Saturday, March 31, 2012

Sick Country Bear

Caroline's sensory issues and apraxia complicates her colds. Even a minor cold can induce gagging, vomiting, more frequent/intense involuntary movements, and sleepless nights. Caroline is prone to getting congested, but she often recovers fairly quickly.

For safety, she usually spends the night in our bed when she is sick. We fear that she'll vomit and choke in her sleep. Also, we've read that fevers can sometimes trigger seizures. Nobody really gets a good night's sleep, but at least we have peace of mind.

Today, we spent the day snuggling with our little "country bear" (as Mike has called her since she was a newborn, after the Disney ride). We spoiled her a little more than usual too. Caroline had cheesecake for the first time...and she LOVED it!

Friday, March 30, 2012

Caroline and her "da"

At this point, Caroline has only one word left that she uses consistently. "Da."

Watching Mike and Caroline makes my heart smile.

Friday, March 23, 2012

Raising awareness by telling Caroline's story

A few months ago, I was approached by First Five Santa Clara County to tell Caroline's story as a way to highlight the importance of early diagnosis in disabilities.

In our case, Caroline's Rett Syndrome diagnosis enabled us to educate ourselves and reach out to all appropriate resources to better meet her needs. Our family knows first hand the impact that early intervention can have on the development and quality of life of a child with developmental delays or permanent disabilities. As we've observed in Caroline and other children with special needs, we can significantly expand a child’s horizons through targeted therapies, individualized education, and quality medical care.

Caroline's story is featured in the First Five Santa Clara County website (click here) and in the newsletter below on pages 6-7. 

Thursday, March 22, 2012

Very exciting news for Rett Syndrome Research!

Hope for Caroline's Future!
Written by Marta 

This past week, researchers published a study in Nature, demonstrating the possibility of alleviating Rett Syndrome symptoms in mice through experiments with bone marrow transplants! This research was made possible with funding from Rett Syndrome Research Trust and the Rett Syndrome Research Trust UK.

I would like to take a moment to thank all the advocates and research scientists who work hard every single day to give girls like Caroline a better quality of life...a life without seizures, heart problems, apraxia, g-tubes, scoliosis, breathing abnormalities, issues with chewing and swallowing, and other medical complications. Thank you again to our friends and family who've made donations to Girl Power to Cure (Rett Syndrome Research Trust) and the International Rett Syndrome Foundation.

On that note, my sister and I will be running the 2013 Disney Princess Half Marathon with the Girl Power to Cure Team. I will post more information about sponsorship in a couple of months when we officially register for the race. The Girl Power to Cure Team will raise funds for Rett Syndrome Research Trust (note: 95% of donations will go directly to research programs to find treatments). It is possible that treatments to alleviate Rett Syndrome symptoms could be developed in Caroline's lifetime.

Explanation of Study Findings 

Written by Mike

Now for a brief explanation of my understanding of the science. The researchers replicated Rett Syndrome in male mice (as a model) by artificially depriving them of the MECP2 protein at a molecular level in the body. These mice were irradiated at 4 weeks of age, at the early onset of dysfunction. This serves the function of clearing the body of all fast-reproducing cells (similar to a chemotherapy cancer treatment). This includes immune cells - some of which, as we will see, have been implicated by this study as associated with Rett Syndrome and MECP2-derived dysfunction in the brain.

Next, the affected mice received a bone marrow transplant from a healthy mouse. The new bone marrow contributes to repopulation of the affected mouse with new red blood cells, new white blood cells, and new brain cells called microglia. A few weeks after the transplant, the affected mice showed vast improvements in behavior, including significant increase in lifespan.

Researchers had also treated the bone marrow transplants with a fluorescent protein marker. This allowed observation of the pathways of the functioning MECP2 immune cells throughout the body of the mouse. Most significantly, new fluorescent microglia were observed repopulating the brain. These microglia are known to perform critical immune functions in the brain, including breakdown of cell debris and other foreign particles that otherwise accumulate over time. These particles appear to build up in the brain tissue of MECP2 deficient individuals such as girls with Rett Syndrome.

Researchers next recorded the same set of observations in female mice test subjects. The researchers also performed an additional experiment to attempt to control for other contributors. In this final experiment, mice who were MECP2 deficient were again treated with irradiation and a bone marrow transplant. These mice now had functional MECP2 genes in their immune cells only. Just like in the first test, they showed the same improvements in behavior and health. To improve confidence microglia hypothesis, the researchers then injected a drug that disables immune cells in the body off these mice, including the microglia. As debris built up on the brain, Rett Syndrome symptoms reappeared over time. Interestingly, this build up over time may account for the delayed appearance of symptoms in affected girls (usually not appearing until between 6-18 months of age).

What this all means is that irradiation followed by bone marrow transplant may be a viable therapeutic approach to lowering the impact or severity of the symptoms of Rett Syndrome in humans. While we are years away from human trials, this is nonetheless encouraging news for everyone affected by Rett Syndrome. 

Monday, March 12, 2012

Trying out an awesome Gait Trainer!

After trying out 3 different Gait Trainers this past year, I think we finally found the right one! We are currently borrowing the Kid Walk (click here for a demo video) before ordering it. I've never been this excited about an adaptive equipment!

We feel Caroline may initiate her first step with this one... 

Sunday, March 11, 2012

Switch Toys

Today, Caroline got an adaptive desk and a couple of "switch toys" from an awesome Rett family whose daughter had outgrown them. Can I just take a moment to mention again how much I love my fellow Rett moms? They are awesome, knowledgeable, helpful, and generous in every way. Having them in my life has been a real lifeline.

Switch toys are intended to help children with disabilities learn cause/effect relationships. They also promote motor and cognitive development. For children with better fine motor control, the skills they gain from the toys can be later applied to more advanced assistive communication and educational devices.

Caroline has been wearing arm braces since last September. The braces have made a huge difference in her ability to control her arms and hands. The braces interrupt the involuntary repetitive hand movements and return some function of arm use. Caroline can reach out and at least touch her toys (and us) for a few seconds. Without the braces, her hands would be in her mouth or wringing at a mid-line point.

Here's a video of Caroline enjoying her new toys on her cool new desk!

Saturday, March 10, 2012

A little insight into parenting a child with special needs

I came across this heartfelt blog post on what it can feel like to parent a child with special needs. I've read a number of similar articles this past year, but this particular one was written with a level of sensitivity and honesty that really spoke to my heart. It gives an insight into inner thoughts and feelings a lot of us "special needs parents" share but don't say out loud. 

From the Huffington Post
By Maria Lin 

Raising a child with any disorder, condition or special need, is both a blessing and a challenge. A challenge for the obvious reasons, and a blessing because you don't know the depths of victory until you see your child overcoming some of those challenges.  (to continue reading, click here)

Wednesday, March 7, 2012

The "R" word

There are many words to describe Caroline...

Smart. Bright. Sweet. Funny. Loving. Curious. 
Happy. Determined. Hard-working. Awesome. 

"Retarded" is not one of them.

Today, March 7th, is Spread the Word to End the Word Day. The words "retard" or "retarded" are dehumanizing and hurtful. These words may seem harmless, but they perpetuate a negative stigma against individuals like Caroline. Let's think twice before we use them next time.

Please help me spread the word to end the word.

Here's a great article on CNN: Ending the R-word: Ban it or understand it?

Monday, March 5, 2012

Sitting up for the first time!

This weekend, Caroline sat up by herself for the first time ever!! She's unable to use her hands so she did it the hard way--by using her abs. Take THAT, Rett Syndrome!

She's been working on this skill for over a year. Two months ago, she showed signs that she was very close to coming to a seated position on her own. Go Caroline!!!

Friday, March 2, 2012

Adaptive Equipment

Today, I took the day off from work to get Caroline fitted for a wheelchair (aka "adaptive stroller"), a bath chair, and a gait trainer. The adaptive equipment specialist and Caroline' physical therapist spent a couple of hours with us. We discussed the various options before we decided on the most appropriate ones for her.

I was actually happy to start the process of getting Caroline these much needed adaptive devices. Bathing her is becoming a real challenge. She is unable to safely sit unassisted in a tub filled with water, and she outgrew her baby bathtub over a year ago. Also, her regular stroller does not offer her proper support. She slides down and/or slumps over. More importantly, she needs a wheelchair that can be secured to a school bus. And we need a gait trainer that encourages her to initiate steps on her own. The one we borrowed from Early Intervention Services is too restrictive and seems to cause some discomfort under her arms. Finding the right gait trainer has not been easy so far, but I think we are close.

Caroline will get the Convaid Cruiser lightweight mobility chair and the Starfish Tumble Forms Bath Chair. We're going to borrow the Pacer Gait Trainer (pictured below) for a couple of weeks before we try out the KidWalk next.

This coming week, Caroline's physical therapist and pediatrician are going to write letters of necessity for our insurance company. I think we'll have all of this equipment in a couple of months!

Below are pictures of Caroline trying out a Gait Trainer and bath chair

Thursday, March 1, 2012

Finding the balance between reality and hope

I love watching Caroline. I lose myself in her eyes, her smiles, her giggles, her love, and everything that she is. But every now and again, this weird feeling takes over and I suddenly get jolted back into reality. For a split second, I feel the wind knocked out of me all over again. It's as if I had forgotten that Caroline has Rett Syndrome and needed the reminder before I got too comfortable.

I realize that on a day-to-day basis, I probably operate under a slight level of denial. I want to forget what I know about the horrific progression of Rett Syndrome. I don't want to worry about the long list of debilitating medical complications often associated with the disorder. And I choose not to think about Caroline's life expectancy. I've learned pretty quickly that thinking about the big picture or the future often leads to devastating scenarios in my mind. So I am trying my best not to think too far ahead. The sadness gets in my way. I find it exhausting. It interferes with my ability to ensure that Caroline has the awesome life we want her to have.

On most days, I am able to focus mainly on what's in front of me right now. There's so much beauty in the midst of all of this. Nothing is taken for granted. Every single day feels like a gift. And the good moments feel sweeter than ever before.

One of our favorite moments from this past week