Thursday, July 28, 2011

"I understand you. I am smart."

I love that Caroline's GP2C purple card reminds people in her life that she understands everything that is said or done in front of her, even if she can't vocalize her thoughts and desires.  We will investigate and try every method until we find the best way to unlock her voice!  I KNOW we will be able to hear what Caroline has to say someday soon, whether we do it through the use of eye-gaze technology or some other method we have yet to learn about.

Before Caroline entered the Regression stage (the second of four stages of Rett Syndrome), she had about 12 words and would "point" to objects she was interested in by reaching for them. The loss of hand skills prevents Caroline from communicating the way she used to so we now rely on her eye gaze and facial expressions. When we talk to her about someone she loves or mention an activity she enjoys, she lights up and smiles at the appropriate time.  If we hold a toy cow in one hand and a cat in the other hand, and ask her to point to the cow, she will look directly at the cow. We engage her in this exercise throughout the day by asking her to "point" to people she knows or objects she's familiar with.  

We hope to soon find a way that will enable her to consistently communicate "no," "yes," and "I don't know/maybe" so that we can better meet her basic needs and wants.  We're all working together and have a lot to learn. 


Sunday, July 24, 2011

Sleep deprivation continues...

Caroline is still struggling with sleeping. She wakes up every hour and then stays up for 3-5 hours straight in the middle of the night, wide awake and unable to fall back asleep. Mike and I take turns trying to soothe her back to dreamland, but no matter who's running to her bedroom, the other person stays up as well.

Sleep disturbances are common with Rett Syndrome, but we're hoping this is a temporary side effect.  Our poor baby is exhausted all the time.  And we are barely functioning.

A brief "nap"

Friday, July 22, 2011

Caroline and the City :-)

The company I work for has an annual summer outing. This year, we took a boat cruise departing from Chelsea Piers for a ride along the Hudson and East Rivers. The invitation for the outing was generously extended to the children so I took Caroline with me. We live outside the Beltway in Virginia so we were in for a 13-hour day (leaving home at 6:30am to be back in time for her bedtime at 7:30pm), but I knew Caroline would love the trip. 

She enjoyed the train ride to NYC and the cruise, but I think her favorite part was getting so many kisses and snuggles from my work friends. She had a wonderful time and was an angel the entire day.  Below are pictures of her day.

On the way to NYC

On the Boat Cruise

On the way back to Washington, DC!

Thursday, July 21, 2011

Caroline's Purple Card from Girl Power 2 Cure!

We received Caroline's purple cards from Girl Power 2 Cure in the mail this week!  The card has a link to Caroline's page on the Girl Power 2 Cure site.  It's a great way to share Caroline's story, explain her condition to people in her life, and raise awareness.  

Front of the card:

Back of the card:

I'd like to take this opportunity to thank Kelly Butler, fellow "Rett mommy" and Family Support and Event Coordinator for Girl Power 2 Cure.  She is kind, generous, and strong--a real inspiration.  She has two incredible children, Brooklyn and Boston Kelly connected me to other "Rett moms" in my area and has been a great source of support.  I finally got to meet these wonderful moms last weekend and I experienced an instant bond with them.  It's sad that we were brought together by Rett, but I am so grateful to be part of a great group of people. They are all open, caring, and supportive.  Their stories and daughters are inspiring.

Tuesday, July 19, 2011

Life can indeed go on

In early May, we came to the realization that Caroline was a child with special needs. Soon, it became clear that those needs were much greater than we had ever anticipated. We went through a painful period of grieving and mourning the child we thought we had "lost."  We were devastated and terrified.  We didn't know what we were up against or what was ahead for Caroline.  Our dreams seemed shattered.  It was hard to imagine that we could ever be happy again.

In the early weeks after diagnosis, I remember looking around and noticing things I had never really paid attention to before.  I'd find myself observing families with daughters, wondering if they realized how blessed they were to be able to hear what their child had to say.  My heart would break for Caroline over and over again whenever I saw a child playing with a toy or holding a cracker in their hand.  I'd see toddlers walking around exploring the world around them and wondered why our Caroline was chosen by a disorder that made it so difficult for her to even bear weight on her legs.  Any dreams we had for her future as an adult were suddenly gone.  For over 5 weeks, I felt deep anguish and grief.  In private, I cried harder than I ever remember crying.

But even when our world seemed to have turned upside down, our love and admiration for Caroline grew bigger and stronger.  She's the reason we can smile and laugh again.  She gave us the energy and strength we needed when we felt like we had none left.  As soon as I opened my eyes in the morning, I'd wonder how I would get through the day, but walking into Caroline's room would instantly turn my mood around.  She always greeted me with a huge smile and so much love in her eyes.  It didn't take long for us to recognize that Caroline was still our awesome kid.  In fact, we began to see everything she had accomplished with more amazement than before. 

Once we were able to get over the initial period of mourning and shock, we began to see Caroline for the unique person she is and stopped comparing ourselves to other "typical" families.  We are on a different path and that's okay.  We feel blessed with an incredible baby and the support of our family and friends.  We now cherish her milestones with greater pride because we know how much harder she has to work to reach them.  We know that there will still be ups and downs down the road.  The bad moments really hurt, but the good moments are incredibly wonderful. 

Below are pictures of Caroline showing her most precious skills



A few friends have shared the following poem with me. It has helped me get through some of the toughest moments thus far.

by Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Monday, July 18, 2011

A very rare event this week

Our beautiful Caroline napping...

Caroline's been struggling with sleeping and napping. And by struggling, I mean waking up at 1am or 2am and staying up until 5am (which is wake up time for mommy and daddy on workdays). She's also been skipping naps. It was a rough week of sleep deprivation for our little household.

Abuela came to the rescue this past weekend and we finally got caught up on much needed rest.  Gracias, mami! 

Today, we had a fun girls' day out.  We did lunch and some shopping with Abuela and grandmom before Caroline's 18-month check up.  Caroline got spoiled with tons of love from both grandmas!

Sunday, July 17, 2011

Accomplishments this week!

In March, Caroline's PT recommended we use a stable walker at home and at school to help provide therapeutic benefits of standing while giving Caroline a position which is at eye level with her friends. This past week, she finally took some first "steps" forward with the walker!

Caroline's getting to be too tall for the walker, but she'll get a Gait Trainer in the next couple of months.

And here's our smart little girl going "up" and touching her feet upon request.

Thursday, July 14, 2011

Blood test results

Last month, Caroline received the clinical diagnosis for Rett Syndrome based on meeting full essential (and most of the supportive) criteria for the disorder.

Caroline's first blood test involving the full gene sequencing did not detect the MECP2 gene mutations associated with about 85% of Rett Syndrome cases. In 15% of the cases, the disorder is caused by deletions in the MECP2 gene. Today, Caroline's geneticist called to inform us that Caroline's second blood test revealed a heterozygous deletion of exon 3 and a partial deletion of exon 4 in the MECP2 gene.

The MECP2 gene, which is located in the X chromosome, regulates the protein in our bodies that helps us talk, walk, and do everyday things we sometimes take for granted. Mutations or deletions in the MECP2 gene disturb the function of those skills (though mutations in a couple of other genes including CDKL5 and FOXG1 have also been implicated in variant Rett cases). The "glitch" in the gene results in Rett Syndrome.

I already knew Caroline had Rett Syndrome, but hearing the exact molecular reason was still sad. I started thinking about how we went through our entire pregnancy and Caroline's first year not knowing what was happening to her body. We never thought that the various symptoms--gross and fine motor delays, teeth grinding, sleeping issues, reflux, etc.--were all pieces of the same puzzle. Nobody did. It wasn't until Caroline started to lose her words and ability to use her hands that it became clear that we were dealing with something much more serious than we ever imagined.

The disorder, however, doesn't affect Caroline's intelligence or her ability to love. She is an affectionate and sweet baby. She understands and will always understand what is said to her because the brain remains intact. In fact, there are a number of ways to communicate involving eye gaze, which we are already starting to figure it out. If we ask Caroline to point to her mommy, daddy, grandmom, dog, etc., she looks in the right direction. There is also technology that enables the use of eye gaze to act as a "mouse" to point to words or images on a computer screen. I am excited about the possibilities around communication!

(Further explanation from the International Rett Syndrome Foundation website)
The link between Rett Syndrome and the MECP2 gene :
Rett syndrome is primarily caused by a sporadic mutation in the MECP2 gene on the X chromosome. The MECP2 gene makes a protein, also called MeCP2, believed to play a pivotal role in silencing, turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally. So, RTT is a genetic disorder of developmental arrest or failure of brain maturation. This is thought to occur when subsets of neurons and their connections (synapses) are disrupted during a very dynamic phase of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the critical phases of synapse development. How mutations in MeCP2 lead to RTT is not well understood but is the focus of intense research.
Why development is normal in the first few months:
RTT results from a chain of events beginning with the MECP2 genetic mutation. Mutations occur naturally in everyone all the time and most do not cause problems. The MECP2 mutation results in a shortage or absence of normal MeCP2 protein needed to regulate or direct other genes. These other genes affect or control the normal development of selected regions of the brain responsible for sensory, emotional, motor and autonomic function during the critical period of infancy when important milestones are expected to be achieved. Development appears to be normal in early infancy until the MeCP2-related regulation or control is needed. Without these controllers, selected regions of the brain do not develop properly. This explains why the child appears to be developing normally in the first months of life.

Sunday, July 10, 2011


Caroline was baptized on Saturday in Delaware, where my mother lives.  My sister and Mike's brother were Godparents.  It was a beautiful ceremony and a very special day.  Caroline was surrounded by a lot of love and support.  She seemed so happy and peaceful. 

Unfortunately, my camera broke right before the service and we didn't get pictures.  Instead, here are some cute pictures we took of her today with a dress she received from a friend as a gift for the occasion.

Update!  Here are some pictures taken with iphones

Thursday, July 7, 2011

Issues with chewing and swallowing

Caroline loves food. She kicks her little feet, smiles, and "sings" when she has some of her favorites including yogurt, cheese, and bananas. Unfortunately, in the last couple of months, she has developed some issues with chewing and swallowing.

This particular problem seemed to come out of nowhere. And it got worse really quickly. At first, she cried hysterically during meals, barely finishing them. Both the crying and the not eating are quite unusual for Caroline (she was never a fussy baby and rarely cried before she began to lose skills in April). Then, she started choking, gagging, and throwing up when eating or drinking. We were able to alleviate some of these problems by cutting her food into even tinier pieces than when she first started eating solids around 10 months. We also stopped using sippy cups and went back the bottles she used as an infant. It takes her much longer to chew and eat her food now, but these scary choking episodes have dramatically decreased in the past week or so.

We've been warned that we may need to do a swallow study soon to make sure she is not aspirating food into her lungs. The thought of Caroline not being able to continue to enjoy eating by mouth breaks our hearts. Food is one of her pleasures and we do not want that taken away from her. We're going to keep pushing to help her preserve this skill.

On a related note, Caroline's always had a tendency to spit up after drinking, which is apparently common among low tone babies. There are days she spits up 5 times a day, but we are now pros at preparing for the clean up! We use a floor topper mat (the kind you use under high chairs), a "vomit towel" (yes, that is our name for it), and a large bib. And we ALWAYS have the scented wipes on the table nearby. 

A picture taken last week of Caroline's adorable "bed head"

Wednesday, July 6, 2011

EEG results

Last week, Caroline had an electroencephalogram (EEG), a test that looks at the electrical activity of the brain. Yesterday, her neurologist called to let us know test came back abnormal, which he explained was often the case among patients with Rett.  I was disturbed nonetheless.  She doesn't have seizures at this point, but if she starts to have them, she needs to get a 24-hour EEG with video monitoring. The doctor also asked how we were coping since the diagnosis and told us that we were in his thoughts and prayers.  We were really touched by his kindness.

The pictures below were taken after the test. Caroline was very patient and cooperative. She was given a light sleeping aid and some benadryl about 30 minutes before the test. I was asked to help her fall asleep so I got in bed with her and we snuggled. I nearly fell asleep too.  Snuggling with my baby girl is bliss.  

Sunday, July 3, 2011

Caroline and Ethan

Caroline had a wonderful pool date with Ethan, her best bud since the womb (he's 3.5 months older).

Ethan's mommy is an incredible woman and a very dear friend of mine. Our pregnancies were a bit similar, including regular contractions and 2 months of bedrest before delivery.

Ethan has the kind of smile that lights up a room!  He's an intelligent and sweet little boy with a very big heart.  These two little ones have shared a deep bond since the very beginning. 

AFOs (Ankle Foot Orthosis)

These AFOs will help align her ankles and assist in proper joint development (which would normally happen with walking, which Caroline doesn't do). Once we get the Gait Trainer we're waiting for,Caroline will be able to learn to take some steps forward with help.

Caroline got used to her AFOs right away. She no longer seems to be locking her knees when she stands.

Oh, and her shoe size went from a 3 to a 7! Caroline's feet are teeny tiny and her new shoes make her suddenly look like an older kid!

Video of Caroline chatting with me