9.28.16 Back At It

Back from a midwest whirlwind weekend and feeling more whole than before. It was good to be in that old place and reconnect with a time before. 

And now we're back at it. Spent time in clinic this morning to get new AFOs fitted, to have a bone age x-ray done, and to meet with Neurodevelopmental. 

Aimee finished the day with a heart-to-heart chat with her Daddy. 

9.23.16 Life Update

Excuse the long delay on updating all of you on Aimee's life. This past couple of weeks have included several appointments and the start of a new school year. 

A bit of a rocky start to 2nd grade with a few bad days in already due to a severe 8 minute apnea just prior to school, some seizures, and a missed meal. Hopefully next week we will get things right and consistent again for Aimee's sake. 

Yoda has started coming to appointments with us, which so far has gone well.

No changes with Aimee's sleep clinic appointment, though we are considering requesting sleep medication for her. She has a difficult time keeping track of night and day recently, which means midnight dancing and afternoon snoozing. For Aimee. Not me. 

We met with Aimee's Ortho doctor who originally corrected her club feet. Due to Aimee's surgeries and me not being convinced they were doing anything, we haven't been using Aimee's AFO braces. And... I was wrong. She has lost 15 degrees of movement. So back to bracing, though only 12 hours a day. 

At her GI clinic appointment it was decided that it is time try using an irrigation enima system as we are having a difficult time still. This is basically multiple saline colon flushes. It might work. 

And, as we speak, I am sitting at Sea-Tac airport waiting to board a flight back for the Hillsdale College Homecoming. This is a big deal. Praying for a peaceful, smooth weekend for Ed with the kids. He will have help, but it is a heavy load for him to carry. On my way! 

8.29.16 Public Access Official

The tedious task of training is done. It was a long week up in Bellingham at Brigadoon Service Dogs.

Saturday Yoda and I officially passed the test for public access and he earned his vest. 

As a special treat, my two nieces and I took Aimee out to get her first make-up, gave her a little make over, and took some pictures at the park. 

Now comes the road of allowing Yoda and Aimee to bond and teaching him to alert to seizures and apneas. Here they are at church together yesterday. Bonding in a nap.

8.19.16 Bringing Home Yoda

Aside from a short time stuck on the side of the road again in the hot weather (Thank you vapor-lock prone van), we had a successful retrieval of Yoda. He is here to learn that Aimee is his new job before we begin the ADA training on Monday. More to come. 

Napping together already.

8.18.16 The Right to Bitterness

Aimee and I sat in the cafeteria at Children’s between appointments this last week. We both were eating lunch. She having a bolus of Liquid Hope while snoozing. Me eating the decent cafeteria fare available while reading a book on my kindle. It was a longer break than normal. 

We have a normal here. We are regular visitors with semi permanent passes that we only have to renew 4 times a year. We have our favorite parking spot. We have our favored route and enjoy chatting with the employees that we see when we are here. We know which clinics will be comfortable to change diapers in and which we have to visit the 7th floor bathroom that has a hi lo table to use beforehand. We are regulars. 

Yet, this visit, following the news of Aimee’s research results, I was repulsed by this place. The wounds have been aching freshly. It is all raw. All I can think and feel is the pain of the beginning. Like we’re starting the journey all over again. I hate it. I don’t want to be on this journey. I don’t want Aimee to be here. I don’t ever want to be at this hospital again. Sitting here with these people. All of us undeservedly here. All of our children undeservedly here. None of us belong here. 

There is pain. Sometimes anger. A lot of awkward moments. Questions from typical kids. Sideways glances from adults. So many people who don’t know how to talk to us anymore. So many moments when I don’t know how to talk to them either. Them. With their daughters and sons. Them with their lofty parenting ideals. Them with intact dreams. Them. 

Bitterness.

The pain in life is real. We all have pain in the living of it. The overwhelming stresses and the undeserved suffering. There is certainly no health in denying the hurt and struggle. But can we be honest without being bitter? Can I? 

Bitterness is a lonely place. We have a right to be bitter perhaps. Bitter for our losses, our betrayals, our health, our lot. BUT we are given a choice. Even while justified in anger and hurt, we get to choose between spite and graciousness. Between malice and tenderness. You and I, we get the constant choice to lay aside bitterness and seek after the gift of hope instead.

“I pray that from his glorious, unlimited resources he will empower you with inner strength through his Spirit. Then Christ will make his home in your hearts as you trust in him. Your roots will grow down into God’s love and keep you strong. And may you have the power to understand, as all God’s people should, how wide, how long, how high, and how deep his love is. May you experience the love of Christ, though it is too great to understand fully. Then you will be made complete with all the fullness of life and power that comes from God.”

Ephesians 3:16-19

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.