Shwachman-Diamond America and in helping a little bit recently with Mitochondrial Disease efforts.
I have two boys with clinical Shwachman-Diamond Syndrome and secondary Mitochondrial Disease, so rare diseases are a part of our daily lives and very much a part of our vocabulary. We can never escape it. Shwachman-Diamond Syndrome has no cure. Mitochondrial Disease has no cure. There are treatments that can help alleviate the symptoms, but there is no cure for either disease. We know that Mitochondrial disease can be progressive, as can Shwachman-Diamond Syndrome. Both can be life-threatening and deadly and we've lost too many friends to both diseases.
Yes, we have many blessings and life is good. We just deal with a lot of medical issues on the side. I don't often write the bad and ugly side of the diseases the boys have because we choose to focus on our blessings and abilities more than anything else. For our family, these diseases do not define the boys, they do not define our family. They are very much a part of who we all are, but they are not the total sum of our lives. They affect almost every minute of our lives, but we continue to enjoy life in spite of the obstacles these diseases bring.
These rare diseases even come up in confession for me. Just a few weeks ago, I had to confess that I was angry with God and tired of urine. It happens. I don't always carry my cross squarely on my shoulders with Joy as St. Josemaria Escriva reminds us we must do. I battle with God over accepting them and am sometimes angry with Him for allowing these monsters into our lives. Mostly though, I am thankful that we have been chosen to suffer in this way for Him and with Him. I once told a friend that I could never identify with Christ Crucified until we'd lost so many babies and we dealt with having sick children.
One Divine Mercy Sunday many years ago, I remember sitting outside at the Shrine of Our Lady of Czestochowa in San Antonio, TX. They had one of the largest Divine Mercy images I have ever seen hanging outside during Mass. This was the first day I fully accepted that Sean had been diagnosed with Shwachman-Diamond Syndrome. I'd been battling with God about this for months. Later, when Joseph was diagnosed, I battled again. I even told God that He'd only had to have one Son crucified. There was a point when I would even say this to the Blessed Mother (I fully admit I am not always on the path to sainthood!). The points at which the doctors have believed the boys would need a bone marrow transplant, the times I've seen my children suffering without being able to help and watching them fight the daily battles to overcome obstacles have been my biggest crosses. I've begged God to heal them and give me a death by the worst and most painful cancer there is in exchange for their health. Over the years, I have come to learn that healing comes in many forms. Spiritual healing and physical healing. I also believe acceptance is a form of healing, too. Just being able to accept the crosses without getting caught up in the why of it all can be quite freeing. Of course, when I ask, "Why me?", Jesus usually replies from the cross, "Why me?" I get your point, Lord.
In the middle of the night one night, I called a friend. She came with me to Eucharistic Adoration at our church, St. John Neumann, and we both laid on the floor before Our Lord and wept. I think this was the first time I could identify with Christ on the Cross. Until then, I knew He'd said from the cross, "Father, Father, why have you forsaken me?" but I could never understand how the Son of God could say such a thing. Of course Jesus knew His Father was with Him always. That night, I realized that Jesus knew His Father was with Him, yet He cried out anyway. I felt the same way.
As a cooperator in Opus Dei, my faith developed as we were taught at weekly gatherings and monthly retreats. I began to realize that all of these late nights with sick kids, the suffering, the pain and everything involved was a way for me to sanctify my life, if only I would offer it to God and allow Him to use it according to His Will. I've tried to help my children do the same in their battles with Shwachman-Diamond Syndrome and Mitochondrial Disease.
Joseph doesn't like to talk a lot about his daily "medical procedures". He has written articles about them in the past because he hopes his words can be of help to another child. We live by the clock for timing of these things-- every four hours. Pills at every meal and main medications in the morning and evening. Pills before exercise, other medications to mix in with drink or food and IgG every week (SCIG). We have battles to take medications on many days, but mostly the battle is them remembering. It isn't like they are left to their own devices to remember. It is mind boggling that I set the pills out and remind them and they STILL forget! Luckily, God never forgets us!
One of the most gut wrenching moments for me was when Joseph had to start cathing. The doctor told us both and was going to send a nurse in to teach us. They left the room and Joseph started screaming, "NO! NO! I don't want to do that! I don't think Jesus is with me! If He was with me, this wouldn't be happening! NO!" He had tears streaming down his face and I tried my best to stay calm and collected. I hugged him as tight as I could and prayed that I could take this cross from him. The nurse came in and I asked her to leave us for a few minutes so that we could pray. We prayed and asked God to help us see the bright side of illness. We offered it up for several people we knew going through hard times. It was hard, but Joseph did it for Jesus.
Several weeks later, skipping through a parking lot Joseph said that cathing wasn't so bad. His dad asked, "Really? Where'd you learn that?" Joseph replied, "Mom taught me how to look on the bright side."
I'm not always looking on the bright side, I do have my moments. When Sean has a migraine that lasts many days, I can't find much good in that. Their daily pain (Like yesterday, Joseph was hobbling around all day because his hip hurt) and chronic fatigue is something else I battle with seeing the good. Joseph has been battling an infection for six weeks now and I have a hard time finding good in that, too. They have learned to offer it up as a prayer to Our Lord and it is life as they know it. That is the good that comes from it. They tend to be more compassionate and understanding of others, too. We don't take so much of our lives for granted because we know how quickly things can go in the wrong direction.
Today, offer a prayer for those battling rare diseases of any kind. Many of these rare diseases have no cure and very few treatment options. Pray for those who have lost their lives to any rare disease-- including Neuroblastoma (rare childhood cancer)-- we've lost a few of our hospital friends to neuroblastoma. I realize that Shwachman-Diamond Syndrome and Mitrochondrial disease are but a few in a long list of rare diseases.