Cardiology Appointment

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 interactions among molecules in a cell that leads to a certain product or a change in a cell. Such a pathway can trigger the assembly of new molecules, such as a fat or protein. Pathways can also turn genes on and off, or spur a cell to move. Some of the most common biological pathways are involved in metabolism, the regulation of gene expression and the transmission of signals. Pathways play a key role in advanced studies of genomics (from wikipedia). This is why we started the Myhre Syndrome Foundation. We want to support those who study these pathways so that we can change these adverse effects. Research is key. If we can help then we can also know more to inform physicians like Mila's cardiologist so that we are not just reacting. Mila's cardiologist did an EKG and echocardiogram of her heart. When she was examined over 1 year ago there were no signs of stress except mildly high blood pressure. This time there was. Mila's little heart is showing signs of narrowing in her aortic valve. The good news is the change is small and requires no intervention at this time. The bad news is there is a change which is a sign of dangers to come. When things like this happen I feel guilty. I immediately think of how I could be working harder for the Foundation. I get angry with COVID and how it slowed our progress and fundraising. I want to act to do more for Mila and the other families. I want to pray for Mila and a miracle. Myhre Syndrome Foundation is doing wonderful things. We have started the registry which is so important to collect data across a world of cases. The research we funded and clinic support we provide bring so much hope to those affected. The problem COVID presents, like most businesses, is access has been virtual and researcher's time has become divided because they have a new enemy to fight. The positive with those in our influential network is that the passion to help is the same because they know that COVID should not stop progress. So we push on. I believe our Lord can do miracles. We believe the bible is "absolutely true," and it is a book of miracles. We believe a miracle can be done, through Christ, in Mila's body and in her heart. Although we know God can do anything, is healing Mila the greatest outcome? Is there greater Glory, like using her/her story to reach and save other's? My hope is the miracle of her healing is the story that saves but I have to trust God's will for her life and ours. In Jesus's ministry on earth he healed many diseases, but his aim was to first save their soul (Matthew 9:1-8). So if I believe that there is a greater Glory, and the torment of Mila's body serves that purpose, then we as parents, entrusted with the precious gift of Mila are to steward His resources to that end which is God's Glory not ours or Mila's. All to the Glory of God our father. What we do believe is that God wants us to pray without ceasing. He wants us to get on our knees in surrender. He wants communion with us, a dependence and a deep relationship. So, we get on our knees every night, and will continue to do so, hands over our angel, and seek surrender to our Lord. In the end, all of us will gain, even in trial, with a heart that surrenders to a God where we find hope. https://www.desiringgod.org/interviews/how-do-i-pray-for-healing-and-honor-gods-no?utm_mediun=mobile&utm_source=ios&utm_campaign=Ask+Pastor+John Please consider a monthly gift to MSF. No amount is too small. www.myhresyndrome.org/ Love, Justin, Michelle, Sofia, Luca, Roman and Miracle Mila