After a year of genetic testing we have an answer. Ever since Eln was diagnosed with hearing loss we have been trying to find the reason behind it. In March, when she began having seizures the need to find some sort of syndrome or diagnosis of any kind became even more important. Well I'm relieved to tell you that all our genetic testing has revealed our answer.
Elin has a chromosomal abnormality. She has a 1q44 deletion. This means she is missing about 11 genes on part of one of her first chromosomes. I don't know if you remember much of biology but basically everyone has 13 pairs (or 26) chromosomes- one from dad and one from mom. With Elin's abnormality what they think happened is somewhere during the initial divide and multiply stage of her development (remember a baby starts as 1 cell and divides to 2 then to 4 then to 8 etc...) a copying error occurred. So very early on in the pregnancy her cells that would eventually make up the entire little miraculous person we have today didn't copy correctly.
What this diagnosis tells us.
When the specific genes that are not present in Elin are absent common symptoms are seizure, motor delay, intellectual disability, hearing loss, corpus callosum abnormality and few other things.
So basically every medical issue Elin has can be explained by this deletion. It also gives us peace of mind knowing that she really doesn't have anything else up her sleeve per se. What we see is what we get.
What the diagnosis doesn't tell us.
How Elin will develop. There is a spectrum once again from somewhat normally functioning people with this particular deletion to some who can never live independently.
How do we "treat" Elin?
Same as we always have. Make sure she has her various therapies- (PT, OT, speech/language, feeding, etc) and believe she can accomplish everything in her own time.
We don't know what the future holds but we are looking forward to finding out who Elin can become.
12 days in Hawaii- what a glorious vacation. The first week we had our Aussie friends (Belinda, Jeff and Harry) visit and stay with us at the Northshore house. It was incredible to see them and Harry and Anya got along so well. It felt like we had never been apart and the whole experience reminded us of how wonderful it is to have such close friends. It really is a shame they live half way across the world- it's heartbreaking considering how well both families get along. Thankfully we have Face time and Skype to keep us in touch and air miles to help with the long hauls.
The second week the Piskels came out to the house. Anya switched from playing with one of her best boy friends to playing with one of her best girl friends. Lucy and Anya made a mean team in the waves and had a blast swimming every day.
Both girls were amazing on the flight over and it was actually our best plane trip to date with kids. 6 hours on a plane is a LONG time for a four year old but she napped and watched a movie so the time flew by.
Elin was laid back and relaxed in Hawaii. Of course our first morning was a rough 3:30am wake up but after that she slept relatively well and the early mornings were nice quiet times anyway. Our daily routine was to wake up around 6am, go on the deck for tea and papaya as the sun rose, run or workout, eat breakfast or walk to Ted's (the local bakery), play play and play some more. Anya napped hard and fell asleep at 8pm every night without a fight. The kids wore themselves out in the big waves and running around on the beach. Myles did a little paddle boarding but the waves were pretty big so he didn't get out much. We snorkeled at Turtle Bay and took the kids to the protected beach on the days the surf was really up. We watched some amazing surfing and the HIC Pro surf competition was being held the second week of our trip so Sunset Beach was full of spectators and world class surfers.
The weather was spectacular- 82 everyday, sunny with only a few rainy moments. Halloween was an experience. Since the weather is warm everyone is actually outside with card tables set up and baskets of candy. The kids don't ring doorbells- it's more like a big block party. The adults dress up too and lots of kids had old school style homemade costumes. Some of the "candy tables" had tequila for adults in dixie cups too. It was a trip. The kids loved it. Anya was Cinderella, Lucy was Snow white and a little girl we befriended who was on vacation with her grandmother joined us and rounded out our princess trio as Ariel.
Elin had her first appointment with the Cochlear Implant division at Seattle Children's hospital. We were fortunate enough to meet with the director of Audiology for Children's, Dr Norton. She was wonderful and Elin warmed right up to her. She was able to explain how the cochlear implant works, what the surgery entails, and the benefits (and limited side effects) the device can have.
We have always wanted Elin to be a part of the "hearing" community as much as possible and it looks as if a cochlear implant in her right ear will assist with that goal. Is it risky- not really. Can she loose what ever residual hearing she might have in the right ear- it's possible. But Dr Norton assured us that they have been implanting babies and toddlers with less severe hearing loss (meaning not totally deaf) and have had amazing results. So we are all in.
The next steps are making sure we get an accurate assessment of Elin's hearing via behavioral testing. This is no small feat. She has been less then enthused in the past about the conditioning game and sound booth so we are crossing our fingers. She did do some testing while we were in the appointment and she actually played the game- so there's hope. We are aiming for some conclusive testing after our trip to Hawaii and hope we can move forward with the process at that point.
In other news, Elin is still seizure free since July 4th. We are actually feeling like a "normal" family and have been able to let our guard down a little (something we all desperately needed). So now is the perfect time to go to Hawaii! We have been able to reduce Elin's medication by quite a bit which has helped her blossom. She sparkles now! It's is so wonderful to hear her laugh and play games with us. It has been an amazing few months.
As far as therapies go- Elin is chugging along. Every week our PT is pleased with her progress and Elin really tries hard when she is here- it's almost like she knows. Her speech is developing also- she has started babbling a lot more which is like music to our ears.
We have had some feeding therapy too because Elin still will not feed herself. She has no interest in picking up food on her tray and putting it her mouth- so that is a work in progress. She does however have an affinity for my green smoothies (kale, apple, berries, spinach- etc) which is surprising since they aren't exactly the tastiest things ever. Go figure- at least she gets her vitamins and minerals that way.
It's time to celebrate! Elin is showing progress. Her motor skills are improving and her new PT is very encouraged by her advancement. This couldn't have come at a better time. It is hard to watch your child stay stuck in one particular spot and worry about whether she will ever move more. Elin is rolling over both sides very adeptly and can tolerate time on her tummy now. She pushes up through her arms and really gets good extension in her back. Her sitting is coming along nicely and she can sit without assistance for long periods of time. Her reactions are developing as well. She can catch herself on an outstretched arm is she tips to one side and can bring herself back up from laying back over her boppy if she tips backwards from sitting. She also has been able to bring her toes to her mouth leading to much excitement over toe sucking so much so she might be developing a foot fetish!
She has begun to mimic movements. If we slap the table she slaps the table, if we take a toy up and down she moves a toy up and down. It is amazing to see her brain working as she figures out all these new skills. Our hearts are light with giddiness and anticipation at what she will be doing next.
On a more somber note, I asked Nicole (our PT) this week the question I had been avoiding asking for months- will Elin walk? She is 14 months old now and just sitting up- crawling is a ways off and walking seems like it might not be something we should hope for. But we still have hope and Nicole cautiously answered my question. She thinks Elin will walk with assistance most likely. This means she will have leg braces and a walker or other such devices. She isn't sure if Elin will ever walk without the help of some sort of device. BUT she said she isn't sure one way or the other. So basically we work on her PT religiously and have made it our goal to do everything in our power to get the girl to walk someday. This is our mission and it helps motivate us to push her through her exercises and spend all our time on the floor.
Her babbling is coming along. We hear ba and ga more frequently. We are still waiting for her first word but I think it's coming. We have been testing her response to the Ling Sounds - (m, ah, ee, oo, sh, s) We play a game where someone is behind her and makes the noise and the person in front tries to decide when Elin hears the sound. Some are easier then others. Moo for example- we can tell she hears that right away because her eyes steady and she smiles now because she knows her favorite soft cow toy is going to be handed to her mooing all the way. Other quieter sounds like sh and s are much harder to tell if Elin hears them or not. She still doesn't turn toward the sound so I think she has a hard time localizing where it is coming from.
On October 3rd we have our first appointment with the CI (Cochlear Implant) team and we are luckily meeting with the head of Audiology at Children's Dr Norton. We will find out a bunch more about whether Elin is a candidate for a CI and perhaps try some more behavioral hearing tests. This is good and bad news. Good because if Elin's hearing loss is so severe the hearing aids aren't helping this will indeed help her hear. Bad because it is a major surgery and she has to have something implanted in her brain. I would prefer not to mess with her brain given her other issues as I'm sure you can understand.
Why is Elin progressing all of a sudden? Perhaps it is simply development, but I believe it is a combination of a reduction in medicine, her vision improving, and her hearing aids being turned up. She has undergone a lot of change in the past few months and now that her seizures are under control (thank god!!!!!) we can focus on her daily activities and get more PT and OT work in through out the day.
Anya has started preschool at Pilgrim Lutheran in Enatai a stone's throw form my parents (yes this was by design). She is happy being back in a steady routine and her Pre-K class seems to be the right fit for her. Elin and I get to spend some alone time together during Anya's mornings away and we either go home so she can take a nap, run errands, or have appointments. It has been lovely.
Other exciting news is our upcoming trip to Hawaii. We had planned a trip last March but had to cancel because Elin's seizures started one week prior to our vacation. So we were fortunate enough to be able to reschedule and we are headed off for two weeks in the middle of October. I can't express how much we all NEED this vacation and how insanely excited we are to be able to go for 2 whole weeks. Our first week there we are meeting our friends from Australia with their son Harry and the second week the Piskels (the Northshore house owners and our good friends) come with their daughter Lucy. So Anya will have two weeks with two of her closest friends and so will we. It will be amazing.
The week of testing is officially over. She slept for her EEG, she slept for her BAER and she didn't have any seizures under sedation and her eye surgery was a success (so far). It was an early morning to make to Children's by 6:30 am to check in for surgery. Everything went smoothly, she was sedated successfully without incident and the surgery itself took about 45 minutes. We were able to leave by 11 with a tired but calm baby. Here eyes are red on the inside corners and will stay that way for two weeks or so as they gradually heal. Our ophthalmologist likened it to a bruise that takes time to heal. She was cranky and uncomfortable the remainder of the day on Thursday but it was nothing a little Motrin and some good naps couldn't help. Her eyes look amazing! It was surreal to have her open her eyes and look up at me for the first time after she came out of surgery. It was like looking at another baby almost. We are hoping that this one surgery does the trick. 80% of the time one surgery is all it takes to adjust the problem. BUT kids with multiple disabilities are at an increased risk for multiple surgeries. At about the 6 week post-op mark we will have a pretty good idea whether she will be good to go or might need additional surgery down the road. Right now we are happy the surgery worked as far as we can tell and it went very smooth.
The following day Elin had her BAER hearing test. I successfully sleep deprived her and she slept for the hour and half they needed to get the results. This is an amazing feat considering the girl wakes up when I walk down the hall most the time and the audiologist was messing with ear buds in her ears and loud sounds were being played. Unfortunately the results were less then stellar. Elin's hearing loss has progressed- (meaning it got worse) in both ears. We aren't ruling out the possibility of fluid in her inner ear causing some of the drop but we aren't sure if that is the cause. This is another blow to us. We really thought Elin's hearing was the same if not better then originally predicted given her uncanny ability to hear everything when her aids are out. I guess she really does tap into those other senses more then we can fathom. At this point we are applying for candidacy for a cochlear implant. We don't know if her hearing loss is severe enough yet but if it continues to drop we will be looking at options beyond hearing aids to assist her.
This week we had our last visit from our speech and hearing specialist through Listen and Talk- Rebecca. She has been with us since Elin was first diagnosed with hearing loss and we will miss her. We have a new speech pathologist thought and she seems to be just good with Elin and equally educated so we are being transferred to good hands. Also our physical therapist had her baby and we are being assigned a new PT this week. Lots of change to deal with and it's tough since we have gotten to know these people quite intimately over the last 6-9 months.
I spoke to the neuro geneticist today and we are moving ahead with a SNP array genetic test. I would try to explain it but it is super confusing and complicated. Basically we can have three results- one tells us her genes look normal, one tells us there is definitely a gene abnormality and it is most likely the cause of her issues, or there are a few small abnormalities and Myles and I get tested to see if we have them too or if they are unique to Elin indicating they might be the cause of her issues. We have to get insurance pre-approval which can be tricky for genetic testing and then move forward. Most likely we won't have any answers for at lease two months.
During our week of interminable testing Anya was happily attending ballet camp for four hours every morning. She had a wonderful time and loves to show off her pirouettes and arabesques to anyone that asks. She got to wear a pink leotard, pink tights, pink ballet shoes and a tutu everyday. The theme was Cinderella and they danced, did art projects, and got to watch ballet videos. I swear it was her dream come true.
Elin turned 1 and the flood gates of testing burst- poor girl. She spent her birthday day at Children's too in a hearing loss clinic. Here's the update:
During the hearing loss clinic we attempted another behavioral hearing test and Elin couldn't do it yet. Again- going into the clinic I knew they were going to attempt the test and was 99% sure she wouldn't be ready to be conditioned. She just isn't developmentally ready for it yet. It didn't help that she was 2 hours past her normal nap time, sleepy, cranky and hungry. Needless to say it was over quickly and we move onto a non-sedated BAER this week.
I met with the geneticist again and found out what tests had been completed. I was interested to find out what tests we would be attempting next. Unfortunately there seemed to be some sort of miscommunication within the genetics department and I am still waiting for that answer. Hopefully we will be delving more into the neurogenetic realm now since we have eliminated many "normal" causes of genetic hearing loss.
Elin had her 1 year check up with our pediatrician and had two shots last Friday. This was the same day we had her little birthday party with the grandparents. She was a mess from the shots and didn't make a very happy birthday girl . That's what I get for having her party the same day I guess. She got a good nights sleep and was back to normal the next day.
Onto this week. We had a pre-op appointment with her ophthalmologist on Monday and her eye surgery is scheduled for Thursday. We have to be at Children's at 6:30am which is good since Elin can't eat anything in the morning. It should be a quick surgery with her out of the hospital mid day. The surgery itself is very routine and shouldn't cause much discomfort afterward. It is the sedation part that makes everyone nervous. Please send all your positive mojo our direction this week- we need happy healthy thoughts for a speedy operation and quick return to normalcy.
Today- we went to Children's and Elin had an EEG. This was at 8am which was a terrific time because she needed to fall asleep for it. I was skeptical about her really being able to sleep on command but she cried so hard when they attached all the stuff to her head that she passed out on me and the test went perfectly. We will get the results later and I will pass on the news at that time. At least I know they captured a good chunk of her brain activity while she was asleep which is exactly what they were looking for.
Finally- on Friday this week Elin has a non-sedated BAER (brainstem auditory evoked response). I tried to orchestrate the BAER test while she is sedated for the eye surgery but it was too last minute and an Audiologist is not available. Major bummer. This is the same test she had when she was 2 months old and her hearing has not been tested since. The kicker is she has to sleep for it. If memory serves- she had to return for 3 visits to get the whole data set AS AN INFANT because she wouldn't sleep long enough. Our goal (which is lofty and almost asinine) is to have her fall asleep at 1 on Friday for an hour and a half and test her the entire time. Hmmmm- we shall see how this goes.
So I can't wait until this week is over and hopefully we will be a few steps closer to a better picture inside her sweet little head.
Well we made it. One year ago Elin joined our family and changed our three lives in such a miraculous way. During her first year she has touched so many hearts. In some respects it feels like the longest year of my life and at other times it feels as if I just delivered her days ago. All I can say is that our lives are blessed and so much richer with the addition of our youngest daughter. We have a journey ahead and so many milestones to reach for; the future is limitless. We love you Elin- more than you will ever know! Happy Birthday sweet baby!
