Elin gets an A+

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.

Testing, testing

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. 

The BIG 1

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!

13

Last week we reached the number 13. 13 seizures counting her first day of 5. That's a lot of action for such a short time. We have called 911 almost every time so we are quite friendly with our local fire department now.  Just yesterday Elin and I had another visit with Neurology. I had a lot of questions and was starting to feel like Children's wasn't doing enough to control her seizures and assist us in finding some reason behind her condition. After her appointment I feel much more supported and like we have a new plan to follow in regards to her seizures and research linking her multiple issues together.
Our Neurologist believes Elin has some underlying syndrome (yet to be discovered) that will tie all or most of her medical issues together. It would be nice to have a name for it and a possible prognosis but we are still trying to figure that part out.

Our plan now is trying to capture some more info via EEG and also to change up her meds again. We started Lamictal about a month ago and added it slowly. It seemed as we progressively increased her dose her seizures became more frequent.  With Lamictal there is a possible side effect of rash and Elin has had a rash off and on for two weeks. We think it is heat rash and not a medicine induced rash but we are abandoning Lamictal at this point. She remains on KEPPRA and we are adding Topamax. The side effects of this drug are general sedation, loss of motor control, and other icky stuff. So not the best in terms of side effects but hopefully it will help control her seizures a bit more. We have to add this medication slowly so it will take a while to see the effect.
Elin is having two types of seizures. One basically she doesn't come out and is precipitated by vomiting and the other she can snap out of but she usually stops breathing during the seizure. We use Diastat (a form of Valium) to stop the ones that she can't snap out of herself. Every time she has one it is scary and horrible. We are constantly on edge and anxious. They usually happen in the evening and are more likely when she is tired. We have added an extra dose of KEPPRA mid day in hopes of branching the meds in the middle of the day but she still had two last week after having her mid day KEPPRA dose. She remains unpredictable as always.

We are hoping to get her eyes fixed soon. The actual condition is called Esotropia Strabismus (that's fancy for eyes crossing) for all you Fancy Nancy fans. We need her to be a bit more stable so everyone feels more comfortable sedating her for the procedure. I'm really hoping the new medicine can balance her out a bit. We had a feeding specialist out this week to watch Elin eat. She eats like a champ- but it has to be pureed. She gave us some tricks to start using to get Elin to work her tongue side to side and encourage lateral movement and eventual chewing. She chokes on anything that is bite size- even melt-able puffs. The specialist informed me of a little mantra they say in the "eating instructor" world- "it starts in the hips and moves to the lips". Basically when Elin develops better gross motor control her chewing and swallowing will follow suit. UP HILL BATTLE - why not?


On to more positive news- she is rolling from her front to back without any help now. Great for development but not so much for sleeping. She falls asleep much easier on her stomach but now with her new found skill she can flip over and play on her back in her crib to her hearts content. Glorious! Sitting is coming along nicely. We can actually let go of her and she sits on her own for a few seconds before toppling over. She is finding her abdominal muscles and using them finally. Shoulder strength is still an issue we are working on. She doesn't like pushing through her arms and that skill is super important for weight shift and eventually crawling and pulling up. She is using the M sound more often and signs more and all done and has her own sign requesting Itsy Bitsy spider. She knows who mama and dada are and can track back and forth between us when we ask her to find us. She still lights up when Anya comes around and pays attention to her. Anya has started reading books to Elin which both girls benefit from greatly. Anya doesn't read per se but she has several books she can recite so they are great for sister reading time.

We try our best to maintain our normal lives as much as we can. Despite Elin's somewhat erratic seizure behavior we still trucked up to the Hood Canal cabin for the fourth of July. It is always a tough call but we want to live our lives as best we can and create positive family memories for Anya too. Finding balance in every sense of the word is our biggest challenge right now.

All About Anya

This blog is primarily to document Elin's life. However, I believe I need to spend at least one entire post updating everyone about Anya.

She turned 4 this past week. Anya is a ray of sunshine and full of all sorts of energy. She is bright, empathetic, athletic, enthusiastic, and kind. She is a true Gemini in every sense. She can easily transition between pretend play as a princess to acting out scenes from the Lion King. She will run away from flies but cuddle slugs and caterpillars. Her attitude can be amazingly compliant or frustratingly contrary. One thing is for certain- she is having a childhood full of adventure and filled with love.

Nearly a year ago Anya became a big sister. In this new role she has impressed me more than in any other aspect of her life. She shares willingly with her sister and genuinely loves Elin with her whole heart. Elin lights up when Anya comes around to give her a hug or play with her. They will be so good for each other.

As we have struggled with some pretty scary scenarios in our house, Anya has bravely watched on and quietly entertained herself when we needed to focus all our attention on Elin. She befriends the firefighters and medics that come to our home and helps to lighten the somber mood on occasion. I am so proud of her.
She celebrated her fourth birthday up at the cabin in Hood Canal with her family. She also had a joint birthday party with her friend Charlie at Seattle Gymnastics Academy. It was a great birthday week.

Pirate patch again

How is it possible to leave our appointments with more questions than answers every single time? This week Elin had a behavioral hearing test. It is the type of test where you sit in a sound proof room and they condition the child to look at a toy when he/she hears a sound. It usually works with babies that are at a developmental age of 9 months  Elin isn't there yet and knew that going into the test but it was still worth a try. It didn't work and even though I knew she wouldn't be able to do it, the fact she couldn't still felt like a slap across the face. When she was in the hospital they told us her myelin sheathing was at about a 3-4 month level. This means when she was 7 nearly 8 months old her developmental level was closer to a 4 month old. Now- watching her progress with her language and motor skills it all makes sense and she is about 4 months behind.



The importance of the behavioral hearing test is to measure Elin's perceived sound. These results are usually different from the BAER test results and give us a better idea of what Elin can actually hear. But we can't get the results of this test until Elin is developmentally ready to be conditioned to take the test. We have a hearing loss clinic follow up on Elin's birthday in late July and we will attempt the behavioral test again. If she still can't do it- we might have to sedate her and get a BAER result again so we can monitor her hearing loss. An
interesting question was raised during this process however. Since the only hearing tests we have been able to do with Elin are brain stem testing does her partial agenesis of her corpus collosum have any interference in the results. The answer is.... wait for it...... they DON"T know. So we told the audiologist that Elin seems to hear us fairly well without her hearing aids in. I cited some examples like- she always knows when we enter her room, she wakes up every morning with Myles (crazy early), Anya often wakes her up without creating too much racket, she understands what I tell her in the bath tub, etc. Given our observations, and the uncertainty that her hearing test are totally accurate, the audiologist "turned down" her hearing aids a little.
I have my fingers crossed that when Elin can take the behavioral hearing test we find out what her levels of hearing loss actually are and I so hope she can do it on her birthday.

The other appointment we had this week was with the ophthalmologist  He checks her eyes every 6 weeks or so to make sure they aren't weakening from the crossing issue. Last time all was fine, but this time he thinks her right eye is getting a bit "lazy" and letting her left eye become dominant. That's right folks- we are back to patching lefty to make righty stronger. This time Elin is older and lets us know she doesn't like her eye being patched. So much so she ripped the patch right off today (which is no small feet for her given her motor control issues). So this may be a long 6 weeks ahead of us.

The ophthalmologist is being cautious and prefers to do the eye surgery to correct the crossing while Elin has to be sedated for any other procedures  We had the green light on "no sedation necessary" from the neurologists and geneticists but now with the possibility of having to sedate her for a hearing test after she is 1 we will wait. He assures me that the crossing is not in fact adding to delay of her motor skills nor will it worsen with time. So we wait again and hopefully she can be developmentally ready and take the behavioral hearing test and we can skip the sedated hearing test altogether. If that's the case then we will move forward with Elin's eye surgery at that time. If not, we will try to coordinate the two procedures so she will only have to be sedated once. Phew- that's a lot of stuff for one week.

PT is going well. Elin's sitting is coming along but her tummy time still poses a problem. She doesn't want to be up on her elbows which is the only way you can really roll over your arm. She tries her darnedest to roll over her arms flayed back and at her side. One of these days, pure will is going to hoist her over that arm and she will just roll over the "wrong" way.

Elin had a high fever for nearly week and I took her to the doctor because she didn't have any accompanying symptoms  Sure enough after the doctor visit, Elin's fever broke and she broke out in a rash. Roseola- same thing Anya had when she was 9 months old. Oh yeah- Anya had a febrile seizure when she had her bout with Roseola so perhaps Elin's anti seizure meds helped her avoid that scary seizure.

When the weather was nice we all had some lovely days outside. Elin took to sitting in the lady bug chair and napping under the sun umbrella. She also had a lot of time with family enjoying the outdoors.

Making Lemonade

We've been handed a few lemons this year BUT with a baby as sweet as Elin we can only make lemonade. She is such a love- I can't even explain. You really have to experience her to understand. She is so generous in her joy it is infectious. When you hold Elin and she looks into your eyes, you know she is connecting with you. I can't express how special her gummy grin makes me feel. We are the lucky ones and I know it every time I hold my baby girl. Whatever lemons this universe has in store for us down the road cannot possibly sour my love for her. I'm a goner and she has a firm grasp on my heart.