Grace's Story

The day we found out we were pregnant was the happiest day of our lives, but following a very eventful and scary pregnancy we got terrible news. While I was on bed rest at the hospital we found out that our daughter would be born with Emanuel Syndrome. Here is her story...

The Day We Found Out:
Even though I had been in the hospital on bed rest due to low amniotic fluid, it was to be an exciting week. It was Monday and in a few days...Thursday our Doctor had scheduled a C-Section because Grace was breach. We had done an amnio 2 weeks before for some piece of mind because there were so many complications during my pregnancy. During this time is when I was admitted to the hospital, I had low amniotic fluid. The results came back a few days later...everything was normal! We were so relieved, even though our doctor told us the full results wouldn't be in for 2 weeks, but that the tests that come later are problems that are very rare. Well 2 weeks later our doctor called down to our room in the hospital. It was very early around 7am or so. She had asked if Beau had left for work yet, when I said no, she told us she wanted to talk to us about our results. My heart sank. I knew something was wrong and while waiting for the doctor we went through all of my pregnancy books looking for what it might be. It seemed like forever when the doctor and a genetics counselor walked into the room. Our nurse also sat with us. They told us that they tests came back and there was something very wrong. All I remember hearing were the words "your daughter will be mentally retarded (I HATE that word!), may not walk and talk..." They told us most babies that have Emanuel Syndrome miscarry and that they had never seen this before. That there were only 200 or so documented cases. They were not even sure if Grace would survive after she was born. I lost it and the rest is a blur. It was like losing our child we had hoped for. Our dreams of a healthy girl were gone. Your mind goes right to the sports, no college, no hearing your baby say MaMa, or DaDa... It was the worst day of our lives. After the doctors left we just felt lost. They told me I could go home because they now know why I was having so many problems. They wanted us to have time to be with our families. My doctors both (high risk and OBGYN) advised me that even though Grace was breach, she was small and for my health they thought I should have a vaginal birth. The thought of this scared me! I just wanted to keep with the plan of the C-Section. No more waiting around. Let's just have her and find out if she is ok or not. Looking back I am so thankful that I listened to my doctors advice! We went home. Beau and I talked about everything. We tried to look up information, but turned the computer off because it was all too hard to handle. We went through every emotion. We were thankful to find out the news before Grace made her entrance to the world. It gave us time to comprehend what might happen and how our lives were about to change. Looking to our faith, but not knowing what we should pray for, finally we put it in God's hand...whatever his plan...that is what would happen.

She is Here:
Before Grace arrived we spent some time talking to the Genetics doctor, my doctors, the NICU team and I am not sure who else. We came up with a plan, it was the hardest decision Beau and I had ever made in our lives. If Grace was born and needed resuscitation, and had to be on a breathing tube...we just wanted to let her go and comfort her and hold her and enjoy the short amount of time we had. To even say these words crushed me...I felt like a terrible mother and just hoped Grace couldn't hear all that Beau and I had talked about in the past weeks! Otherwise we would just take a day at a time and see what happened. The day came on September 7th. We went into the hospital at around 3pm and Grace made her entrance at 9:21pm. There were so many mixed feelings waiting for her to come. I was excited and terrified. I had her and she came out butt first! She was very pale and not making a sound so they took her right away to do an assessment. I was praying the whole time for her to be ok. I couldn't see what was going on but Beau was with her. It took a second and then I heard a cry. I remember Beau's smile saying, "her eyes are wide open". I was relived. I got to hold her for a shot time before they took her to the NICU. Later the doctors came in to tell us that so far she was doing fine. She was on a very little bit of nasal oxygen and that was it. He told us that she had a very small jaw and a cleft palate, also called Pierre Robin ...they would do more tests in the morning to see what other problems there may be. We got to go down to the NICU to see her and spend a little time with her. It was so sad to leave her there...I just wanted her to come back to the hospital room with us.

The Day of Tests:
The following day Grace was so busy. She had many tests done and to tell you the truth I can't recall them all. The information that we got after the tests were all over was that for the most part all of her organs were fine. She had some heart abnormalities including an ASDVSD, left Superior Vena Cava. We couldn't believe the good news, FINALLY! Another problem was that Grace was not able to take much for food from her bottle. They ended up putting a NG-Tube in her nose to help her take more. We continued to try and bottle/breast feed her, but it wasn't working. She would also make choking sounds while eating and get very upset. We decided with the doctor's advice to have a G-Tube placed in Grace's stomach. This way we could take her home and continue working on her bottle feeding. The same day we had decided on this surgery, a plastic surgeon came to see Grace's palate and small jaw. At first she wasn't too concerned because she wasn't having any "blue" spells and seemed to be breathing just fine. Then she watched her struggle to take a bottle and a very concerned look came over her face. She told us that she thought Grace should be transferred to the American Family Children's Hospital in Madison, WI right away to have her jaw lengthened.

Grace's Jaw Surgery:
The surgery was called "Mandibular Distraction". During the surgery the doctor would make two small fractures on both sides of Grace's jaw. Then she would put in the distractors (screws that turn to lengthen the jaw). Twice or three times a day for about a week they would turn the screws and Grace's body would make more and more bone...lengthening her jaw. During this time Grace would be in the hospital (about 10 days) and she would be on a ventilator most of the time. It all sounded so awful, she was only 2 weeks old. When she explained what could happen to Grace if she didn't have the surgery, we knew we had to have it done right away. The G-Tube surgery was canceled for now. After two weeks in the NICU Grace was transferred to the PICU at the Children's Hospital and the surgery was scheduled for the next day. The surgery was on September 24, 2008. The surgery did not go as planned! Grace came up from surgery, she was so pale and swollen. We felt so bad. Then the doctor told us what happened. Near the end of the surgery something (we have heard two different stories) happened in the operating room and Grace's heart rate dropped. They had to to CPR to get her heart to beat normally again. When they told us about this the first question was what will be the result from her lack of oxygen during this time? The told us that it was such a short amount of time that they didn't believe there would be any complications. Boy were they wrong!

Grace's Kidneys Shut Down:
In the next few days the doctors realized that Grace was not producing any urine. They told us that during the complication in surgery her kidneys took a hit and were not working. We just had to wait and hope they would come back. It was a long wait. Each day standing by her bed staring at her catheter hoping for pee. A little came but it wasn't enough. Grace's little body was swelling up with fluid due to the toxins that her kidneys could not get rid of. It was horrible. They couldn't wait any longer and hoped that putting her on dialysis would help her kidneys. She went back down to surgery on September 26, 2008 and the doctor put in a catheter that was too big for her...because they didn't have any small enough to fit Grace...babies usually don't need dialysis! We were crushed, scarred. We didn't want her to have to go through all of this and the thought went through our minds of how much is too much for Grace to handle. We couldn't imagine her having to be a dialysis the rest of her life. Luckily Grace only had to be on dialysis for 10 days and they they turned it off and Grace was able to stay stable on her own. Her kidneys are still not healed, but stable for now.

Seizures Start:
As if this wasn't enough, Grace also started having seizures. She had two seizures that we could see, but the others were going on and we didn't even know it. Seizures can be a part of Emanuel Syndrome, but in Grace's case, this too was all due to the surgery and lack of oxygen to her brain. Doctors started seizure meds which seemed to take care of Grace's seizures. Grace had a continuous EEG for about a week. I couldn't wait to get all of the glue out of her hair! When they felt the seizures were under control the took the leads off and did an MRI to look at Grace's brain. We met with the neurologists about her MRI, they found that she has a small cerebellum, which is related to Emanuel Syndrome. He told us that it may or may not cause some motor difficulties...but this is not any new news to us. They also noticed some areas that were injured due to her surgery...they may get better with time and he just wants to watch these. A second MRI would show that Grace had some severe brain damage from surgery and the neurologist was not sure what the outlook would be for her developmentally. So she had two strikes against her; brain damage and Emanuel Syndrome.

The Ventilator Comes out,Then Goes Back In:
After two weeks of a machine breathing for her, the doctors felt Grace was ready to try on her own. The ventilator was scheduled to come out at 11am. It would be the first time in 2 weeks that Beau and I would get to hold her. I couldn't wait. After it was finally out we held her all day, but something didn't seem quite right. She seemed very uncomfortable, but the nurse assured us that it was just because she was not used to breathing on her own. When the doctor came in, he immediately had a concerned look on his face. He had blood drawn and the results were not good. Her oxygen levels in her blood were so bad that the room filled with doctors and nurses to quickly put Grace back on a ventilator. We were standing in the corner of the room. Suddenly alarms were going off and we could see Grace's oxygen dropping. It was the scariest moment...which seemed like forever. We found out that she had a collapsed lung. Finally they got the tube in and she was breathing much easier! We felt lucky we got to hold her for a short time, but now had to wait until she was strong enough to breathe on her own. It was another week and they tried to take the tube out again. This time it was successful, but the doctors put her on C-Pap just to help her out a little. Grace hated it. It wasn't long until I took matters into my own hands and tore that thing right off! She was fine and didn't need any more help! HA, sometimes mother knows best!
Getting Better:
Once Grace was able to breathe on her own things slowly got better. She had one last surgery to place her G-Tube and take out her dialysis catheter. After spending her first 2 months in the hospital, Grace finally got to go home. It was an exciting, but scary day. Grace came home with her G-Tube and used a feeding pump, which we just needed to get used to. She also had a lot of medicine that we had to give her twice a day, including a shot that we still give her once a week. It only took a few days and we had the hang of it!

Grace's Story Continued...The Early Years

Doctors and More Doctors:
The first year of Grace's life were very difficult for all of us. We had doctor appointments at least once a week. Sometimes is seemed like every time we went to the doctor there was something else wrong with her. In the first year she was diagnosed with, an ASD, VSD, Left Superior Vena Cava (all 3 are heart problems), small jaw, cleft palate, malrotation of her intestines, kidney failure, brain damage, Cerebral Palsy, high blood pressure, and seizures. Luckily Grace's ASD and VSD closed on their own without surgery. Grace also had horrible reflux and she would throw up a lot. At one point it was so bad that we just had to put her on continuous tube feeds at a very slow rate all day long. The reflux has improved over time and Grace is back to regular feeds now. Grace is on many meds to help mostly with her kidney failure and seizures.

Really, She has Colic too!:
We got used to all of the meds and the feeding pump, but the most difficult thing was that Grace had severe colic! It was horrible. The only thing that would calm her is us sitting on an exercise ball and bouncing while we held her. But we had to be on that ball every second of everyday. You may think I am exaggerating...nope it was awful. The other problem was that Grace did not sleep and we were up all the time. So that also meant we were on the ball. We are not sure why Grace was so colicky, as I don't believe it was part of Emanuel Syndrome, it may have to do with the brain damage that Grace suffered from surgery, we don't know. Finally when she was 6 months old, things started getting better. It was after she had surgery to remove the screws that were in her jaw, from her Mandibular Distraction surgery. After the surgery she seemed much happier! We still used the ball a lot, but not as much and the colic seemed to go away. 

In and Out of the Hospital:
Grace was also in and out of the hospital a lot the first year of her life. Most of the time it was for respiratory issues. Sometimes she would just get a cold and that would lead to a hospital visit, because she had such a hard time breathing. One of the things that really helped and that we use to this day is a suction machine. It has been a savior, and helped us take care of Grace at home instead of going to the hospital.  Grace is now two and we rarely make hospital visits, unless it is to say hi to our favorite nurses :) 

Therapy Starts:
Grace also started speech, occupational, and physical therapies when she came home from the hospital.  Luckily her therapists come to our home. She sees them once a week, although I believe she needs more. We were getting PT twice a week until our insurance stopped the coverage. Developmentally Grace is very behind, but we are so proud of how hard she works and what she has accomplished. It took a very long time for Grace to smile for the first time. I remember crying thinking that she may never smile. I just needed that smile so that I knew she was ok. I think she was about 7 months old or so when we started seeing smiles. It was a great day! Grace is two now and is still working on holding her head up. When she was younger, she hated tummy time, but now she enjoys it.  She has rolled from her side to her back and also can roll from belly to back (with a little help). She tries so hard! She is getting used to her stander, but is not a huge fan quite yet. As far a speech goes, Grace recognizes names "Mommy, Daddy, Grandma, and Grandpa" She also understands "Bath". The communicates with us through smiles, coos, and laughs. She is able to tell us when she wants "more" by cooing. She definitely can let us know when she doesn't like something too. Grace is totally Tube-Fed, but we do give her tastes of baby food. She seems to enjoy tasting new things. 

Over time things have gotten easier, or maybe our family has just adjusted to how things need to be. I will continue to update Grace's blog, as this is just the beginning of her journey!