Gabe using a Braille machine
This past weekend our family attended the Biennial LCA Family Conference in Boston, and I have been on a post conference high ever since. It was at this conference two years ago that we first connected with other families affected by LCA, and where we learned about future, potential cures for blindness. This year's conference was exciting, as we witnessed first-hand some of the progress that is being made on the research front. Gavin Stevens with Dr. Pierce
To date, there are 19 known genes that cause LCA. When Gabriel was first diagnosed with the disease in 2011, our gene mutation was still unknown. By the time we attended our first conference in 2012, the discovery of our disease-causing gene , NMNAT1, was being published in the scientific journals. Two years later, Gabe's doctor, Dr. Pierce, and his lab are preparing to start a NMNAT1 gene therapy trial on mice. To those of us waiting for a cure, the process seems slow, but in reality, this research has been moving forward at a fast pace in scientific terms.
The efficacy of gene therapy for treatment of LCA was proved with clinical trials aiming to improve vision in those carrying the RPE65 gene mutation. Although the genetic cause of the disease is different, and the presentation may vary, the end result is the same, retinal degeneration and blindness. The RPE65 gene was discovered to cause LCA in 1997, and the first human gene therapy trials were performed in 2007/2008. The results of these trials are what give us tremendous hope for a cure of all forms of LCA. The children in the trial, especially, had amazing results. Some went from being legally blind to reading print books, playing baseball, riding a bike, and of course being able to get around without a cane. The lead researcher, Dr. Jean Bennett, gave an update on some of the trial participants this past weekend. The children are now teenagers. One was attending a summer camp independently, another has been scuba diving, and one also just received his driver's license. A driver's license? When I first contemplated possible treatments for Gabriel, I would have never imagined that the vision restored would allow for driving a car. So how exactly does gene therapy work?
In layman's terms, a viral vector containing the corrected copy of the mutated gene is added to the retina via a tiny needle. The corrected gene then allows the retina to function properly. LCA caused by Gabriel's gene mutation (NMNAT1), results in an under-production of an enzyme, which in turn effects protein production. Theoretically, once the corrected gene is introduced into the retina, a biochemical change occurs allowing, in Gabriel's case, the proper function of this specific enzyme. The photoreceptors, the light-sensing cells of the eye, are directly effected in the LCA disease process. Not only do they not function properly, but over time they begin to deteriorate. Gene therapy only benefits those patients that still have viable photoreceptors left, so time is a factor. What does this mean for Gabe specifically????
I have been thinking about this question A LOT! When Gabriel had his eyes examined at the conference, the doctor explained how treatment could possibly help Gabe in the near future. The NMNAT1 mutation causes severe blindness from birth, but the disease process with this gene seems to move slowly from then on. At least that is what we think. The doctor observed large portions of healthy retinal tissue in Gabriel's eyes, and the lesions on his maculas are still small. This means that he still has viable photoreceptors that could give him possible peripheral vision if he is treated with gene therapy. The fact that the lesion is concentrated in one spot is also good.
We had the privilege of touring Dr. Pierce's lab, where the research is being done on Gabriel's gene. Meeting the researchers in person was incredible. We could sense that their work goes beyond scientific curiosity. These researchers and doctors truly care about the people whose blood samples are housed in their labs! This past year, they have completed the first step in getting to a human trial, the creation of a mouse model. Yes, there is a little mutant mouse, maybe named Gabriel, who was created to mimic the NMNAT1 LCA disease process! Once the lab has enough mice for the study, the actual gene therapy experiment will begin. We were told that one of the mice is pregnant! Yay! If everything goes well, we could be in a phase 1 human trial between 1.5 and 3 years from now.
Since Gabriel's maculas have lesions on them, the therapy may only provide some peripheral vision, but this would improve Gabe's quality of life tremendously. He would go from having nothing to something, and it can be seen as a stepping stone. Gene therapy isn't the only potential answer in treating retinal diseases. There is a lot of research being done with stem cell therapies, especially for the eyes. Bert and I have been following the studies being done on pluripotent stem cells. Researchers are now able to take a skin or blood sample from a patient, revert the cells back to a pluripotent (embryonic-like) state, and coax them to become retinal cells. The idea is to create a patch of a sort, rich in photoreceptor cells, to replace a deteriorated retina. This kind of treatment could eradicate many forms of blindness, as the genetic cause would be irrelevant.
I am more and more convinced that LCA will have a cure one day, and I have high hopes that it will be within Gabe's lifetime. LCA is a very rare disease. There are approximately 3000 affected individuals in the United States. When it gets broken down further into the 19 known genes, only about 150-200 individuals are affected by Gabriel's mutation. These statistics play a large role in possible funding for a cure, and yet the research for LCA has out-paced other more common diseases. The Foundation Fighting Blindness has played a large role in fundraising, but so have regular families, in the hope of finding a cure for their loved ones. The conference we attended was hosted by the FRR, a foundation started by the Brint family 17 years ago, which now attracts families from around the world, as well as the top researchers and doctors. This organization has brought much needed attention and support to LCA families. Then there is the Gavin R. Stevens Foundation in California, who has worked tirelessly to gather funding for research of the NMNAT! gene. Their son, Gavin, and Gabriel share the same genetic mutation . The Stevens family raised enough money to fund Dr. Pierce's three year mouse study. To see regular families working with researchers to help cure blindness is inspiring. We were told that a phase 1 study for humans will cost around 2 million dollars, so Bert and I are hoping to put on some fundraisers of our own in the near future.
Attending the LCA conference is an educational experience, but connecting with other families and blind adults is just as important. The challenges of raising a blind child are becoming more real as Gabriel gets older. It made a tremendous impact on me to see blind adults leading independent lives, but more importantly leading happy lives. We flock to these conferences in the hope of learning something new about the ongoing research being done on LCA, but the individuals we meet at these events have become part of our extended LCA family and support system. The reality is, that until there is a cure for retinal diseases, we need to raise Gabriel with the skills he needs to be successful as a blind person. This doesn't mean, however, that we stop hoping and fighting for a cure.
Gabriel the three year old, Gabriel the school boy, and Gabriel the big brother. These are just a few new things about Gabe these days! Those of you who know us, know that the last several months have been trying. We welcomed our third little son, Samuel, into our family, and although NOT blind, he was born with spina bifida. As overwhelming as it has been, we, and in particular Gabriel, are doing fine. Somehow in the midst of the chaos, Gabe has left behind babyhood and become a little boy!
"Twinkle twinkle little circle. Twinkle twinkle little square". This is Gabe's own adaptation of "twinkle twinkle little star"! Every time he sings it, going through every shape imaginable, it makes me smile, happy to hear him being creative, and sad as I realize what he is singing. To Gabriel, a star is nothing more than a shape, and a twinkle is just a word in a song. As he gets older, I will be able to explain to him that there are millions of stars in the night sky, but how I wish that I could just take him outside, point, and say "look"! I often wonder how Gabe "sees" things. For instance, what is an elephant ? He has never touched one. To him it is that roundish piece in the animal puzzle. It is a small plastic figurine at the Ocupational therapy office, but a large plush toy at school. It is the leathery feeling texture in our animal book at home, but it feels completely different than the one in the book at school. An elephant is many things to Gabriel. However, without having ever explored and interacted with one, Gabe's perception of a real elephant is probably not very accurate.
Since Gabe understands things differently from us, we wondered how he would react with having a new baby in the house. Thankfully, it is easier to explain what a baby is than a twinkling star or an elephant, and Gabriel adapted well when Samuel was born.
Gabriel experienced first hand how my belly grew, and noticed that it was gone when Sam was born!!! We let him touch Sammy to show how small he was, and explained that babies wear diapers, nurse, cry, and sleep. These are all things that Gabe has an understanding of, and that helped a lot in explaining what a baby is. He has shown interest in Sammy, feeling his feet, hands, face, and patting him NOT so gently!!! It is sweet to listen to him talk to the baby, but he doesn't quite understand why he doesn't get a reply. What Gabe doesn't know is that Sammy is staring at him intently, or smiling when he talks to him. There is a natural disconnect due to Gabriel's blindness. It becomes obvious when I see how Ollie and Sam interact with each other. Words aren't needed, as they look into each other's faces, smiling and giggling. I hope that as Sam gets bigger he and Gabe will share a similar bond to what Ollie and Gabe have shared, and what Ollie and Sam already share.
Gabriel started school before Christmas, and was placed in a blended pre-k class at a mainstream school. This means that half the children are typically developing, and the other half of the children have some sort of special need. Gabe is the only blind student. He is assigned a TVI (teacher for the visually impaired) who is with him daily for 2 out of the 4 hours he is there. It is her job to adapt activities, and teach him his pre-Braille skills. I have been asked numerous times if Gabriel can read Braille books. I don't think most sighted three year-olds read books yet, and no, Gabriel cannot read yet either. He is expected to learn his letters like any other child. By the time he starts Kindergarten in two years, he should be able to identify the entire alphabet. Gabe is also learning how to type on a Braille machine. It looks like an old-fashioned type writer, and his favorite part is when it goes "ding"! The TVI describes Gabriel's work on the Braille machine as scribbling. Just as sighted children are encouraged to scribble with crayons, Gabe is encouraged to scribble on his Braille machine. I was impressed to see that he can name all of the parts of the machine, and even load his own paper!
In addition to his TVI, Gabe also has an O&M (orientation and mobility) instructor. He comes twice a week to Gabe's school to teach him how to properly use a cane, and to explore the school campus. Gabriel loves his O&M sessions, and has made a lot of progress. Gabriel's use of a cane is becoming more refined, and we take it with us whenever we are out. Just last week I had a complete stranger ask me what the point was of giving such a small child a cane to use. Afterall, he is obviously not using it 100% correctly, and he still holds my hand when we walk. Wouldn't it be better to wait until he is older? I believe that it is important to start early, especially if the child is wiling to learn, and Gabe is. I don't force the cane on him, and if he says, "no cane", then we let him be. It is like anything else, I suppose. A child isn't born knowing how to properly throw a ball, or play a musical instrument. You have to let them bang on a piano first before they start figuring out that you can actually play melodies on it.
Gabe's TVI at school and the Lighthouse (services for the blind) have been instrumental in helping us teach him. Teaching Gabe isn't difficult. He loves to learn and catches on quickly. He could probably teach me a thing or two, such as being able to identify cars by the sounds of their engines. Gabriel loves listening to and riding in different vehicles! If you want to get on Gabe's good side, just offer to drive him in your car!
The difficult thing, as a parent, is knowing what to teach him. We try to make things as hands-on as possible, otherwise he will have an incomplete perception of certain things. Gabe sometimes does laundry with me, and yes it takes twice as long! I've let him wash plastic dishes so he knows what we are doing when we say that we are washing up in the kitchen. Apparently, Gabe thought I was eating dental floss once, when in fact I was chewing gum, so I explained that several things can have a minty smell besides dental floss. We try to see the world from Gabe's perspective, but I still have "of course" moments when watching the TVIs working with him. Recently, at the Lighthouse, Gabe's teacher went through the steps of making orange juice with him. She let him hold an orange, and he had no idea what it was. I had only given him orange juice in a glass, and he had only ever eaten cut up orange pieces. His teacher first let him feel the orange. Then they peeled it together and ate the pieces. Then they took another orange, sliced it in half and made orange juice together. Lastly, Gabe drank the juice that he made. NOW he has a full and accurate understanding of what oranges and orange juice are.
When I compare Gabe to the rest of us, I sometimes think that he is the happiest person in the world. Feeling the wind blow in his face gives him the same level of excitement as a sighted child receiving a new video game! I wish that more people could look past Gabriel's blindness, and see him for who he is. We are lucky in our community, that we have plenty of people who treat Gabe with love and understanding, but we have come across just as many that don't. At the age of three, Gabe is not yet good at socializing with random people that he doesn't know well. If he has met you one-on-one, and you have shared even one minute of fun together, he will forever remember you and associate you with whatever fun you shared. There are, however, plenty of people, even friends of ours, who don't even acknowledge his presence or become silent when they are around him. When things become silent, in a sense Gabe is doubly blinded.
We continue to be amazed by Gabriel, and I find myself trying to be a little more like him! He still has a lot to learn and work on, but the way he views the world is beautiful. Gabe's favorite "characters" aren't Mickey Mouse or Scooby Doo. We, his family and friends, are his favorite characters.
A Small Update on Samuel
Samuel is now four months old, and being that he is a baby, there isn't too much to report! We are grateful that, despite his diagnosis, he is doing very well. He is over 20 lbs. and is the size of a one year-old!
Sam was born with an open myelomeningocele, spina bifida at L4 (the fourth lumbar vertebrate), which means that parts of his spinal cord were protruding through a hole in his back. He had surgery to close the hole before he was even a day old, and came home one week later. At 11 weeks Sam had another surgery. This time he had a shunt placed in his head to drain fluid from his brain. Thankfully, he overcame the surgery well.
What remains to be seen, is what Samuel's mobility will be like, and if his bladder and bowels function properly. We are in a "wait and see" period, as each case of spina bifida is unique. It is hard to know which spinal nerves were damaged. We, and Sammy's neurosurgeon, are optimistic that he will be able to walk. His hips developed normally, and he has strong leg movements. In fact, we have started putting him in a bouncer! Unfortunately, Sammy does seem to have certain deficits in his feet. They have limited sensation, and limited movement. As he gets older, we will be doing physical therapy, and hopefully with the help of some foot braces, Sam will be walking around!
Samuel has captured all of our hearts. He is a sweetheart, who smiles and laughs a lot, and he sleeps through the night!!!!!
It has been quite a while since I last posted, as life seems to have a way of navigating me into new and unexpected directions. However, given that October is blindness awareness month, it seems like the perfect time to update the blog!
As many of our friends and family know, Bert and I are expecting our third baby in January, another little boy. This baby was very much wanted, despite some people's disbelief that we would "risk" having another child. Every time we are pregnant, that child has a 25% chance of being blind due to LCA. Dealing with blindness isn't easy because of obvious reasons, but it doesn't mean that you can't have a happy, fulfilling life. Our little Gabriel has taught us that,!
Throughout this pregnancy, Bert and I have been prepared that baby boy #3 could have LCA, Given that I know first hand that things can go wrong, I have been cautiously optimistic as the baby grows and develops, hoping that he is healthy, and trying to convince myself that lightning doesn't strike in the same spot twice. Unfortunately, in August we were "struck" again with heart-breaking news. Our little baby was diagnosed with spina bifida, a very serious defect of the spinal cord. Even as I write this I don't understand why this is happening. The same thoughts run through my mind.......I am healthy, I took my vitamins, I don't smoke or do drugs, etc., etc., etc. At the same time, Bert and I have already fallen in love with this child, and despite our own uncertainty about our future, we look forward to meeting him.
Because of the extra testing I had to undergo, due to
his diagnosis, we were able to confirm that the baby is most likely NOT blind, and this has given us some peace!
All of the stress with the baby has unfortunately been taking place during a very critical transition time for Gabe. Gabriel will turn 3 on October 29th, and this marks his transition from the early intervention program into the public school system. To receive Braille instruction, Orientation and Mobility training, and other services he might require, he will need to be enrolled in school. This transitional process has in reality been going on for months now, as Gabriel has been put through mandatory evaluations leading up to his birthday.
I am often frustrated by the process we are going through. The standardized tests/evaluations that are used to evaluate Gabe do not accomadate for vision impairments. The one exception is the Lighthouse (services for the blind), who uses a test designed for blind children. The other evaluations test for all areas of development, but assume the child has vision. There are just certain tasks that Gabe cannot complete or doesn't want to complete due to his blindness. This includes coloring with crayons or stacking blocks vertically. He will stack legos in a tower, since they interlock. He doesn't complete the task with blocks, however, which tests a child's visual fine motor skills, because "line of sight" is used to do this.. This is why I get frustrated, since Gabriel scores poorly most of the time, although we are always told how smart he is. The testing that is meant to help us assess Gabe's progress seems in many ways inaccurate, and I am left wondering if we are teaching him properly.
Some of the areas that Gabriel needs help with are blatantly obvious, such as certain self-help skills and feeding skills. Gabe can get himself undressed, and can almost get himself dressed. He easily finger-feeds himself, but the use of a spoon/fork is a challenge. Surprisingly, Gabe can bring a spoon independently to his mouth. However, the spoon is empty most of the time. The scooping process of filling the spoon with yogurt or apple sauce, for instance, has been tricky. Gabe has no way of knowing if the spoon actually has food on it, so we help him scoop and then he brings the spoon to his mouth. Many of the fundraisers for the cure of blindness are a variation on a "Dining in the Dark" event. As I have thought about organizing a fundraiser, this event hits close to home, as I personally see how challenging it is to complete a simple task of feeding oneself when you are blind. Imagine trying to enjoy a nice steak dinner while blindfolded!!
As we anticipate the upcoming changes within the next couple of weeks, I am left both nervous and excited. I am excited that Gabriel will have the opportunity to socialize with children his own age, and maybe make some friends! I am extremely nervous, also, since Bert and I have little control over the process. We still do not know which pre-school Gabriel is assigned to, and we do not have control over this decision. With our older son, Oliver, we chose when to send him to school, where we would send him, and we had the freedom to visit his school and meet his teacher beforehand. These little things seem like luxuries now.
Gabe will be mainstreamed, which is what happens for most blind children, unless you are fortunate enough to live near a school for the blind. The classroom teacher will not be a trained "teacher for the visually impaired" (TVI). A TVI/Mobility Teacher will be assigned to visit Gabe during school on a daily basis, but only for 1-2 hours per school day. This isn't so worrisome for preschool, since Bert and I intend to only send Gabriel 3 mornings a week. I do have concerns about this set-up as Gabriel reaches elementary school, however. When I consider that he will only have around 2 hours of specialized help during a 6-7 hour school day, it makes me wonder how Gabriel is supposed to succeed and become literate? The more I think about this, the more I realize that Bert and I need to become Braille literate. This way we can help Gabriel learn the skills he needs to be successful.
As I have learned these last several years, we will take things one day at a time, meeting the good and bad as they present themselves to us. It is really the only way to deal with certain situations, so we will hope and pray for the best as Gabriel starts this next chapter of his life. We have been blessed to have him to ourselves these first couple of years. Now we will let him loose on the world in small doses! Watch out - here comes Gabe :) !!!
Spring is in full swing here in Florida, and everything seems so fresh and beautiful. As happens so often, though, I think of what Gabriel misses out on. The rest of us are admiring the blooming flowers or the butterflies, and Gabriel is blissfully unaware of it all. Sometimes I pity Gabe for how unaware he is, and then he promptly shows me that it is I who am unaware. I was gently reminded of this once again the other day in the park. I was watching pelicans out on the water, wishing that Gabriel could see them, when he suddenly layed down in the grass and started feeling it and rolling in it, laughing with delight the entire time. Grass....how many of us actually give grass a second thought? Gabe's blindness robs him of certain experiences, but he experiences the things he can so fully that it is sometimes enviable. And so I laid down next to Gabriel for a moment and let him teach me how to be more aware.
Gabriel is just about two and a half years old now, and has finally started talking A L:OT! This is a welcome development, because three months ago a speech therapist determined that Gabriel was 10 months behind in language. His language skills are improving quickly now, as he is using new words every day and is starting to talk in 2-3 word sentences. Speech is a wonderful thing, and it has given Gabriel some control over his life. He can make a decision, whether it be about what he wants to eat, or what toys he wants to play with, and he can now verbalize that want.
One thing that I hadn't truly considered before Gabriel started talking, was what his expectations are. I have become quite good at describing and talking about things as we do them, but I hadn't been consistant in talking about things that we were planning to do. For instance, Gabriel and I drove to Publix to go grocery shopping, and as I parked the car he became very animated and said, "Go go Spielplatz" over and over again. That is baby German for go to the playground. In his mind we were about to go play. He had no way of knowing where we were, because I hadn't told him. He was very upset, and I felt terrible. Luckily, upon being put in the shopping cart he started saying, "go get cookie", so all was fine! We now tell Gabriel our plans ahead of time so that he knows what to expect.
As Gabe's language skills develop, we are also working on his pre-braille skills. We are lucky that he has always enjoyed "reading" through touch and feel, textured books. He has never shown tactile defensiveness or sensitivity, which can be quite common in blind children. The textured books, which also have braille lettering in them, help teach the concept of reading. Every time I think about teaching Gabe Braille, I get over-whelmed. To me it just seems so very difficult. Visually, I can tell the different Braille letters apart, but as soon as I close my eyes and try to feel the small dots, they all seem alike to me. We have large wooden Braille blocks to help teach Gabe the alphabet, and he can already identify several letters. It is pretty amazing.
Gabriel has become so well-adjusted that we are able to do things as a family that we wouldn't have dared do 1-2 years ago. We used to plan our days carefully, limiting our activities per day and avoiding certain situations all together. Now we rarely worry about how Gabriel might react to a new place. During Easter vacation we decided to go to Legoland along with our visiting Swedish family. The nice thing about this place is that they have a waterpark within the main park, and all of the children, including Gabriel, really enjoyed this. The water was very cold while we were there, but it didn't seem to bother Gabe. He sat in the same place, splashing around, for a good twenty minutes before he allowed us to show him the rest of the fun to be had! As I mentioned before, he experiences things fully, and at that moment he was experiencing cold water and did not want to be interrupted!
As well as Gabriel is doing, there are naturally still hardships that we face with him. But even as I write that, I see how a lot of our challenges are no longer so daunting. One of the hardest things that we have dealt with over the last couple of years is eye-pressing/poking, and I wanted to share this in case there are other families that deal with this issue.
This may sound funny or strange to someone who doesn't understand, but it is a serious matter. Many children with LCA habitually poke or press their eyes, which over time often leads to sunken in eye orbitals and other damage. The experts aren't certain why children with LCA press on their eyes, but there are some theories. We have been told that the eye-pressing provides stimulation to the brain. In other words, the brain might be craving that visual input in a sense.
It has been a strong impulse for Gabe, and trying to stop this behavior has been a battle. Thankfully, we have been somewhat successful in diminishing the behavior, especially over the last year. During the height of his eye-poking, Gabriel would press or poke his eyes hundreds of times per day, to the point that his eyes were so swollen that they wouldn't close properly. I would hold his hands down, and he would try to get his fingers in his eyes using all of his strength. It was scary. I will admit that there have been times that I have broken down in tears several times a day because of it. When your child has an impulse like this, your life revolves around it. I could never leave Gabe out of my sight, because inevitably a finger would be stuck in his eye. I would drive my car with one hand and have the other hand holding Gabe's hands down. It was constant stress ....I can still feel that stress when I think about it. But it feels good being able to describe all of this in the past sense. We haven't dealt with the extreme eye-poking in over a year now. It is something that we stubbornly fought. Yes, Gabriel still pokes his eyes, but it is usually when he is very tired or isn't feeling well. There are actually days when he doesn't do it at all anymore. And if he does poke his eyes, all we have to do is tell him to stop, and he usually listens.
Before having Gabriel, I thought I was a patient person, but it is after having him that I truly learned the meaning of patience. We have to trust that Gabriel will learn the things he needs to learn in his own time and manner, even if his therapists say that he is behind. When dealing with negative behaviors such as the eye-poking, Bert and I have had to patiently teach Gabe to deny that impulse. And when certain days seem impossible, I know that it is temporary, and that with a little patience and hard work, it will get better. I have also learned to stop and smell the roses....or to stop and roll around in the grass, and this is a gift that my son has given me.
"Go Gabe Go"! This has been the mantra in our house the last few weeks, and little Gabe's voice echo these words as he explores and tries new things. Our newest adventure has been walking with his first cane. We received it a little over a week ago, and Gabriel took to it almost immediately. I was expecting it to be a challenge to get him to even hold the cane, but luckily this wasn't an issue. For now I hold my hand over Gabriel's hand to help guide the cane from side to side, since it inevitably gets waved around like a sword if I don't help!! We have gotten into the habit of bringing the cane with us, and have already explored many different places with it. When Gabriel "finds" things with the cane, he laughs and giggles, and then reaches to touch whatever it is that he has discovered. It seems funny to me that aside from his TVI (teacher for the visually impaired), Bert and I are Gabriel's main teachers when it comes to his mobility training. I can honestly say that I would not be able to get around using a cane if someone were to blindfold me, but this is what we expect from Gabriel. The world expects Gabe to adapt.
One thing that struck me the first time we ventured out with the cane was the attention we attracted. I never broadcast Gabriel's blindness when we are out and about,, but it is obvious now when we use the cane. I understand that people may stare, but it is definitely a different feeling. Mostly people smile as they watch Gabe. Afterall, he is super-cute!! It is also obvious that some people just don't know how to react to him.
I often wonder how other children will react to Gabriel once the time comes to send him to school. He actually tried to socialize on his own for the first time with other kids besides his brother. It was in the waiting room of his occupational therapist's office, and he heard three other children laughing and playing. With a little grin on his face, he walked towards them, but as soon as he got there, they were off to another activity across the room. Gabe listened and followed, and again was just a bit too late for the fun, as the other kids were off doing something else. I was so proud of him for trying to interact, but I was also very sad to watch this.
Gabriel has become quite adventurous and fearless. He often pulls his hand away from mine when I try to hold it, as he would much rather free-roam. Afterall, his battle cry is "Go Gabe Go", not "Go Gabe and Mama Go"! He climbs up and down stairs without assistance, and often tries to take two steps at a time. He also enjoys walking backwards throughout our house, which is fascinating to watch since he usually knows where he is going. Gabriel's need to explore can get tricky when we are out. As I mentioned before, he no longer wants to hold my hand, even when we are at a restaraunt, store, the park, playground, church, or somebody elses house. Gabe doesn't understand why we cannot allow him to walk about freely and touch everything or everyone. It is frustrating for him as well as for us, since this is Gabriel's only way of discovering places. Not allowing him to explore is one of the few things that can set our usually easy-going boy off. In a way, by keeping Gabriel buckled in his stroller and not allowing him to explore, we are denying him one of his senses. I have found that this is one of the cruelties of being blind. You learn to "see" your environment in a hands-on fashion, but certain situations or places don't allow for that, and you are truly left blind.
I am reminded on a daily basis what an amazing little boy I have. On more than one occasion other people have commented that Gabriel must be a lot of "work", and they wouldn't want to be in our situation. I'd rather not be in this situation either, but I only say that because I want Gabriel to see and experience all that the world has to offer. I have absolutely no regrets about having Gabriel, and he does not require a lot of "work". Yes, we have to attend therapies three times a week, and it takes extra time to teach Gabe certain things that other children learn easily by watching others. I also don't have the luxury of putting Gabriel in front of the television if I need a moment to cook or just take a break. But these things seem so trivial when I consider what an easy child Gabriel is. He has a sweet personality and has the patience to learn and be taught by us. An average two to three year-old is known to throw temper tantrums and be stubborn at times. This is something we rarely deal with when it comes to Gabriel. He spends most of his days with a smile on his face, being silly and sweet, and singing! In fact, as I sit writing this, Gabe is playing beside me, humming to his music! What I have realized is that Gabe was given a big challenge in life by being born blind, but he was also given the perfect personality to deal with it. And so we cheer him on! "Go Gabe Go"!
The last couple of months have been somewhat sleepless in our house, as both boys have been taking turns getting sick, so I welcome this new month and season with the hope that our nights become restful! The last day of February marked "Rare Disease Day", a day that effects us personally since Leber's Congenital Amaurosis (LCA) is an orphan disease. There are between six thousand and eight thousand different rare diseases, but when grouped together, they are no longer so uncommon. One in ten Americans are somehow effected by a rare disease. All of you who know Gabe have been effected by a rare disease. I, however, prefer to think that you have been touched by a very special little boy.
We have Swedish family in town, and it is fun to see Gabriel interact with them. He clearly remembered his grandmother, "Farmor", this time, and I think he enjoys having people in the house. As one of our Swedes leaves today, I wonder how Gabe will remember her. Has her voice been mapped somewhere in his memory? It makes me contemplate how many people that Gabriel truly knows. If they have never made an effort to interact with him, he doesn't know that they exist. All of us who are able to see get to know people even if we don't have personal relationships with them. You "know" the regulars at the coffe shop, and you "know" the mailman, You see the same people walking their dogs or biking around the neighborhood, and you see the various people sitting in church, many times in the same spots every week. You may never exchange a single word,, but you know them in a certain way. It is an awareness that you have of your community, and Gabe doesn't have this. It falls under passive learning through sight.
From the time we are born, we learn by watching and observing, but Gabriel learns differently. He has his own ways of figuring out the world. Gabe has our entire house mapped out, and it is fascinating to watch as he tries to learn even more about his environment. He has discovered chips in the paint and dents in the walls that I never knew existed. He rarely runs into things anymore at home, walking freely and stretching his hands out at the right moment before colliding with a table or a wall. He often stands at a corner where two walls meet, and will alternately tap them, as they make different sounds. He also measures distances using his arms. He touches the television, for instance, and then stretches his other arm out towards the coffee table, and then he realizes that it is a distance of one "Gabe arm's length" wide. Most kids could care less what a wall sounds like or how wide a walking space is, but Gabe spends his days figuring these things out. In one way, he is really easy to keep happy. We just let him loose and let him discover.
Of course, Gabriel has regular toys that he loves to play with, but some of his favorite activities are a bit unorthodox. He is obsessed with doors, and can spend a good twenty minutes opening and closing a door over and over again. He gets into a rythm of open, slam shut, jump up and down with joy, and repeat process. Our mostly sweet, easy-going, and gentle little boy can throw himself the most angry temper tantrum if you take him away from a door. He doesn't discriminate either. He loves all doors, whether it is a house door, cabinet door, dishwasher door, wash machine door, or refrigerator door. The refrigerator has an extra bonus since the doors are noticeably colder to the touch. Gabe feels the doors with his hands, cheeks, tongue, and once even put his bare belly on them. And yes, all of this is followed by immense giggling!
Gabriel's language is finally coming along. We actually had him evaluated by a speech therapist, who came to our house. The funny thing is that during the hour that she was here, Gabe decided to speak three new words, and has added words daily since then. This was after months of saying nothing new. It was as if he sensed that he needed to step things up a notch! Although the evaluation determined that Gabriel is about nine months behind with his talking, we are no longer worried. He is talking a lot now, and tries to actively mimic what we say. He also says some simple sentences. My favorite thus far is, "Mama's home"!! I walked in the door and he was jumping up and down saying that. Later that afternoon Bert pulled up in the driveway. When Gabe heard the sound of Bert's car, he said "Papa's home"!
One thing that remains a challenge is physical activity. Although Gabriel gets around well and has great body awareness, I can't let him move around independently when we are out. I can tell that he craves this independence, as he sometimes refuses to hold my hand and walks in the complete opposite direction. He doesn't understand why I don't always let him roam freely. He doesn't know that he is headed for a sea wall or that the cars on the road next to us can hurt him. When we are in a relatively safe environment, we try to give Gabriel the freedom to explore, always giving verbal cues. If you ever spend time with us, you will notice that our conversations are frequently interrupted with "Gabe cues" such as "wall", "step", "hands out", or "STOP"! He has learned to listen to us! It has also become second nature for us to spot Gabe. As he explores, I try to keep my hand close to his head as a buffer against potential bumps. I automatically hold table corners, and catch myself doing this even if Gabe isn't around. I have also caught myself giving Oliver verbal cues!
One thing that has caught our attention in the last several months is that Gabriel echolocates to a certain extent. It was very clear when we were house hunting, as we walked through homes that we had never been to before. Somehow Gabriel knew where the doorways and openings were in the walls by the way the sounds/echo change. I have read that this skill can be fine-tuned. Certain blind individuals are able to get around independently without a cane, and can even tell you the dimensions of a structure or a room that they are in. They can do this by clicking with their tongue and listening how the sound bounces back. It is intriguing, and something I hope Gabriel will learn more of as he gets older.
Gabe definitely keeps life challenging and interesting, and has redefined what normal is. I often realize that I have to adjust my own attitude in certain situations. For example, there have been several times over the last couple of years that I have found Gabriel playing in a pitch-black, dark room. My initial response is always the same: fear and slight panic. What if Gabe hurts himself? What if he is scared? But unlike most children, Gabriel is not afraid of the dark. Darkness is his reality, so he has already conquered this common childhood fear. And this is because of his blindness!!
This weekend we celebrated Oliver's 6th birthday, and Bert and I both agree that he tops the list of best Valentine's gifts ever! Although he wasn't born until the early hours of February 15th, we began our plunge into parenthood on Valentine's Day, 2007. Life would never be the same! Becoming a parent opened up parts of my heart that I never knew existed, and I learned to love in a completely different way. You get to know the full spectrum of emotions, ranging from absolute joy to utter frustration, and Ollie has frequently brought us from one end of the extreme to the other! With the addition of Gabriel and his eventual diagnosis of LCA, we also learned the true meaning of grief and worry. But this immense grief has also brought us an indescribable joy. It seems like the one extreme goes hand in hand with the other.
As I thought back to Ollie's baby and toddler years this past weekend, I couldn't help but wish for the normalcy we had back then. I don't want Gabriel to have to face the challenges that lie ahead of him, and I wish I could make them go away. Instead of planning outings with other parents and their children, Gabe and I keep a 3 day per week therapy schedule. He has an occupational therapist, a teacher for the visually impaired, and an early steps interventionist. We have been keeping this schedule since Gabe was about 8 months old, and he tolerates the sessions pretty well these days. He even has fun! It took us a long time to get to this point, however. The OT sessions were especially stressful, as they take place outside of our home. The office is made to put children at ease. The walls are colorfully decorated, there are cartoons playing on TVs, and the therapy rooms are filled with fun activities and toys. All of this was lost on Gabriel, however, and he was genuinely terrified every time we went there. It is emotionally draining listening to your child screaming for an entire hour, week after week, and month after month. I often wondered if we were doing more harm than good in bringing Gabriel to these sessions, but at least I was able to pick up ideas from the therapist to use with him at home. Thank goodness we have FINALLY come to the point where Gabe somewhat enjoys OT too!
All of Gabe's therapists, and Bert and I are always amazed at how well he is doing despite such a big handicap. He is reaching all of the developmental milestones and in a way seems advanced in some areas. At the same time, we struggle with certain basic skills. Getting him to drink anything instead of nursing me was a huge challenge. We were never able to get Gabriel to drink out of a sippy cup, or use a straw, for example. It is one of those things that would be so easy if you could just "show" him. With assistance he is now able to drink out of a regular cup, and I've decided that that is the end goal anyways! Gabe also doesn't bite off food. I didn't even notice it until recently when I decided to give him an entire cookie to eat instead of breaking it into bite-sized pieces. What did Gabe do? He broke it into bite-sized pieces, himself, and then ate it. It was one of those "duh" moments, since Gabriel obviously has never seen the rest of us eat.
We are fortunate that Gabe doesn't exhibit many of the problems that other blind children exhibit. He has never been overly sensitive to different textures or sudden changes in environment. Things that used to be a problem for Gabe, such as noise sensitivity, are barely even noticeable anymore. Gabe craves different experiences, and we try our best to provide them. It is fun to see how something trivial to us can bring such joy to Gabe. I remember when he first discovered a wine bucket filled with ice on the Thanksgiving cruise my family took. He repeatedly plunged his hands into the cold bucket and giggled uncontrollably. He may have been oblivious to the beautiful, vast ocean right outside the window of the dining hall, but he did discover ice for the first time!
I still wish that Gabriel could experience everything that we are able to experience. He mimics many noises and sounds from our environment, and I can "show" him what many of these things are. When a car alarm goes off, he mimics it and he knows what it is because he's been in a car before. When he hears dogs barking, he barks and he knows what a dog is because we have one. But the other day we were at the park and we heard geese. He mimicked them, but I had no way of showing him what a goose is, or any other bird. I could tell that he was curious by the look on his face, and it makes me sad.
There is also something sad as the seasons change and the holidays and birthdays go by. We are approaching Easter, and Gabriel won't be hunting for eggs with the other kids. By the time Ollie was two, he pretty much understood the awesomeness of every holiday, but I don't think Gabe understands any of it yet. For me, Christmas was the most difficult. It is a beautiful time of year with the decorations, the lights, the tree, the presents. The whole world seems to shift from one week to the next, and all the children's eyes are filled with excitement. For Gabriel it was like any other time of the year.
I often feel like i am failing in this situation that we find ourselves in. However, as I sifted through the jumbled up thoughts of my sleep-deprived mind to write this post, I find that we are doing well. Afterall, for the most part, the four of us are still smiling and happy. So for now at least, I choose not to worry so much!
With the start of the new year, I decided that it was time to get a website up and running for Gabriel. I hope it will help keep our family and friends updated on our journey through blindness towards sight!! In April it will have been two years since we learned about Gabriel's condition. He is now a confident, happy toddler, doing things that seemed impossible for him just a year ago. We meet the challenges head-on, and know that Gabe will find his own ways of doing things. We have learned that it isn't always the bigger issue of blindness that become a challenge, but the secondary problems that arise because of it.
I could describe the ups and downs of the last two years, but I would much rather write about how Gabriel is right now. He amazes us! He walks, jumps, and climbs around the house fearlessly. As a baby we struggled to get him to move, but now he excitedly explores most places that we go to. He has a signature "double-tap" that he uses as he trails walls, discovers furniture, or floors. It is interesting watching him walk when we are out. Every so often he stoops down to touch the floors or grass, or to finger the grout in between tiles. He also likes to lick all of these surfaces, a habit which we are trying to break! Gabriel's TVI (teacher for the visually impaired) wants to begin mobility training with him. She actually measured him last week, and ordered his first cane. I am excited because I know that a cane will bring more independence, but I know it will be a challenge getting Gabriel to undersand this. He wasn't too keen on using any sort of "pre-cane",
One of Gabe's favorite things in the world is music! We play a lot of music in the house, and he hums to all of it, whether it is a CD playing, us singing/playing, or one of the tunes playing from his various toys. He knows them all, and hums on pitch!! Gabe is also very rythmical. At the age of one, he started walking around the house singing rythms, especially the dotted quarter note, eighth note, quarter note, quarter note rythm! He even sang it in his sleep! We sit at the piano together, and he hits the various keys, humming the notes as he plays them. Being a musician, all of this has me stoked about his future musical abilities! I guess if you have to be blind, you might as well have a mommy that can teach you music!
Sometimes it is easy to forget that Gabe is blind, as he has his own clever way of doing things, It becomes more obvious when we are around other children. At the playground I see kids, younger than Gabe, running around, chasing each other. Gabriel is two, and I have never seen him run. He walks fast sometimes, but never runs. He has learned at such a young age, through many bumps and falls, that he needs to be cautious. Although Gabe has become very social, it is also difficult for him to play with children his own age. I am hoping that this will get better as he gets older. It is a blessing that Gabe has a big brother to play with at home.
I am convinced that part of the reason that Gabriel is doing so well is because of Oliver. When Gabe was still a baby, we struggled to get him to roll over or sit up. He screamed and cried. One day Ollie went to Gabe, roughly rolled him over , and basically told him how it's done!. Gabe giggled profusely, and so began the sweetest of relationships. Ollie brings craziness and wild fun into Gabe's life. Bert and I try hard not to intervene when they play, praying that nobody gets hurt! They have their own made-up games. I like the one where Gabe holds on to Ollie's hips, as Ollie chugga-chugga-choo-choos around the house, yelling "Gabe is a caboose"! Of course, there have been times when Ollie runs Gabe straight into a wall!
It is a unique relationship in that they never fight. Ollie doesn't pout when Gabe pulls his hair or bites him, He is very forgiving towards his little brother, and protective of him. At Christmas, Oliver observed that Gabe had less packages than him under the tree. Gabriel is difficult to shop for, as many toys are geared toward a child's vision. Ollie made me drive to Target, and HE picked out extra toys for Gabe's Christmas. I was dumbfounded, but also very proud of Oliver. Even though we talk often of how amazing Gabriel is, we are reminded on a daily basis how special Oliver is too!
I have learned to gage Gabe's quality of life by how happy he is. So far I think we are doing well, since Gabriel is an extremely happy, silly little boy. I, of course, still think about what he misses out on, or the things he struggles with because of his lack of vision.
About 80% of what babies learn is through vision. They observe, mimic, and learn without much effort from their parents. But what about a blind child? When we first received Gabe's diagnosis, I kept wondering what his perception of the world was. Did he even realize that there was a world beyond his playpen, beyond his carseat, or stroller? I know that he learns every day about the world, but what does he really know? It wasn't until recently that Gabriel learned that there are ceilings in our house. Bert lifted him up for fun to touch the ceiling, and it was followed by a very intense laughing fit. He always reacts in the sweetest ways when he discovers new things, yet those little moments can also bring about an over-whelming sadness. I had never considered showing him the ceiling, because to me it is trivial, something I know is there because I see it. A few days ago at the playground I spotted two manatees in the water. There they were for everyone to see, but there was no way for Gabe to experience them. These are the moments that still bring tears to my eyes, as there is so much to be experienced through sight. I try not to dwell on it, but how many other things that we take for granted, is he not even aware of?