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:

1 comment:

The MacDonald Family said...

Beautiful Avery! We are fighting with you, every step of the way, fighting Rett until our girls are cured!! Much love!!