Sedated BAER

After 6 months and countless visits to Seattle Children's for behavioral hearing tests we decided to get some solid results by conducting another BAER test on Elin. Now that she is older she needed to be sedated for the procedure since kids her age don't simply sleep through them anymore. As with any anesthetic procedure we run a risk of causing Elin to seize. So we were attempting to gather as many results from behavioral testing leaving the sedated BAER as our last option.

Unfortunately, Elin didn't like being compliant in the sound booth and playing the 'conditioning game" in order to get reliable results. On some occasions she would be conditioned and we could gather some information but she didn't last long so we would have to quit and come back again. It was hit and miss with her- sometimes she would cooperate and sometimes not. After her last failed attempt we threw in the towel and decided to schedule her for a sedated BAER.

At this point we were getting antsy to find out whether or not Elin would indeed fit the category for a cochlear implant. We have been to all the preliminary appointments and she has had all the speech/language testing done. All we were waiting for was the results of her behavioral hearing test.

This past Friday Elin underwent her third BAER test and we have the results.  The sedation went very smoothly and she didn't have any scary side effects. She was under for a little over 2 hours and the audiologist conducting the BAER got a full set of results so we now have a clear picture into how her brain is registering sound. It would be nice to have the behavioral piece as well to round out what Elin actually hears using her aids and with out them, but for now this will have to do.

 Her hearing loss has progressed (meaning it has gotten worse). Her hearing loss in her right ear is now considered severe to profound and her left is severe. So basically the hearing aid on her right side isn't doing much good now. It is amplifying the sounds but Elin's cochlea is not able to detect specific speech sounds so it isn't really benefiting her in any way. Ironically, Elin has been removing her right hearing aid every chance she gets. I can't have it on her in the car or she ends up yanking it out and chewing on it. Obviously this is a safety hazard not to mention an incredibly expensive teething toy. I have been using her FM system religiously. This is device that helps Elin hear my voice from a distance. I attach little "shoes" to the bottom of her hearing aid that act as receivers. I then wear a microphone and no matter where I am in the house she can hear my voice as if I am 6 inches from her ears. It is a very cool tool to have and is used in classroom settings for kids with hearing loss all the time. The self directed hearing aid removal corresponded to my increased use of the FM. Perhaps she takes it out because it isn't doing much
good, or perhaps she is tired of hearing my voice inside her head 24/7. Who knows?

So where do we go from here? The results will be sent to the CI  (cochlear implant) team and they will meet and decide if Elin is indeed a cochlear implant candidate. From the looks of it she most definitely will be. Then we have to make a few crucial decisions:
1. Do we want her to undergo the surgery and have a cochlear implant. ( YES )
2. Which manufacturer do we choose? We have three different choices of implants and all have advantages and disadvantages.
3. When do we have it done and do we have the emotional wherewithal to endure another risky and invasive procedure?

I'll keep you posted.

BUT in brighter news- Elin is belly crawling!

She is now 20 months old and can make it several feet across the floor (without rolling) to get into stuff. Basically the only things so far that are motivating enough are her binkies and her sister's stuff. There are some advantages to having a child with motor delay- one is, selfishly, I don't have to worry about her getting into trouble or chase her around the house. I fear those days are about to end but I am so very glad she is on the move.

She has also started feeding herself almost exclusively She loves to shove as much as possible into her mouth and seems to be quite proud of herself. It's much easier to just stick a few pieces of banana on her tray instead having to mash it up and feed it to her all the time. She and I were ready for the self-feeding phase.

Lastly- we attended the Kindering Auction about a month ago. It was a wonderful night and we had many friends and family members join us. They raised a record breaking $575,000! The video they created that Elin and I were featured in turned out fantastic and I didn't end up sounding like a blubbering, rambling idiot as I feared. I'm not allowed to upload or share the video however. They show it again at the fall luncheon and want to keep it a surprise for that event. So if you really want to see it before October, you have to come to my house and I can show it to you.

RSV(p) Seattle Children's Hospital

Elin had a seizure about a month ago when she had a fever from an ear infection. It was the first one she had had since July when we started her on Topamax. Myles and I were disheartened to realize:
1. She had not outgrown her seizures
2. The Topamax didn't control them completely
3. Fevers increase the likelihood of seizures
4. It didn't stop on its own and we had to use Diastat
We didn't call 911 because we were able to control it once the Diastat was administered and she seemed to bounce back OK.

Fast forward to this Friday. Elin started to come down with a cold on Thursday and developed a fever. Thursday night she and I both were up most the night. She was uncomfortable and I was worried about her having a seizure due to her fever.  Friday morning my mom came over to watch the girls while I taught class. I did express my concern about the possibility of Elin having a seizure because of her fever and my mom was nervous but prepared.

Well it happened and my mom did amazing. While I was at class Elin stopped breathing and my mom had to administer rescue breaths and call 911. The 911 dispatcher told my mom NOT to give Elin the Diastat even though my mom had it ready to go. Of course she listened to the professional on the phone and did as they advised. I arrived home as the medic car was leaving for the hospital. In my brief conversation with my mom she was visibly shaken but was able to tell me a little bit about the episode before I climbed into the aid car.

Elin was still seizing even after two doses of Diastat. By the time we reached the hospital she had stopped breathing on her own in the aid car and was still seizing. She was stuck in status epilepticus. We were rushed in and had at least 15-20 doctors and nurses waiting for us to arrive and they quickly started care. Elin wasn't breathing well on her own so they began bagging her and giving her supplemental oxygen. She was almost intubated but thankfully stopped seizing and began breathing just in time.

We were not as fortunate with the IV however.  Because they needed immediate access they had to insert an IO (that's an IV into the tibia). They drilled a hole in her leg into her bone. When I saw what was happening I almost screamed.  Elin has dealt with so many horribly painful things but watching them drill a hole in her body with out any anesthesia was almost more than I could bear.  By the time Elin finally came out of her seizure she had been given 10mg of Diastat and midazolam. That is a whole lot of Valium for one small body. They established an IV in her foot so thankfully they didn't have to use the IO.  We waited in the ER until we were admitted to the hospital at 6 pm. They ran many labs and various tests to check all sorts of levels of oxygen, electrolytes, sodium etc and they checked for viruses as well.

So in a period of about 1 hour I watched my child seize without rest, stop breathing on her own, have a hole drilled into the bone of her leg, be poked in every hand and foot for a possible IV point, had a catheter inserted and removed, had tubes stuck down her throat and in her nose, and watched the facial expressions of trained medical staff look frightened and alarmed at her inability to breath and stop seizing. Horrifying doesn't even begin to describe it. Myles arrived as she was coming out of her seizure and his presence was a god send.

Elin slept most the day recovering from her horrible ordeal and due to the effects of the Valium. Before leaving the ER her test for RSV came back positive. This was most likely the cause of her illness, fever, and subsequent seizure. Once in the medical unit we were relieved to have a place to stay the night that could monitor her oxygen and pulse. We had our own room as well which was nice. We found out a little later the reason we had our own room was because we were in isolation because of Elin's case of RSV. This is a very contagious respiratory virus and is very dangerous for babies and young kids. Every person who entered our room had to wear a mask and a gown. We weren't allowed to use any of the common areas. These are the places they have tables, refrigerators, microwaves, dishes, TV's, computers etc. Everything we brought in to our room was considered "contaminated' and couldn't be heated up or stored in a fridge. This made it hard to have food in our room for four days but we managed.  We were hostages in our room, however we really didn't want to go anywhere anyway and just wanted to stay by Elin's side day and night. The first night was terrible. I'm not sure if it was the residual effects of the medication or a combination of factors but Elin DID NOT SLEEP Friday night. Myles and I were up the entire night. We got to know our night nurse way too well.

Anya couldn't visit at all and she bounced around from my parents to home with Myles while I stayed with Elin.  We thought we would only be there one night but on Saturday morning they told us they wanted to continue to monitor her because she had had such a horrible seizure and she was still feverish. I escaped for a quick trip to spend some time with Anya and returned to stay the night at the hospital while Myles took Anya home for the night. On Saturday night Elin slept much better but she had a high fever spike at 4am- over 102.5. When the day nurse came in and mentioned how he was concerned with the fever spike I knew we weren't going anywhere yet. Sure enough the doctors came later that morning and we were told to stay for the afternoon and some one would check back in with us before night. Well no one ever did and we found out at 5:30 pm that we were not going home yet again. Myles went home with Anya and we had Susie come up so Myles could go to work in the morning. Elin and I had our best night of sleep on Sunday night and come Monday morning she was happy and bubbly (for a sick kid).

They were concerned with her fluid intake so I started feeding her less solid food and giving her more milk and water because I was worried they would keep me there another night. Thankfully she smiled enough through her hacking cough and snotty wheezes to get discharged. We returned home at 1 on Monday.
Anya was so excited to see Elin she didn't stop hugging her for several minutes. Elin returned the love with coos and pats for her sister. We are so happy to be home.

Why was this seizure so bad? If she had been given the Diastat like usual would it have stopped it or perhaps was this a different kind altogether? Why would the 911 dispatcher instruct my mom not to give my child the seizure stopping medication that is prescribed to her and part of her seizure plan? I plan to call 911 at my neurologists' prompting and ask them what reasoning they have for the advice they gave.





As much as I love Seattle Children's hospital it is the last place you ever want to have to spend time with your child.

Belle of the Ball

HAPPY NEW YEAR!!!!

Here's to 2014 being full of love and less surprises!

The holidays came and went and our family had a wonderful time. Anya had two weeks off school (having her home went smoothly- thank god!) and Elin had two weeks off of therapies. We were able to relax and spend some quality time together. It seems like we spend a majority of our time in the car driving to and from preschool or other events for Anya and to all of Elin's appointments. So it was very nice to have a break from all the rushed exits.

Elin has added another therapy to her repertoire. She started OT this week. Basically the therapist and I just play with her and get her to use her hands in specific ways and play certain kinds of games to stimulate her cognitively and to improve her fine motor skills.

Elin had a major accomplishment over the holiday break. She was able to condition for the behavioral hearing test and we got some solid results. It was very exciting to see her "play the game" and turn her head when she heard the sound. We are going back in for more testing on Monday and (fingers crossed) if we get the rest of the results we might be able to move forward with making a decision about a cochlear implant. So far the tests have shown her to have good low frequency hearing aided and unaided (that means with her hearing aids on and off). The risk with a cochlear implant can be that the child loses their low frequency hearing. Why does there always have to be a down side? So depending on the results of her test we might have a difficult decision on our hands.

One more important note. Elin receives a majority of her services (therapies) through an organization on the Eastside called Kindering. We have had such a wonderful and positive experience with this organization I can't even begin to explain how much support we have needed and received from them. Kindering holds an annual Gala and auction and this year it is March 1st. Kindering approached me and asked if Elin and I could be featured in the "inspirational" video they show at the Gala. I was humbled by the request and of course agreed. They plan to tape an interview with me and a therapy session with Elin and connect our story with another Kindering graduate who is out in the workforce at the age of 21. The hardest part for me is going to be not to cry during the entire interview. Thankfully they do LOTS of editing so the sobs should be tempered a bit.

My parents have purchased a table and have invited 100 of their closest friends so they now have a dilemma on their hands since there are only 10 seats. If anyone else is interested in knowing more about the event just email or call me. I would be happy to point you in the right direction. Tickets are selling fast and they expect them to sell out within the next week or two. Here is the link if you want to know more.
http://www.kindering.org/getinvolved/events/auction/

The Gift

In some ways having a child with special needs has been the most difficult challenge either Myles or I have ever faced. Beyond all the emotional ups and downs, we have a grueling schedule of appointments, therapy sessions, and assessments. Every child comes with their own unique set of needs, it's just that in Elin's case hers requires a bit more "work."  BUT despite all the hardships and worry having a child like Elin brings; the person she is becoming eclipses all the negativity.










On our annual daddy/daughter dinner date the other night, my dad said something to me I will never forget. He said that Elin is a gift to our whole family. There is no better way I can think to describe exactly how we feel about her. She is our gift, and the best one we have ever received. She brightens our days (and nights still occasionally) with her constant smile and insatiable sense of wonder.

So in the true spirit of Christmas I wanted to share just exactly how lucky we feel to have such a special person bless our family. Hug your kids because every child is a gift and sometimes it takes a special time of year to remind us all just how lucky we are.

Merry Christmas.

The missing link......

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.

Aloha

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.

Going cochlear

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.