Thank you for stopping by to hear about Annie's story and our life with Rett Syndrome. This has been quite a journey, but let me start from the beginning.......
Scott and I had been married for almost 2 years when we welcomed home the love of our life, James. What a blessing this little boy was and is. When James was about 7 months old we found out that we were pregnant again and were absolutely elated! We joked that having 2 kiddos would make things fair, we would each have a child to hold in our arms since we regularly "argued" over who's turn it was to hold our little Jamesy.
When I realized that I was pregnant with Anna I knew there were changes that I needed to make in my life. . I really wanted to get closer to my faith, I took every opportunity to pray for the child that I was carrying. James had proved to be a very tough birth and I feared that Anna would also bring complications.
I was 8 months pregnant in Dec. of 2004 and still searching to find my way. Christmas time was upon us and we had been going to a Lutheran church for a couple of months now, we liked it. On our commute to Christmas Eve Service I remember being happy that we had finally found a church home, everything seemed to be coming together for our little family. During the service we watched a beautiful rendition of the First Christmas and I was all of a sudden overcome with emotion, I started to weep and couldn't control myself, the story was overwhelming despite the thousands of times I had heard it before. This baby I was carrying was about to be born and I just felt that God was getting me ready for an amazing journey and an even more amazing child that would be change our lives forever. I couldn't control my emotions, I remember Scott looking over at me and asking me if I was OK, I passed it off as overactive hormones, but even then I knew it was more.
13 days later I was in the hospital about to give birth to my sweet baby girl. As I said before, James' birth was very complicated so when I started having contractions with Anna I sort of freaked and headed straight for the hospital, which turned out to be a good thing because Anna needed to be born and quickly. I went through another emergency C-section. Everything went fast but smooth until I realized that Anna had made it into the world but was not crying! I looked at Scott in horror and said "she's not crying, please tell me she's OK, she's not crying!" Scotts eyes were so reassuring and the nurses said, "she's fine, some babies don't cry when their born, you can hold her". I looked at her and fell in love. My Anna.
A few days later we brought sweet Anna home and James was thrilled to have a new sister. The first thing he did was run up to her and hug her saying "Annie"! Obviously the name stuck. Annie was an instant blessing. She was such a good baby, she very rarely cried and when she did it was so quiet and sweet. She slept through the night from day one, "This must be the difference between boys and I girls" I thought since James was up round the clock and ate constantly! Annie was a perfect angel baby.
Holding her paci
Time marched on and Annie continued to grow and thrive. She started to sit up on her own and roll and it was so much fun to see James and Annie interacting together. Life was good! Annie started holding her own bottle and she started feeding herself finger foods. She would wave and throw a ball and spend hours flipping through books. She started babbling and then talking - "da-da" was her first word followed by "ti-ti" (tiger, her favorite animal), "Hi", "Jay" (for James), "no" and then finally "ma-ma"! Those were the days when our video camera had a permanent spot on our counter top catching every single milestone, each new word and all the funny moments that come up when spending the day with a baby and a toddler.
tummy time smiles
holding her own bottle
Getting on her first bike
At nine months of age everything suddenly stopped, little did we know this marked the beginning of a new life. Annie woke that day crying, very unusual for our quiet little angel but babies cry so I didn't think much of it until the crying continued for hours and I could do nothing to console her. My first thought was that she had an ear infection, I had talked to moms that had kids with ear infections (at this point James had never had one) and they had told me that their children cried a terrible cry and were inconsolable. Off we went to the peds office but we were sent home with a clean bill of health and told that Annie was going through a "fussy stage". The "fussy stage" continued and escalated until Annie was screaming and crying for upwards of 8-10 hours day and night inconsolably. We also noticed that Annie was starting to come down with colds ands sinus infections and pretty much anything that was going around, in my mind I kept thinking "her immune system seems compromised".
As the screaming, sleepless nights and virus's continued we became even more concerned because Annie's growth chart was showing a steep drop, she was diagnosed with failure to thrive and Scott and I became desperate to find out what was going on with our perfect little girl. The doctors finally started to take notice and we were sent for testing for all sorts of diseases. Food allergies and celiac disease were first but we quickly moved past those and on to some pretty scary ones. As we went through testing we would wait in anticipation to find an answer to what was happening with Annie but more importantly what we could do to help. Unfortunately things continued to get worse. Annie's happy sweet face with eyes that looked right up at us became a blank stare that would only look down. Instead of seeing her curious about toys, her brother and the world around her we found her withdrawn and uninterested in anything. We also noticed that her physical abilities had halted. This was the time she was supposed to "take off" cruise around furniture, take some tipsy steps and then start running but she didn't she just stopped.
checking out her new toothbrush
After an unseasonably hot April day Scott came home from work to a very irritated (and now 4 months pregnant with baby #3) mother, a rambunctious toddler and screaming baby with a low grade fever - again (by now this was our norm). I had the kids in the bath, I washed Annie quickly in desperation to get her in front of her favorite movie so I could find some quiet. Out she came and plop, I sat her in front of the TV - still screaming - ugg! Back in to the bathroom I started washing up Jamesy and heard Annie starting to calm down (Thank you God!). I got James washed and out of the tub and brought him out to sit by his sister. But Annie wasn't sitting anymore, she had fallen back and was laying down (that's strange). I sat her up again and asked Scott to get the thermometer, I explained what happened and told him that I was very worried. I sat down and held her and said "you don't think she's going to have a seizure or anything do you?" - Mothers Instinct. A minute later she had her first Grand Mal seizure in my arms - it lasted forever and when her body stopped convulsing her breathing was shallow, her face was white and she was unresponsive, I thought she was dead.
911 was called, an ambulance came, James was given to neighbors, we were rushed to the nearest hospital. The hospital brought down Annie's fever and chalked it up to a febrile seizure due to a fever spike. I begged them to keep us there, I explained all that we had gone through and told them that I didn't feel comfortable taking care of her until someone found out what was wrong. They gave us our discharge papers. I grabbed my fragile baby and started walking out, we didn't get past the nurses station when Annie had another Grand Mal seizure in my arms and the crash cart was called. We were transfered to a new hospital very quickly.
Once at Beaumont we were stabilized and admitted and a very tired and stressed Momma Bear started her list of demands that included not walking out the doors without a diagnosis and a visit from a neurologist. The next morning a neuro visited us, we explained all the testing we had and went over Annie's history. There were several metabolic tests he wanted to do and then he said he wanted to test her for Rett Syndrome but was almost certain that she didn't have it since she was using her hands so well.
5 weeks later on a quiet afternoon (which was rare) the phone rang, "Mrs. MacDonald, we have the test results back, Anna tested positive for Rett Syndrome". I think I screamed "NO". Scott and I had looked up each test on the internet and when I looked up Rett it explained Annie perfectly but I couldn't allow myself to believe she had that, it was too much. "I have to call my husband, I have to go" was all I could make out. I called Scott and he knew from the sound of my voice, he came straight home. I knew that we needed some help, I called my mom and she knew and left her work to come over. I went numb and packed a bag for James, he would stay with his Grammy tonight, I had to hold Annie and care for the new baby I was carrying, by now I was 5 months pregnant.
matching tupperware and tops
reading a book
For 11 months I cried everyday. I cried because it was therapy and I need to protect unborn baby Grace. I cried because Annie was still screaming, we knew why now but we still couldn't help her. I cried because when they said she had Rett Syndrome I said what can we do and they said nothing, try to make her comfortable. I cried because I had read about children who couldn't ever walk, talk, use their hands, had breathing problems and seizures and I thought for sure we would be preparing a funeral. I cried because I didn't know anything about special needs and I didn't sign up for this. I cried because I was terrified that Grace would have Rett Syndrome too. I cried because my baby was hurting and suffering and there was not a thing anyone could do about it. I cried for so many lost dreams. Somewhere in the midst of crying we were blessed with healthy, happy, beautiful Gracie!
standing up and playing
Time passed, Annie's screaming lessened but continued, her sleep became such an issue that I was up more with her than with my new born Grace. Her hand function declined until she was unable to feed herself anymore or hold a bottle, or play with her toys. Her "hi momma" and "Hi dada" faded and all her words were gone, her crawling stopped, she was no longer to pull herself to stand and sitting up became a balancing act. Just before her second Birthday breathing issues became a HUGE problem requiring frequent trips to the ER and frequent 911 calls. Her ability to control her body temperature also became a problem on a hot day she would spike a fever, but colder temps would cause her feet and legs to turn bluish - purple. One 90 degree day in summer she was in cold lake water and went hypothermic, this was Rett Syndrome affecting her autonomic system. The worst part was that we couldn't find a doctor who knew what Rett Syndrome, they would literally look it up on the internet and then tell us there was nothing they could do. It all seemed so hopeless.
Today Annie has difficulty chewing and swallowing and is fed through a g-tube at night. She has extreme anxiety, poor circulation, inability to control her body temperature, disrupted sleep patterns, severe digestive problems, hypotonia, muscle spasticity, apraxia, scoliosis, seizure disorder, a heart condition and osteoporosis. Thankfully we are now followed by a world renowned expert in Rett Syndrome but Annie is now 8 years old, she requires 24 hour care and we are still waiting for some sort of treatment. Despite all the medical complications and physical disabilities Annie has continued to learn and grow, her cognition is that of a typical 8 year old, however her brains inability to "talk" to her body has caused her to become "trapped".
Life threw us a curve ball but this was no surprise to God and thinking back on that Christmas Eve in 2004 He was preparing me. Annie was not a mistake, God allowed Rett Syndrome to enter her life and ours. Although I wish this walk wasn't so painful I do thank God everyday that He gives us the strength to go on, the resources to give Annie the best life possible and the support of loving family and friends.
Our family has chosen to celebrate Annie and her life. We believe that she has an awesome purpose on this earth, and so much to teach all of us. We believe that Rett Syndrome will be cured. Not because we think God made a mistake and is going to change His mind one day but because we believe that God is going to use Annie and the girls like her to show His Glory on the earth in miraculous healing just like He has so many times before ( i.e. John 11:4 the raising of Lazarus and John 9:3 the healing of the blind man.). Our job is clear - to raise our children in faith, to keep our eyes focused on God and to keep Annie as strong and healthy as we can until God's perfect time when we are healed.
"For I WILL restore health to you and heal you of your wounds" Said the Lord. Jeremiah 30:17
Hi! My name is Jessica and I am the Godmother to a sweet little girl who is being tested for, among other things, Rett's syndrome. I live in Macomb township, and I think based on some map I saw on someone else's site you live near by. If you could please contact me at Zephaniah31617@yahoo.com or on facebook, I'd greatly appreciate it. Thanks!!!!ReplyDelete
Can you tell me who your expert in Rett Syndrome is? My sister is now 48 and is cared for in a facility. But they keep ripping her out and taking her to the hospital for hypothermia. Rather than being patient and warming her, they are poking and prodding her and exposing her to all sorts of deadly bacteria (MRSA and CDiff) which she will not survive if she contracts them. I'm desperate to find someone who can help me articulate boundaries for her staff.ReplyDelete