We went back to the geneticist today. We haven’t seen her since last year when we received the results of Abigail’s genetic test. After a whole year you would think the doctor would have a lot to talk about and questions to ask, but she did not. Last night before we left, I told Jordan either they would want us to do more tests or they would send us home with no more answers for us, and that’s actually what happened. Basically the doctor told us that there is nothing else she can do for us. Abigail’s genetic test came back with two abnormal genes. Out of those two genes one would affect Abigail’s muscles, however since her muscle tests and reflexes are all completely normal nothing matches us. The doctor even said today that she does not understand how the tests are saying two different things. If this gene is the reason Abigail is developmentally behind she should be failing her tests, but since she is passing everything they cannot explain why this gene is abnormal. It is all a puzzling mess.
This is not the first time a doctor has been confounded by Abigail. We have seen a lot of doctors and many of them scratch their heads at her. She is so far behind in so many areas, but her progress is steady and she is so social and medically great so they cannot pinpoint what is causing her delay. We have another MRI scheduled next week and another EMG to test her nervous muscular system the week after. Our neurologist is retaking some tests we have already done so she can have data to compare and make sure Abigail is developing and is structurally fine.
We are so used to doctors not being able to help us, and not giving us any answers that we no longer worry about it. When we first began this journey I would research for hours and cry when the doctors could not help us. We had a doctor tell us once that Abigail would never develop or outgrow her delay, and that was heart breaking as young parents who were lost in this process. But now I know that doctors do not have all the answers, and that they are not always the best in their field. I take what they say and do what is best for Abigail.
I have learned to trust my gut, and not let disappoint and worry overtake me. I try not to think about planning every detail of Abigail’s future and I am learning to take things in stride. When we found out Abigail would need glasses I was okay with that, but then two months later when the eye doctor then said we would have to patch her eyes too I almost started bawling in the office. How much can one little girl go through? How many tests will she have to endure before the doctors find the answers they need?
I dread going to doctors’ appointments now, and hearing they cannot help us. I dread hearing she is going to go under another test that will just come back normal. I dread Abigail’s future that the medical field will just want to treat her as a guinea pig because she is medical odd, and they love that. But I am so proud of Abigail and no matter what some doctor may say, or what some piece of paper may read, she is conquering things everyday! Yes, on a piece of paper Abigail looks like she cannot do much, but if you saw her every day you could see her progressing.
She is amazing how she is so determined. Her physical therapist and me always talk about how she wants to do more and how she wants to move and play and grow but her poor little muscles just do not quite know how to work. She is being fitted for leg braces to give her some support through her legs and ankles, and her stander is on the way. With all this support we are hoping we can at least get her up, and if we can get her up we are hoping she will love it and want to do more. It is one baby step at a time, and I love it. I love watching the tiny little victories happen everyday. I love watching her learn what she is capable of, and I love seeing my baby turn into a little girl.
Yes, I do worry about her, but not as much as I used to. Every parent worries about their child. But I know this little girl can do anything she sets her mind to. Will she ever walk? I am not sure, but if she does then we will cry buckets when we see that first step and if she does not ever walk then we will conquer other mountains that come our way. This is how I have begun to think. We have a mindset of what is normal. Babies should hit milestones at certain ages, children should be able to jump and run, and they should be about to talk and express themselves. But Abigail has taught me that if the normal does not happen then you can still survive.
Tonight I wanted to bake cookies for Daddy and for our therapists tomorrow for Valentine’s Day. I have always wanted my child to cook with me. I was so excited to have a little girl to play dress up with and cook. But Abigail can’t stand at the counter and help me stir the batter. She can’t sit at the table and place sprinkles on cookies and make a huge mess. But tonight she helped me in her own way. And she made a nice big mess for me! So no while she may never be my sous chef, she is still my kitchen buddy and I love it! She may be a puzzle, but God made a hole in my heart where Abigail fits perfectly!!!