Where can I find a doctor who knows about Oculomotor Apraxia?

Our website (www.omapraxia.com - you may access it as well by typing www.ocularmotorapraxia.org) has a section dedicated to names and contact information of doctors and hospitals who have knowledge of OMA. Recently, we asked our members on our social media to share with us the name of their doctors, and they did! So now we have more than 20 doctors on the list, from around the world, and hopefully the list will keep growing.

I believe one of the reasons why it took longer to diagnose Patrick, was because his regular doctors didn't know anything about OMA. But after my insistence that Patrick wasn't OK, they referred me to a neurologist at Children's National. Luckily, their neurologist knew about OMA, and he immediately referred to us a Pediatric Neuro-ophthalmologist, who has seen many patients with this condition. Even though neither of them were experts on OMA, they knew the important factors, and that made a whole world of difference to us. 

From just having the peace of mind of knowing what your child has, to knowing what the course of action will be in regards to his treatment and prognosis, finding the right doctor is the best thing that can happen to you. It is, when dealing with any medical conditions, and even more so, with RARE medical conditions.

So, take a look at the list. Maybe you will finally find a doctor in your area. Maybe you already have a doctor, and if that's the case, please share his/her name with us. You are so lucky to have found a doctor familiar with OMA, and we hope you share a bit of that luck with many other people affected by OMA.

Happy Leap Day!

Ocular Motor Apraxia Brochure

Oculomotor Apraxia has a brochure!!

The brochure contains a great overview about the condition, the resources available to us, and it includes great comments/advises from parents and people living with OMA. Whether you choose to get the free PDF version and print it at home, or to order professionally printed copies, I strongly encourage you to get enough copies to share with your pediatrician, therapists, teachers and close friends and family.

Also, please ask your child's neurologist/ophthalmologist to get copies so that his practice can give them out to future OMA patients. We all remember how scary it was the first time we heard OMA at the doctor's office, and the little information that was given to us about it. Now this brochure will help other parents to get some more information at their very first ophthalmologist/neurologist visit, and to feel welcomed into our international OMA community.

To get the brochure, please visit our website at: http://www.ocularmotorapraxia.org/brochure.html

Enjoy!

PS - All the photos on the brochure are from people living with OMA from different parts of the world =)

Ocular Motor (Oculomotor) Apraxia Website

"...We still imagine, daydream, and visualize our desires and many of those imaginings become real..."

That's a quote from my mother-in-law, who wrote it couple days ago on the last Ezine of the Napoleon Hill Foundation. It's rather fitting that she is writing about belief, applied faith and visualization, just as I'm ready to see the product of my very own applied faith and vision. A project that I hinted about couple months ago. A project that is so dear to me mostly because of whom I'm doing it for.

When we began our journey of having a child with OMA, we realized that whenever we had a question, we would hit a wall. There was barely any information about OMA on the internet, let alone any books or other resources about it. Doctors? Not much help either. In their defense, OMA is a fairly new discovered rare condition, and not much research or clinical studies have been performed to document the few adults living with OMA today.

We live in United States and my son is a patient at one of the best hospitals in the country. If I couldn't find or access information about OMA, I knew other parents had to be in the same situation, with the same questions I had, with the same worries I had. This is why I began blogging couple years ago, sharing everything I knew about OMA, from the little I could gather from doctors, to the many experiences we were living by raising our son Patrick.

I have talked before about a closed Facebook group with more than 400 members from all over the world, who are either parents of children with OMA, or adults living with OMA. This is such a great resource that it's unfortunate that there are many people out there that don't have a Facebook account and so they will never be able to join it. There are others that have Facebook accounts, but our searches never led us to this closed group, which is what happened to me for couple years, and which is probably what happens to the people that never come across this blog.

What is more unfortunate of it all, is that there are not medical professionals, on this blog, or the Facebook group, or anywhere else, reading our questions, hearing our concerns or giving us advice. There are no experts anywhere that can see that we are families wondering what to expect and what we should be doing to best help our children or ourselves with OMA. There are no institutions, policy makers or researches, that can see that there are hundreds of families in great need of more studies being done in regards to OMA, and that we are willing and ready to help them out, because we know that by doing so we are helping ourselves. Nobody can see us, or hear us, or read us aside from ourselves.

This is why I have been working tirelessly the past couple of months to create a public website. These months can perfectly be described by this quote my mother sent to me recently:

"Ask and it will be given to you; seek and you will find; knock and the door will be opened to you. For everyone who asks receives; the one who seeks finds; and to the one who knocks, the door will be opened" Matthew 7:7-8

I have been asking a lot for the past two months.

I have been reaching out to doctors, researchers and Institutes asking them for help to share with me any findings on OMA so that I could put it up on the website. I have been asking for individuals with OMA or parenting a child with OMA, who were willing to join my adventure and make this website real. I have been asking my husband to cook every day this past two weeks and watch our children more than the usual so I could focus on the website. I have been asking friends and family to buy jewelry from a dear friend, who kindly offered to donate a percentage of those sales to help me pay for website expenses and any other related projects. I have been asking God for his blessing and guidance every step of the way.

I asked and I received.

We needed to have a place, where to put all the important information about OMA, so that people would get the answers to the very basic questions that come to our minds when we first hear about this rare condition. We have that place today.

We needed a space, that served as an international network for all the people affected by OMA around the world to be able to connect with each other. From parent bloggers, to the great Facebook group, to adults living with OMA waiting for people to ask them questions. We have that space today.

We needed a page, where people could find gathered all the studies and reports done about OMA, that until now have been scattered all over the web. We have that page today.

We needed a source, where people could find tips that would help us know how to better raise our children with OMA. A place where adults with OMA would give us suggestions about practicing sports, going to college, getting a job, and even driving a car with such rare eye condition. We have this source today.

We needed a database, where people could find doctors who were familiar with OMA. Many people in many countries struggle finding a doctor who can give them a proper diagnosis, or answer basic question about this condition. We have that database today.

We needed a platform, where we could list all the medical community that are helping us with our cause, not only to thank them for their help but also to motivate other institutions, researchers, government, non profit and private organizations to join our cause. We have that platform today.

We needed a project, where the individuals who were eager to do something about OMA, were able to invest their time, passion and skills to actually do it. We needed to have their faces and their stories listed, so that other people that were ever interested in doing something about OMA, got inspired to take action as well. We have that project today.

We needed that and much more. And this is why OcularMotorApraxia.org exists today.

There is still a lot more work to do, not only to include all the information still missing on the website, but to tackle other projects that I'm sure will be born because of this platform we have created. It's great to see what we can accomplish, when we combine the people, and the efforts, and the time, and the skills, and the knowledge, and the mental attitude, and the faith. It's great to see what we can accomplish, when we have a major purpose driven by emotions and motives so strong and so meaningful to us. I did it because of my son, for my son, and for all the children, the parents and the adults with OMA who share the same journey my family does. I know those who have joined me have done it for the exact same reasons, too.

"...We still imagine, daydream, and visualize our desires and many of those imaginings become real..."

Indeed they do.

What do you imagine? What do you daydream? What do you visualize?

Which of these desires are you making real?

Overcoming Behavioral Issues: Sensory Processing Disorder

Last year I blogged a series of posts related to Patrick's behavior. I called these series "Overcoming Behavioral Issues" and I identified 4 main reasons that were triggering Patrick's bad behavior:

1. Speech delay
2. Nutrition
3. Sensory issues
4. Medical condition

I wrote separate posts to explain with more detail his communication and nutritional issues, but I really never got the chance to talk at length about how his medical condition was affecting his behavior.

This week is the perfect time to resume the series, Why is that? Because this past Monday we had a really, really, really bad day. But before I tell you what happened on Monday, I think is important to explain what is Sensory Processing Disorder, or Sensory Integration Dysfunction.

I found the best explanation (everything in blue) on the SPD Foundation's website:

Sensory processing refers to the way the nervous system receives messages from the senses and turns them into appropriate motor and behavioral responses. Whether you are biting into a hamburger, riding a bicycle, or reading a book, your successful completion of the activity requires processing sensation or "sensory integration." 
So basically, we are wired to respond to everything we feel and perceive through our senses. What we hear, what we eat, what we touch, what we see, and what we smell - everything is processed in our brain and then in turn this emits a response, like if we hear something too loud, we may cover our ears, or if something is too spicy, we may spit it out and get some water! 

Sensory Processing Disorder  exists when sensory signals don't get organized into appropriate responses. It's a neurological "traffic jam" that prevents certain parts of the brain from receiving the information needed to interpret sensory information correctly. Motor clumsiness, behavioral problems, anxiety, depression, school failure, and other impacts may result if the disorder is not treated effectively. 
Imagine a classroom with 10 children, and suddenly the fire alarm goes off. Five kids get surprised and maybe a little scared, they immediately look at the teacher waiting for her reaction to explain what's happening and what to do next. Two other kids are too busy playing to get too concerned, they do notice the noise, but they just wait to see if it goes away. Two younger kids get scared and cry, but as soon as the teacher explains that it was a false alarm and everything is OK, they calm down. And then there is one kid, he panics, he hides, he cries and screams and shakes... it's hard to calm him down, it's hard to get him to listen and it takes a lot longer and much more effort to get him to stop screaming. This last child shows an overreaction to a loud noise, this reaction is an indication that the "cause" is provoking an "effect" that isn't within the norm, hence, it shows that there is a disorder in the way he process this sensation. 

Symptoms of Sensory Processing Disorder, like those of most disorders, occur within a broad spectrum of severity. While most of us have occasional difficulties processing sensory information, for children and adults with SPD, these difficulties are chronic, and they disrupt everyday life. 
My husband tolerates spicy food more than I do (and I'm the Mexican one, you would think I could eat a jalapeno and no complain!) but does my sensitiveness to spicy food mean that I have a sensory issue? No, it doesn't. The key to identifying the difference in "every person perceives things different" from an actual sensory disorder, is when that "different perception" affects your life. When it's affecting significantly the way you socialize, the way you learn and the way you are, that's when you know it stops being a normal thing and it becomes a more serious issue that needs to be addressed. 

Sensory Processing Disorder can affect people in only one sense–for example, just touch or just sight or just movement–or in multiple senses. One person with SPD may over-respond to sensation and find clothing, physical contact, light, sound, food, or other sensory input to be unbearable. Another might under-respond and show little or no reaction to stimulation, even pain or extreme hot and cold. In children whose sensory processing of messages from the muscles and joints is impaired, posture and motor skills can be affected. 

The child in that classroom who panicked at the fire alarm, may only have an issue with loud noises, while the sensations coming from his nose, mouth, touch and eyes are perfectly OK. While this child overreacted to the situation, there are also children with SPD who may show no emotion, no reaction whatsoever to a sensation that otherwise would cause reaction in most people.

Still other children exhibit an appetite for sensation that is in perpetual overdrive. These kids often are misdiagnosed - and inappropriately medicated - for ADHD. 
A child who is often pushing other kids, throwing things and actively searching for physical input, might be thought to have ADHD, when all he needed was to get his need for physical stimulation taken care of. These kids benefit from taking a break from the classroom activities to enjoy a few minutes of physical activity, and after receiving the input they needed, they get back to their classrooms and work perfectly fine along their peers.  

Often I feel like SPD is the new ADHD or the new Autism, in the sense that SPD sometimes is treated like a trend: More and more often kids are (mis)diagnosed with it. A child that's too shy has Autism; a child that is too active, has ADHD; and today, a child that may fall in either or has SPD. Do all the kids diagnosed with SPD really have a legitimate medical problem in the way they process their sensations, or are we not letting kids be kids anymore?  We need to be careful when applying any of these terms to our precious little ones, because there are kids who really have SPD, ADHD and Autism, and are looked down by other people who are so tired of all these disorders on the rise. On the other hand, there are many children that don't have these conditions yet are diagnosed and treated as if they did, causing real problems in the child. 

For the parents that believe their children may be affected by SPD, you can read this article that talks more about the trend vs the real issue. I encourage you to get your child evaluated by a professional Occupational Therapist who will be able to tell you if your child has SPD or something else, if anything. We have known about Patrick's sensory issues for a couple of years, even though he was officially diagnosed until recently. Coming to terms with "he actually has it" vs "he is just a child going through a phase" was somewhat easier for us because we have seen a scan of his brain. His MRI actually showed a somewhat messy and underdeveloped cerebellar vermis - the part to be believed to control the way we react to things. Luckily for him and for us, it isn't affecting all his senses, but for the senses that are affected, well, let's just say I had a real taste of it last Monday, and it wasn't good.  We had been managing his SPD just fine -learning what to do and what not to do... but last Monday was rough. It's just so hard to see your child suffering and not being able to help.

Stay tuned for the next post, this is To Be Continued...

Is it possible to overcome Ocular Motor Apraxia?

I have to start by saying that Patrick's abnormal eye movement wasn't severe. But it was noticeable. And it was often. When the eye doctor saw him for first time, Patrick was about 11 months old. I still remember that appointment very well. One single item moved in front of Patrick from left to right, at a slow speed, and Patrick's eye couldn't follow it properly. The doctor knew immediately: This is called Ocular Motor Apraxia. Patrick has Joubert Syndrome. He suggested to see him back a year later to check on his vision.

Weeks later we saw a Neurologist, who requested an MRI, which showed Patrick's brain didn't have the "tooth" sign, hence he didn't have Joubert. Ever since, the only diagnosis we have is "underdeveloped cerebellar vermis" which can cause speech delay, balance and coordination issues, and the abnormal eye movement among other things. We have also been told that there is no surgery, medicine or anything that could possible cure the brain abnormality, and the only way to help our son is to address each of the developmental delays we may encounter along the way. But, what about the eyes? Well, we were told he wouldn't completely overcome it, but he could learn to manage it as he grew older, hopefully by the time he became a middle school age child.

We were told all that.
Patrick showed us otherwise.

Ready for school

I made myself educated in OMA, but, as most parents of kids with rare conditions, we have to follow our instincts on most things as it's very difficult to find information or to even get it from the doctors. He still can't talk, and back then he was only a baby incapable of explaining what he felt and how, so I had to guess. I also learned to read my son's body. Very soon I figured out that his abnormal eye movement was even more noticeable when he was tired, so I made sure he slept well during naps and overnight. It helped. The more I was reading articles and his very own body, I began to do other things, which I have been sharing since I began my blogging journey.

Every now and then I would check on his eye movements, by performing the same simple test the doctor did at his office. As the months were going by, I had to speed up the movement of the objects, because he stopped having problems with the slower ones. Was he getting better, that fast? I didn't want to get too excited just yet. Friends and family also would tell me that it seemed like he was getting better. The first time I took him to Mexico, my family found out about his OMA. Seven months later we went back, and they all told me how less noticeable it was. You seemed too worried last time you were here, and look, he is fine now! Were they just trying to make me feel better?

One day I sat down to pay close attention to Patrick's eye movement while he was playing with his little brother. He was playing to throw the ball and make a basket, something he enjoys doing despite of being told by the doctor how uncomfortable he would be with such activities. I hardly noticed the eye delay throughout the whole time. With the incredible yet apparent progress, and having Patrick just turned 3, I figured it was time to see again the eye doctor. I was very curious to see what he had to say in regards to his Joubert Syndrome, since it was him the one who assured us that was what he had.

Favorite game at ChuckEcheese? Throwing balls!

Once at the doctor, Patrick was very shy but cooperative. One object, left to right. No problem. Next object, faster, right to left. No problem. The doctor had to do it several times, faster and faster, to eventually catch the delay. The doctor turned to his computer to take a second look at the impressions he wrote down on the first visit 2 years ago. The doctor couldn't believe his eyes (no pun intended) -the fast improvement was obvious. That's when I started asking him about why he believed that Patrick had Joubert Syndrome despite the neurologist saying otherwise. He said the neurologist makes a diagnosis based on the readings of an MRI, whereas he makes a diagnosis based on the symptoms. According to the symptoms Patrick had back then, he had Joubert Syndrome. He acknowledged how doctors know very little about this rare condition, so he said most of them categorize them all under Joubert Syndrome. Like with any other health condition, there is a spectrum... and we believe some kids are more severely affected, some kids less.

Then he took another look at Patrick and how well he was performing the tests. We told him about his speech delay but that he has been walking and running very well, and developing -slower than most kids, but otherwise well. He took a quick look at his medical records, and saw that his kidney tests (a common issue in JS) and other tests came back all perfect. He then realized it can't all be Joubert Syndrome, as it would be too silly to say Patrick just happens to be in the lowest end of that spectrum. We told him about the study UW is doing and that we have decided to participate. He said hopefully they will be able to tell us the name of whatever rare condition Patrick has. He was very happy we were cooperating in these type of things, and asks us to share the results with him whenever we got them back.

At the end of the appointment, he expressed again how amazed he was to see how quickly Patrick had progressed. I needed to hear that. I have been hearing it from my husband, from friends, and I have even noticed it, but I needed the specialist telling me that he has progressed so quickly it feels like a miracle. Patrick is doing so well I don't have to see him again, unless, of course, there is regress... But, he is doing unbelievable well. Whatever it's you are doing, just keep doing it.

I will keep praying. And hoping. And loving him unconditionally, because that's all I have been really doing.

Happy New Year dear friends and family.

Ocular Motor Apraxia Research by UW

A couple weeks ago I received an email from a person who came across my blog, who has a child with OMA and happens to live near where I live. Actually, our kids have even visited the same doctors! The email exchange has been really helpful to me so far, as the woman was kind enough to let me know about a facebook group for people with Ocular Motor Apraxia, and mentioned to me a research on Joubert Syndrome that she is participating on.

The Hindbrain Malformation Research Program, is performed by the Department of Pediatrics in the University of Washington, and they are currently receiving cases from people to examine. As I mentioned in one of my earlier posts, Patrick was originally diagnosed with Joubert Syndrome by his Pediatric Neuro-Ophthalmologist, but after the MRI was performed, the Neurologist ruled out Joubert Syndrome. This study goes beyond cases of JS, reaching to brain malformations like in the Cerebellar Vermis, so I have contacted UW about Patrick. They are requesting his MRI from Children's Hospital and after reviewing it, they will let me know if Patrick qualifies to participate in the Research.

I believe I have mentioned a few times before how fascinated I'm about the brain and the way it works, so anything, anything they are able to tell me after reviewing Patrick's MRI I know it will be so helpful I can hardly wait. This also means that if Patrick is found eligible, we will be contributing in the research, helping doctors to get closer to the answers people like us have been asking for a very long time.

If your child or you have OMA, or have had an MRI performed, with the results indicating any type of brain malformation, I encourage you to contact UW about participating in the research. One of the most frustrating things about Patrick's condition is that there is so little information about it. OMA is a rare disorder, there aren't many people out there with OMA, and so not much research has been performed. But OMA exists and there are thousands of people in the planet trying to find answers to their many questions. If this research can help to answer even a couple of those questions, I say it will be already worth it. But this research can't be done without your help.

My communication with UW has been very smooth so far, and they are very prompt to respond, so at the very least, I encourage you to contact them if you would like to find out more about the research. I will keep everyone posted about Patrick's eligibility and what UW tells me. Let me know if you participate!

Antibiotics during pregnancy: Cause of Patrick's health issues?

Last year, I wrote a post titled Could I have prevented Patrick's health issues?  The conclusion was that I couldn't have. Fast forward to today, there is a chance that I could have prevented Patrick's health issues after all.

A few months ago, I came across an article that talked about speech delay, something we have been dealing with in the past months. The article talked about a study performed to find out how antibiotics affected children while in the womb. The fact is, I have read in MANY places how antibiotics during pregnancy could cause most of the health issues that Patrick currently has, but I really didn't pay much attention to any of that simply because I didn't take antibiotics during my pregnancy. This time, however, in the study performed, women who took antibiotics up to one month before conception where considered as "having taken antibiotics during pregnancy".

I took antibiotics within one month before Patrick's conception.

On February of 2010 I got sick with a bad cold. It was a Saturday when I was feeling the worst so my husband took me to an Urgent Care. It turned out I had pneumonia. The doctor wrote a prescription for an antibiotic and sent me home. The medicine was making me feel very nauseous and sleepy but after a few days I started to feel better. I made an appointment with a family care physician anyway, whom I saw the following Monday and who has become our family physician ever since.

Couple months after the incident, I found out I was expecting my first child. I was (and am) completely sure that I didn't take the medicine while being pregnant so I knew Patrick couldn't possibly be affected by it. That's what I had believed all along up until the day I read the article. To read that women who took antibiotics up to one month before conception were considered at risk gave me the chills. Patrick was believed to be past his due date when I was induced, but once he was born, the doctor said that he was actually born two to three weeks early. So we don't know for sure how many days are from the last dose of antibiotics to his conception day. It may be slightly over one month, or it could be couple weeks.

 Also, I recall that when I saw the family physician, she said she didn't understand why the doctor at the urgent care had given me that particular antibiotic, because it was so strong that the symptoms are awful, and so she didn't like to prescribe them. So there is a possibility that with the medicine being so strong, it could have taken longer for my system to finally be antibiotic-free. This makes me so angry and sad, because regardless of whether Patrick was affected by it or not, to know that antibiotics could potentially harm babies that are still to be conceived makes me wonder why doctors don't have the courtesy to tell you so. They sure tell you to not take certain medicines if you are pregnant or breastfeeding, but they won't tell you to wait at least a month or two after the last dose to get pregnant, specially with drugs that could potentially harm the baby in the womb.

I guess I will never know for sure whether or not taking antibiotics before conceiving Patrick was the cause of his health issues, and while some may think there is not point on worrying about "what if", I thought it was important to write this to make women aware of the dangers of antibiotics during pregnancy, even if you aren't pregnant just yet.

Overcoming Behavior Issues: Nutrition

Patrick is a skinny kid. He's always been above average in height. In weight however, was average or above average as a baby, but under average as a toddler. Patrick looks like my husband when he was a child, but with a darker skin tone, eyes and hair. We like to say that Patrick is a Mexican version of Tim. The fact that Tim was so skinny, but healthy as a child, made us think that Patrick's low weight was only a matter of genes.

Patrick was breastfed from newborn up to the age of 8 months. I think I could have done it longer but I had gotten back to work for a few months then, and it was getting more and more difficult to manage both. So I started giving him Similac. He started eating solids at about 6 months, but it was quite a slow process, which I'm relating to his low tone in the mouth (it was difficult for him to chew and swallow some foods). Patrick didn't pass stools everyday. Even when he was breastfed, he would go 3-5 days without passing a stool, but it didn't seem to bother him at all, so the doctor said we shouldn't worry. When he turned 1 year, we began to give him whole milk, and more foods were added to his diet. That's when I feel the real constipation problems began.

Without getting into too many details, I can say that he was in severe pain when trying to pass a stool. Because of it, he was eating less and less every time. We thought lactose was the problem, so we tried so many milks for months, from lactose-free, to almond, soy and coconut. The problem seemed to ease a little for awhile but it always came back. We took him to his pediatrician and it was suggested that we gave him Miralax. Miralax was doing the trick often, but I didn't like the idea of having a toddler taking medicine to be able to go potty. We also had to give him suppositories when the problem was really bad. So we kept trying things, like reducing the intake of bread and pasta and adding more fruit and fiber, reducing milk and adding more water... but nothing seemed to eradicate the problem.

Patrick started to be a really picky eater, occasionally eating amazingly well, but most of the times being chased to get him to eat. He loves everything eggs and enjoys fresh fruit and berries, but getting him to eat lunch and dinner is usually a battle. About a year ago, we tried adding Carnation Instant Breakfast to his milk, and it seemed to be working at first, but after a couple of weeks, he didn't even want to eat his fruit or yogurt snacks. The doctor figured that the Carnation was probably making him too full and instead of helping, it was making things worse. So we stopped the Carnation, and we continued to hope that each day would be one of those lucky days when Patrick happened to eat everything we gave him.

I got a wake up call when at one of his appointments we realized he hadn't gained weight in the months prior. And then after that we noticed he started to lose weight, so we made an appointment with a nutritionist and a gastroenterologist at Children's Hospital. They ran a number of tests, to see if he had any sort of allergies or intolerance to gluten (celiac disease), but everything came back OK, and we were told (again) that Patrick needed to be on Miralax daily. I still hate the idea of having him on Miralax, but like the doctors said, by trying to avoid to have him take medicine, he is not eating, hence missing out on nutrients that are important for his development. They were right on that, because now that he is passing stools everyday, his appetite is significantly better, so it's easy to get him to eat his veggies, fruits, meats and such.

He is still a picky eater sometimes, but most of the times he eats well. He is back to having Carnation Instant Breakfast and looks like he is slowly putting on some weight. Best of all, he isn't suffering due to the constipation issues. It broke my heart every time he had to go through that pain. But now I have my happy Patrick again. His mood is so much better now, which makes him be more willing to sit and play with me nicely for long periods of time, learning new things. The difference is amazing, like two completely different boys. We also added Magnesium: My husband sprays some on his skin at night few times a week, or we add Epson Salts to his bath. It makes him so relaxed, and a happy little boy.

I found in several forums moms talking about giving Fish Oil to their kids with developmental delays. Most moms then would say that their kids were doing significantly better (like talking more, or improved motor skills), however, some of them didn't want to attribute the improvements to the Fish Oil, but rather say the improvements were due to their kids getting older. I figured I didn't lose anything by trying so we added Fish Oil to his morning shakes. After a couple of occupational therapies, where Patrick played and behaved like a perfect little boy for the whole sessions, his therapist asked me what did I think had made the difference, to which I responded that he was eating significantly better every day. I told her about the magnesium baths, and then I told her about the fish oil. And as I said that, I heard myself saying "I'm not sure if that really made any difference though, maybe he is just getting older, hence more mature". That's when I remember these other ladies suggesting that the Fish Oil wasn't the real cause of their kids improvements, but only a matter of coincidence. I realized then that it couldn't be a coincidence that all of our kids happened to "grow and mature" when they started to take the fish oil. So I'm going to give Fish Oil its very own credit, too.

If you have a picky eater like mine, chances are his nutrition is causing some of the behavior issues you are dealing with, along with some of his developmental delays. A better nutrition didn't "cure" Patrick, but it's definitely speeding up his development. He isn't constipated any more so he is happier, and he is more often with a satisfied tummy, therefore he is willing to relax and pay more attention on how to do new things that were past due, like making puzzles. Instead of throwing the puzzle pieces to anyone who passes by, my boy is finally using the pieces for what they were made: making puzzles!!

Apraxia Awareness Day

May is "Better Hearing and Speech" month. May 14th is Apraxia Awareness Day (celebrated this year for the first time).

There is a chance that Patrick has Speech Apraxia.

I began to get desperate about Patrick's slow improvement in his speech. His speech therapist has been trying to help us with his behavior issues as well, so not much has been done regarding his speech. The most frustrating thing of all, is to not know exactly what the problem is. Is he stutter? Is he dyslexic? Can someone please give me a name, so I can read about it and know how to better help him? Patrick is still too young to give a specific diagnosis on his verbal delay, but I needed to speed up the process, so I decided to get myself educated in speech delay, by researching information online.  A speech delay website recommended this book, and given the great reviews on amazon, I ordered it in a heart beat. I also came across this video which also had great reviews from parents. Patrick doesn't like watching TV, but, who cared at that point, I was (and still am) ready to try anything that can potentially help him, so I went ahead and ordered it as well. (No, I'm not going to have him try Nutriivida despite the claim that these diet pills help children with Apraxia and Autism)

While waiting for amazon to deliver my orders, I continued reading stuff online the next couple of days, and I came across this website which explained the characteristics of a child with speech apraxia, and the more I read, the more I felt that the website was describing Patrick. Before switching my google search from "speech delay" to "apraxia", I thought I should get a second opinion from the person that knows Patrick as well as I do: his daddy. I shared the link with my husband, without saying anything, and when he finished reading he said "that's Patrick".

I was excited. I had a name to his problem. I also had received the video and book and Patrick liked loved the DVD. For the first time in his life, he sat  to watch something for more than 5 minutes. Go big or go home? He watched the whole 40 minutes of it. We were on track. Except, I was about to discover that this new track could be filled with obstacles: Apraxia isn't an easy thing, as a matter of fact, it's quite a pretty serious disorder.

"Childhood Apraxia of Speech (CAS) causes children to have extreme difficulty planning and producing the precise, highly refined and specific series of movements of the tongue, lips, jaw, and palate that are necessary for the production of proper speech. It is among the most severe of speech and communication problems in children. While the act of learning to speak comes effortlessly to most children, those with apraxia endure an incredible and lengthy struggle. Although not life threatening it is life altering as families are left to cope with the emotional, physical, and financial challenges of having a child diagnosed with CAS. With early intervention and appropriate therapy, most children with CAS will learn to communicate with their very own voices."

I don't want Patrick to have Apraxia. (Heck, I don't want Patrick to have any of the health issues he has, but he does have them, and we have to live with that fact.) I talked to his speech therapist, but she said it may be too early to give him this diagnosis. She believes that while Patrick presents some of the characteristics of verbal apraxia, he is also able to do some other things that children with apraxia are usually not able to do. However, she doesn't want to rule out the possibility given that Patrick has visual apraxia (Oculomotor Apraxia).

The more I learn about verbal apraxia, the more I realize the hurdles that could come, but I must focus on the happy ending, and figure out a way to get there soon. After all, if it's not a happy ending, then it's not the end yet, right? It happened with walking. I did fear he wouldn't walk, but he eventually did, he does, he runs. We have to get him to talk too.While we get to the happy ending, let's work on the story, and let's try to make his story the least difficult possible. Hopefully soon we will learn that Patrick does not have speech apraxia, and just some minor speech disorder or even better, just a speech delay. But that doesn't change the fact that right now, at 30 months of age, he is still not able to put two words together, and 95% of his single words aren't even words but just mere approximations that nobody is able to understand but me and his dad.

This is why I'm writing this today. I'm honoring Apraxia day by giving you an overview about Apraxia, and sharing with you our struggles as parents.  One of the things I fear the most, is my son being bullied, or simply having to hear constantly from other kids "mom, what is wrong with that kid?" while being pointed at. If more people are aware of these disorders, we could help kids overcome the emotional distress that their inability to express themselves like most kids causes them. I invite you to share this post, or this link, so that when you see a 5 year old child that isn't able to talk properly, but that otherwise looks completely "normal" you don't ask yourself "what is wrong with this kid?", and instead, offer a warm smile and treat him like any other child.

Every child deserves a voice!

Overcoming Low Muscle Tone: Professional Help - Doctors

This post is part 5 on the series: Overcoming Low Muscle Tone. If you want to read part 4, Playing at home, please click here.

If you have an overall healthy child, the following may seem like a ridiculous long list of specialists to have to see, specially for someone who is only 2 years of age, but when I read stories of other moms that are going through a similar experience, I often seem to fall short on the list of doctors! By having hypotonia, you may think that only physical therapies are necessary, but there are a number of areas that get affected too, for example, nutrition.

I don't want to overwhelm Patrick with too many doctor visits, and this is the main reason why I have put on hold visiting some specialist in the hopes that he will overcome some of the problems as he grows, without needing to see the doctor. But I don't want to wait too long either, because when it comes to developmental delays, the sooner you take action, the greater the improvements in the child.

a) Medical Specialists

• Pediatrician: The pediatrician is for your child, what your primary family physician is for you. He is your "go to" doctor when your child is not feeling well. If you think that something just isn't right in your child, check with his Peditrician. With his expertise he will be able to give a general diagnosis, and if necessary, suggest to see a specialists, he will tell you which one is the most appropriate and give you referrals. Patrick's pediatrician was the one who referred us to the neurologist, and that was the right call.  (To read about how this particular experience went for us, please click here.)

• Neurologist: We originally saw the neurologist because of Patrick's eye issue, and he mentioned that hypotonia could be a consequence of it. The neurologist was the one who told what is what Patrick has and suggested to get him Early Intervention. (If you want to read about our visit to the neurologist and the diagnosis, please check out this post.) We had to perform a CT Scan to find out what the problem was. Perhaps your child has Down Sydrome, or Cerebral Palsy, or something else, so finding out the reason behind, will make it easier for you to treat the core issue, and possibly help better on his low muscle tone. Perhaps your child has none of that, but you still want to find out the cause and may choose to do genetic testing, CT Scans on your child or other tests.

• Neurodevelopmental Pediatrician: It's important that you have a medical specialist overseeing periodically the improvement (or lack thereof) on your child. Patrick's regular pediatrician doesn't treat any of Patrick's specific issues and even though the neurologist was important to get a diagnosis, he isn't doing any follow-ups. This is why we also see a neurodevelopmental pediatrician at Children's Hospital. They evaluate Patrick every 6 months, and are very knowledgeable of his conditions. At the first evaluation, they suggested we added speech therapies, when we were just applying the "wait and see", thinking he was just a late a talker and would start talking soon. Well, 8 months after that visit, Patrick is still doing approximations of single words. They knew this wasn't just a matter of a bit of a delay, but rather an issue that had to be addressed by a professional. Patrick eventually started taking speech therapist and I can only imagine how much further behind he would be if they didn't have suggested that. 

• Nutritionist: At the second visit with the neurodevelopmental pediatrician, the doctor suggested to see a nutritionist, due to Patrick's low weight. All along I have been trying to give him extra food and give him Pediasure because I know he could use more weight, but I didn't think it was necessary to see a nutritionist. He is too skinny, but so was my husband when he was Patrick's age. Plus, he is otherwise very healthy and very active. He was close to the 30 percentile on his last visit with his regular pediatrician, but what the developmental pediatrician noticed was that his percentile kept going down at every visit. Like I said, I don't want to keep adding more and more doctors to Patrick when they aren't necessary, so before calling the nutritionist, I decided to be more aggressive on his feeding schedule, portions and contents, and I added a general vitamin on top of the vitamin D he was already taking. After 6 weeks, we didn't get positive results. The dev ped was right, he needed professional help. I called last week to make an appointment with a nutritionist at Children's Hospital, but of course the soonest they can do is the end of July. Last week I also read that most kids with low muscle tone and developmental delays have nutrition issues, including low weight and constipation, which Patrick has. The article, which you can read here, explains how important is to address their nutrition in order to get positive results in their development. So now I'm banging my head on the wall for not acting sooner. I will make sure to write a post after the visit to the nutritionist takes place.

b) Therapists

• Physical Therapist
• Speech Therapist
• Occupational Therapist

This is already a long post, so I will talk about each therapist in the next post, likely in the next few days.

Please note that Patrick has also seen a pediatric neuro ophtalmologist to check on his Oculomotor Apraxia, but, I didn't think it should be listed, as this is not related to the hypotonia. Low muscle tone is often a "symptom" of a greater problem, so it's likely that you may need to see additional specialists to treat the core problem.

Developmental Evaluation Results

The title of this blog, Overcoming Tiny Obstacles, couldn't have been more accurate to what we are experiencing... as the times goes by, I get more convinced about it. It's one obstacle after another. Tiny obstacles, but obstacles at last. Trying to overcome each one as they present, and praying and hoping that they don't get bigger, or more difficult, and that once and for all, they all disappear. But that's not happening... not just yet.

Just when we got all excited about the huge improvement of Patrick's low muscle tone, we discovered that his ability to talk was affected too. We thought that by being able to explore (by running, climbing...) the same way as his friends, he would reach the same developmental stage as them. But then speech delay came along and we realized how important was language in the learning process. How can he understand abstract concepts, like counting or feelings, when he can't even name the very basic ones?

Could I have prevented Patrick's health issues?

My husband and I had been married for a year and a half when we found out we were pregnant. I told him the news on his 30th birthday and we couldn't be happier.

When I had my first OB visit, I was asked to fill out a form that had specific questions about my lifestyle and background. Do you smoke? Do you drink? Do you exercise? What's your race? Marital Status? Age? Number of Pregnancies? Miscarriages? And then a long list of illnesses to which I had to write whether we or any member of our families ever had.

Patrick's Oculomotor Apraxia

Patrick's Oculomotor Apraxia is not progressive. Patrick's MRI showed no indication of Joubert Syndrome, or any other syndrome. Patrick has shown gross and fine motor delays (which have improved significantly), borderline speech delay, but no cognitive nor social delay whatsoever. So all in all, so far we can say that of all Oculomotor Apraxia cases, Patrick has a mild to moderate case.

What is Oculomotor Apraxia?

Congenital Ocular Motor Apraxia or Oculomotor Apraxia (OMA) is a rare disorder where the person is unable to move the eyes smoothly to follow objects horizontally.

Still confused?

Think of a woman passing by in front of you. The person is walking from left to right and you follow her with your eyes, but don't move your head! Just move your eyes from left to right slowly, following the person walking. Usually people can do this without any problem. People with Oculomotor Apraxia can't. Their eyes will follow the person, but couple seconds later the eyes jerk, making them lose sight of her, having to move their heads to try to catch up to where she is now.

Learning the diagnosis

Appointment with the Neurologist:

In the last post, I talked about how we ended up getting an appointment with a neurologist to find out more about Patrick's eye issue. That appointment went well. The neurologist was extremely nice and patient. We had so many questions, and we also had to answer so many questions. Patrick was very good cooperating with the simple tests the doctor performed at his office, like following objects from side to side, and checking up his body, his reflexes, abilities and such. He said Patrick had something called "Oculomotor Apraxia". The way he explained it, made my husband and me feel better about the whole situation. "He was born with it, it won't get better, but it won't get worse. He will learn to deal with it, and will learn to compensate it as he grows. Overall he can have a normal life".

We were told that an MRI was necessary to find out more about the "level" of the damage, the causes, and such. He referred us to a Pediatric Neuro-Ophthalmologist that specializes in his condition. We had a trip planned to Mexico to celebrate Patrick's Baptism in 3 weeks, and Patrick and I would spend one month in Mexico, so time was kind of an issue. The Neurologist was nice enough to tell the eye doctor to squeeze in an appointment before we had to leave for Mexico. The MRI was scheduled 3 days after our return from the trip.

Appointment with the Neuro-Ophthalmologist:

The visit with the Pediatric Neuro-Ophthalmologist didn't go well. As a matter of fact, it was the worst day of my life. He said that Oculomotor Apraxia was one of the indications of something called "Joubert Syndrome". Another indication was decreased muscle tone, which Patrick seemed to also have because by then, at almost 10 months old, he wasn't crawling, pulling up, and had just started to roll over. He said the MRI would only confirm what he was telling us.

How mommy instincts helped my son

My husband and I were spoiled with Patrick in so many ways. He wasn't a colicky baby, he took always good naps and learned -on his own- to sleep through the night by the time he was 3 months. Despite that it took me some weeks to figure out the breastfeeding part, once we got it going it was easy and I enjoyed it very much. He was very personable, and very, very smiley. Very smiley. He learned early to play with rattles and other baby toys. He learned to sit without support by the time he was 5 1/2 months old.

Patrick, 4 months old.

But by the time he was 3 months, I noticed something wasn't right with his eyes. It seemed like they wouldn't "follow" his head movements smoothly. Sometimes it was more noticeable than others, and in fact, some people wouldn't even notice it at all. I told my husband and some family members, expecting to hear "oh you are right, you should take him to the doctor" but all I heard was "mmm no, I don't see anything wrong". I didn't want to look like a crazy mother, and to be honest, at that point I had no other reasons to worry about him. He was otherwise healthy and happy, so I figured I could wait a bit longer to see how it developed.