March, 2004 to September, 2005:
Ava’s first seizures occurred about a month after she was born. Up until then nothing seemed wrong. They started in her left arm only, and began with one or two rhythmic jerks. Over the next few days, they increased to 10-20 jerks at a time, spanning over a minute, occurring many times throughout the day. After a few weeks searching for the answer, she was diagnosed with Aicardi Syndrome and was placed on Phenobarbital and Keppra to combat the seizures, continuing on both up to about 3 months of age (6/04). We asked our first neurologist what we could do to assist Ava (i.e., therapies, treatments, etc.), and we’ll never forget how he coldly shrugged his shoulders and told us that “this is the way god made her”. Notice we say he was our “first” neurologist - his complete and utter lack of compassion was shocking, and that’s the last time we spoke to him.
Ava did not have any head control and, at 3 months, she experienced Infantile Spasms (more serious seizures which, if not controlled, could cause severe brain damage) and we started a year long series of treatment with Vigabatrin and Keppra. In 10/04, our second neurologist just about demanded that we switch Ava’s medicine from Vigabatrin to ACTH because he didn’t notice any substantial improvement in her motor skills or EEG results. We refused to switch, advising him that we thought Ava had progressed and that we were noticing subtle changes in her abilities and that we had made the decision NOT to go on ACTH based upon our research and the awful side effects Ava would have to endure while on ACTH. He basically stormed out of the room, and we never heard from him or spoke to him again. Needless to say, we switched neurologists again, to our third neurologist, who we completely trust and who actually listens to us, and seems to care about Ava - and, the very next month, as if by divine intervention, Ava’s Infantile Spasms stopped. Luckily, Ava only had the Spasms for about 5 months – Vigabatrin was a miracle drug for us and seemed to really knock out the spasms. We weaned her off Vigabatrin in 6/05.
Since 6/05, Ava has done exceptionally well. It’s like she is a different child. She is so alert and the smile that disappeared in the early days of Phenobarbital and Keppra has returned. We have seen incredible progress over the last few months and know from our own eyes that she is doing better each passing day. Our belief was confirmed in 8/05 when (and again, we hesitate to write this), Ava’s EEG showed normal brain patterns and background activity for the first time, with no signs of seizures. She has been seizure free since 11/04.
The 5 months of Infantile Spasms initially made Ava regress as to her motor skills, but her right hand has rebounded well and she is grasping things and self-feeding finger foods. Her left hand is still not interested in grasping items, so she has not yet been able to hold a cup or other items with two hands. As of the last month or two, Ava has begun to crawl and is slowly learning to bear weight on her feet, and, with the use of a Stander and Gait Trainer and lots of Aquatherapy in our pool, her legs seem to be getting stronger by the day so that we hope that walking is no longer an unreachable goal. Swimming is one of her favorite things and, as she’s gotten a bit more mobile in the pool and out, we’ve noticed that she’s shed a few pounds of her baby fat
(she’s still a little chunkster, though!) She eats very well, drinks from straws of all sizes (she even sipped a really thick McDonald’s Chocolate milkshake to our surprise – sipping the shake was hard enough for us because it was so thick – but it was her first taste of chocolate so we guess she was motivated!). She knows how to roll, can prop herself up with both arms and is currently starting to show signs that she wants to sit up and crawl on her own. She is very alert as to her surroundings and her vision and hearing are excellent – one thing is for sure, if there is a TV in the room, even in a dark, isolated corner behind her, she will find it! She smiles all day long and her giggle/laugh is absolutely contagious. We often say that although we wouldn’t wish an Aicardi Syndrome diagnosis on anyone, we wouldn’t change anything because we feel so lucky to have her in our lives. She has truly taught us more than we have taught her.
We are expecting our second daughter in November, 2005. We look forward to Ava having a sister to play with and hopefully explore new possibilities. We know our new arrival will enhance all of our lives and are busy finishing her room and some other home improvements prior to the big day when we bring her home.
October, 2005 to August, 2006:
On October 31, 2005, our 2nd daughter, Lilly Kaye, was born. Our house just got a whole lot more hectic! Now there are two infants in the house – guess this is what having twins is like! During Lilly’s first year, as Lilly has begun to stand, hold her bottle and do so many things that Ava had yet to do, we noticed that Ava was paying increasingly more attention to her sister. The other day, Ava and Lilly were playing with the same toy, and we tried getting Ava to spin the wheel, which she refused to do. But then Lilly spun the wheel, and suddenly Ava reached for it and now does it regularly. Who says sibling rivalry is a bad thing?!
Ava’s seizures stopped from November, 2004 through February, 2006 but, sadly have returned. They occur almost only always while she is sleeping or in the process of waking up, so, luckily, we have not experienced her falling down on the tile or outside while she is awake. We continue to experiment with different doses of seizure medicines and over-the-counter Melatonin in an effort to regulate her sleep regimen, which, aside from her seizures, is her biggest issue.
Our home was greatly damaged by the Hurricanes of 2004-2005 (Adam, Lissa & Ava and I stayed in our closet and we watched Baby Einstein videos with Ava for hours as the storms raged!) We are in the process of putting a new roof on our house, rebuilding a portion of the house and closing in our garage to make a part of it a gym for Ava (and us!) and hope to have it completed by the end of October, 2006, in time for a Halloween Costume Party to raise money for the Aicardi Foundation. With all of the problems we had with Ava, and the Hurricanes, we have dropped out of the social circles and lost touch with a lot of our friends/colleagues, and we are definitely looking forward to reuniting with everyone again. Most likely we’ll be putting the finishing touches on the house as the guests arrive!
September, 2006 to September, 2007:
Ava continues to thrill and amaze us and surpass all of our expectations for her and us as a family.
Ava has been cruising in her crib and propping herself up against furniture, and is able to stand against furniture for long periods of time, especially if she is watching a cartoon or Baby Einstein video. Still no speech, but she recently began to mimic a few sounds and hum along to the tune of a number of the children’s cartoons she loves (JoJo’s Circus and Little Einsteins are a few of favorites). Her motor skills have improved such that she’s able to finger feed with her right hand, and we’re hoping that therapy will promote her use of her left hand so that she might use both hands to hold a cup soon. Although she’ll always be low-toned, she is really, really strong, perhaps due to working a lot in our pool, which she still loves (the other day, we got in and got out immediately because of lightning and she started to cry so hard! So, she is definitely communicating with us and she sure knows what she wants and likes!) Ava can now touch her nose and/or belly when asked and clap her hands and act out the “itsy bitsy spider” song, and she really loves all kinds of music. Of all her wonderful characteristics, her greatest attribute is definitely her smile - she seems to be happy all the time and she really lights up the room when she smiles. We continue to count our blessings as she progresses at her own pace (she’s on “Ava time”!).
Ava completed the State of Florida’s Early Intervention Program when she turned 3 in March, 2006, and attended pre-Kindergarten Summer School for a few weeks with the help of a one-on-one assistant and a private van rather than a bus (to avoid both overheating and the chaos of a crowded bus-ride to school, which we were concerned might promote more seizure activity). She adjusted to “school” very well and we think she enjoyed interacting with other children in a group setting for the first time. A few weeks ago, she started “real” pre-K at ARC (formerly the Association of Retarded Citizens) where she is receiving in-class Speech, Vision, Occupational and Physical Therapies. ARC has a “verbal/mobile” policy, meaning that it will continue to work with a child until he/she becomes verbal and/or mobile – so we’re hoping Ava gets expelled real soon! We’re ecstatic that she has developed to the point where her participation in school is possible, but still nervous about our little girl being in the real world and hopeful that the other children (and the rest of society) will be accepting of her.
Currently, Ava’s seizure activity consists mostly of myoclonic jerks that occur only during sleep, about 4-5 times a week, although the past few weeks she has, for the first time, had seizures while awake (usually when over-tired or startled). Aside from the seizures, Ava’s biggest issue continues to be sleeping – she has consistently awakened at 1-2 A.M. and remained awake for the rest of the night, eager to crawl around and play with her toys. No amount of medicine seems to help. Our search for sleep (for Ava and for us!) led us to a number of alternative medical techniques, such as Cranial Sacral Massage Therapy, Magnetic Therapy, Chinese Medicine/Homeopathy, Neurological Bio-feedback, Aquatherapy and a Detoxification Program, all of which have had very positive impacts on Ava. After much soul-searching, we recently decided to wean her off ALL of her seizure medicine (she was most recently on Keppra) as we were concerned that continuing to increase her dosages of medicines to deal with her seizures would subsequently damage her liver and other organs and keep her in a “trance-like” state. As we have decreased her dosage, we realized that her Eczema, a rash-like skin condition which she has had for 2+ years and for which we have treated with just about every ointment and medicine, has decreased drastically. Who knows what other issues these medicines are creating in her body?
Our 2nd daughter, Lilly Kaye, will turn 2 in October, 2007, and she is talking, walking/running around the house and climbing on everything. Ava has been watching her more lately, and hope that Lilly’s spunkiness rubs off a bit on Ava and spurs her to try and do more. We also witnessed the most precious thing the other day, when Lilly obviously recognized that Ava could not use her own cup and, on her own, brought over the sippy cup to Ava and held it to Ava’s mouth in an attempt to help Ava drink from it. Like another mommy. Totally a Hallmark moment!
Our 2006 fundraiser on behalf of the Aicardi Foundation raised over $18,000.00 and brought us a tremendous amount of joy and satisfaction, and we have decided to make it an annual event. We hope that any non-Aicardi families who read this will pitch in, even in a small way, to assist the Foundation with its efforts to raise money for research and to assist some of the financially needy Aicardi families with supplies, equipment and travel expenses to and from the bi-annual Convention.
October, 2007 to September, 2009:
Ava began to walk in December, 2007! Our joy was impossible to contain - we couldn’t wait for everyone we ever knew to see her two-stepping around (since she’s still left-side weak, she has a tendency to make a lot of left turns, but who cares, she’s walking!) Although we always thought/hoped she would walk, we are positive that the therapy she received at ARC, and the incredible compassion of her ARC therapists, greatly accelerated that process. She also began to take a more active interest in feeding herself. With her newfound mobility, Ava’s whole life has changed – she no longer is content to stay in the playroom for hours at a time,
but instead wants to explore. She enjoys being outside, taking walks, bicycle rides on her 3 wheeler (as long as she wears the harness since she still forgets that she needs to hold onto the handlebars). She lost a bit of her chunkiness from getting more exercise, and, due to ARC’s verbal/mobile mandate, did, in fact, get expelled from ARC. We say “expelled’ tongue-in-cheek – it was bittersweet – we loved ARC and had hoped she’d be able to complete a 2ND year there because the therapy she received was so wonderful, but because she was moving around the classroom and pushing all of the doors open, it became a safety concern and we agreed it was time for her to meet some new challenges).
As Ava was finishing her time at ARC and we were preparing for her transitional IEP and generally having absolutely nothing else to do, we had another baby in April, 2008! We had labored about whether to have another child and, after much soul-searching, we decided that we should not refrain from doing so simply because of Ava. We also thought that she might benefit from another sibling as well as wanting Lilly to be able to experience having an active sibling, too, since, to this point, there had been little meaningful interaction between Ava and Lilly. Of course, nothing comes easy, so Lissa was on bed-rest for 4 months, gave birth to Zane 6 weeks early with an emergency C-section (during the same week that Adam was moving his law office after being in the same location for 20 years) – you get the picture – total chaos. We spent 3 weeks in ICU because Zane was a preemie and had developed some respiratory issues and, although it was like reliving the aftermath of Ava’s first few months, we are ecstatic to say that Zane is 16 months old, and appears to be on his way to becoming a middle linebacker – he’s strong, huge and chasing Ava and Lilly around the house! With 3 kids 5 and under, we’ve lost total control of our lives, but our house is a loud and loving and happy one (except when we tell Lilly she can’t have another cookie or chocolate cake).
Ava began to attend pre-K at Eisenhower Elementary in August, 2008, taking a bus with the assistance of a one-on-one aide and experiencing a school environment, albeit in a Special Needs class of about six students. She still receives Speech, Vision, Occupational and Physical Therapies. She seems to enjoy it, but we think the bus rides really wipe her out. Luckily, we were successful in making sure that she did not take naps at school or on the bus rides, so we were never faced with a situation where she had a seizure at school or on
the bus. Her attendance was spotty, as she seemed to pick up every little cold or cough, either from the other students at Eisenhower or from Lilly, who began attending Daycare and brought home all sorts of germs, too. Nonetheless, her pre-K experience saw her play on the playground, and enjoy music through circle time and start to learn sign language. She knows a few signs (please, thank you, hello, goodbye) and, although still non-verbal, is definitely communicating with us. Potty training has been frustrating – sometimes she does well, other times, well, you know! We kept her home over the summer to spend more time in the pool and, in August, 2009, she transitioned into Kindergarten. Another Special Needs class, with 5 other students and 5-6 teachers/aides, all of whom are so caring and wonderful. Can’t believe she’s in Kindergarten!
We had Halloween Costume parties to benefit the Aicardi Foundation, in October, 2007 and October, 2008, and now have raised, in three years, over $43,000.00, with our 4TH Annual even scheduled for October, 2009.
Ava had been completely weaned off Western Medicine from August, 2007 to June, 2009, and her personality was more calm, less volatile. However, her sleep problems persisted (up 4-5 nights per week from 1-2 A.M. through the rest of the night) forcing us to place her back on Keppra, as well as Choral Hydrate in July, 2009. Although we were reluctant to put her back on medicine, it has helped her sleep through the nights and has helped with her seizure activity. In August and September 2009, our entire family was engulfed in a cloud of health-related issues: Adam’s Dad had an unexpected quadruple bypass procedure and, while he was recuperating, his mother was diagnosed with cancer – both were in the hospital at the same time, in different facilities, until Adam’s mom traveled to an out-of-state facility to receive special treatment. Meanwhile, Ava and Zane both had Swine Flu and our nanny, Rachel, was hospitalized, too. What a mess! As of this writing, we’re thinking of applying for our own soap opera/reality TV show, although nobody would believe it!
Ava still exhibits many Autistic qualities (repetitive motions, limited attention span, likes to clap a lot) and knows the alphabet and lots of songs (she hums!). To our amazement, she is also capable of some incredibly intellectual feats that defy logic (she can identify states on a map, do math problems beyond her supposed capacity, spell words and read full sentences and point to multiple choice answers with surprising accuracy – but only for short spurts of time, and only when she feels like it). We are very encouraged by the possibilities of these new-found cognitive abilities, but mindful of the balancing act between her potential and present skills. Still, though, the brain is an amazing organ and we have witnessed some things that cannot be explained other than we are no longer bound by the initial expectations of the Aicardi diagnosis – she has shattered those expectations and we are now along for the ride – go Ava!
One of the happiest days of our lives was Ava’s 5TH birthday, on March 15, 2009. For the first time, we invited all of our friends and family over, with all of their kids, about a 100 people, to share our joy and help us and Ava celebrate. We rented a giant bounce-house and had a pool party (those are Ava’s two favorite things) and, for that one day, we didn’t think about germs, seizures, insomnia, medicines, EEGs or anything other than sharing her day with her and the people who had been there for us – it was special for Ava and for us – the perfect day. It is days like that where the pain, struggles and sacrifice seem minimal – may you all have the pleasure of experiencing that perfect day. Meanwhile, may you all be blessed with good health and happiness.
Adam & Lissa Gumson
09-29-2009
