Genetics Meeting at Children's

Thursday we had our big genetics meeting at Children's that we have been waiting for for months. We discussed our family history and Erin's progress to determine what tests to have run based on that discussion.
We are still waiting for the results from the three tests the pediatric neurologist ordered back in October. We won't have those results for 2-3 MONTHS! The good news is based on her "medical presentation" the doctor said if she had to bet on a diagnosis it would not be Rett Syndrome. Obviously, we were very happy to hear that but until we get the results it's still in the back of our minds. We will continue to pray and know that whatever is going on with Erin is all apart of God's plan. Only he knows what is best even though we cannot understand it. She is continuing to make progress each day and that is all I can ask for. Thanks be to God.

Psalms 139-12-14
"Even the darkness is not dark to You, And the night is as bright as the day. Darkness and light are alike to You. For You formed my inward parts; You wove me in my mother's womb. I will give thanks to You, for I am fearfully and wonderfully made; Wonderful are Your works, And my soul knows it very well."

Jon Rocks!

Have you ever met someone that you KNEW was going to be an important person in your life? Your not quite sure why but in our case we knew.
Last night we met Jon. Jon is the Director of Pediatrics at North East Rehab and he came to our house for 1 hour to work with Erin last night.
I can't tell you sense of relief and HOPE I felt when he left our home.

My daughter is 17 months. She doesn't sit up by herself. Most of you that have infants understand how far behind that is. Most kids are walking by 12 months so that gives you an idea. Jon was here on his first visit to meet with Erin and evaluate her physical abilites. You can tell he works with children and loves what he does. He had Erin laughing within minutes of meeting him. He watched her move around or should I say roll around to see how her muscles were working and to see her in action. They were getting to know each other and it was fun to watch. She was super smiley and giggly almost as if she knew he was here to help her. Sean and I sat back and watched them interact and get acquainted. A special little meet and greet. I felt so happy that someone with his expertise was going to be apart of her life now and shortly I knew why.

After working with Erin for only 5 minutes he had her sitting up almost by herself. This is no small feat in our eyes because Erin has never sat up unless we pulled her up ourselves and he told us she pretty much knows that too! We are enabling her in so many words and we need to help her help herself. He showed up a few steps on how to get Erin to sit up and as if by magic she got it! I even videoed it so we would remember the steps to practice it with her. He did say it takes a child between 1000-5000 "trys" before they get it so we still have quite a way to go but we saw hope and progress. It was awesome!

Blood Test and Evaluation with Pediatric Director

Yesterday was the big day...one of them. Erin had her blood drawn at Children's in Peabody. I was anxious all afternoon and wished I could take the test for her. I knew it wasn't a heel prick so it wasn't going to be fun for her. Thank God Sean was there because he held her while they did the test, I didn't go into the draw area. It was too small and they had two other nurses in with her to do it. I was sitting in the waiting room listening to the nurses talk to her and prepare her arm, then I heard Sean start to sing so I knew the test was coming. I heard them talking to her and was waiting for the outburst. I took that time to pray to God. God please if it be your will don't let this test be positive and could you also make it not hurt! Well, the first part of my prayer was answered because before I knew it the nurse pulled the curtain back and said, "All done Mom" I was shocked because I never heard a whimper! Prayer answered.
Now the hard part waiting for the results.

Today Julie, one of Erin's OTs has set up an at home visit with John the head of pediatrics at Northeast Rehab. He is going to evaluate Erin's motor skills to see what her physical abilites are so we can create a more unique plan for her. He will also discuss any potential equipment she could benefit from. Nancy one of her other OTs brought us this corner seat with a pommel in the middle so she can't slide out which has been great for her. Up until this point she used the Bumbo seat but her little thighs are too chubby to fit into the seat. I'm not sure what else they can give me but I'm excited to discuss. The rehab center also offers aquatic therapy so if my insurance covers it we will be starting that soon also. I think she would love that because she loves the water. We are looking forward to meeting with John.

DNA Tests

Tomorrow we are taking Erin to the Children's lab to have her blood drawn for the DNA tests for Rett Sydnrome. I have mixed emotions about it as you could imagine. I want the test done to get the clock ticking so we can get the results but I am also scared to death to find out.

If you are unfamiliar with Rett Syndrome imagine the symptoms of autism, cerebral palsy, Parkinson's, epilepsy, and anxiety disorders…all in one little girl - that is Rett and I was completely unfamiliar with it until recently.

As a woman over 35 I was always afraid of the chance of Down Syndrome and ironically Sean and I are of the mind set that we are grateful for whatever God gives us. We refused all screening tests like amnio and other tests because no matter what the child had we graciously accepted. I guess once I had my new baby in my arms and saw that all the fingers and toes are present I didn't think about whether she would make her developmental milestones, I was just happy she was here. I never thought we'd be facing something like this and regardless of the outcome I wouldn't change a thing. She is my precious child and she is the love of my life. My greatest fear is that she won't live a normal, happy life, get married or be able to have children. This disorder slowly takes all progress and speech your child has made and basically makes them helpless in their own bodies.

I can't believe this would be her fate and I am truly trying to "trust in God" but what if the answer is no...?
Praying like never before. It's my new hobby.

Genetic Testing for Erin

Last week we heard back from the insurance company that the 3 initial genetic tests we were waiting to have have been approved. We contacted the pediatric neurologist at Children's to let him know we want to go ahead with the tests. Once we hear back we can go and get these tests done. The outcome will tell us if our little angel has Rett Syndrome. If you are unfamiliar with Retts you can read about it here:http://www.rettsyndrome.org/about-rett-syndrome.html

We are praying it is not God's will for our little girl. Please pray with us! Thank you!