Wednesday, October 20, 2010

Avery's Story of Rett syndrome

Avery was born via C-section on 07.08.06 after 41 weeks and 3 days-She wasn't

ready to come out! But we were so ready to meet her. I'll never forget my husband

telling me: "it's a girl!" We were so overwhelmed-with love and anxiety but she was

an easy baby. She rarely cried and was very independent from the beginning.

Because we were first time parents it wasn't until Avery was about 8-9 months when

we first noticed she wasn't meeting her developmental milestones. Her pediatrician

told us she was fine. We weren't really ready to accept anything was wrong at the

time so we didn't get her started with Physical Therapy until she was 16 months.

After 4 months she was walking. She had inserts in her shoes for ankle stability and now wears arch support orthotics. We had some basic genetic testing that came back normal in spring of 2008. Rett was mentioned but she didn't seem to "fit" in that category so we put the test off. She was evaluated by Early Intervention at the Regional Center of the East Bay (ironically where I used to work!) in June 2008 and was denied.

We got her re-evaluated in November of 2008 and she qualified. She received Physical Therapy, Occupational Therapy and Speech through EI from Jan 2009-June 2009 and now receives these services through our school district. Avery's favorite part is the school bus!! From the age of 2-3 she would have meltdowns out of nowhere-inconsolable crying, screaming and crying in the middle of the night. We had no idea what it was-hunger, pain? It was Rett syndrome taking her away from us. Just prior to her starting school, right around her third birthday we noticed her repetitive hand movements. Deep down I thought it was Rett syndrome-but I ignored it. Chalked it up to a sensory thing. Our neurologist felt differently and suggested it might be time to test for Rett. I was devastated. We didn’t want to know. From what I knew about Rett, she was going to end up severely disabled. I think I cried for 2 days straight and we hadn't even done the blood work!

On November 9th, 2009, after I had convinced myself the test would be negative our whole world changed as we received the news that she had tested positive for Rett Syndrome. We were shocked and sad but mostly relieved. Even though it is extremely difficult, we now know what we are up against and are going to fight it every step of the way. We have a large group of amazing and supportive friends and family who all care about our special little girl as much as we do. This journey with her has given us a new perspective on life and the importance of things most take for granted. Avery has a determined spirit and tries so hard. She has made incredible progress with walking and continues to improve (can walk up two stairs without holding on! climbs into the tub with a little help!). She also tries so hard to communicate-at one point she had 25-30 words/word approximations but they are all gone now due to her continuing regression. She loves to be in the pool, push her baby stroller, look at magazines, eat anything and everything, dance, be with her friends at school, ride the bus and torment her little brother! She has the best giggle, gives great hugs and has an amazing dimpled smile that melts our heart about a hundred times a day.

Rett syndrome is caused by a mutation or deletion on the MeCP2 gene and is mainly only found in girls (it is X chromosome linked) although there are a handful of boys out there. Avery has a deletion at the “end” of the gene and that makes her symptoms less “typical” but it still causes a host of issues. Many girls are not able to walk or speak at all. Many have uncontrolled seizures, feeding issues and other health problems. Avery is prone to having seizures but luckily we haven’t had to deal with that yet. She is also prone to developing a heart condition that can cause her to die suddenly. Avery will have EEG’s and EKG’s every year to check on these issues. She is constantly moving her hands together in a repetitive motion. She screams a lot and cries for reasons we have yet to figure out. We were so lucky to have had her call us mommy and daddy but she no longer able to say them. The only word she says now is BUS. She is 4 years old and still in diapers. I spoon feed her all her meals as she is now unable to feed herself. It is so hard for us to be around children her age-to realize all that she cannot do and will not do unless a cure is found. All of our dreams for her have been crushed. She will never drive, fall in love or get married.

However, there is a lot of hope! Researchers have reversed symptoms of Rett in mice! They are working diligently to figure this out as we speak and when they do it will open doors to a host of other disorders such as autism and Parkinson's. I recently chaired an event called a “Strollathon” to benefit the International Rett Syndrome Foundation and Katie’s Clinic for Rett Syndrome at Children’s in Oakland. The one mile stroll will took place at Arrowhead Marsh in Oakland from 1-4 on 10.03.10. Over 350 people came out to walk and stroll with us and we raised over $71,000!

We have felt so much love and support from the Rett community and are determined to raise awareness and money to fight this devastating disorder. We hate Rett syndrome but love our new Rett family!

If you would like to read more about Avery check out our blog:

and more about the strollathon:

Thursday, October 14, 2010

the anniversary of "that" day and other surreal moments

this picture was taken almost exactly one year ago.

it's coming up. the anniversary of "that" day. the diagnosis day. this time last year i had pretty much convinced myself that Avery was going to test negative for Rett syndrome. anyone i talked to about it was convinced as well. she couldn't have it. no way. but on november 9th we got the call. she had tested positive. i've been trying not to think too much about it. it's amazing what your mind can do to protect the spirit.

had a little iep meeting today. we needed to change avery's eligibility code from "mental retardation/intellectual disability" to "orthopedic impairment". it's the correct code because no one can prove that she is in fact disabled intellectually-plus, this opens her up for more funding making it a lot easier to get equipment and other things for her sensory needs etc. which is great. in order to change it, they needed a copy of her genetic test results. so I sent one in. and there was a moment in the meeting that I picked that piece of paper up and looked at it. and it felt like i was looking at some other person's life. not mine. not Avery's-and I said "it's all still so weird" and her teacher said "what is?" and I said, "that Avery has Rett syndrome". i mean i still really cannot believe it. it was like an out of body experience sitting there in that room.

prior to the meeting i went and observed avery in her classroom setting. i didnt cry watching my little girl needing a special chair on the potty or needing full hand over hand assistance to complete her art project gluing a construction paper monster or while she sat in an ugly chair with a bib on and a special bowl to eat her applesauce. i didnt cry when it took her three tries to throw away a paper towel or when she had to communicate using cards with icons on them attached to a binder with velcro. i was so proud of her for doing all that. but so sad too. why does she have to work so hard? why are we sitting in this class? why isnt she in a typical preschool and having play dates and sleepovers and going to disney on ice? why is this our life?
it's surreal.

in the meeting, after i said it's still all so weird, i reminded her teacher that it hasnt even been a year. that it will be a year on 11.09.10. and she said "i imagine that must be a big day for you" and i said yes, it is. but, i added-im not sure how im going to feel that day because yes, everything changed -but really for the better. her diagnosis gave us a reason. we finally had a direction and a road to walk down. with lots of help along the way. so i smiled about that. im hoping to be smiling on the 9th too.

Tuesday, October 5, 2010


it's over! we did it! we had a busy weekend with Avery's study appt on Saturday and the Strollathon on Sunday! (Saturday was Nolan's 2nd birthday - we will celebrate that on the 10th)

I was really looking forward to Avery's study appt with Dr. Skinner and the team. Avery was enrolled in the study as soon as we got our diagnosis and our first visit was back in March. I met several families that weekend but it was all so new. Such a surreal experience. This time it was so different. So comfortable. So many faces I recognized from prior meetings and even from facebook. We ran into the Layton's, whom we had met in March and we feel so close to now. Leah and Avery had fun taking turns eating fruit and being silly. It was strange to sit with Maren and think we have only know each other for 6 months? And we have gone to Vegas already? wow.
So, we take Avery back to be weighed and measured first. And by measured I mean MEASURED. Not just her height but her bones! She hates this part. lots of screaming and kicking. I was surprised to find out she had grown about 2 inches but didnt gain much weight so her BMI had dropped a little. It is just over 14%. Once girls with Rett go below 13%, alternative feeding methods are discussed. So Im thinking of trying dairy with Avery again. We took her off b/c she was getting eczema. So i gave her yogurt tonight and we will see. Next we got to see Dr. Skinner who is a geneticist from SC. He is fantastic. So sweet with our girls. And just a great man, so smart but still able to relate to parents. we invited another mom (who was visiting from St Louis and planning to open a Rett clinic there) in to our appt with us. A woman I had JUST met. But that's what this family is like. Instant connection. We also got to meet with an orthopedic surgeon from Alabama. He told us that Avery had great muscle tone and that we didnt really need the inserts in her shoes. He loved the way her feet looked and was not concerned about her minor pronation. So we might try to take them out and see what happens. Then we got to go talk to Judy the communication specialist! She offered Avery a chance to use an eye gaze computer but unfortunately Avery was ready to leave. She was done. And I dont blame her. But I got lots of great ideas and feedback from Judy. More on that later! So we left. And as we were leaving we saw all of our favorite people-but off we went. We knew we would see them all the next day-at the much anticipated STROLLATHON!
that little goose at the Study

We showed up to set up with a packed car-I literally had tables millimeters from my head. the weather was WEIRD. clouds and sun and wind and sun again. but we made it.
we didnt know what to expect. we had 140 or so registered online. and we had 360 people! that count included children and babies, but STILL! 360? Wow! I counted 18 girls and women with Rett. Amazing.
im so thankful for all the help we had from some wonderful rett parents and siblings. we had incredible volunteers and committee members. we just couldnt have done any of it without each and every person we had. we had tons of food and drink and awesome faeries who face painted, music, fun crafts and temporary tattoos!
As 2pm approached I knew it was time for me to say a few words. this is not my favorite thing to do. i honestly would feel more comfortable getting a root canal than speak in public. so butterflies were making their way around my tummy. but I had to go. so up on the stairs i went and looked out to so many people all looking up at me. as luck would have it-we had no microphone and it was windy so Im certain only about 7 people heard what I said. that made it easier. and i didnt cry. i dont remember what I said as it was not at all what I had prepared but I did it without my voice even wavering. Im really proud of myself for that. I made Paige and Red stand up there with me. Im such a chicken.
Then we took some pictures and got ready to Stroll. I almost lost it at that point. Seeing all the friends and family that had come and and were wearing our team little goose hats (in orange and black for our Giants!) really blew me away. they were all standing with us in our fight. with us. it was too much. but i pulled myself together and walked. and we talked and laughed and met people and introduced friends to family and vice versa.
Our stroll was a "down and back" style stroll so when we made the turn we were walking back the way we started and the rest of the group was still coming...high fives...smiles....waves. so much love. and the sun had come out.
team little goose was nearly 50 adults strong. We had 8 people with fundraising pages and as of today the team as a whole has raised $16,293.89. Another team, Avery's Fan Club raised $5475.00. thats a ton of money. it gets us much much closer to a cure.
team little goose. pure love.

*pictures by Debbie Lee*
for more pics, go here: