Elise has never given us high fives before, no matter how much we practiced with her. Elise was in one of her really silly moods and I held my hand out for a high five and surprisingly she hit it! I cheered and she loved that attention so every time after that she gave me high fives. Way to go Elise!
This video cracks me up because at the end I realized I was holding Bryn's sucker in my other hand and Elise couldn't concentrate on anything else but the sucker I was holding. She does give a quick high five in here but did more before I got the video camera.
The agency Elise has been receiving HI (habilitative intervention) services through called Thursday morning and said they were shutting down their business as of that day. There was no warning sign of it at all so I was completely caught off guard.
What this means for us is that the two developmental therapists who have been coming to our home five days a week for the past 9 months will no longer be working with Elise. I didn't realize how attached my family and I have gotten to both of these fabulous ladies until the tears came. This may not seem like a big deal, but we have formed such a tight bond with them.
One of the neat things about having a special needs child is the opportunity to associate with so many wonderful people. These therapists were just a couple of those who have touched our lives and have greatly made an impact on Elise's.
At snack time we'd meet up at the table and talk while working with Elise. We'd bounce ideas off each other, laugh when Elise would start giggling out of nowhere, and cheer like crazy when she threw food in her bowl rather than the floor. They were great listeners and I loved having them in our home. I am grateful for their persistence with Elise and for believing in her. Most importantly, I'm grateful to them for being mine and Elise's friend.
Elise had her EEG done Tuesday morning to test for seizures. She was such a trooper. When I laid her down on the bed she soon began her excited kicks and moving her head back and forth.
All of us agreed she was NOT going to hold still so they rolled her up like a burrito. The tightness of the blanket wrapped around her plus Mickey Mouse Clubhouse made one happy little girl. She laid so still as they made marks all over her head then put wire after wire on.
After it was all done, the nurse turned off the lights and left the room with only me in there. A few minutes went by and I noticed her eyes were starting to close. Another few minutes later and she was asleep and snoring. She was so tired that even when they shined a bright light in her face she stayed asleep.
They had hoped she would fall asleep. I guess keeping her up 2 hours later and her waking up at 5:30AM, like the nurse advised me to do, did the trick.
We should get the results any day.
Today we received Elise’s genetic testing report. A large panel was done looking for two things: first, detect genetic variations to determine to diagnose Rett Syndrome; second, to look for other anomalies or variants in different genes.
It was determined that there are no genetic causes or genetic faults detecting Rett Syndrome. Though Elise exhibits Rett-like syndromes so clearly there is no genetic sign of RTT. There is an outside chance she can still be diagnosed with RTT based on her physical and clinical presentation of Rett-like symptoms.
The large scale test found a change in Elise’s SYNE1 gene. This variant in the gene was not matched in the genetic database.
What does that mean?
Imagine a fingerprint database. While looking for a match to a fingerprint the database is searched to find that match. Essentially, this variant in the SYNE1 gene has not been detected; so there is no matching genetic fault in the genetic database. Therefore, there is no way to interpret what it means.
The technology to look at genes and find problems has outpaced doctors ability to name, diagnose, understand, and to help. Simply put, we don’t know what our little girl has and for the time being there doesn’t seem to be many answers out there as she is now the first one in the genetic database with this type of genetic anomaly.
After the results, Ez and I had a genetic test to determine if one of us are carriers to help piece the puzzle together. We will likely travel to meet with genetic specialists and we will keep praying and hope that you will to.
Synopsis: Elise has a genetic issue with the SYNE1 gene. Because it is rare and has not been detected previously doctors can’t diagnose or give any type of prognosis. For now, it appears Elise does not have Rett Syndrome. So that is what we know for now. Perhaps more will come in the coming months or years.
We love our little girl! Good thing she is so cute :)
While we were eating dinner, Elise laid her head down on her tray. She fell asleep for 10 minutes. I was hoping she would stay asleep and I could just transfer her to her bed. As I went to pick her up, her eyes got really big (deer in the head light look) and she stared straight ahead. Her arms and legs got really rigid and she began making this gurgling noise in her mouth.
I knew this was not normal and wished I had my video camera handy. I laid her down on the couch, trying to console her the best I could. After 15 seconds she snapped out of it, but seemed confused. She returned to her normal self quickly but my gut kept telling me that wasn't normal.
My first thought was a seizure. I googled seizures and when I came across, "Tonic seizures," it summed up what I had seen. I cried. Seizures are a frightening thing and I certainly don't want a child of mine to experience them let alone me watch my child have them.
The first possible seizure I watched of hers was during sacrament meeting at our church a month ago. She fell asleep on the pew for about 30 minutes. When she woke up, she did the same thing that she did the other night. I was concerned as I watched her, wondering if she was having a seizure.
The only thing that came to me was asking her, "Elise are you all right?" I asked it over and over. I don't know why I did. She couldn't respond to me and probably didn't even understand what I was saying. It was instinct though. I didn't know what else to do. She came to and was fine after but it startled me.
I'm beginning to feel a part of what I felt in May. Any day we can find out from the geneticist about her blood work and a possible diagnosis. I don't do well waiting. I've surprised myself with how fine I've felt up until now. I think knowing any phone call could be it is taking its toll on me. We could be waiting until December though. That's the time frame I'm giving them since these things always take way longer than they say.
Elise will probably have an EEG done next week to determine if she is having seizures. The results won't be a definite. If negative we'll continue to monitor them and get back to our pediatrician.
Ez and I talked to a financial planner about our future with Elise. He also has a special needs daughter so it was good to talk to him to know what we should plan for and do.
It was really weird thinking into the future: going to court when she's 18 years old so we can become her legal guardians, setting up a special needs trust, and determing how much financially we will need to set aside for her.
This was never in my plans. It's been a long process trying to swallow the idea of Elise always being with us. That idea actually never occurred to me until this year when I realized she was a lot lower functioning.
When she was first diagnosed I thought she would get therapy, make all these leaps and bounds of improvement and be pretty high funcitoning. Never did it occur to me that she would be with Ez and me forever.
I remember watching Elise as I was blow drying my hair one day awhile ago. She was wandering from the bathroom and back into my room over and over. A thought that had never occured to me before was, "What if Elise never marries?" I then realized, "She will probably never have children." Those thoughts were so heartbreaking. I cried and cried as I finished getting ready. It hurt so much to know that the two greatest things that bring me joy, Elise wouldn't get to experience in this life.
I won't get to help her pick out her wedding dress. I won't be able to watch her be sealed in the temple. I won't get to hold her babies. So many "endings" consumed me that day as reality hit me. Little did I know that not only wouldn't she get to experience those things in this life but would need a caretaker the rest of her life.
I am beyond grateful when a leader of our church gave a talk in a worldwide general conference. His conference address was on, "Grateful in Any Circumstance." He said,
"In His (Heavenly Father's) plan there are no true endings, only everlasting beginnings." -Pres. Dieter F. Utchdorf
As difficult as it is to swallow these realizations, I am eternally grateful these things aren't endings. She will be married and she will have children, just in God's timing.
This is only the beginning for her.
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!