Christmas Photos

I know...2 months late but better late than never at this point.


Claire was awake Christmas Eve. We so enjoyed our daughter being able to interact with us!





Daddy's girl. :)


Adoring my beautiful Claire. We dressed her up and took her to sit on Santa's lap.



About 23 weeks pregnant with our little boy...Tristan. Expected arrival date will be mid April 2011.

Update...Feb. 23

Claire is making some progress, though we are not without the occasional setback. Last week was rough as Claire went into a trend of having a 3-20 minute seizure every half hour with no awake time. We adjusted her meds on Monday and the turnaround was immediate. She has had long stretches of awake time the past couple of days and has been interactive in her therapy sessions.

We are encouraged by her slow progress. The muscles in her shoulders are getting stronger and we have very surprising moments of interactivity. Over the weekend, my Dad stayed with us. The weekend was pretty rough until Monday night when Claire suddenly got a case of the giggles. It was a treat for my Dad and quickly brought Rebecca and I to tears of joy--as it typically does. Rebecca tells me Claire has had several more fits of giggling since I've been out of town. We keep trying to capture that on video, but have yet to manage a well timed recording.

Claire began swimming pool therapy this week. This was an enjoyable session and appears to be an effective exercise format for her in addition to regular therapy.

A few weeks ago Claire had a vision test and was diagnosed with a Cortical Visual Impairment--this basically means that her brain struggles to decipher the visual world. We knew this already, but we hope her vision will in improve as she gets regular awake time and becomes more interactive with the world around her.

For those of you who have children with seizures or mitochondrial disorders, I would like to encourage you with some things that, strictly speaking, are not scientifically recognized. With Claire, we know that a high level of protein and regular bowel movements are key elements to her seizure control. There hasn't been many studies completed on this (likely because these treatment forms would be too cheap for anybody to wish investing research in to gain future profits). Honestly, I am not trying to be cynical about this, but the there are too few people in the fields of Neurology and Metabolic Genetics for them to go beyond profitable research and stem into practical research. That said, diet, therapy, and the monitoring of gastrointestinal activity really do help and can be confirmed by researching the many blogs of parents in similar circumstances.

A great lesson from our experience is that medicine should be personalized. Different people react to different drugs, treatments, and diets in different ways. This probably seems obvious. But the medical community is often blind to this and try to place blanket diagnoses, prognoses, and treatments. Push your politicians to repeal HIPA laws. That will allow developers of data analysis software to attack this problem on a large scale. Google has software in the works and so does IBM with their "Watson" computer-- they just need access to the large amount of data out there. Medical privacy is highly overrated and is just a way for Pharmaceuticals to block data that would reveal serious negative side effects of their products.

Meanwhile, never be complacent or inflexible. There is always hope. One day, our daughter will stand as living testimony to that. Thank you for your continued prayers.

Our short 2 month catch up...

First off, let me apologize for being so delayed in writing you an update. In truth, since my last post in October, we have gone through a very monotonous trend of altering Claire’s drugs, followed by some improvement, a steady decline, then an adjustment of drugs again after two weeks. That effectively sums the last two months.

Beyond that, we have tried to incorporate development therapy into the times Claire is conscience enough to interact with us. These times are infrequent and cyclical. On average we get 5 hours of awake time for Claire every other day. If this doesn’t sound like much, its not. But we cherish every moment we get. Claire will be spoon fed during those times and exercise. Most recently we’ve worked her on rolling over and strengthening her neck so she gains head control. We have actually seen some strides in these areas. Claire is slightly more mobile on her own now—we now have to watch her so she doesn’t scoot her way off the Ottoman.

She is growing fast—slightly ahead of clothing sizes. We also just upgraded her to a toddler car seat. We find that our “don’t fit” box is very full and her dresser is getting light quickly.

We have a consultation with Metobolics at OHSU on December 28. We are working on Claire’s Mitococktail—a milkshake of suppliments to aid her Mitochondrial deficiencies. We have steadily added suppliments over the past couple months. The Neurology Doctor will also be present at the consult. To be honest, I don’t know what to expect from the visit, but I do know that the Doctors at OHSU have discussed Claire frequently.

Update, Oct. 26

I know there hasn't been a whole lot of updating going on and I do apologize. In our day to day goings on I forget to stop and report what is happening because it all seems so status quo. Since coming home from Doernbecher this last trip I would say that Claire has had some slight improvement. Claire is able to wake up most every day for at least a few hours. We continue to work on feeding her new foods and playing with her as much as possible. Claire's seizure activity has changed yet again and it is difficult to say what has caused the change. Claire is having fewer seizures per day, but on the flip side when she does seize it seems to last between 1 and 2 hours. Thankfully these long seizures are not actually harmful to Claire. Our little girl is strong and can keep her airways clear and breaths well through these episodes.

In our previous post we stated Claire would be started on a "myto cocktail" but when all was said and done the metabolic specialist wanted to start Claire on one supplement at a time so we can more easily pin point what is actually working. Claire is currently taking Creatine twice a day to help with her severe lack of energy. Though we don't know if it has helped her seizures at all, Claire is much more alert and "with it" when she is awake and the creatine is helping her motor control a bit.

On Nov. 1, we will have a therapist out to the house to show us the exercises they would like us to do with Claire to help strengthen her muscles and help her gain head control. Though the therapist will only visit us 2 times a month...you can rest assured Jake and I will work with Claire every waking opportunity we get. Claire is currently trying to move her head more than ever, but lacks the strength to control the movements.

We are again consulting with the neurologist in Portland to see if there is any tweaking of Claire's meds that can be done to help reduce the length of her current seizures. We will as always try to post updates.

On a side note...baby number 2 is cooking along. :) I am now 15 weeks into this pregnancy and so far so good. I am healthy and we have seen the baby's heartbeat @ 11 weeks and heard the heartbeat last Friday. We are scheduled for the "big" ultrasound on Nov. 24...the day before Thanksgiving. Believe me when I say though times are more challenging than we would like...we have much to be thankful for this year.

Oh...one other quick praise report...we are receiving explanation of benefits from the insurance and the coverage they provided Claire while we were in Denver was outstanding. We thought for sure we would owe bunches of money....but so far we only owe $29.75...Praise God!!!

Claire tries Sweet Potatoes

A few days ago Claire got to try sweet potatoes. Much to my surprise, Claire never developed a liking for the potatoes and seemed to much prefer the squash. Our next adventure will be carrots...and of course there will be video of that too.

Test Results, October 13

Knock on wood, this actually looks like a short stay in Doernbecher's. Claire has had relatively few seizures over the past 24 hours. It is difficult to say whether this is due to a Phenobarbital loading dose or due her Phenytoin level dropping rapidly. At any rate, she has been able to eat by mouth and has had some rare awake time.

This morning, Dr. Roberts (the primary Epileptologist) came in and informed us of test results from the muscle and liver biopsies. Claire has what is called a Mitochondria Complex III Disorder. This will likely end up leading to a diagnosis in the Mitochondrial Myopathies family of diseases. You may find some helpful information on www.mitoaction.org. Rebecca and I see this as a positive development. Mitochondrial Disorders are treatable with what's called a Mito-Cocktail--a highly concentrated mix of vitamins, proteins, and antioxidants. The Metabolic team is currently working on formulating Claire's Mito-Cocktail. There is no certainty that this will impact Claire's Epilepsy. We have to operate under the assumption that we will still have to manage her with anti-convulsants.

We have weaned Claire off of Phenobarbital and have now dropped Phenytoin as well. This will allow us to use these drugs as back-up rescue meds when Claire's seizures get out of control as they did on Monday. We are adding a new drug called Vimpat. This is a newer drug that has fewer side-effects than some of the drugs that Claire has already been on. It is not approved for children, but that is not unusual in drugs used to treat rare diseases.

So long as the Metabolic Department is timely with their Mito-Cocktail and there are no complications from adjusting Claire's meds, we expect to be released on Friday. Please continue your prayers for Claire--that she responds well to the new treatments and begins the process of healing and developing as she should.

Jake

Video of Claire's first cereal

Claire is loving her cereal. When she is not awake enough to eat by spoon, we add rice to her formula and she eats it right down. Getting permission to feed Claire baby food was a big win for me (Rebecca). It is nice to see Claire learn an age appropriate skill and allows for a little normalcy in our lives. I have started thickening the cereal and Claire is tolerating the thicker cereal just as well. Up next in another week will be oatmeal. Once we've tried oatmeal for a couple of weeks we'll get to add veggies. Thank you for your continued prayers and for following all of Claire's milestones with us!!