Hello Aicardi Families! What a joy and blessing it has been to be able to join this wonderful group and find a kind of support we can’t find anywhere else. Our daughter Annie is 7 ½ years old. Here’s a little about her story.
Diagnosis
When I was 36 weeks pregnant I had a routine ultrasound and the technician remained silent as she focused only on the brain of our unborn baby (whose sex we still did not know). After the obstetrician studied the ultrasound he determined our baby had hydrocephalus and a surgery to place a shunt just after birth would solve the problem and our child would live a happy, healthy, and normal life. So, we went to Fort Worth, Texas to spend the last month of the pregnancy there so we could have the expertise of doctors at Cook’s Children’s Medical Center. Once there, more ultrasounds were done and an MRI to monitor the severity of the supposed hydrocephalus to insure no brain damage was occurring from increasing pressure. The MRI, however, revealed that the problems were much worse than just large pockets of fluid. We learned that Annie had a severely under-developed brain, which allowed the fluid to build up in all the empty space. She was missing her corpus collosum entirely, and the brain tissue she did have was lacking normal creases and folds. The gray and white matter of her brain was all mixed together rather than being distinct and separate. We were also told she had a cyst the size of a golf ball where her corpus collosum should have been and another cyst the size of a marble just above and to the side of the larger one.
We were told that our baby might not survive birth, and if she did, she would be severely retarded and developmentally delayed. Doctors then asked us to write up our wishes for our child and dictate what measures we wanted taken (or not taken) to save this baby. We decided against any heroic measures to save her, believing that we only needed faith that God would do whatever was best for this child. Surgery would not occur after her birth since the disability was more severe than anticipated, and doctors agreed that no kind of surgery would be beneficial.
On May 24, 2002, after a long and difficult labor and delivery, our little girl, Annie Michelle Tolman, was born with no medical complications. She behaved as a normal newborn, however, later that day, Annie had two seizures and turned blue. However, we were discharged two days later and took Annie home to Austin. She was immediately enrolled in hospice and continued in that program until she was 3 years old.
Because of possible eye problems that can result from a seizure medication Annie was taking, our neurologist suggested we take Annie to see an ophthalmologist. It was this day, January 9, 2003, when Annie was 7 months old, that her eyes were examined, and she was diagnosed with Aicardi Syndrome. It was such a relief for us to be able to put a name with her conditions, finally research about the syndrome, and most importantly, talk to other people who have daughters with the same condition. What a life saver!
Seizures
Annie began having seizures the day she was born. Over the first year, she had several seizures (infantile spasms) on a daily basis. As she got older, Annie began having occasional grand mal seizures in addition to the infantile spasms. Currently her seizures are well controlled. Annie now has infantile spasms about twice a week, each lasting 5-30 minutes. She has grand mal seizures usually in clusters (2 or 3 at a time) occurring every 2-3 months.
Drugs
Some drugs that Annie has been on in the past include: Phenobarbital (seizures), Depakene (seizures), Zantac (acid reflux), Reglan (GI motility), Zofran (vomiting), Erythromycin (GI motility), Prilosec (acid reflux), Carafate (bile reflux, vomiting), and Bethanecol (vomiting), Robinal and Scopolomine (inhibit secretions).
The drugs Annie is currently taking are: Vigabatrin (seizures): 750mg BID, Prevacid (acid reflux): 30mg QD, Baclofen (high muscle tone): 2cc TID, Singulair (allergies): 5mg PRN, Miralax (constipation): 2-3 t. twice a week, Cipro: 500mg QD (chronic UTIS), and Diastat (seizures—emergency use): 7.5mg PRN.
Vision
Annie began seeing the ophthalmologist at 7 months old, when she was diagnosed with Aicardi Syndrome. At that same time, we learned that she had retinal lacunae, or holes in her retina, causing her vision to appear like Swiss cheese. Annie also got her first pair of glasses at this age since they determined she is far-sighted in one eye and near-sighted in the other. After Annie was about a year old, she began crossing her right eye, which is weaker, so we began patching her left eye a few hours every day to strengthen the right eye. Since then, Annie has gained strength in her eye and the crossing has lessened. Annie receives vision therapy at school to help her make the most of the limited vision she has.
Physical Therapy
At 11 months old, Annie started physical therapy. Her head control, trunk control and trunk strength have improved dramatically. Annie has a Gazelle stander at home and can tolerate standing in it for about 10 minutes at a time. But at school she uses a fully upright wooden stander and tolerates a little more. Although she has braces for her feet and ankles, her ankle tendons are still really tight and continue to be monitored.
In March 2007, we learned that Annie’s left hip is fully dislocated. We are leaving her hip out of socket because it does not cause her any pain. Hip surgery to reset it has enough risks and complications that it’s not worth putting her through surgery. Annie has had times when it has been painful to her, as well as her increasing muscle tone in her right leg and ankle, so Annie has received Botox injections to help release that tone and make her more comfortable. She is also on oral baclofen to help with the tone. Doctors expect that Annie might need a baclofen pump surgically placed in the next couple years to help give her better relief. Although Annie recently had a tendon lengthening surgery on her right ankle which should give her more range of motion. Because of a chronically dislocating kneecap, Annie also had surgery to fix her knee and prevent more dislocations. Annie sees her pediatric orthopedist regularly to monitor her ankles and hips, as well as her scoliosis and kyphosis in her spine which tend to be pretty stable.
Occupational Therapy
Annie started occupational therapy at 15 months old to try to help her learn to grasp objects and to learn to put enough weight through her arms to push buttons on toys. Annie has mastered the ability to reach for her dangling toys and will now consistently play with toys on her wheelchair tray. Annie is continuing to learn how to close her hand around objects to grasp them and has dramatically improved her grip although it is still not firm or long-lasting.
Feeding Problems, Speech Therapy, and Surgery
Annie nursed after birth, but was struggling enough that we started her on a bottle when she was a month old. When Annie was 8 months old, she started solids, and to doctors’ surprise, did very well. Annie ate pureed foods by spoon for a while as well as a little Pediasure from a bottle. However, when Annie was 20 months old, she began speech therapy to help increase her intake of Pediasure. Before starting, Annie did a barium swallow study which showed she was silently aspirating on liquids, and had a weak and inefficient swallow. So Annie started drinking thickened Pediasure through a squeeze bottle and straw to reduce her risk of aspiration and pneumonia.
In December 2003, Annie began suffering from persistent vomiting. She began eating only thickened Pediasure, and was only taking in 10 oz. a day. For the next 6 months, Annie threw up several times a day and was beginning to lose weight rapidly. Annie was on Zantac, Prilosec, Erythromycin, and Reglan to try to solve reflux and gastric emptying issues, none of which helped. In June 2004, our doctors were telling us that Annie’s condition was deteriorating so quickly that she was not expected to live through the next month without some kind of surgical intervention. After many prayers, we felt that it wasn’t time for Annie to leave our family, and on June 15, 2004, she had surgery to get a G-button feeding tube placed directly into her stomach, a fundoplication to make it harder for her to vomit, and a pyloroplasty to help her stomach empty more efficiently.
During the next two months, Annie received 3 bolus feedings per day through her G-tube, gaining 4 lbs, and began to get energy and smile more. She did very well with her new G-tube feedings until August 2004, when she started retching and eventually throwing up bile daily, sometimes as much as 15 times a day. That fall and winter Annie tried different formulas such as Peptamen Junior, and Vivonex Pediatric to rule out any food allergies, which we learned she didn’t have. So Annie returned to regular Pediasure and Pediasure with fiber. She was also put on Zofran to help with the vomiting, but it only caused worse seizures. She then tried Carafate to protect her stomach from all her bile, as well as Prevacid to reduce stomach acid to better protect her esophagus. After battling such severe retching and vomiting of bile for 7 months after having her surgery, Annie’s doctors had no explanations for her problems. Annie had an ultrasound to check her liver, kidneys, gallbladder, and pancreas; an MRI to check for changes in pressure in her brain; and series of blood work to test for hormonal issues and other possible problems, which results all came back normal.
It became very difficult to watch Annie suffer daily and not be able to help her. Doctors were finally telling us to take Annie to Texas Children’s Hospital in Houston to get more experienced professional help. At the end of June 2005, we were finally able to go to Houston to see a gastroenterologist from Texas Children’s Hospital. He determined that Annie was suffering from dumping syndrome, although she had no other symptoms besides the vomiting. He put her on continuous 24-hour pump feedings and we left feeling overwhelmed and disappointed. Having Annie hooked up to her feeding pump 24 hours a day was very difficult so we began slowly increasing the rate at which the food was being pumped in. She began tolerating faster feedings, and she is now getting 3 cans of Pediasure a day by pump, over about 2 ½ hours per meal. At night Annie gets water with Pediasure by pump. After dealing with such chronic vomiting issues for a total of 18 months, we feel very blessed that Annie is now doing well with her GI issues and now only vomits when she is really congested from a cold or allergies.
At 7 ½ years old, she’s now 52 lbs. and 51 inches tall. Getting her G-tube and resolving her vomiting issues dramatically improved her nourishment, but it has also brought out her personality more than ever. She is much more alert and vocal, and will smile at almost anyone who talks to and smiles at her.
This past year Annie has struggled with recurring urinary tract infections which sometimes have not shown any symptoms. Because of this, Annie had several renal sonograms, a VCUG test to see if she is damaging her kidneys with urine reflux, as well as a urodynamics test. Her urologist cannot find any cause for her UTIs and expects that we will have to catheterize her to fully empty her bladder several times a day. We were devastated by this news and vowed to do all in our power to stop the UTIs. We started watching her hygiene more closely and dramatically increased the amount of water we’ve been giving her. Since then the number of UTIs has dramatically decreased. She has also started taking prophylatic antibiotics which have helped dramatically.
Annie also struggles with severe staining on her teeth because she doesn’t eat anything by mouth. Her dental appointments are very difficult for her physically, and for us emotionally. Because Annie is so highly orally defensive, she does not tolerate anyone touching her mouth, much less trying to scrape her teeth clean, and aspiration becomes an issue as well. Because of this, Annie requires dental cleanings every couple years in the hospital where she can be under general anesthesia. Annie currently receives speech therapy to help her be less orally defensive and help her someday learn how to eat some food by mouth again. The process is very slow and it’s hard to see progress, but lately Annie has been better tolerating having her teeth brushed which is a huge accomplishment for her.
Sleep Issues
Annie has shown signs of sleep apnea since she was a small child (about 2), but it wasn't until August 2009 that we took her for her first sleep study. The result were stunning. Annie was having 120 episodes of sleep apnea a night, some episodes lasting over a minute with oxygen sats in the 70s. So Annie had her tonsils and adenoids removed in October 2009. Her follow-up sleep study after surgery, unfortunately showed that the surgery had no impact on her sleep apnea. So she continues to sleep with oxygen and will soon be starting CPAP.
School
Annie started attending the PPCD (Preschool Program for Children with Disabilities) class at Doss Elementary in Austin when she was 3 years old. She also attended 2 summer school sessions at Rosedale Elementary. She absolutely loved her time at Doss and Rosedale and enjoyed all the activities she got to be included in, as well as her wonderful teachers and aids.
After moving to Leander, Annie attended the ELE (Early Learning Environment) class at Block House Creek Elementary in our neighborhood as well as the ICAP (Individual Community Academic Program) class at Cox Elementary where she was also integrated into the regular 1st grade class as well. At school Annie uses a switch to make choices, play music, operate other toys, listen to books, communicate with teachers and classmates, and take turns in classroom activities. Annie has learned her colors and shapes, and can correctly pick a given shape or color given two choices. One goal she is working on this year is to pick a given shape or color given three choices. She also enjoys an adapted swing she gets to use in her classroom. Annie attends an adaptive P.E. class, and receives all her other therapies at school as well. Her therapists and teachers there are so wonderful!
Annie also spends a lot of time in her regular 2nd grade class, participating in calendar time, story time, art, music, and theater. Needless to say, she has many fans there! She absolutely loves school!
Nursing Care
In the fall of 2006, we had the huge blessing of finally getting into the Texas State Medicaid Waiver Program called MDCP (Medically Dependent Children’s Program). This program allowed Annie to receive full disability Medicaid benefits regardless of our income or resources. The waiting list for this program was 7-8 years long, and Annie had been on the waiting list since she was a few months old. We did not anticipate getting in this program for several more years due to the long waiting list, but thanks to wonderful moms in this group, we were able to learn of a loop-hole for getting into the program. That loop-hole was called the Rider 28 program that required Annie to stay in a nursing home facility for 24 hours. So in August 2006 she was admitted to Bell County Nursing Home in Temple. After being discharged 24 hours later (and after weeks of paperwork) Annie was officially enrolled in the MDCP Medicaid waiver program. We have been blessed to gain immediate enrollment in Nebraska's similar Medicaid waiver program and it continues to be a huge blessing in our lives.
This program also provides us with 18 hours a month of private, in-home nursing care. So we have a wonderful nurse who comes to help us out with Annie. We feel so blessed to be in this program and help Annie get the care she needs.
For Fun
Annie likes riding in her wheelchair (Quickie Zippie IRIS) on walks or errands, watching TV, reading books, and playing with toys (especially mardi gras beads) on her wheelchair tray. Annie really enjoys people just holding her and talking to her, and is a very cuddly little girl. She loves being around other kids and interacting with them. It has also been fun to watch her little sister Molly learn to play with her more. Molly loves climbing on Annie’s wheelchair to sit with her on walks or to just watch TV with Annie. Molly also loves showing Annie her books and other toys, which Annie also really enjoys. Lexie is still little, but she loves pulling up to Annie’s wheelchair and playing with her straps or G-tube.
It continues to amaze us how much joy Annie can still find, and bring into other people’s lives despite all her struggles and challenges. She really is a little trooper! We—along with Annie’s teachers, therapists, and doctors—are so surprised at all she has been able to accomplish. We are so proud of her! We are so grateful to have Annie in our family. She is such a special girl who has brought so many blessings to our family and has touched so many lives. We love her so much!
Sincere thanks to all the people in this group who offer such great support!
Annie's Song of Love
As a present for Annie’s 4th birthday in 2006, an organization called Songs of Love wrote a song especially for Annie. (Songs of Love writes special customized songs for terminally and critically ill children.) To listen to Annie's song, please visit our Family Blog
For more info and pictures visit our Tolman Family Blog
12-21-2009
