If someone were to tell you that there were only 170 people in the WORLD that had a rare genetic condition, what do you think would be your chances of having it or having a child with it? I can answer that for you...there is a 2% chance of your child having this condition.
As you can imagine Sophie has had many doctor appointments in Toledo as well as in Ann Arbor. I am very pleased with both places, with the exception of an isolated incident that took place at U of M. During these different visits I was approached two different times, by two different doctors asking if we have had genetic testing done on Sophie. Of course my response was no. Why would we do that. Dan and I were under idea that once we had the HD and heart issues taken care of, Sophie would get back on track and start meeting her developmental milestones. Boy were we wrong!
On November 23rd, 2011 I took Little Miss to see Dr. Hannibal at the U. Dr. Hannibal is a geneticist. Once we arrived he started asking questions, taking pictures, examining Sophie, and he kept saying, "if it is what I think it is..." I stopped him and asked "Can you please tell me what you think it is?" Dr. Hannibal stopped what he was doing, looked me straight in the eye and said he truly believed Sophie had Mowat-Wilson Syndrome. Mowat What? Exactly, those were my thoughts. With all of my research that I had done preparing for this appointment, this is one syndrome that I had never heard of. I kept my composure for a while. I didn't want to breakdown in front of him. I didn't want Dr. Hannibal to see how scared I was. So, I sucked it up. Literally, I sucked in air through my nose so I wouldn't cry. Then it happened. I opened my mouth to ask a question and my voice cracks. I automatically apologize as if I have done something wrong. Dr. Hannibal actually told me he was surprised that had kept it together that long. I expressed to him that I have had 2.5 years of practice.
Dr. Hannibal sent Sophie and I back out in the waiting area so I could call the insurance company to confirm that the genetic tests, which totaled over $23,000, would be covered. Praise the good Lord they were. Sophie had her blood drawn on November 28th and it was sent to Chicago to separate the DNA. I was told it would take 4 - 6 weeks before we would hear anything.
During that 4 - 6 weeks I honestly believed my daughter did have MWS. There wasn't an ounce of faith left in me to believe anything different. I started the grieving process for my daughter. I became, and still am angry. I am angry that this was happening. The only thing I asked God for was a healthy baby and He decided I didn't get to have that. Everyday for 6 weeks I carried my phone with me everywhere. I even slept with it next to my bed as if they would call in the middle of the night. I am laughing at myself too!
On January 2, 2012 I was driving the company vehicle to Jackson to make some sales calls. It had been 6 weeks and 1 day. My phone rang at 10:34 and I saw the 743 #. I knew it was the U. I took a deep breath and answered. Dr. Hannibal asked me how I was, like he really needed to ask that question. I said fine. We all know what fine means. He said he received the results back and asked if I really wanted them over the phone. I said, absolutely. Dr. Hannibal said that Sophie didn't have a mutation of the ZEB2 gene but she had a deletion of that gene which confirmed his diagnosis of Mowat-Wilson Syndrome. At that moment my world stopped. It is one thing to believe it in your heart, but it is something completely different to have it confirmed. It all became even more real.
After I received the call I went and picked Sophie up from Auntie Amy Jo's house. Sophie was spending the say with her since her sitter's son was sick. Sophie and I went home and I had to break my husband's heart by telling him my fears were confirmed. Dan and I handle things in two completely different ways. Dan doesn't deal with it until he knows for certain. I handle them at the first sign there might be an issue. I would rather prepare for the worst.
In one phone call our entire lives changed forever. I have had people tell me it is ok, that it doesn't change anything, we still love her. I have had people tell me that God is in control and He will take care of her, that Dan and I were chosen to be her parents because He knew we would love and take care of her. As great as all of that sounds, I am going to be completely raw here, it is a load of BS.
1st...nothing about this is OK. ABSOLUTELY nothing.
2nd...you can't honestly believe that nothing changes. EVERYTHING changed...EVERYTHING.
3rd...Yes, God can heal her, but right now, in this moment, my faith is running slim to none. God didn't save my boys, why should I expect it would be any different with my daughter?
4th...I know you are trying to make us feel better, but nothing will.
At this point I am asking my family and friends to be patient with us. We are working through some pretty tough stuff right now in our lives and it is only going to get harder before we will see the light on the horizon. Our lives are forever changed.
I am grieving the loss of my daughter. Not in the physical, but in the emotional and mental sense. My daughter may never be able to tell me she loves me. I may never hear those words from her. I may never hear mom, or dad, or I'm in pain. I will be lucky to to hear those words. In the 5% lucky. I have deep, deep pain. Please, be patient.
I have copied and pasted a little bit on MWS. You can find more at mowatwilson.org
"Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects. Mowat-Wilson syndrome is often associated with an unusually small head (microcephaly), structural brain abnormalities, and intellectual disability ranging from moderate to severe. Speech is absent or severely impaired, and affected people may learn to speak only a few words. Many people with this condition can understand others' speech, however, and some use sign language to communicate. If speech develops, it is delayed until mid-childhood or later. Children with Mowat-Wilson syndrome also have delayed development of motor skills such as sitting, standing, and walking."
