"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 o
ver 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.
ver 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.
