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.
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
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), Miralax (contsipation), Cipro (chronic UTIs), prednisone and Pentasa (ulcerative colitis).
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.
In 2009, Annie was diagnosed as legally blind due to her retinal lacunae, however her functional vision is still rather good. She does receive vision therapy services at school and has improved her ability to track objects and use her vision. In 2011, Annie received a Dynavox Eye Gaze communication computer that allows her to make selections and communicate using a computer based on where she looks on the screen. It's been fun to see her gain a small sense of control in her world. By the time Annie was about 11 years old, her vision had corrected itself enough that Annie no longer needs glasses.
Physical Therapy and Orthopedics
At 11 months old, Annie started physical therapy. Her head control, trunk control and trunk strength have improved dramatically. Annie used a Gazelle stander and used to stand in it about 30 minutes a day, but at age 10 she quit using a stander due to a chronically dislocating kneecap. 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 has also taken oral baclofen to help with the tone. Annie has also had a tendon lengthening surgery on her right ankle which gives her more range of motion. Because of chronically dislocating kneecaps, Annie also had surgery to fix her knee and prevent more dislocations but surgery was unsuccessful. So Annie later had both of her kneecaps surgically removed.
Annie sees her pediatric orthopedist regularly to monitor her ankles, hips, and spine. Annie also had spinal x-rays every 6 months to monitor her scoliosis. Her curve began around age 2 and stayed at 11-18 degrees for several years. By 2013 Annie's curve jumped to 89 degrees and was putting strain on her heart on lungs. In December 2013 Annie had her 10 hour spinal fusion surgery to place two metal rods down the length of her spine from her neck to her pelvis in order to help straighten out her spine. It was a very scary and dangerous procedure, during which Annie required a blood transfusion of 1.5 times her body's blood volume. Annie pulled through it and began recovering well, however, by January 2014, Annie developed a very serious and life-threatening infection along her spine from the surgery. She was hospitalized again for 3 weeks and underwent two additional surgeries to try to remove infected tissues and bone grafts. Annie spent the next 3 months receiving IV antibiotics through a central line and then transitioned to a year-long course of some very heavy-duty oral antibiotics. Annie's spine is doing well now, although the risk of re-infection remains high. If re-infection were to occur, Annie would need surgery to have the two metal rods in her back removed.
Occupational TherapyAnnie 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 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. Annie has also learned to use communication switches to interact with her peers at school and better participate in activities with others.
Feeding Problems, Speech Therapy, and GI Issues
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 formula a day by pump, over about 2 ½ hours per meal. At night Annie gets water with formula 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 or has difficult seizures.At 16 years old, she’s now 65 lbs. and over 5 feet 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.
The staining on her teeth has improved dramatically since Annie has undergone a series of salivary gland surgeries. In 2011, Annie traveled to Ohio twice to have her submandibular and sublingual glands injected with a solution that would kill the glands. Unfortunately, she developed a ranula (cyst) and in the fall of 2011, Annie had her sublingual glands completely removed and her submandibular glands tied off. She is now drooling much less, and her gagging and vomiting have improved, as well as her risk of aspiration decreased. 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 Annie required CPAP at night, which was difficult for her to tolerate. Thankfully, and rather miraculously, sleep studies now show that Annie's oxygenation levels don't drop low enough to justify the CPAP any longer. So now everyone is getting much better sleep!
School
Annie started attending the PPCD (Preschool Program for Children with Disabilities) class at our neighborhood elementary school in Austin, Texas when she was 3 years old. She also attended 2 summer school sessions in Austin. 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, Texas, Annie attended the ELE (Early Learning Environment) class at our neighborhood elementary school as well as the ICAP (Individual Community Academic Program) class at a school in a nearby town 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. Annie has also started learning letter and word recognition and can accurately identify the written names of the people in her family. 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 are so wonderful!
As a junior in high school now, Annie spends most of her time in special education classrooms, participating with the help of an aide. Annie uses her communication switches and Dynavox computer to interact with peers and be included in activities. She has many fans at school and we love hearing about how much all the other kids want to help her! 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 our support 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, Texas. 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 30 hours a month of private, in-home nursing care. It's not much, but we have loved having a wonderful nurses aide come to help us out with Annie so Justin and I can get a date night each week. 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 talking to her and being with her. She loves being around other kids and interacting with them. It 's also fun to watch her little sisters Molly and Lexie play and interact with her. Molly and Lexie love reading Annie her books and other toys, which Annie also really enjoys.
It continues to amaze us how much joy Annie finds, and brings 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. She is a true example of unconditional love, faith, and strength. She is my hero, and I consider myself incredibly blessed to be her mother. We love her so much!
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