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.