Last week Elise had her genetic appointment at Primary Children's Hospital in Salt Lake City. We've been waiting six months for this visit and would've waited over a year if we hadn't gotten on the high priority waiting list.
We met with a geneticist who suggested further genetic testing. Picture every piece of genetic information that creates who a person is represented on paper, each piece of genetic information has its own paper and the millions of papers are in a file cabinet. Based on this analogy, they will be looking for the piece of paper—a literal needle in the hay stack—that is wrinkled, missing, or dog-eared. However, the geneticist was confident that something could be found. So we are working at getting more tests approved for Elise to have deeper genetic tests to potentially find the wrinkle in her genes.
Now to any scientists reading this . . . sorry for my horrible explanation of genetics as I have been told and understand them! It is much more complicated and much more scientific than this explanation, but it makes sense to us! So . . . with that being said, the doctors we met with suggested the following actions:
· An MRI of Elise’s brain to ensure that there are no physical deformities, functions, or problems that can be detected on MRI.
· A 24 hr. EEG to determine if Elise is having seizures and to see if there are other elements that may be impeding her development or preventing her from reaching her potential.
· Further genetic testing (as mentioned above).
After we met with her she suggested we meet with a pediatric neurologist and ordered other lab tests to complete that day. There was a lot of waiting around for lab work and to see if we could be seen by a neurologist that day. I love how accommodating they are to families who travel out of town. They were so helpful and an on-call neurologist was able to meet with us later that afternoon. We are so grateful for their accommodating to us. Elise did so well being at the hospital all day, letting the doctors and nurses assess her.
The doctors did confirm that Elise has a Rett-like presentation. The doctors agreed with the tests and procedures that have been done by our doctors and agreed with their previous conclusions. If further genetic testing fails to reveal additional information, it is probable that Elise may be diagnosed with Atypical Rett Syndrome. Finding another genetic issue may be promising as further cognitive regression or physical deterioration typical of Rett Syndrome may not be occur if another genetic finding comes to light.
In conclusion, we didn't get any "answers." To some this may seem discouraging and frustrating for us.
However I feel the opposite.
As an inventor, Thomas Edison made 1,000 unsuccessful attempts at inventing the light bulb. When in an interview he was asked, "How did it feel to fail 1,000 times?" Edison said, "I didn't fail 1,000 times. The light bulb was an invention with 1,000 steps."
Elise probably won't have 1,000 tests done but for every test, every appointment, we are that much closer to finding the answer. I don't feel like this visit was a "fail" or all the other tests that have come back normal. Slowly we are ruling things out and piece by piece solving this complex puzzle.
“Patience is tied very closely to faith in our Heavenly Father. Actually, when we are unduly impatient, we are suggesting that we know what is best--better than does God. Or, at least, we are asserting that our timetable is better than His. We can grow in faith only if we are willing to wait patiently for God's purposes and patterns to unfold in our lives, on His timetable.” -Elder Neal A. Maxwell
We recently discovered that Elise loves the song, "Do You Wanna Build a Snowman?" Her reaction to it is seriously the cutest thing ever. I'm not sure what's fascinating about it to her. Usually she likes the fast, upbeat loud songs and has never watched the movie. Something about this song makes her extremely happy and that happiness is contagious as you watch her light up the room. In the midst of all of her complexity it is an amazing moment when she relaxes and has her big open-mouth smile. These moments of clarity and expression is a beautiful reminder that a soul consists of a spirit and a body. In these moments it is as if Elise does not need a body to express her magnificent spirit inside.
*Please pardon the noises from her little brother Cal (but he's pretty cute too!)
**She particularly likes the beginning of the song . . . sorry for the repeats!
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!