Mila and Myhre (Chiari Malformation)

My alarm, which is set to music, woke me this morning with the words "You are not hidden." Since Mila's diagnosis, "hidden" would be the correct word to describe what was going on with her, until recently. Now it, the thing formerly hidden, seems to be coming to the surface. There have been plenty of things known about her syndrome. We have known that she would be small and slow to develop. Over the past few months she has started school and her size and development compared to her peers are evident not just in comparison, but in how she is treated. We have known that her mobility and endurance would be less than other kids. Of late, while others play she seems to hang back and watch, unable to do as others do. We have known her hearing was deteriorating and in September Mila received her first hearing aids. These things were known to us and we saw them gradually become more prevalent. Yet,they were not as hidden as what struck our family a few weeks ago. To go back to the beginning, before our diagnosis when various tests were being done, we had a MRI of Mila's brain that revealed a Chiari Malformation. A Chiari malformation is a structural defect in the base of the skull and cerebellum. Normally the cerebellum and parts of the brain stem sit above an opening in the skull that allows the spinal cord to pass through it (the foramen magnum). When part of the cerebellum extends below the foramen magnum and into the upper spinal canal it is called a Chiari Malformation. The cerebellum is pushed down into the spinal canal and the pressure on the cerebellum and brain stem may affect functions controlled by these areas and block the flow of cerebrospinal fluid. We were told we would watch and wait to see if the fluid is able to flow between her brain and spinal column and would be watching to make sure a syrinx (a fluid filled cyst) doesn't form as a result. If one were to arise, intervention would be necessary. With any typical child this is a fairly simple procedure (if you can classify brain surgery as simple). But with Mila, and Myhre Syndrome, nothing is that simple. We were scheduled for a follow-up Friday Dec 10th and Mila had a MRI. Like any parent we were concerned about our child going under anesthesia. Because of Myhre we had extra discussions with the anesthesiologist to make them aware of possible side effects. To be honest we were not as concerned about the MRI as much as we feared the results, and sadly the results were not good. When the Chiari was originally found we were told of symptoms to look for. Things like pain, loss of balance/coordination, difficulty swallowing, headaches, and numbness of extremities, amongst other things. None of these appeared to be worsening so we were going into the follow-up assuming we were still at a place where intervention would not be necessary and the fluid would still be flowing. That is not the case. When the Dr. walked in he, with his limited bedside manor, said "how has Mila been acting... " We knew, we just knew. He proceeded to show us an image of her brain and spine that has a prominent syrinx right at her C1 and C2 vertebrae and that the fluid is no longer flowing between her brain and spine due to this blockage. This will require intervention. There is a cyst in Mila's spine! Just saying it makes my heart drop. Then seeing it. The weight of that alone still hasn't hit home. Surgery (a decompression surgery to create more space for her cerebellum and relieve the pressure on the spinal cord) is necessary at this point to halt the progression of irreversible damage to her central nervous system. We don't want this choice. For the obvious reasons of not wanting our daughter to have brain surgery, but also because of the hidden dangers of Myhre. Because of her syndrome, intubation is one of our main concerns. Intubation, which is a requirement for the procedure, has caused tracheal stenosis in individuals with Myhre because of the fibrotic tissue regeneration. Essentially if there is trauma to her airway (which is likely narrow, because of Myhre) then stenosis (nodule of fibrotic tissue) can occur and this can cause breathing issues. In the worst case a trach is needed to keep the airway open. Thinking about it, I am angry which tells you which stage of grief I am in. So intubation is one issue. Another is the surgery itself. They have to cut an incision on the back of her neck so they can remove a portion of her skull in hopes it frees up enough room for fluid to flow freely, which would in turn dissolve the cyst. Because of Myhre, we now have to think about the healing of the incision and bone removal. If you haven't caught on, "Because of Myhre", this simple brain surgery now becomes a more complex, long term worry. You haven't heard much from us in the form of an update because Mila has been spectacular. All those issues above have been manageable. They have been the things about Mila that we love. It makes her unique and brings the miracle of her life and the joy of her existence to our home every day. I tell others I would not change a thing because that means it would change her, and she is so perfect in our eyes. BUT I would change this. I would change the Chiari that formed the cyst. I would change the decision we face and the fear in her eyes. This I would love to take from her but since we can't, where does that leave us? We have a decision to make. While processing this with family and community we are continually reminded that she is a gift. We are fortunate to be her parents. She is a blessing, bringing joy to our life. 5 years or 50, I would choose her and am so grateful God chose us. The decisions we do not want come with her, so let's go! In the parabel for the Lost sheep (Matthew 18:10-14). Mattew reveals that it is the will of the Father that NO child should parish. We believe that God wants what is best for us and that if we all knew what He did, we would desire the same outcome and His plan achieves this. So, God, who loves us, wants what is best for us and desires for all His children to come to know Him. Therefore, Mila and this surgery serves a greater heavenly purpose than our comfort. He has her. He gave us the joy to be her parents, but He has her and her life will serve His perfect purpose because it is His will for all to come to know Him. Then be not afraid. (I am telling myself this because I am terrified something goes wrong). So to sum it all up, Mila has to have surgery on her skull. She has to be intubated and because of Myhre, both the surgery and process are frightening. Please pray we are well informed and make the best decision for her. Please pray that we have the strength to walk this road faithfully and that we have the faith to trust that the Lord's plan is perfect and His will aligns our hearts to Him. We told the siblings and they too need your prayers. It was a wonderfully sorrowful experience that we know will grow us closer as a family. Pray for Mila, that she remains strong and Her story is so much bigger than "Because of Myhre." We love you! Justin, Michelle, Sofia, Luca, Roman and Miracle Mila. www.myhresyndromoe.org/donate