8.9.16 Probably

Here is the probable scoop.

This past couple of weeks I have been in communication with the Genetics and Neurogenetics departments at Seattle Children's regarding DNA research testing done over the past 5 years for Aimee. This afternoon, I spoke with the Neurogenetics doctor that Aimee last met with in 2011.
(Click here to read the post about Aimee's previous appointment with this Neurogenetics Doctor)
(Click here to read the results of that brain MRI from 2011) Due to a clerical mistake, Aimee's DNA was entered twice for research testing. Both came back with the same results, which indicate a probable mutation, or change in the genetic code, at a well known epilepsy gene KCNQ2. The sequence change that they found in Aimee's DNA was one that had not been seen before. He said they have known about this gene, but only been researching it for a couple of years and that it takes about 10 for them to fully understand it. In particular, there is a fair amount of research for gene specific epilepsy treatments targeted to the particular protein involved.

Okay, so the bottom line is Aimee's DNA will go into a clinical lab for confirmation of this finding, but PROBABLY this is the answer. And possibly it will have treatment implications. We should have an answer from the lab in about 6 weeks time. We will meet with the Neurogenetics Doctor in November to discuss the implications of this finding in greater detail.

From what I understand so far, alterations in KCNQ2 refers specifically to an interference with potassium as is exits a cell through a pore in the cell membrane during a transmission of nerve signals. The nerve signal triggers this reaction where the channels open for sodium to come into the cell and for potassium, a positively charged ion, to go out. The interference with this reaction either stops or messes with the transmittable electrical signal. The range of delays and seizures is correlated to how much this process is dysfunctional. This epilepsy gene is particularly characterized by an onset of seizures between day 2-8 after birth, which... we couldn't say for sure if Aimee had seizures then, but looking back we may not have recognized them. As we didn't know that she had seizures until later, they did not consider this gene during earlier testing. Among other unknowns, it is unclear if the prolonged presence of seizures causes in increase in developmental delays or not.

At this point there are a lot of questions to ask and still more waiting to do. We will hopefully have more information and details to share through the coming months. Hopefully we will also have a clearer explanation regarding this gene than my phone call notes can provide. ;)

8.1.16 Yoda

When Aimee was in the hospital in December she was recommended by the staff as a canditate for Make-A-Wish. They submitted the request and we met with them in February to discuss what Aimee would like as a wish. We had a couple of ideas in mind, knowing that the most popular wish of a trip was not an option currently and wouldn't be Aimee's choice anyways. We narrowed our choices down to 2. Our top request was for a small dog, possibly an alert dog, but at least a companion dog that could sleep with Aimee and sit on her lap. We hoped a dog would provide her with comfort, help reduce anxiety, and just be a little friend. 

Saturday afternoon Aimee met and was matched with a dog through Brigadoon Service Dogs named Yoda. He is 5 lbs and a trained alert dog. He will go through ADA training/test with me as his handler at the end of August and come home with Aimee after that. 

7.18.16 Stellar Girl

We are just so impressed with Aimee. Not only does she have the most amazingly high pain tolerance, she just has the sweetest demeanor and best attitude while being poked and doctored. At this point, it has been 24 hours since she has any pain medication. She still has a high heart rate, particularly in the evenings, but she is in great spirits. We removed the bandages from her hips on Saturday night and her incisions look good.

Here is a little video of her with her brothers last night.

7.15.16 Recovery Update

Here it is.
All that fuss over some metal and screws.
Thankfully having it taken out was MUCH MUCH MUCH easier than having it placed.

Aimee's surgery day on Wednesday went really well. Her standard 3x as long to wake up from anesthesia and some apneas in recovery had our final nurse hesitant to let us drive her home. We felt confident seeing how well Aimee looked and knowing that our home monitors and machines would be very sufficient to care for her.

At home we have already been able to reduce her oxi dose down by half. She is quite alert and energetic even. The enima routine is definitely not going well. Her heart rate has gone up significantly today. We will remove the outer bandages tomorrow from both hips and see how the incisions look.

And maybe in a few more days we will get this girl back out in the sunshine where she can help me garden. 

7.12.16 Tomorrow's Surgery

Our DeVoe family had a photoshoot done this weekend with the talented Erin Cox Photography. Here are a few lovely shots for you before the details: 

We're checking Aimee in tomorrow afternoon for her second hip surgery, which will be to remove the hardware from each hip. This should be a much shorter surgery with much less bloodloss and a much shorter recovery. In fact, it should be a day procedure with no overnight stay. As always, no matter what type of proceedure, it is very scary to hand her over to the anesthesia team. The one time we can't be with her. 

A few prayer requests. First, for a smooth process throughout with no respiratory issues. Second, for a successful operation with no infections or complications. Third, for a manageable pain level and wisdom for how to manage her bowel "routine" afterward. 

As a side note, we are having a difficult time with that so called routine. Performing up to 4 enimas a day and having her spend up to 3 hours in the toilet chair. All this with sometimes no success and sometimes some. It is frustrating. 

Thank you for your thoughts and prayers tomorrow friends. 

6.23.16 A Little Love

Here to share a little love with you from Aimee.

This week she made it through a few clinic appointments. First, she was approved by the PASS clinic to go under anesthesia for her upcoming surgery in a few weeks. Her nutrition was reviewed and she met her weight gain goal exactly (6 grams on average per day). AND...more or less excitingly, depending on your perspective, her GI doctor came up with plans A, B, C, and D for Aimee the enima enigma. We are combining multiple types of enimas together in hopes of avoiding a surgical option, which may not even be successful in Aimee's case. If these plans don't work, the next step is adding a daily irrigation routine. Something new just in time. We were getting so bored. ;)

Much love to all our wonderful family and friends who follow Aimee.

6.9.16 The Game

These two cuties played a little game together for about 10 minutes last night. It was so precious to see. We put a ball under Aimee's hand and told her to hold on tight. She would lift her hand and it rolled down her leg and across the floor. Caleb would laugh delightedly as he chased the ball and brought it back. Aimee was bright eyed seeing him come back. She would grin as we put the ball back again under her hand. A special moment of two kids finding a way to play together. 

We met with Aimee's Neurodevelopmental doctor. It is nearly always a helpful appointment, because we can ask him any questions and he is willing to spend time responding thoughtfully. Most of our focus in this recent visit centered around growth, hormones, puberty, and looking ahead. 

We have been somewhat concerned as we think ahead to what size Aimee will be as an adult. Family history and her pattern thus far show her to be tall. We hope that her size will never prevent us from being able to care for her at home. We were imagining ourselves as we age attempting to care for Aimee at 5'11" and 180 lb. We discussed some options with him for using hormones to stunt longterm growth. 

This may sound terrible to you. It is often met with negativity from the general public, but we are honestly doing our best to consider the health of Aimee in the long run. Thankfully, Aimee's doctor encouraged us that because she is showing signs of puberty coming early that she will likely naturally cause this early growth spurt and stunt her own growth. Just to make sure, we will be tracking her bone age over this next year and decide accordingly what should be done. Any interventions through puberty will be made with deliberation on our part. We will have to consider steps that would typically horrify me... Except it is not possibly to just read books with Aimee and explain puberty, periods, appropriate touching, ect with her. We have to be unnatural and consider alterations to the norm. We will process these together and do our best to make the right decisions.

Yesterday, we met with a pediatric dentist. Aimee has varied teeth. Less than either of her brothers with some partially errupted, some worn away, and 5 loose teeth. The dentist encouraged us to continue to file and pull as we can at home. 

We have scheduled Aimee's follow up hip surgery to remove the hardware for mid July. This should be a much, much more simple procedure with only incissions to heal from. Should not require isolation, braces/casts, or 3 months of pain. :)