Serena: An Aicardi Angel

"One thing about Serena is she teaches us so much about unconditional love, patience, trust, and contentment. Her will to survive is so strong and she has a very powerful effect on so many that meet her. I am always amazed by that. She is someone who cannot speak but profoundly touches so many. She is just a sweet, content, lovable person. And this, I hope makes all who meet her the same."

For the last two years my husband and I have attended the "Aicardi Party." What's that, your asking? It is a chance to help out a well deserving, underfunded, little known charity for girls suffering from Aicardi Syndrome. One of those girls is Serena, she is the niece of a friend. It is difficult to say for certain how many girls suffer from Aicardi Syndrome, but it appears Serena is one of only 300 to possibly 500 girls in the world. The Aicardi Party was a beer and wine tasting event, coupled with silent and live auctions from which all the proceeds went directly to the Aicardi Syndrome Foundation. This year we combined our charity money for April and purchased 2 tickets to the event.

What is Aicardi Syndrome? After reading some literature and talking to Serena's mother Linda, I have learned that Aicardi Syndrome is a complicated genetic neurological syndrome, with a whole host of symptoms. The most prominent being uncontrollable seizures. Most of us have heard of epilepsy, but unlike epileptic seizures which can usually be controlled with medications, ketogenic diet or a vagal nerve stimulator, seizures from this disorder cannot usually be controlled, ever. Serena has tried all of these without success. Which has left her to deal with uncontrollable, and many times violent seizures. The cause of these seizures: a partial or total absence of the corpus collosum. This is the part of the brain which sits between the right and left sides of the brain and allows the right side to communicate with the left. The seizures, says Linda, are the most difficult part to deal with. Serena can have anywhere from 1-5 seizures a day, which Linda describes as "slight in intensity", when she is not sick. These usually do not require medical intervention. Some, says her mother, may be unnoticeable to an untrained eye. However, when Serena is sick with an infection, shunt failure etc..., she can have at least 10 a day. These are "very obvious, and require some intervention," says Linda.

Serena mom says the other most difficult thing with this syndrome is the lack of speech or any real communication. While Serena does smile, moan and look for her parents in a room when she hears their voice, she has no speech, sign language, or gesturing capabilities. She also is blind in her right eye. "It's so hard guessing what she needs--- does she have an itch, is she thirsty, uncomfortable, sick, hungry, have a headache, etc.. It must be extremely frustrating for her although she doesn't show it."

Other "markers" used to diagnose the disease are lesions or "lacunae" of the retina of the eye that are very specific to this disorder, and other types of defects of the brain such as microcephaly, (small brain); enlarged ventricles; or porencephalic cysts (a gap in the brain where there should be healthy brain tissue). There are a whole host of possible symptoms, from the literature available as many as 40 or more. Additionally AS only affects girls (XY) and boys with an extra X chromosome (XXY instead of XY). Boys with AS who only have the usual XY set of chromosomes will not survive in the womb, and abort.

For Serena's family this long journey began 14 years ago, before Serena was even born. An ultrasound when her mother was 8 months pregnant showed "spots" on her brain. These spots ended up being benign (non-cancerous) cysts, or missing brain matter where her corpus collosum should have been. Serena's mother said other than having a smaller right eye, known as microthalmia- which is common in AS, she appeared normal at birth. However, since they knew something was not right with her brain she went directly to Children's Hospital when discharged. After 4 days, dozens of tests, and doctor after doctor it was determined Serena had Aicardi Syndrome. "We were devastated," said Linda.

Fast forward. Multiple hospitalizations, surgeries, over 40 days in ICU, and over 12 brain surgeries Serena is now 14. She has had the right frontal lobe of her brain removed to try to control her seizures, which was ineffective and ultimately lead to removal of the entire right side of her brain. This has left her with panhypopituitarism (deficiency of pituitary hormone) and a whole other set of problems unrelated to AS. She has had a shunt placed in her brain to help drain fluid, and a G-tube, a tube that leads from the outside of your stomach to the gastric portion of your stomach through which liquid feedings are given. For now this G-tube is only used when Serena is ill and not taking oral foods and liquids. With help, she is able to drink from a sippy cup using her right arm and hand.

Serena requires 24 hour care. Her parents must do everything for her, including waking in the night to check on her and change her. During the week she attends a special needs program at a local high school. The children in attendance are all similar to Serena in health needs. The program relies on a core group of teachers and staff, which according to Linda, have been with Serena since about age 5. Students from the high school volunteer, and are present throughout the day to assist the staff with the kids. She also attends Children's Hospital day care one day a week and during summer. Serena's parents had respite care for a while, but do not any longer. Children's Service Society has never replaced her respite caregiver and have told Serena's parents the waiting list is " too long." Which is what Linda states all the agencies tell them.

Serena does not qualify for therapy, since guidelines require she show "marked improvement." Therefore, to maintain Serena's current range of motion, her parents must do stretching exercises with her daily. Since Serena has very limited mobility,Linda and Terry, Serena's father must move her joints for her. Without these exercises Serena's joints may develop contractures.

Currently Serena does not have a lift for her home. Her parents must lift her from place to place. This difficulty in moving Serena, and her multiple medical issues makes it difficult to find a sitter. Linda says that is the main thing she hears from other families as well. "People could volunteer to be Respite Providers and give the families some relief and time to get away as a couple. I am sure it is a scary thought caring for kids with many health issues. We made sure our Augustine (Serena's former respite care-giver)was comfortable and explained everything over time. She really had no issues, even with Serena at her worst point."

There is no cure for AS. Only symptomatic treatment, seizure management, and attempts to manage the other symptoms, as well as intervention for developmental delays. Some girls with AS can eventually learn to speak. Their prognosis and capability is varied based on the extent of brain damage and other symptoms. With so few known to be affected, research and funding is limited. Currently there are, I believe, two studies being done, and a few groups out there for families to turn to for support.

One such group is the Aicardi Sydrome Foundation. Founded by parents of a daughter born with AS, ASF has helped connect families around the world whose daughters are affected, and also provide financial assistance to cover things insurance will not. Over the years ASF has paid for a handicap shower for Serena and most recently a hydraulic lift on their van. The Foundation also pays for a hotel room and meals for a weekend biannual conference. Doctors, researchers, speakers, trust lawyers, wheelchair reps, etc.. attend and speak about new findings, and to give these families the information they need. Serena's mother says these conferences are extremely informative and a bonding experience for the families.

ASF is run solely by volunteers, including the lawyer and accountant. When a family requests money it is reviewed by the board of directors - again all volunteers. The request must be for something specific, not just "money." The family must provide quotes and a letter from insurance stating the item requested will not be covered.

ASF raises money through a variety of fundraising activities such as golf outings, wine/beer tasting events, auctions, private parties sponsored by families, and even through the sale of Aicardi Angel jewelry. Additionally a group known as The Shrinking Violets has agreed to donate half of it's sales from it's newest CD release "Fragile" to ASF. This year's Wine and Beer Tasting Aicardi Party(also featuring a silent and live auction), which we attended raised close to $30k even after expenses. All the money raised by Serena's parents at the Aicardi Party went directly to ASF. Over the years through various charitable endeavors Linda, Terry, and Serena have raised over $200,000 for ASF. But this is not enough, we need more people to get involved!

For more information on ASF, to make a donation, volunteer, or find out how you can get involved contact: Al and Cindy Meo, Aicardi Syndrome Foundation, P.O. Box 3202, St. Charles, IL 60174 ,U.S.A ,1-800-374-8518. or go to http://www.aicardisydrome.org/. There may be an Aicardi Event coming up near you! To purchase or learn more about Aicardi Angel Jewelry or the CD "Fragile" click on the links above.

Pajama Program Drive Update

A few of the kids from my son's class who

participated in the Pajama Time Drive

Thanks to the generosity of the parents at my children's school, on behalf of the Pajama Program I am able to donate 37 pairs of brand new pajamas (most of which were 3 piece sets) and 12 new books to the Joy House in Milwaukee. So many of the homeless children there have little to no possessions. Like I said my husband used his February money, $28, to create a flyer to distribute at the school. From that flyer we were able to collect over $500 in merchandise!

My oldest sons showcasing some of the goods!

More mail!

Thank you for writing about our Lydia and educating others about Rare chromosome disorders and the unique organizations that help parents out.- Sally (Lydia's mom)

Lydia's Story

“We are guilty of many errors and many faults but our worst
crime is abandoning the children, neglecting the fountain of life. Many of the
things we need can wait. The child cannot..."

-Gabriella
Mistral

9q34.3. You've probably never heard of 9q34.3, and unfortunately for Lydia and what appears to be approximately only 50 other children in the entire WORLD you won't ever hear about it again. 9q34.3 is a rare chromosome abnormality in which a part of one of Lydia's 9th chromosome has been deleted.

What exactly does this mean? For Lydia it may mean she will most likely be mild to severely retarded. She has low muscle tone and requires physical therapy several times a week as well as requiring speech therapy. Despite this, Lydia may never walk or talk. She is at high risk for infection and seizures. She has already faced 3 bouts of pneumonia, one which required hospitalization. She has also been hospitalized for a kidney infection, and most recently after becoming ill and having severe bouts of vomiting,which at times left her unconscious for almost a minute. She is now facing the possibility of having a feeding tube placed. The feeding tube will prevent the recurrent lung infections she has incurred from liquids aspirating into her lungs during feedings. Lydia was born with a heart defect, natal teeth and could still face growth retardation, lung problems and a whole other list of problems. This April Lydia will celebrate her first year of life.
Most likely you've heard of Down's Syndrome. For families with Down's there are many organizations for parents to reach out to for support. Fundraising is happening continually and there is a wealth of information out there for families and supporters. For Lydias family, support in the medical and public communities is almost non-existent. For Lydia's family, the 50 other families facing this rare syndrome, and other chromosome disorders like
9q34.3 it can be a lonely journey with very few places to turn to for support or answers. Additionally funding for research into 9q34.3 is almost non-existent, and programs to benefit the families of children with 9q34.3 and other rare chromosome disorders is even less.
This month I am donating my money to Chromosome Deletion Outreach. CDO provides family matching (3 different networking programs), an electronic newsletter (those without e-mail are provided with a mailed version), listserv, library access to a medical advisory board and website family sharing pages. In 2007 they introduced a mathematical algorithm through their new web application -what they believe is to be the first of its kind - to finally accurately track karyotypes, learn more about the genes affected by these rare chromosome rearrangements and hopefully develop effective treatments.
The CDO relies entirely on donations and almost all administration and management are done on a volunteer basis. Unfortunately for the CDO there is so little information out there about rare chromosome disorders and their organization that the majority of donations come from the families of these children. Families who themselves are struggling with thousand of dollars in medical bills.
Lydia's family has found that the CDO and another organization out of Europe, Unique have been a life saver. Putting Lydia's mom in contact with other families, providing up to date information, and making the journey a little less lonely. For more information about 9q34.3, other rare chromosome disorders, the CDO, Unique or how you can help click on any of the links above.

You may also support Chromosome Deletion Outreach's many family programs and services through the purchase of this beautiful Swarovski crystal & pearl bracelet designed by Kelly's Pearls of Hope. Each bracelet is accented with sterling silver and a unique CDO charm.
For more info please click on the bracelet link. Bracelets come in S,M,L and special sizing by request.

Viewer mail

Here are a couple letters I recieved recently. This type of response makes it even more worth while!

Hi,
I learned about your blog through the Chromosome Deletion Outreach online support group. I just wanted to say I think what you're doing is so great! Sometimes it seems like there are so many organizations, charities and people in need, it's hard to know who to help or where to start. This way you are able to help many of them as well as learn about them with your family and raise awareness. You've really inspired me to start doing something like this.And thank you for supporting CDO, it (along with Unique) have been such a great support for me. I have a 20 month old daughter with a chromosome disorder. Because her disorder is so rare and each case so unique the doctor's haven't been able to tell us how this will affect her. At least this way we can be in contact with other families to learn about what we 'might' have to expect, have a place to talk about our concerns or just vent!, and to share our stories and inspire one another.

All the best,
S.K. (name has been withheld to protect privacy)


Wow!!! Lydias story brought me to tears....mainly because I know exactly where she is coming from! Our son Jacob was diagnosed with 17q21.31 deletion syndrome which like Lydia is very rare. As of now there are 25 reported cases worldwide, and VERY little information about it. But, through CDO and Unique I have been able to contact other families and share our experiences. Through those groups, other families of Chromosome 17 disorders, and my son I was inspired to begin a online support group for families of Chromosome 17 disorders through Yahoo. Members started flowing in slowly but surely. Now we have www.chromo17.com , which is in the process of becoming a non-profit organization. We are working extremely hard on chromo17 but it is not yet complete, but you are more than welcome to drop by and read our family stories. You'll notice my son on the top left hand side.

I could go on and on but Lydias story said it all...and I agree 110%. It is not only hard finding out that your child has a disorder, but it extremely hard when there is little to no information about it. The majority of rare chromosome disorders do not know what to look for in the future, we just take it day by day, and treat the symptoms as they come along.

I am making a difference by creating a place for chromosome 17 families to find information and support, which costs time and money. In closing I would like to ask that you go to these wonderful groups and read the family stories, and do whatever you can to help support these wonderful groups, every penny helps. If you can't afford to make a donation but have access to the internet then you can raise money for CDO by searching online please go to www.goodsearch.com , enter the charity Chromosome Deletion Outreach, then click verify and start searching and/or shopping!! It's that easy! Everytime you search or shop goodsearch will donate money to CDO. These groups are important to us parents in so many ways, they give us knowledge, hope, and so much more. What can you do to make a difference?

Sincerely,
Jacqueline Robertson
Chromo17-President
www.chromo17.com
info@chromo17.com

The Pajama Program

Every night Todd and I help the kids get their pajamas on, tuck them into bed and read them a story. It's one of our favorite times of the day. When I heard about The Pajama Program, I immediately knew I wanted to make a donation, but I felt like I wanted to do more than just that.

The Pajama Program was founded in 2001. It's mission is to deliver new pajamas and books to the most neediest of children around the world. These are the children in shelters, group homes, foster care, and other temporary living quarters while they await adoption. Many of these children have been neglected, abused and/or abandoned. Some of these children have never owned a pair of pajamas or a book before.

It was with this in mind that Todd and I decided we were going to have a drive for The Pajama Program. We put together a flyer. Todd used his February money to pay for the flyers in hopes that by creating the flyers we could turn his money into much more to help these children. Our kids school graciously agreed to allow us to have the drive there, and to circulate the flyers to all the parents. The drive is scheduled to be held the week of March 24. In honor of the program the staff and the kids are being encouraged to wear their PJ's on March 25.

For more information about The Pajama Program, how you can help, or hosting a Pajama Drive click on the link above. Anyone who would like to donate items in our drive my contact me a honeybee03@wi.rr.com.

An update on Patti the Hippo

With our help the kids school raised enough money to sponsor Patti the hippo at the Milwaukee County Zoo. For our contribution of $31 in pennies the school gave the stuffed Patti the hippo to Cole and Gavin as well as the I sponsored an animal decal. The schools name will be placed on the All in the Family Donor board for 12 months. The children will also be invited to a sponsor's only "Animal Safari" event at the zoo where they will be given behind the scenes tours.
We also were given a little more info on Patti, her mate Pinky and their "baby" Puddles. The kids are really looking forward to seeing Patti as soon as weather permits.

Family reaching out to family

Here is a recent email I recieved...

Hey,
Just thought I'd let you know what we are doing with our 'change for change'. We are pooling our family change and a bit more for my brother, Mike, who got laid off about a month or two back. (shortly after Christmas) We are taking it to my dad to pass off to him tomorrow. This way, Mike can't refuse 'cuz he won't know who it's from! Thanks for your idea.
Blessings...

Reaching out to Women in Need

The new Women's Center located in downtown Waukesha

"When women thrive, all of society benefits,

and succeeding generations are given a better start in life."
-Kofi Annan

Our second choice for January was The Women's Center. A local safe haven for women and their families throughout Southeastern Wisconsin. Since 1977 their mission has been to "provide safety and support to women and their families and to facilitate their development." With Todd's $31, and some bargain shopping I was able to purchase $52.00 worth of food for just $31.00! The items donated came directly from The Center's pantry wish list .

4 million American women experience a serious assault by a partner during an average 12-month period.

Through ongoing support from the community and other organizations like The United Way, The Women's Center is able to provide free and comprehensive services designed to address the issues of domestic violence, sexual assault and abuse. The center is able to provide a full spectrum of services to women and their families in need. Events & Communicatons Coordinator, Amanda Hunter says one of the biggest misconceptions about the women that who use their services is that they are all of the same class and social status. "Women of all races, ethnicities and classes utilize our services," says Hunter.

1 out of 3 women around the world has been beaten, coerced into sex or otherwise abused during her lifetime.

Sister House Shelter-provides safe, short-term housing and support to women and their children who are in imminent danger of domestic abuse. Domestic abuse and sexual assault counseling is available to women and children survivors of domestic abuse and sexual assault. Transitional living provides safe, affordable housing and support services to women and their children while they make the transition from an abusive environment to independent living.

Seventy-four percent of all murder-suicides involved an intimate partner(spouse, common-law spouse, ex-spouse, or boyfriend/girlfriend). Of these, 96 percent were females killed by their intimate partners.

Legal advocates help victims of abuse or harassment file temporary restraining orders and injunctions and also offer support to victims at court hearings. The Women's Center's community educator speaks to small and large groups in the community about domestic violence, sexual assault and abuse. A 24-hour Crisis Line staff at The Women's Center answer questions and offer support 24 hours a day, seven days a week.

On the average, more than three women are murdered by their husbands or boyfriends every day.

Employment counseling workshops and counseling are available to help men and women obtain or retain employment. The Family Support Project offers a variety of services designed to teach families positive ways to deal with stress, manage behavior, and communicate effectively. Emergency respite and onsite childcare provides parents and caregivers a break during stressful times or emergencies by using licensed daycare centers and foster-care homes.

1 in 5 female high school students reports being physically and/or sexually abused by a dating partner. Abused girls are significantly more likely to get involved in other risky behaviors. They are 4 to 6 times more likely to get pregnant and 8 to 9 times more likely to have tried to commit suicide.

TWC is making a difference one woman at a time, but they need our continued support. "The most beneficial thing the community can do to help is to donate funds. However if this is not possible, The Center is very grateful for donated goods (in kind donations) and volunteers, who help with various duties that make it possible for our organization to succeed," states Hunter. The Centers biggest fundraising event, the Anniversary Luncheon, is getting ready to take place April 25. For information on participation or on how you can help support the women and their families who so desparately need these services please contact TWC of Waukesha at 262-547-4600, or click on the link above. By email mail@twcwaukehsa.org . If you live in Southeastern Wisconsin and you are in need of help contact the Crisis Line at 262-542-3828 there is someone available to help you 24 hours a day.

JDRF: Helping Gigi Find a Cure

THIS IS THE FACE OF JUVENILE DIABETES

"If we don't stand up for children, then we don't stand for
much."-Marian Wright Edelman

Could you tell this 3 year old little girl you need to prick her finger for blood 6 times a day, plus a few in the middle of the night? Could you tell her you need to give her a minimum of 3-4 insulin shots a day? That is exactly what her parents must do. Gigi was diagnosed with juvenile diabetes when she was 22 months old. For kids like Gigi and her parents, juvenile diabetes means preparation and planning. Gigi can not be left with anyone that has not had comprehensive training on how to care for a child with juvenile diabetes.

Type 1 diabetes (which includes juvenile diabetes) is a chronic disease in which the body's own defenses (their immune system) attack the cells in the pancreas responsible for making insulin. Without insulin your body can not properly respond to blood glucose, a simple sugar your body uses to make energy. The glucose in the blood comes from the foods that we eat. Some foods contain higher amounts than others. People with diabetes must constantly monitor the amount of glucose they have in their blood. Too much, hyperglycemia, or too little, hypoglycemia, can lead to an emergency situation including coma and death. Parents of children with diabetes must be well educated about the disease and carefully monitor their children for symptoms.

As a child with juvenile diabetes, and as an adult Gigi may face many complications as a result of the disease. These include, but are not limited to:

• cardiovascular disease in its many forms (heart attack is the major cause of death in persons with diabetes)
• hypoglycemia which can lead to coma or even death
• nephropathy (It is a slow deterioration of the kidneys and kidney function.) which is the most common complication
• nerve damage which can result in numbness, tingling, and constant pain
• eye/vision disorders including blindness
• foot and leg ulcers which may result in amputation

Gigi's parents cite the wonderful care they've received at Children's Hospital, and the great support of family in helping her stay complication free thus far. Gigi thankfully is as happy as any other 3 year old. As many as 3 million Americans may have type 1 diabetes. Each year over 15,000 children are diagnosed with diabetes in the U.S. That's more than 40 children each and every day.

The costs of diabetes are staggering. The American Diabetes Association estimates diabetes costs this nation over $130 billion dollars a year. Currently there is no cure for diabetes. Gigi's parents however, as well as JDRF and many other reputable organizations believe Gigi will see a cure in her lifetime! The key to realizing this cure is through contribution.

This month I am making a donation in honor of Gigi to the Juvenile Diabetes Research Foundation. JDRF is the leading charitable foundation and advocate of type 1 diabetes research worldwide. More than 85% of donations go directly to funding research. Their mission is to find a cure for diabetes and it's complications through the support of research. Charity Navigator gives JDRF 4 of 4 stars! JDRF also includes links on their site showing ways you can help without spending any money. The Advocacy Tool Kit is one such way. This kit will tell you how to contact Congress to lobby for more government sponsored research etc... Walk for a Cure , Ride to Cure are just a few more ways you can be part of the cure. JDRF local chapters are also always appreciative of volunteers.
For more information on diabetes, it's complications or about the many ways you can get involved and help bring about a cure visit the JDRF website or by clicking on any of the links above.

Pennies for Patti

The greatness of a nation and its moral progress can be judged by the way it treats its animals. --Mahatma Gandhi

With that in mind, our first donation went to a charity my son chose. Pennies for Patti is a sponsorship program my son's school is participating in. With the help of other families, Their school has sponsored Patti, a hippo at the Milwaukee County Zoo. The children will all have an opportunity to go to the zoo for free and see Patti when warmer weather is upon us.

The Milwaukee County Zoo was an excellent first choice for our family. Their exhibits have provided countless hours of enjoyment, and education for our family! If you haven't been recently you really should go! Opportunities to sponsor an animal or get involved with other Zoo charities can be researched by clicking on the link above. Charity Navigator gives this charity 3 of 4 stars!

I had a heck of a time carrying $31 in pennies but the kids really got a kick out of it!