Our genetic test results came back from the lab.
Turns out I have an identical genetic variant on the same SYNE1 gene that Elise has. Most likely the geneticists are assuming that because both Elise and I have that genetic variant and that it doesn't affect me-it likely has no affect on Elise. I could potentially be a carrier but they are leaning to it not being the cause of what Elise has. We recently have had some specialist appointments to rule out muscular dystrophy and have a few more appointments in the future to piece together this puzzle of a girl.
So that is the news of the week! We are happy and good. Every possible door that closes (like this last round of genetic information) is actually a step forward because things can get ruled out. An actual diagnosis may or may not change much; however, being able to know and determine or plan for the future may be useful.
At times it has gotten frustrating with how long and extensive this process has been. I have realized how little of patience I actually have.
Either I've been blessed with an incredible tender mercy or maybe I'm finally learning some patience and acceptance of God's hand in all this; probably a little of both. I don't feel the intense anxiety at having to know or like we're going around in circles. I'm not frustrated, disappointed or impatient of the answers we have been given or the lack thereof.
I finally feel content and at peace.
I guess it has been somewhat gradual because until recently have I realized how peaceful I feel about the whole thing. It feels like a huge weight has been removed from me. I know and testify that it is only because of our Savior, Jesus Christ's Atonement that this is possible. He is the true source of peace. In John 14:26 it reads, "Peace I leave with you, my peace I give unto you; not as the world giveth, give I unto you."
I know our Heavenly Father knows what my family and I need to learn; to grow into what we are to become. Sometimes an easy, fast answer isn't what's best.
I will continue to put my full faith and trust in God and in His timing.
The genetic counselor called this afternoon. I didn't realize how nervous I was until I saw my hands shaking. She told me Elise's results were normal.
I was so confused. I started crying when I hung up the phone. I kept thinking I should be excited, grateful and relieved at this news. Why was I feeling this way then? It was the oddest mix of emotions and I was really flustered.
All I could think about was getting out of there and sorting through all this in my head. I was already planning on going to the temple so it was perfect timing.
As I was going over everything, I realized I had already grieved and gotten to the acceptance point of Elise having Rett Syndrome. I have grieved and accepted Elise having autism. I have put my whole heart out there with each one. For each one of them it has been emotional. I feel like I can't fully move on until I know and now I have to wait some more.
Don't get me wrong, I am very grateful and relieved it is not the classic Rett Syndrome! It is a blessing.
I am mostly confused now. The geneticist and genetic counselor are as well. Elise's primary diagnosis from the geneticist was Rett Syndrome and both of them were so sure. I was sure. She fits the mold. When we talked on the phone she said she still believes there is something going on, given Elise's history and presentation.
The next step is to do a more extensive test. This will test 20 genes rather than 1. Because of the increased amount of genes to test, it will take 4 months to get results back. They will be looking at Atypical Rett Syndrome and Atypical Angelman Syndrome. With each of these, they are either less or more severe than the typical form of that syndrome. If Elise did have either one of these she would be on the less severe side I believe.
I feel peace knowing she is getting all the therapy she needs, no matter what she has. I am grateful the test results came back today. It was a tender mercy. I prayed the other night that we could know before Monday, because Ez and I will be separated from each other during next week. I didn't want to find out without him there and able to talk to. We are being watched over.
So for now I won't get worked up on what she may have. It's too hard.
Come what may and love it, whatever and whenever it may be!
We were finally preauthorized to get Elise's genetic testing done. As soon as I got the phone call with the okay, I put the kids in the car, picked up Elise at school and headed to the hospital. We waited a little then they called her back.
It's crazy how we've waited 8 months for this day and it was over in a minute.
One simple blood draw.
I am so grateful to be moving forward to getting our unanswered questions answered. At least I know we are fully covered with this test now and therapy wouldn't have changed much at all if we had got it sooner.
We should know in a couple weeks what the results are.
We met with the geneticist for 1.5 hours. He observed Elise, asked us lots of questions, went over our family history, then did a full assessment on her. Every so often he would step out of the room for a few minutes.
My palms started to get sweaty and I could almost feel my blood pressure rise. I knew that at the end of this visit either we would come away with a new diagnosis or feel content with the one she already had.
I knew the answer before he even said it. I've known for awhile but I've kept hoping I was reading into it.
The geneticist clinically diagnosed Elise with Rett Syndrome.
She will be getting blood work done in the next couple weeks to confirm it, but on his progress notes, that was his primary diagnosis.
I remember the first time I realized Elise more likely than not had Rett Syndrome. I grabbed her ipad and looked up the symptoms because it had been awhile since I had looked them over. I read them over and over then got this sick feeling and I knew. I sat on the bathroom floor and cried.
I kept trying to forget about it until our appointment but this last month when I saw our pediatrician, she pretty much confirmed it to me as well. I remember her saying, "I'm not so sure it's autism, I think Elise has a syndrome."
At another appointment she kept talking about it like she knew she had it. I realized the pediatrician had to be quite certain that's what it was in order to be talking like that to a mom. We as mothers get worked up easily, especially when it comes to our children and there's no way she would bring it up let alone say that's what it was unless she knew of a surety.
At the end of our visit, the geneticist came back in, turned to me, and asked me what my gut feeling was. I told him I thought she had Retts. He said, "Well I agree with you."
I had a hard time concentrating on what he said after that. A dozen images flashed through my mind. Little girls in wheelchairs, not speaking, not using their hands, and using an eye gaze device to communicate. I can't express how scared I was. Scared of her possible future, scared of our family's possible future, scared of the what ifs, scared of all the possible "endings," and scared of not ever hearing my little girl talk to me. It hurts.
I find when I am talking with doctors and therapists I step into nurse mode. The nurse in me comes out and I treat Elise like she's a patient. I hold myself together and can think logically but when I leave, mommy mode takes over and I'm not so strong anymore. I kept telling myself I was getting carried away and hopefully she wouldn't regress that much and to hold on to hope but in the moment, it's hard to think logically.
As I was walking to our van in the parking garage I heard the scripture distinctly in my head saying, "I will be on your right hand and on your left and mine angels round about to bear you up."
That night we told the kids that she didn't have autism. Brock started cheering and was so excited. He kept saying, "Yay she will be able to talk now and play with me!" Mine and Ezra's heart broke. We told them she most likely will never talk. That is the worst part of it. Sometimes I just hurt so much from wanting to hear my little girl tell me she loves me or what her favorite color is.
I will never give up hope or stop believing in miracles but every doctor we have talked to has said her form of communication will come through a device. I am even more grateful for her ipad now.
The rest of that day and the couple following it were hard. I felt like I had to almost go through the grieving process again.
It was 1 year ago at this same appointment that changed my life forever. Another curve ball was thrown at me again today.
As Elise's pediatrician and I were discussing Elise and I was describing her more in depth she told me she would be surprised if Elise didn't have a syndrome instead of autism. I was surprised at her bluntness but not shocked. We have discussed here and there the possibility of her having Rett Syndrome, but until genetic testing is done, we won't know for sure. Testing is still on hold until we get an appointment (these appointments take forever to be seen!).
Elise's temperament, lack of motor skills, abnormal breathing patterns, and hand movements all point to Rett Syndrome. She fits the mold. The doctor said she doesn't have the classic autism behavior and there were a few other things that are steering her away from it. I am so glad she was honest with me. She is an incredible doctor!
Rett Syndrome is a neurodevelopmental disorder and can be diagnosed with genetic testing on the X chromosome. Rett Syndrome looks like autism, affecting primarily girls, but has quite a few differences. There are 4 different stages, the last one being motor deterioration.
Elise shows many of the signs but until testing is done I am trying not to think about it until we know for sure. I may be spoon feeding her a lot longer than I thought I would have to!
Elise was diagnosed with Autism Spectrum Disorder today.
I was actually surprised how hard today really was and having the doctor officially tell us. We've "known" for the last 5 months that Elise has autism but today we got the official word that we're in this for the long haul.
I guess I really shouldn't be surprised at how I feel because I'm always surprising myself at these moments that are hard. It's all part of the grieving process, but thankfully these moments are much fewer than they have been. I think the hardest part about today was seeing on paper how behind she really was. Her language and motor skills are that of what a typical 7-11 month old child's would be. Thankfully with more therapy and starting so early, a lot can be done to help her and a lot of progress can be made.
At the beginning I was overwhelmed with it all. I felt like I was on an emotional roller coaster. I never knew when something would set me off; it would catch me completely off guard. I remember being in the grocery store by myself and it hit me again and I started to cry. Sometimes I think I'm strong and I'm doing good, then again it just hits. I do feel stronger now, but I still have my moments.
I was talking with a friend who has a child with autism. I completely understood when she told me, "It's not easy knowing your child isn't going to be normal."
I learned that about Elise at the beginning of February 2013.
I took her in to her 2-year check up. The nurse was asking me if I had any concerns for the doctor before she came in. I told her I was concerned about Elise's development and speech, knowing they weren't where they were supposed to be. I had come to the doctor's office figuring Elise would be a little behind, get some therapy, then she'd be fine.
The nurse then left an autism screening evaluation form for me to fill out. I began filling it out. When I got to the question where it said, "Does your child wander with no apparent purpose?" tears automatically filled my eyes. That one sentence summed up Elise perfectly. It was the first realization I had that Elise could potentially have autism.
I blinked away the tears as the doctor came in. She began asking me questions. Every now and then she'd pause, look over my answers then begin asking me more detailed questions.
Finally I asked her, "Is Elise at risk for autism?" She told me there were quite a few red flags for it and that she wouldn't rule it out. She then went on to tell me what steps needed to take place next and therapy needed to be started as soon as possible.
I held it together until I got to the car and the possibility of her having autism hit me and I couldn't hold back the tears any longer. I drove to Ez's work and he came out with a chocolate bar for me :) and we talked. I think we both knew it then, but at least I was in denial hoping she was just "significantly behind" as the doctor put it.
Sleep was hard that night. I kept waking up, hoping it was all a dream. The tight knot in my stomach told me it wasn't, making it difficult to fall back asleep.
It's weird because all of a sudden everything's changed, yet nothing has. Elise isn't any different than a few days ago, but now I see her differently. As hard as it is knowing that she has autism, it is also a relief. Before I knew, I was getting really frustrated with her. Here she was, almost 2 and she didn't know how to use a spoon, wouldn't touch a pen or crayon, and had stopped talking.
I remember thinking, "How do you not know how to use a spoon?" "It's not that difficult!" yet I would have to put her hand on it, and hold her hand on the spoon and put it in her mouth. If she ever let go of it, she'd just stare at it, like she had no idea what to do. Now that I know, I find myself so much more compassionate and patient with her. I know these virtues will be tested much more in the future, but just knowing helps so much.
It's amazing because it feels like I've completely fallen in love with Elise all over again. I understand her, to some degree, so much more and I'm seeing things in her that I haven't noticed before. Things she does that I was always confused about, now I love and am fascinated with why she does them and wonder what she's thinking.
We've told the kids and they've been amazing with her. Tonight Bryn said before going to bed, "Mom will the baby have what Elise has?" I told her I didn't know and asked why. She said, "I hope not because I really wish she could talk and play with me." Those words pierced my heart.
I hadn't considered much of how this was affecting Bryn and Brock. I guess they've seen and been around enough other 2-year olds that they know what they can do. They probably want their sister to play and do the same things those other kids are doing. Although they may not have the typical relationship with her that most siblings have, I do know that she will be a great blessing in their lives.
My heart is full right now. We have been so blessed with the kindness and thoughtfulness of friends and family and we are very appreciative. It's a very humbling experience to be in. I've never been on this end of something before. I'm just so amazed at the love and concern people have for us. I know they are God's hands in helping lift us up.
I feel so much gratitude! I know our Heavenly Father is there on our right hand and left hand with His angels round about to bear up. I've felt so much strength and I know it's because of the prayers being said on our behalf. It's incredible. I've always heard about people feeling strength or help from prayers during hard times, but never have experienced it before.
It's real though. It's a really neat thing.
A president of the LDS church said,
"God does notice us, and he watches over us. But it is usually through another person that he meets our needs." -President Spencer W. Kimball
I LOVE being a mom to my 5 kids; one with special needs. There is no greater joy than being a parent! I love each one individually but this blog will mostly focus on our daughter with special needs and our journey with her. Thanks for reading!