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Friday, February 26, 2010

Clonidine

We started Aves on Clonidine last week. So she has been on it now 8 days. Today will be nine but she takes it at night so today doesn't count yet. We wanted to try it for her aggression (knocking Nolan over, grabbing his face, hitting pushing etc) b/c most of the time it seemed she was doing it involuntarily. Also, one of the side effects of it is drowsiness, so she takes it at night and it helps her to get to sleep. she has been staying asleep much better too!
So its much calmer here now. I dont have to be running in to see why Nolan is crying as much as I was. She can walk by him and doesnt seem to have the urge to hit him or push him. YAY. I have been praising this as I see it by telling her I like the way she is keeping her hands to herself. Her teacher said that she has been swatting a little less in school too-although she did pinch one of the aides pretty hard the other day. Who knows where that came from! Apparently she got her good! Her teacher also told me that her hand movements seemed to be more pronounced though. This I do not want! I know it shouldnt (b/c she cannot help it) but sometimes just the sound of it drives me up the wall! (where does that saying come from? what a weird thing to say, I will have to look that up!) So, I was thinking about maybe bracing one of her arms? What do you Rett mommies think? I want to see if it makes her feel better-obviously if it makes her more agitated we wont continue but I think it might make things better for both of us! I need to hear your stories on this! Chime in!
Well Nolan is up from his nap-back to work for me!

Wednesday, February 24, 2010

Research to Reality!

Please visit www.msnbc.com today and click on the Rett syndrome ad! You can donate there quickly and easily ($10 minimum) and any money raised there today is eligible for matching dollars! give 10-it becomes 20 just like that!
I see a future with a CURE in sight! This is my HOPE! Wont you please help us!??
Any donations at www.firstgiving.com/averyanne are also going to be matched! Lets make this the biggest ONE DAY fundraising effort EVER!!

Friday, February 19, 2010

To all the Rett mommies and delayed darling mommies

I stole this from a friend's blog (thanks to williamsmommy)

Many of you I have never even met face to face, but I've searched you out every day. I've looked for you on the internet, on playgrounds and in grocery stores. I've become an expert at identifying you. You are well worn. You are stronger than you ever wanted to be. Your words ring experience, experience you culled with your very heart and soul. You are compassionate beyond the expectations of this world. You are my "sisters."

Yes, you and I, my friend, are sisters in a sorority. A very elite sorority. We are special. Just like any other sorority, we were chosen to be members. Some of us were invited to join immediately, some not for months or even years. Some of us even tried to refuse membership, but to no avail. We were initiated in neurologist's offices and NICU units, in obstetrician's offices, in emergency rooms, and during ultrasounds. We were initiated with somber telephone calls, consultations, evaluations, blood tests, x-rays, MRI films, and heart surgeries. All of us have one thing in common. One day things were fine. We were pregnant, or we had just given birth, or we were nursing our newborn, or we were playing with our toddler. Yes, one minute everything was fine. Then, whether it happened in an instant, as it often does, or over the course of a few weeks or months, our entire lives changed. Something wasn't quite right. Then we found ourselves mothers of children with special needs. We are united, we sisters, regardless of the diversity of our children's special needs. Some of our children undergo chemotherapy. Some need respirators and ventilators. Some are unable to talk, some are unable to walk. Some eat through feeding tubes. Some live in a different world. We do not discriminate against those mothers whose children's needs are not as "special" as our child's. We have mutual respect and empathy for all the women who walk in our shoes.

We are knowledgeable. We have educated ourselves with whatever materials we could find. We know "the" specialists in the field. We know "the" neurologists, "the" hospitals, "the" wonder drugs, "the" treatments. We know "the" tests that need to be done, we know "the" degenerative and progressive diseases and we hold our breath while our children are tested for them. Without formal education, we could become board certified in neurology, endocrinology, and physiatry. We have taken on our insurance companies and school boards to get what our children need to survive, and to flourish. We have prevailed upon the State to include augmentative communication devices in special education classes and mainstream schools for our children with cerebral palsy. We have labored to prove to insurance companies the medical necessity of gait trainers and other adaptive equipment for our children with spinal cord defects. We have sued municipalities to have our children properly classified so they could receive education and evaluation commensurate with their diagnosis.

We have learned to deal with the rest of the world, even if that means walking away from it. We have tolerated scorn in supermarkets during "tantrums" and gritted our teeth while discipline was advocated by the person behind us on line. We have tolerated inane suggestions and home remedies from well-meaning strangers. We have tolerated mothers of children without special needs complaining about chicken pox and ear infections. We have learned that many of our closest friends can't understand what it's like to be in our sorority, and don't even want to try.

We have our own personal copies of Emily Perl Kingsley's "Welcome to Holland" and Erma Bombeck's "The Special Mother." We keep them by our bedside and read and reread them during our toughest hours. We have coped with holidays. We have found ways to get our physically handicapped children to the neighbors' front doors on Halloween, and we have found ways to help our deaf children form the words, "trick or treat." We have accepted that our children with sensory dysfunction will never wear velvet or lace on Christmas. We have painted a canvas of lights and a blazing Yule log with our words for our blind children. We have pureed turkey on Thanksgiving. We have bought white chocolate bunnies for Easter. And all the while, we have tried to create a festive atmosphere for the rest of our family.

We've gotten up every morning since our journey began wondering how we'd make it through another day, and gone to bed every evening not sure how we did it.

We've mourned the fact that we never got to relax and sip red wine in Italy. We've mourned the fact that our trip to Holland has required much more baggage than we ever imagined when we first visited the travel agent. And we've mourned because we left for the airport without most of the things we needed for the trip.

But we, sisters, we keep the faith always. We never stop believing. Our love for our special children and our belief in all that they will achieve in life knows no bounds. We dream of them scoring touchdowns and extra points and home runs. We visualize them running sprints and marathons. We dream of them planting vegetable seeds, riding horses and chopping down trees. We hear their angelic voices singing Christmas carols. We see their palettes smeared with watercolors, and their fingers flying over ivory keys in a concert hall. We are amazed at the grace of their pirouettes. We never, never stop believing in all they will accomplish as they pass through this world.

But in the meantime, my sisters, the most important thing we do, is hold tight to their little hands as together, we special mothers and our special children, reach for the stars.

By Maureen K. Higgins

Three years

Mom at about age 4 or 5 (looks so much like Avery)
Three years it has been since ALS took my mommy from us. It amazes me that all that time has passed and if I start to think about all she has missed I get really sad. She got to meet Avery but never had to worry about her delays and for that I am thankful. She would have driven herself (and the rest of us) crazy getting the "best" doctors on the case! That was how she was. Always wanted the best of the best. And thinking of that makes me smile. But I cant help but cry that she didnt get to know our special little Avery and never even got to meet Nolan. There is just something that is so not ok about that for me.
Im still working out what I believe about heaven and God and all that important stuff and I do believe she is always with me. But I dont want her just in spirit, I want her for real. I want her back, I want her advice and I want to be able to call her and ask her all the stupid little questions I never really asked her about her life.
It wasn't easy being her daughter-we were so alike (which I never would have admitted before) that we butted heads a lot. Boy did we argue over my wedding plans! But I know now that all that "control" she wanted over all things relating to my life was just her way of helping me be the best and to have the best there was. She worked so hard and came from nothing so it makes sense that she would have wanted nothing less than the best for her kids. She did anything she could for us. All because she loved us so much. And even through the arguments and bickering, and the "are you sure you are going to wear that" comments, I always felt the love.
She loved everyone and everyone loved her. What more could you want from life? That is the BEST.
Miss you mom.
xxoo

Wednesday, February 17, 2010

EKG results

Got a call yesterday-didnt answer because if I tried to talk yesterday it made me more nauseous (stomach bug). So I let it goto voicemail and then promptly checked it. It was Kaiser calling with Avery's ekg results.
You ready?
Totally NORMAL! Yes!
The test was to rule out Prolonged QT syndrome which is at an increased risk with Rett syndrome and other genetic mutations. From Wikipedia: The long QT syndrome (LQTS) is a rare inborn heart condition in which delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (a form of irregular heartbeat that originates from the ventricles). These episodes may lead topalpitations, fainting and sudden death due to ventricular fibrillation. Episodes may be provoked by various stimuli, depending on the subtype of the condition.[1]

The condition is so named because of the appearances of the electrocardiogram (ECG/EKG), on which there is prolongation of the QT interval. In some individuals the QT prolongation only occurs after the administration of certain medications.[1]


So this is great news!


Saturday, February 13, 2010

Katie's Clinic for Rett Syndrome at Children's Hospital Oakland

We had our long awaited appointment today! Thank goodness they will provide a written report because it was a whirlwind! Avery did so well-Im sure she loved all that attention!
Every single specialist we saw was a warm, caring, knowledgeable person! All knew Rett inside and out and all were so impressed with miss Aves!
First we talked to the OT and nutritionist. We got some great feedback about her hand use and chewing skills which was very reassuring. I got some awesome info from the nutritionist about ways to get more calcium in Avery's diet without dairy. Its amazing how ingrained "good eating" can be-I forget that I can TRY to put more fat in her diet!
Then we saw the physiatrist who was very nice. she checked Avery's spine and said its very straight! No signs of curvature! Phew. We still have the xray to look at. She also told us we should go ahead and get the inserts or her shoes-the more support we can give her ankles early the better. So I am going to order those. I am so glad we brought the ekg results- I was able to give them the original for their doctors to look at. The PT was so nice and she was the most amazed at Avery's gross motor abilities. She gave me some great tips for making sure her IEP goals are appropriate and to focus on goals that bring her to a "typical" level (rising a trike, jumping etc). Then we saw Judy the communication specialist. She gave us several ideas about new things to try. She also thinks we should get an OT evaluation by someone with a sensory specialty b/c Avery is so unregulated. Maybe some therapeutic listening or something. I have to get looking into that. I cannot wait to get her report and share it with school! I hope they will be receptive. We also got to speak with Dr. Suzanne Davis the ped neuro. She was very nice and gave us some good feedback as well. We are going to cancel/put off her 24 hour eeg. We dont really think there is any true seizure activity going on so its really not necessary. I was glad to get her Ok on that.
What a wonderful service they provide to so many families. Katie's clinic is a warm, caring place where you are surrounded by people who know Rett Syndrome in and out! It was awesome. Well worth it. thank you!!!

Monday, February 8, 2010

Strollathon!

well I wanted to get involved and this is about as involved as I can get! Im chairing the Inaugural NorCal IRSF Strollathon in October! I hope I havent bitten off more than I can chew.
Im going to use my blog to request help from my readers. If you have tips, Ill take them. If you have money, Ill take that too! We need sponsors/partners ($5oo or more) so any connections you might have-send them my way! Thanks!!

Thursday, February 4, 2010

smiles for mommy

I just got the most amazing note from Averys teacher in our communication book! Here is what it said (prompted by me writing to tell her about the new S sounds)

"Yay, I too have heard the "S" Its so much fun to see how proud of herself she gets when we are so happy about something. Very cute! Also, I've heard 4x the word "uh-oh". this is such great practice and I think fun for Avery. We do lots of practicing with silly sounds. Avery was ON ON ON today!! All of us noticed quite an increase in babbling about everything, more compliance, eye contact, willingness to work longer. Nice to see!"

AHHHHHHHH! This is so fabulous.

So, remember how the new and improved neuro told us about cerebral folate deficiency? And that it mimics Rett? And that for some girls with only a clinical Rett diagnosis but a negative genetic test, it has improved their symptoms? Amazing right? And even though Avery has a positive test, Dr. New said lets try it and see! He said because hers in an unreported deletion we cant really rule it out. And now all this speech!! wow.

I shared this info with an awesome mommy I met on a message board for kids with delays-her daughter has some Rett-ish symptoms and she was tested for it-negative. She has been on folic acid now for a week or so and there has been a lot of progress! Let's all hope this is the key for them!
Thank you Dr. New and Improved!!

Wednesday, February 3, 2010

new sounds!

video

BUFTHS!

This is Avery's new word-it's always been BUH for bus but now we have BUFTHS or something like that! Its a cute little lispy SSS sound at the end and Im in love with it. It makes me happier than margaritas! :)
PS: she is flipping magazine pages in the video-thats the noise you can hear in the background!

Monday, February 1, 2010

wishes in the dark

Another Rett mom posted this on the Rettnet listserv I belong to, just had to share:

WISHES IN THE DARK
Sometimes when she's sleeping
I can see in my mind's eye
the little girl I thought I had,
the one who said good-bye.

Sometimes when she's sleeping
hands folded by her cheek
I close my eyes and see before me
a child who can speak.

Sometimes when she's sleeping
she seems so whole and well
I can't believe she won't awaken
with dreams of which to tell.

Sometimes when she's sleeping
and the tears in my eyes overflow,
I steal what kisses I can in the dark
and wonder what joys she will know.

Sometimes when she's sleeping
and my eyes ache with tears unshed,
I pray she'll always be full of peace
as she slumbers in her bed.

Sometimes when she's sleeping
I can almost hear her say
"I love you, Mom, with my heart
and my soul, each and every day".

But always when she's sleeping
I am full of pride
at the miracle that is my daughter
and the perfection that is inside.



-----author unknown