip we wanted our whole family to come so that we can find enjoyment on these trips, not just sorrow, stress and anxiety. We are very grateful for Frank and Gloria (Michelle's mom and dad) for joining us, treating us and watching the other kids while Michelle and I were with Mila. Since we wanted to make this detour illicit good memories we spent 3 nights in Cape Cod. The kids loved the beach. The ferry rides and backdrop were beautiful and brought a quaint picturesque memory to this trip. The home we stayed in was one from a novel that had as much character and history inside as did the towns we visited outside. A s...

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 gi...

There are over 7,000 rare diseases. Many physicians hear the words "Rare Disease" and think they all have the same or similar challenges. This is not their fault just a product of their training. They are taught to look for symptoms (signs) that give them a clue as to a problem within the body. This is how you treat a problem, most problems, by reacting. With some rare diseases, like Myhre Syndrome, a parent or patient needs a physician to do more than look at the signs, they need them to understand the full spectrum of the illness so that a sign or symptom can tell of a future problem or underlying issue. Why am I sharing this you may ask? We went to see Mila's Cardiologist and there was a sign, a big one, that the effects of Mila's disease is starting to affect her body. As someone affected by a rare disease, we yearn for these sign viewing physicians to think bigger than the symptoms but to truly understand the pathway. A biological pathway is a series of ...

With COVID and our children, we have done a poor job of focusing on anything external to the home.  What that has created is a blissfulness among the chaos which has shielded us from the reality of our situation.  Myhre syndrome is bleak.  Anything that is degenerative, with no cure, is bleak.  We have enjoyed Sofia, Luca, Roman and Mila as much as we can sheltering [in place] the world from them.  Last week we reemerged Mila, bringing her to a Doctors appointment with the ENT.   We were immediately reminded of how much Mila was afraid of MD visits.  Who could blame her.  They checked her ears for infection and her hearing for loss.  She kicked and screamed only to relent to the doctors probing of her tiny ear canal.  By the end of the visit a follow up was scheduled and the mention of hearing aids brought our reality home.  The degenerative nature of her disease has stricken Mila's hearing.  She will require assistan...

I am sorry for the long lapse between posts.  Like everything during COVID, even time is different.  God in His sovereignty, has a plan for this season.  He is working. (Great sermon:  https://www.youtube.com/watch?v=NGsDCAtd0PQ ) While we can try we will never know what the purposes are but I believe there to be a million reasons for this and if quality of time is one of them I hope families every where are hugging there loved ones tighter, having deeper conversations and exploring a faith that will sustain when we return to normal.  I will say that the time with Mila, with all our kids, has been sweet.  It is funny that when quarantine started it was cold.  That first "official" day I was in a sweatshirt, playing around the world (basketball game) in the rain.  Lego challenges with family in Kentucky was daily.  Food rationing felt like it was going to be a thing and no one knew what social distancing meant.  Now, a whole new host...

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 ...