home

info

News

portfolio

Ava Rose

Keira Needs

Giving

contact

home

Join us as we move forward with our battle to bring a treatment and a cure for Congenital Muscular Dystrophy, including Walker Warburg Syndrome. Keira is almost 3 years old and living with this terrible disease, which took the life of her sister Ava, on Dec 23, 2009.

Fight for Keira

info

What is Congenital Muscular Dystrophy? CMD is a group of diseases causing muscle weakness at birth with several different genetic mutations. Children with CMD may have many neurological and physical limitations. Some children will never be able to walk, while others lose the ability as they grow older.

Symptoms of CMD: Some forms of CMD, involve spinal curvature, respiratory insufficiency, learning disabilities, eye defects and seizures.

The progression of the disease varies depending on the type and severity. Most are slow progressing, and often shorten life span. These diseases are sometimes inherited through both parents, but can also be inherited from one parent. They can also occur spontaneously because of a newly developed genetic mutation.

What is Walker Warburg? Walker Warburg Syndrome is a very rare form of Congenital Muscular Dystrophy associated with severe brain and eye abnormalities. This condition is worldwide, with a reported occurrence rate of 1 in every 100,000 live births. It is the most severe form of Congenital Muscular Dystrophy, with most children dying before the age of 3. Symptoms of WWS: Symptoms are most often present at birth and include generalized hypotonia (floppiness of body) muscle weakness, developmental delays with mental retardation and occasional seizures.

Prognosis: Prognosis is often very poor with no specific treatment available. The disease management is only supportive and preventive.

About Keira's Syndrome

News

News & Links

LINK: Cure CMD: www.curecmd.orgCure CMD's mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. Cure CMD will achieve this mission by working globally together with dedicated parent, government and research advocates. By focusing on this mission, Cure CMD will find and fund high potential research and clinical trials. Success will be determined by clinical applications that improve the lives of those afflicted with CMDs.Collagen 4The collagen 4 gene is now added to the list of genes that can lead to a Walker Warburg Syndrome which until now was thought to only be caused by mutations in the genes that lead to a dystroglycanopathy. In a recent publication, a group at the University of San Francisco, demonstrated that a heterozygous Col4alpha 1 mouse model has findings suggestive of Walker Warburg syndrome including myopathic change on muscle biopsy, eye malformation and neuronal migration problems in the brain. They identified 2 patients with WWS with causative mutations in the col4alpha 1 gene. This work expands our understanding of the role of the extracellular matrix in causing brain and muscle pathology that up until now has been associated only with the dystroglycanopathies. Future WWS patients could be screened for targeted dystroglycan or collagen testing through immunohistochemical testing of muscle or skin biopsy to identify decreased glycosylation or decreased collagen.
Pink Ribbon

LINKS

portfolio

Photos

KEIRA10.jpg
KEIRA3.jpg
KEIRA4.jpg
KEIRA2.jpg
KEIRA12.jpg
KEIRA7.jpg
KEIRA6.jpg
KEIRA17.jpg
KEIRA18.jpg
KEIRA19.jpg
keiratyltr.jpg
KEIRA24.jpg
KEIRA27.jpg
Keira!.jpg
Happy Keira.jpg
Keira star.jpg
Keira what.jpg
Go Yankees!.jpg
Keira chillen.jpg
207100_10150160289727180_667537179_6559363_769498_n.jpg
217158_10150169743982180_667537179_6649213_6867622_n.jpg
182874_10150111727102180_667537179_6247068_6643217_n.jpg
164008_10150093903617180_667537179_6000765_603831_n.jpg
166440_496080547179_667537179_5838254_5208596_n.jpg

These pictures are of me growing up. As you will probably tell I enjoy when either Mommy or Daddy take my photo.

With your help I plan on being in a lot more for you to look at.

I really appreciate your interest and caring.

Love,

Keira

Ava Rose

Ava Rose, our Angel

Precious_Child_by_Karen_Taylor-Good.mp3

ava2.jpg
AVA1.jpg
AVA3.jpg
AVA5.jpg
AVA6.jpg
AVA7.jpg
AVA9.jpg
AVA11.jpg
AVA12.jpg
AVA13.jpg
AVA14.jpg
AVA15.jpg
AVA16.jpg
AVA17.jpg
AVA18.jpg
AVA19.jpg
AVA20.jpg
AVA21.jpg
AVA22.jpg
AVA23.jpg
AVA24.jpg
AVA25.jpg
AVA26.jpg
AVA28.jpg
AVA27.jpg
Ava wiggles.jpg
Ava pretty1.jpg
Ava 2.jpg
Ava wiggles.jpg
Important 159.jpg
Important 028.jpg
Important 123.jpg
Important 124.jpg
Important 192.jpg
407391254110_0_BG.jpg
454681254110_0_BG.jpg
614681254110_0_BG.jpg
796391254110_0_BG.jpg
944681254110_0_ALB.jpg
Ava and Berry.jpg
Aidan Katie Ava halloween.jpg
Ava and grandma.jpg
Ava Beth Aidan.jpg
Ava BIG YAWN!.jpg
Ava christmas.jpg
Ava hungry.jpg
Ava feeling bette.jpg
Ava sleepy.jpg
Ava sleep.jpg
Ava thinking.jpg
Ava sleepy2.jpg
Ava soo tied.jpg
Ava.jpg
Ava sleepy2.jpg
Ava soo tied.jpg
Ava.jpg
Ava sleepy2.jpg
Ava soo tied.jpg
Ava first christmas.jpg
Ava first christmas.jpg
Ava baptism.jpg
Katie and Ava1.jpg
peaceful angel.jpg
Katie and Ava1.jpg
peaceful angel.jpg
Peaceful Ava.jpg
snugglin with dad.jpg
Wide Awake!.jpg

Ava Rose was born on March 20, 2007 at Yale Children’s Hospital to a world of uncertainty. We knew going into that day that Ava would be born with some medical problems; but we did not know how severe these problems would be, or even if they would affect her at all. We had certainly never heard or thought of the words “Congenital Muscular Dystrophy” or “Walker Warburg Syndrome.” Our beautiful angel, while fragile, was incredibly strong throughout her short life. She was hospitalized several times for pneumonia, seizures, and preventative surgeries, but always seemed to come out of everything stronger and happier. When she was diagnosed with Walker Warburg Syndrome, the most severe form of CMD, we were shocked. But we knew that Ava needed us to be strong and to fight for her when she couldn’t fight for herself. Ava gave us many joyful moments, like making noises and talking. She would never really say any words, but she certainly knew how to get your attention. She would coo, and once even loudly said th word NO! Ava’s attitude, warmth and love will be missed. We know we will see her again, and know she is always with us in our hearts. Please enjoy the pictures of Ava’s journey throughout her 2.5 years!
Museum Frame

March 20, 2007-December 23, 2009

Keira Needs

Things Keira Needs

Here's your chance to help Keira.

Exergen TemporalScanner 2000c Temporal Artery Thermometer $34 online.

The Exergen Temporal Artery Thermometer is a totally non-invasive system with advanced infrared technology providing maximum ease of use with quick, consistently accurate measurements. Advanced, patented technology measures temperatures with a gentle stroke across the forehead. The Exergen Temporal Artery Thermometer has patented software, providing arterial heat balance. This unique process determines temperature by accurately measuring the balance between the tissues warming from arterial blood and tissues cooling (warming) caused by heat loss (gain) to the environment. Please send to Brendan Sullivan, 105 Elmhurst Ave, Stratford CT 06614.

Giving

Greetings everyone. We hope you are all well and will enjoy Fall and the cooler weather that comes with it. Keira continues to do well, despite the long odds against her. She is stable thanks to the many prayers sent out by all of you! Keira's battle with Walker Warburg Syndrome, a devastating form of Congenital Muscular Dystrophy continues. Her drive to continue fighting and beat the odds serves as an inspiration to everone, but she and her family cannot continue this battle alone!We need your help....Keira is very stable, and we thank God for that, but that is because we are doing whatever it takes to keep her stable. That means bringing in the latest therapeutic equipment, such as the cough-assist machine, a chest therapy vest, and other devices meant to help keep her lungs clear and her breathing stable. All this equipment, with all the other care that she requires, is making it very difficult on her family. Despite being on Medicaid, we are still facing many co-pays, and there are still many items which aren't covered by insurance, such as diapers, some medications and the utilities required to keep her equipment running.Keira's battle is two-fold. Her battle for survival against the odds, and also her battle to help find a cure for the Congenital Muscular Dystrophies. If we can reach our goal, 25% of the proceeds will go to Cure CMD, an organization which Keira's father volunteers for that is leading the way toward a cure and therapy for the many forms of Congenital Muscular Dystrophy. That's $2,500 that can be used to fund research or to fund travel for the Scientists involved with Cure CMD to go to conferences and collaborate on working toward a cure! Another 25% will go to the Yale Children's Hospital, which we will request they use toward buying new toys or christmas presents next year.The remaining donations will go towards Keira. We are hoping to buy her new equipment, including a bathtub which costs $1,200.00 and isn't covered by insurance. This bathtub is one where Keira can sit upright with minimal support, making it easier on us and her nurses to give her baths. We cannot do this alone. Your support in this on-going battle is greatly appreciated, and we thank you! Please join Keira's team! If you would like to be a team member, you can email us at sullyinhi_yahoo.com to find out how you can help. You can donate from this page by clicking on the PayPal button above. If you prefer to send a check, please make it out to Brendan Sullivan, 105 Elmhurst Ave, Stratford CT 06614.Thanks again!Respectfully,The Sullivan Family

Be the recipient of a KEIRA BRACELET while supplies last. For each person who donates to Keira we will send a bracelet to you. Simply provide us with your name, address and donation amount on the Contact Us page and we will send one to you as a thank you for your donation.

contact