Taking CHARGE for Sophia

This post is one I have been struggling to find the words to write for some time now. Mostly, for some time now John and I have been struggling to understand the many unanswered questions going on with Sophia's health and the uncertainties that would mean for our family's future. Only a few days ago, we got those answers. So we took some time to figure out between ourselves what these answers mean before we decided there is no time like today to share these unanswered questions with those who truly love and support our sweet girl.

After a few days in the hospital, Sophia's health issues started to grow. It seemed like each few days another symptom would emerge from no where. It was a constant battle of up and down between thinking one thing was being cured and another symptom creeping in to cause more problems. I am sure those of you who have been following our story have noticed this trend. Because of the number of symptoms and concerns that kept arising with Sophia, the doctors ordered a geneticist to start following our daughter more closely. The genetic doctor began ordering tests, labs, and several different exams to try and put the pieces together as to why Sophia had so many life threatening health condition right from birth. As you remember, this all started with her Cohanal Atersia, then the heart echo showed some minor defects in the heart. However, many of you weren't aware (as neither were we until after the fact) that this began in the womb when they discover Sophia had small reflux on her kidneys or what the call, Hydronophrosis.We were told by doctors then that this was something that could be cleared up with a round of antibiotics. Little did we know, it was leading to something much much more. So within, the first week Sophia was presenting three related symptoms and from then they just kept seeming to pile up. The genetic doctor began to speculate that Sophia had a very rare condition called CHARGE SYNDROME. He then, pursued a chromosome work up and gene analysis with several more screening. These labs were to take several weeks for results. These were the results we were dreading to receive but were not at all surprised by the findings when we received word a few days ago....

The day of Sophia's first surgery, the doctors had wondered and worried given her current symptoms if there were more hidden symptoms that could complicate her procedure. So right before her surgery, the doctors ordered a heart echo stat to check for complications. They also at this time ordered an eye exam. So right before my one week old daughters first surgery, literally right as the wheeled her into the OR I was told the results of these two exams. One being that my daughter has two small black spots/holes in her eyes which are called Colobomas. I was then told that colobomas can not be fixed and may result in mild to severe vision loss. Then there is the kicker, as they had wheeled her into OR, the anesthesiology told us that Sophia had two small holes in her heart. Literally at that moment my heart and myself hit the floor. John had to pick me up both physically and emotionally of the floor. I was devastated. Inconsolable! John at that moment never shined more as my hero and I know he was just as broken on the inside. After we gained composure....which felt like several days later. John and I started to research and educate ourselves on what CHARGE syndrome was and how it could be affecting our daughter and her future. It was very scary reading. So as days progressed, we were on the look out for new symptoms. We found comfort and relief as we could mark some off the list and then disappointed and yet quite consciously aware when another symptom would appear. Perhaps, one of the most devastating symptoms that appeared  for me to handle was partial facial palsy. Days before the discovery, we had been having several really good days with Sophia. She was a happy, content for the moment little baby girl. We had even got her to smile. Sophia gave John and I a very special gift and smiled ear to ear one day while we were holding and singing to her. We were even able to capture the precious moment on video. So much to my surprise and heartbreak, I was torn, anger, and simply felt robbed when the palsy appeared. I felt like this was the icing on the cake. I felt attacked and betrayed that one of a mother most precious treasures was being taken from me right before my eyes, my daughter perfect, sweet smile. Stolen from me forever. I was so angry and at a loss of faith. I felt like I was being punished. It simply was not fair. The palsy too was an evil evil symptom of CHARGE. As a result of the palsy, we had an MRI done to look for answers. There were non to be found because part of the mystery with CHARGE is that is causes cranial nerve damage and the nerves still look completely fine on an MRI. The next couple days, we also discovered on the MRI that Sophia had minor under-developments of the inner ear which could lead to partial or profound hearing loss. Really, what else can this disease be robbing my daughter of... My daughter could miss some of the worlds most precious little gifts. Absolutely heartbreaking. It is still to this day hard for John and I to talk about and to be optimistic about. We want nothing more than our daughter to be able to take part and enjoy life in all of its richest and we hurt because we know she will have many hardships. No one wants your child to have to struggle and deal with hardships out of your control. This is the hardest thing for John and I to understand and there is so much we do not understand. So as days continued to progress, we arrived at surgeries two and three and then more symptoms arise which led us to the current surgeries 4 and 5. Everything is related to CHARGE syndrome.

As days progressed, it became quite clear to John and I as well as the doctors that Sophia had CHARGE. These speculations and fears were confirmed a few days ago. We have had 6 weeks to process this information, this fear, this uneasiness, this worry and well I think we will continue to process these things for much of our lives. However, we have also realized many things along the way and have grown and conquered many of these fears and will continue to battle as a family unit. We are grieving the loss of our "perfect newborn" and our going through all of those stages of loss. We waver between anger and sadness and doubt and fear and acceptance. It is hard to not be jealous and envious of our friends as we watch them bring their "perfect babies" home and yet we kick ourselves for thinking that way. We would never wish anyone to have to go through these hardships with their child. We struggle, we cry, we yell, and we move on. We have accepted our challenges and know we will conquer this together. We have found comfort in knowing that Sophia will never know the difference between our normal and hers. We are slowly growing and getting adapted to our new normal. We have many things to learn and many things to overcome. We will overcome.

So what is CHARGE syndrome...C.H.A.R.G.E. is an acronym that stands for Colobomas, Heart, Atersia, Retardation of Development, Genital/Urinary, and EARS. It is a very very rare syndrome that causes many severe and profound medical issues from birth. Often life-threatening condition like Atersia and heart defects. It can also causes many learning disabilities due to cranial nerve damages and children being hospitalized for so long and often. It can also cause physical changes to ones appearance like small ears or palsy. Charge is a rare syndrome that affect 1 and 10,000 families a year. It is very rarely heard of and many doctors are still unclear of what all the symptoms entail. It is not genetic or passed down from parent to child. It is a random change in  one very small chromosome when a baby is being form at conception. It could happen to anyone, but no one ever think it can happen to them.

John and I have been very apprehensive to share this knowledge about Sophia with the world because we ourselves have so many unanswered questions and we fear being bombarded with questions and worry and pity. The doctors often respond that only time will tell what Sophia will be capable of or how  these symptoms will affect her health in the future. It is so hard to know that these things exist but not know how they will affect your child until she grows and develops further. Its hard knowing and yet not knowing anything at the same time.  Our greatest fear is that Sophia will not be accepted as normal or will be treated differently. We have many fears and worries about her health and future. We are greatly hurt because we can not stop or change the hardships she may face. We have also found comfort and confidence in knowing we will never stop doing and giving Sophia everything she needs to make her life easier. We have found great comfort in knowing she will always be LOVED and she has an amazing support system within us and her family. So for now, our goals and struggles are to get Sophia through these current health issues so we can get her healing and home. We will be proactive in doing what we can to provide for Sophia in all of medical, educational, and emotional needs the best we know how. Sophia may have a long journey ahead of her but it is John and I's goal to make her life the very best we can and fill that life with love and support and comfort. She is our greatest treasure. She is nothing to be ashamed of and she is worth sharing with the world. It may not be the life we had planned but it is our life, she is our life, our love and our strength. She is a blessing beyond blessings and we hope the world will grow to love her as much as we do.