The "Right" Decision

Dan took Sophie to her check up today and her cardiologist shared some great and not so great news with us. As you may recall, Sophie was born with PDA, Pulmonary Stenosis (both were fixed in August 2011), 2 VSDs, and ASD. Well, the 2 VSD murmurs are now 1 and the remaining 1 is smaller in size. The PDA closure device looks great and so does her Balloon for her valve.

The not so great news is that the ASD hole is 1 mm bigger than 2 months ago. Sophie only gained 1lb in 2 months and Dr. Butto strongly believes that if we wait to do surgery that the hole may continue to get bigger and then the only option he will have is open heart surgery, which we have been avoiding for 14 months! The office scheduled Dan and I to bring Little Miss back in on June 20th and we would schedule surgery at that point, or we call tomorrow to do it sooner.

Dan and I were just talking and we both feel like that if we wait until the 20th that we are that much closer to Sophie having to have open heart surgery. Just typing it out is terrifying. So, what do you do as a parent? Do you wait until the 20th of June in hopes your baby grows more so her body is big enough for the device to go through her arteries and have a successful surgery, or do you schedule it now knowing she isn't quite big enough and the device might work but cracking her chest open is still an option?

The decision we have made is that I will be placing a call to Sophie's cardiologist to schedule her 2nd heart surgery. What makes this even harder to digest is that Dan and I are missing Denton and Quinton. In 9 days in their 3rd birthday. Last year on their birthday I waited with Sophie in her hospital room for surgery the next day. This year, I am terrified we will be taking her in to surgery on that day. I feel like we can't win!

Scorn Not Her Simplicity

I saw this on Mowatwilson.org and I wanted to share. I didn't write this myself!

See the child
With the golden hair
Yet eyes that show the emptiness inside
Do we know
Can we understand just how she feels
Or have we really tried

See her now
As she stands alone
And watches children play a children's game
Simple child
She looks almost like the others
Yet they know she's not the same

Scorn not her simplicity
But rather try to love her all the more
Scorn not her simplicity
Oh no Oh no

See her stare
Not recognizing the kind face
That only yesterday she loved
The loving face
Of a mother who can't understand what she's been guilty of

How she cried tears of happiness
The day the doctor told her it's a girl
Now she cries tears of helplessness
And thinks of all the things she can't enjoy

Scorn not her simplicity
But rather try to love her all the more
Scorn not her simplicity
Oh no
Oh no

Only she knows how to face the future hopefully
Surrounded by despair
She won't ask for your pity or your sympathy
But surely you should care

Scorn not her simplicity
But rather try to love her all the more
Scorn not her simplicity
Oh no
Oh no
Oh no

Mowatwilson.org

I was put in contact with Dave Curry, he lives in Las Vegas and he and his wife have a son with MWS. They decided to develop mowatwilson.org to help others connect with one another. Because of this site, I was able to meet Sarah, a little girl that has MWS and live in Northville, MI. I can't explain to you what it was like.

I was asked to send Sophie's story in to them so it could be published. Well, I did it. Who knew I would be writing our story out...again, but this time for a different purpose.

Take a gander, it will help you learn more and become familiar with the faces of MWS.

http://www.mowatwilson.org/sophie's_page.htm

365 Days Later

What a year it has been! This year has been full of blessings and hardships. Dan and I were just talking the other night and I told him like I have told everyone, I feel like this has been the longest year of my life and in the next breath, I can't believe how quickly time has passed.

Looking back I am going to highlight some of the good and bad points of this past year:

Sophie's birth
Transported to Toledo Children's Hospital for 6 days
Meeting her Grammie for the first time
Coming Home
Sophie being diagnosed with Hirschsprung's Disease
Dr. Butto finding not 1 but 2 holes in Sophie's heart as well as Pulmonic Stenosis.
Endorectal pull-thru surgery when Sophie was just 2.5 month old. It was the day after the 2 year birthday day of her twin brother's. Talk about an uneasy feeling having her go into surgery!
Training Sophie's anus to work properly
4 day stay over the 4th of July at Toledo Children's Hospital because Sophie stopped eating and she was backed up with gas.
Sophie rolled over from belly to back for the first time
Doctor Appointments in Toledo every month
Happy Birthday to me!
Sophie staying overnight for the first time with Nana and Papa
Football Season for Shane
Heart Surgery at 4.5 months- the longest 6 hours of my life...literally
We got MARRIED
Sophie started being awake more and smiling
PT and OT once a week
Shane's 11th Birthday!!
MRI needed for her vision problems - U of M was unsuccessful to say the least
Physical Medicine doctor highly recommended the MRI
MRI rescheduled in Toledo
2 doctor's urged us to have genetic testing done on Sophie because of everything that she had going on. They believed it was related to some sort of syndrome.
Sophie visits U of M for genetic testing. Mowat-Wilson was what she was being tested for.
Thanksgiving...I wasn't feeling very thankful. My husband had to tell me to be thankful for the small things.
Christmas
New Year's
Sophie was diagnosed with Mowat-Wilson Syndrome on January 2, 2012 at 10:31 am.
At that point my world ended and it is starting to start up again!
Sophie getting stronger each day
Another heart surgery needed but they are waiting for her to reach 20lbs.
Sophie laughing and smiling, and giggling daily
Sophie rolled over for the first time from back to front at her heart doctor appointment the day before her 1st Birthday!!!
HAPPY 1st BIRTHDAY  SOPHIE!!!!!!!!!!!!!!!!!

Whew! That is one heck of a year. What I am learning through this journey is that I have to take things one day at a time or even one moment at a time when a day seems too long! We are so blessed beyond measure and I tell myself that daily. Don't get me wrong, all of this sucks but it is starting to get a little less sucky!

What Do You Say?

As many of my friends and family know, I will always find something to relate back to the lyrics of a song that I like or that I have heard along the way. I have also been known to, on occasion, ok...often break out in to random songs.  As you read this please keep in mind this course:

"What do you say in a moment like this

When you can't find the words ooh to tell it like it is?

Just close your eyes and let your heart lead the way

Oh, what do you say?

Sometimes you gotta listen to the silence

And give yourself time to think."

Shane, Sophie and I were on our way back from my soon to be Sister-In Laws bridal shower when Shane seemed to be more silent that he normally is. I asked what was on his mind, a question that I like to ask every now and then. He said nothing, of course, and I asked, Are you sure? Then it started. 

Here is how our conversation went:

Shane: "What kind of job do you think Sophie will have when she grows up?"

Me: Silence

Shane: Asked me again

Me: "Shane, I am not sure you fully understand what is going on with your sister. Sophie will never be able to work, sweetie. She isn't going to have the mental capabilities to do it and your dad and I will take care of her the rest of our lives."

The look on his face was heartbreaking!

Shane: "You mean she is always going to live with you?"

Me: "Yes, honey, she will never be able to take care of herself."

Shane was quiet for a few minutes and I was fighting back tears. Not only was I trying to process everything that Sophie is going through, but everything that my son has to go through as a result of his sister not being what society perceives as "normal." 

What seemed like forever was only a few minutes when Shane piped up again and this time, I wasn't ready for what he had to say.

Shane had a tone to his voice, he was angry, he was hurt and he was sad.

Shane: " I had dreams for my sister. I dreamed she would have a great job. Now that's not going to happen. I dreamed she would drive a nice car. That's not going to happen. I dreamed she would get married and have kids, that's not going to happen. I dreamed she would be able to talk to me, who knows if that will happen. I dreamed she would play with me, I hope that happens."

I was in tears. I couldn't speak. Sophie was in the back seat sleeping and Shane was sitting next to me crying as well. 

All I could tell Shane was that it sucks, it isn't fair, and we are going to do the best we can. I said, I know Sophie will play with you. Then, I reached over and held his hand. We didn't speak, we just cried and I just drove.

So, what do you say? 

All I know is that Sophie's condition just doesn't affect her, Dan and I. It affects every single member of our family. Shane is an amazing child who feels deeply, loves deeply, and honestly cares about people. He loves his sister so much that it hurts me to see his dreams for her crushed. 

So, in our journey together as a family, as friends, I ask that once in a while you don't just ask how Sophie is doing, but also remember Shane in your thoughts and prayers. He needs them.

3 Steps Forward...2 Steps Back

With the passing of my cousin's baby girl, Sophia Lynn, I am brought back to the reality that I too still feel the same pain that Michelle is going to be feeling, either now or later on down the road. Grief hits us like a ton of bricks and I honestly believe that it is even worse when it is someone young, someone who hasn't had a chance to start their lives.

Going through everything with Sophie also makes me grieve the loss of Denton and Quinton again. I knew I wasn't over it, as I will never be, but I had developed some good coping skills, I had worked through my grief, I was in a good place, and now I feel like that I am back at the beginning of my grief journey. Not at the beginning as I am in despair, crying everyday, but that I am constantly reminded that my two twin boys are not here and they never will be. That life is here today, gone tomorrow.

In the process of grieving Denton and Quinton all over again, I am also grieving the death of the dreams I had for Sophie. Everything that she would grow to be, keeping her secrets, hearing the words I love you or mommy. The things that before Sophie, I would have taken for granted.

As I am walking step by step through this journey I am reminded that I do have blessings to be thankful for. even though the darkness is so much darker that the sunshine at this point in my life, I do know that we are blessed beyond measure.

Some days it takes everything I have for my feet to hit the floor in the morning. Some days it is like nothing has ever happened in our lives. I am learning to take things moment by moment. I was at a funeral last year when the Pastor said take things a moment at a time because sometimes a day is just too long. That statement resonated with me and I am learning to take the good moments throughout the day along with the bad ones.

2%

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."