2 Different Subjects: Overview of Speech Assessment and Frustrations with Ocular Motor Apraxia

Getting another post in before the New Year...:)

Mackenzie had her speech assessment last week. It went very well. Mackenzie enjoyed having another therapist come into the home so she could entertain them (since I'm certain Mackenzie thinks that's the reason why the therapists come :)). The assessment consisted of the speech therapist asking me and BJ questions and also observing Mackenzie. We won't know the results of the assessment for a few weeks but the therapist feels that Mackenzie will benefit from speech therapy. She mentioned that Mackenzie will probably receive speech therapy twice a month. The therapist could tell that Mackenzie has difficulty forming words and will whine when she wants something. Mackenzie also gets frustrated when we don't understand what she wants. I do feel like it will be a matter of time before Mackenzie's vocabulary grows. Just in the past few days she has started saying a few new words. This morning she looked at my husband, smiled, and said "BJ!". BJ and I both questioned if we heard her right and after a few more times of Mackenzie saying "BJ", we knew she was actually saying his name. A few minutes later I pointed to BJ and asked Mackenzie "who is that?" and she smiled really big and said, "Da-eee" (her way of saying "Daddy").

The speech therapist also assessed Mackenzie's receptive language (what she understands such as commands, etc) and said that Mackenzie appears to be in the 27-30 month range. I must admit that it's so nice to hear that Mackenzie is 6-9 months ahead in a certain area when the focus is typically on the negative aspects of the disorder such as her mobility delay (and now possible speech delay). I have been told by many friends and family that Mackenzie is a very bright child however hearing it from a therapist really made me realize how great she is doing in that area. :)

Now to turn to a whole different subject. Last week was a very frustrating week. I guess we all have our times of questioning why things are the way they are and worrying about what is to come. As Mackenzie gets older, she is also starting to realize more. She is getting frustrated with not being able to do all that she wants to do (and what she sees other children her age doing) and is getting frustrated trying to tell me what she wants and I'm not able to understand her. At her last check-up the doctor said that it is good that Mackenzie shows frustration. But of course it does bother me to see her become frustrated over situations that I am also getting frustrated about. I have connected with another mother in the Facebook group whose son with OMA is a day younger than Mackenzie. It has been so helpful being able to relate to someone going through the same thing. One day last week when I was having a hard time, she called me stating she was frustrated with how her son is having so many balance issues and difficulty with walking. We both questioned if we were doing all that we should be doing for our children. She posted on the OMA's Facebook group about her frustration and it was amazing the response that was given. People were very open and honest about how they have had similar feelings and have worried about their child with OMA. OMA is such a rare disorder so there is a lot of worry that comes from the uncertainty of what the future holds plus the worry of watching your child have so much difficulty with things that come so easy to other children. Those who have an older child with OMA gave encouragement that even though their child went through a lot of ups and downs the first several years, that their child is doing quite well and doing things they never imagined they would be doing (such as riding bikes, jumping, skipping, running, excelling in school, etc). Someone mentioned how her child is determined and stubborn and even though it takes her child longer to do things, it makes her child push even harder and be even more determined. I feel that Mackenzie is already this way and will become even more determined as she gets older. I know it is going to be hard to see Mackenzie struggle in many areas (since I'm already witnessing that now) however it will make her push harder and when she does accomplish something, it will make that moment even more exciting.

I truly appreciate all of the encouragement that I (and my husband) receive from friends and family. Last week ended so much better than it started. I was frustrated at the beginning of the week, wondering why Mackenzie isn't walking when she is almost 2, wanting to know what struggles she will face, what the future holds, etc and even though I am still worrying, I'm not letting my frustration overcome me. My mom and sister reminded me to remain patient and of course reminded me that I have a very sweet and bright child. Close friends told us they are praying for Mackenzie, and I reminded myself that I truly am blessed with a wonderful daughter and a very supportive husband.

Here are a few pictures from the past week. Mackenzie continues to ride her bike throughout the house with minimal help. She now has a new buddy who has to join her wherever she goes!

She has to make sure she has her sunglasses with her at all times (even when it's dark outside:))

Mackenzie looks quite tall in this picture and of course quite cute. :)

My favorite picture... Mackenzie was watching "A Charlie Brown Christmas" with BJ and put her arm around him and kissed his cheek.

So once again- Merry Christmas and Happy New Year! I will be sure to post a few pictures from Christmas and hopefully one or two new videos. :)

Monthly Update :)

The Facebook group on Ocular Motor Apraxia has been quite helpful. I am continuously learning more from adults who have OMA and from parents whose children have OMA. It is interesting how some describe what it is like to have OMA. One person said that learning to walk with OMA is like learning to walk on a merry-go-round. I often wonder what it is like for Mackenzie. It is obvious that she has difficulty with her balance. Does she get dizzy when she tries to stand up and when I'm holding onto her hands walking with her? Is the reason she often runs into the wall when she is crawling because her depth perception is off? It will be interesting to ask her these questions when she gets older.

This past week I woke up and had the worst pain in my back. BJ dragged me to the doctor and I found out that I have a pinched nerve. After laying down for 2 days straight, I feel much better. The doctor said that it was most likely due to the lifting and carrying that I do with Mackenzie (since she is close to 30 lbs:)). From a selfish standpoint- this is a good reason why I look forward to Mackenzie walking.:)

Mackenzie is becoming quite independent. She pushes my hand away when I try to help her and will tell me "no". She is the most determined child! I do get nervous when she does things on her own since she still loses her balance and has hard falls however they are not as often as they used to be. Mackenzie learned how to pull up on the couch and turn herself around to where her back is leaning back on the couch while she is standing up. She loves watching TV in this position. Sadly, there are still times when she will randomly lose her balance and fall straight down on her side but she will let out a brief cry, turn herself around and get right back up. Here is a picture of her leaning up against the couch, as proud as can be!

She has also learned how to get on and off her bike and scoot throughout the house. This is a huge improvement from just a month ago when she would need a lot of help getting on and off and would lose her balance and fall off of the bike if I wasn't there holding her up. I love how proud she is of herself!

 

Here is a video from a couple of days ago when Mackenzie decided to show us her  new way of getting around. She is determined to walk! The physical therapist told us that a child typically does this around 11 months old. Three months ago the developmental pediatrician told us that Mackenzie was at a 9 month old's development when it came to mobility. I am very thrilled that she has made this much progress in just 3 months!:)

Long video however it shows how well she is doing with riding her bike.:)

 

 

Mackenzie has a speech assessment this Thursday. She was referred by the occupational therapist. Mackenzie says some words however the OT feels that Mackenzie may be a little behind the "average" with her speech. 

We go to UVA on Janurary 10th to see a Neuro-Opthamologist. Mackenzie went to the doctor a couple of weeks ago for an ear infection and saw a different pediatrician (than her primary pediatrician) who was very interested in Mackenzie's OMA. The doctor gave good insight and advice on what route we should take and referred us to a Pediatric Neurologist at UVA. We don't have a date set for that appointment. I'm looking forward to Mackenzie seeing both a Neuro-Opthamologist and a Neurologist so we can hopefully gain more insight as to what exactly is going on. 

Hopefully my next post will be filled with all new information that we get from her upcoming appointment with the Neuro-Opthamologist! :)

~Merry Christmas and Happy New Year!~

Another post! :)

It's been almost a month since I started the blog. I thought I would have sorted through hundreds of short videos of Mackenzie by now and posted one or two from each month but obviously that has not happened. :) It's taking a little more time than I expected. Guess that's what happens when I have a 20 month old to entertain and walk around with what seems like all day long.:) This past week we have gone outside every day. I hold onto her hands and we walk around the outside of the house at least 3 times. Just a tad tiring and hard on my back! But Mackenzie gets so happy when she "walks" so I don't mind.:)

I failed to mention in the first post that Mackenzie was also diagnosed with Ataxia due to her unsteadiness. This diagnosis was made in September by her developmental Pediatrician. There have been several recent posts on the Ocular Motor Apraxia Support Group Facebook page. In one of the posts, someone mentions that their child has the head thrusts and eye movements that are common with Ocular Motor Apraxia but does not have any unsteadiness/lack of balance. I'm wondering if Mackenzie may have more of a severe case of OMA or maybe the Ataxia is causing the difficulty with balance and it's not connected to the OMA. It's questions such as this one that makes me wish that we had a doctor to go to who could answer. We are hopeful that we will find a doctor in the near future. Mackenzie has an appointment with a Neurological Ophthalmologist at UVA in January. We were asked to give a summary of Mackenzie's appointments and any doctor reports that we have (actually sent an email to UVA about an hour ago with the info). This is giving us a lot of hope since this means the doctor will already have information about Mackenzie before he even sees her. 

As for Mackenzie: Every two weeks she has physical therapy. The therapist continues to state that there is obvious progress with Mackenzie's mobility which I love hearing. Just the other day Mackenzie pulled herself up against the ottoman and attempted to climb on top of it. Of course I had to catch her from diving over the top and going face forward to the floor. :) Later in the day she tried to climb onto the couch to sit beside me. I know most parents dread the day that their child starts climbing because it means just another thing for the child to get into, but I am so ecstatic to see her attempting to do this. It means that I need to be right by her more often because a hard fall will most likely happen if I'm not, but I honestly don't mind. I love seeing her do new things. She was recently given a rocking horse that has been passed down through several families at church and it's by far her favorite toy. Again, I have to be right beside her because she has fallen numerous times but just the other day she was standing beside it holding onto the handles with both hands and let go with one hand. Then she slowly let go with the other. Granted, it was only for 1 or 2 seconds before she quickly grabbed the handles so she wouldn't fall, but she stood briefly on her own without holding onto anything!

In the past few months I have been asked the difference between Mackenzie's falls and a typical baby/toddler falling. People have told me that I need to let Mackenzie learn to do things on her own- that I shouldn't be right on top of her. Some say that she needs to learn how to fall and get back up because every baby falls often. I do agree that every baby does fall especially when they are learning to pull up and start walking, however, Mackenzie's fall are not the "typical" baby fall. For example, Mackenzie does a great job crawling on her hands and knees. It's been a few days since I've seen her do her "army" crawl. However, when she is crawling, she will randomly lose her balance and collapse to the floor. This is fine if it's on carpet, but when she is on wood or tile, it hurts. There are times when she is very close to the wall and will go to the side and bang against the wall. When she is pulling up into the standing position (holding onto something such as the couch) she tends to fall. She doesn't know how to catch herself. The best way to explain is to imagine if you are standing up and someone pushes you back. Your brain will tell you to bend your knees and to put your hands down to catch yourself. You may still get hurt but bending your knees and catching yourself breaks the fall quite a bit. When Mackenzie falls, she does not bend her knees or catch herself. Imagine standing straight up and falling back without bending your knees or catching yourself with your hands. You could get injured badly. That's why I am always right by her. When she is pulling up, I simply guide her with my hands near her waist and make sure she does not fall. Some people see this as doing it for her but I'm letting her do all of the work but am keeping my hands nearby to catch her if she falls (because she has fallen straight back before and it was an extremely hard fall). I never want her to get dependent on me being there by falling into my arms on purpose so when I see her falling I catch her but then guide her to the ground and show her how to catch herself. Mackenzie is starting to become independent because she will push my hands away from her and try to do things all on her own (of course I still keep close by because she does still fall). I love this because it means she is determined to do things on her own. :) 



Here is a beautiful picture of Mackenzie taken this past week. Even though she's been pulling up for a little over a month, I still love seeing her standing up when I walk into her room after nap. She always seems so proud of herself and of course we are so proud of her! :)

Here is one from Halloween. She was the cutest cat. :)

Here is a recent video that I posted on YouTube. Mackenzie mastered the "E I E I O" part of Old McDonald. Very cute! I posted this video because you can see Mackenzie's "head thrusts" while she is focusing on opening and closing the lid to the cup. The head thrusts seem more prevalent when she is doing something that has to do with her hand-eye coordination. I'm assuming it has to do with her focusing closely on the object. Right at the end she jerks her head to the side. She tends to do this when one of us or the cat walks by her while she is focusing on one of her toys. I have added a few other videos on my YouTube page (bjwhitmack), however, I warn you that some are long. I have to go through and edit/cut part of them out.

**Please excuse the singing on my part! Mackenzie's singing is much cuter than mine so it's worth watching. :)

Let's give this a try.... Ocular Motor Apraxia

I never thought I would be one to blog but after all that we have been through the past several months with Mackenzie, I have felt the need to blog to try to connect with other families going through a similar situation and to keep friends and family updated with Mackenzie. I hope to post videos and pictures (recent and older ones). Right now, I plan to give a summary of all Mackenzie has been through. The blog won't always be this boring! I promise! :)

When I tell people that Mackenzie has a rare disorder called Ocular Motor Apraxia, I am immediately asked what it is. It's hard to answer others when I don't have many answers myself. There is very little information online and most of the doctors we have seen know less than we do. I am quite unsure of what the future holds for Mackenzie. I honestly feel that Mackenzie will be fine in the future but that there may still be a long road ahead of us with many doctors appointments, more tests, and possibly more MRIs. 

Now onto the past year with Mackenzie....

When Mackenzie went for her 9 month check-up her primary pediatrician shared concern about Mackenzie's development. She was not crawling and could not sit up independently. BJ and I never had too much concern before this appointment. Mackenzie was a large and long baby (over 9 lbs and 23 inches long) when she was born so we thought that maybe she was slow with her mobility due to always being a bigger baby. She had a large head (was well proportion to her body) so her head and neck control was not the best for several months hence why we thought she was late with sitting up and crawling. Mackenzie's pediatrician referred us to a neuro-developmental clinic. The clinic consisted of a developmental pediatrician, physical therapist, and nurses. They observed Mackenzie for a couple of hours. Mackenzie's cognitive skills were on track however her mobility was already a few months behind. During the visit we were asked about Mackenzie's eye movements. Mackenzie had always looked out of the corner of her eyes and turned her head but again, we assumed that it was due to her lack of head and neck control. We were then referred to a pediatric neuro-ophthalmologist. We went to the ophthalmologist in January (when Mack was 10 months old) and were told that Mackenzie's vision was perfectly fine but that there was concern with looking out of the corner of the eye and asked to come back in June as a follow up.

Over the next few months Mackenzie hit a few milestones. She started doing her own crawl (what we called the "army" crawl) where she scooted on her stomach. This began around 10-11 months and started out very slowly. She started gaining a little more control when sitting up (still could not sit herself up on her own). We still put pillows behind her when she sat up since she would still fall back however it was not as often. We celebrated her first birthday in March and taught her to hold up 1 finger when we asked how hold she was (she is still proud of herself when we ask her to do this :)). We had an appointment in April with the neuro-developmental clinic. Just like the last appointment, Mackenzie was on track with her cognitive skills but still behind with her mobility and some fine motor skills. We were told that Mackenzie was a very sociable (which we already knew that one!) and very determined baby (we have been told this by so many doctors since then). In June, we went back to the neuro-ophthalmologist thinking that it would be a quick appointment since we thought Mackenzie was doing much better. The doctor said that Mackenzie's eye movements were more pronounced and mentioned she thought Mackenzie may have Ocular Motor Apraxia but admitted not ever having a patient with OMA so she would have to do more research before making the actual diagnoses. After the appointment we came home and of course I immediately started doing research online. At one point I read how an MRI (and possibly other tests) are done to eliminate tumors, masses, etc found on the brain. Soon after, I received a call from the ophthalmologist who said that after doing research she wanted to set up an MRI. The following week we had Mackenzie's 15 month appointment and we shared concern about wanting to get an opinion from a doctor who had seen patients with OMA. I did feel that Mackenzie had OMA but also thought it would be best to get a second opinion. The pediatrician set up an appointment at Duke's Pediatric Eye Center. We were told by Duke to go ahead with the MRI before our appointment. The MRI was not much fun but Mackenzie was great through it all. She had to be fully sedated but had no difficulties. After a very long few days, the results came back and it showed some underdevelopment but the neurologist felt that this was due to Mackenzie only being 15 months old. We were very relieved and thankful that the MRI was clear. We went to Duke and the doctor confirmed the diagnoses of OMA.

That same week of the MRI, through all of the stress, I was on the phone and noticed Mackenzie was sitting up. I didn't remember putting Mackenzie in that position (since she was still unable to sit up) so I put her back on her stomach. Within a few minutes, at 15 months old, Mackenzie easily put herself up in the sitting up position. I started clapping and was smiling so big (probably looked like a fool!). Mackenzie started doing the same thing and for weeks after, every time she would put herself in the sitting up position, she would look at us waiting for us to praise her. :)

During the month of June, I had many conversations with the developmental pediatrician from the clinic. Since Mackenzie was still several months behind on her mobility, the doctor thought it would  be best to start physical therapy (and possibly other therapies) for Mackenzie. After several appointments/assessments we finally started therapy at the end of August. As of now, Mackenzie has physical therapy twice a month, occupational therapy (to help with her fine motor and hand-eye coordination) once a month, and sees a vision specialist once a month. We have been very pleased with the therapists. They come into the home and have done a great job working with Mackenzie.

The past 2 months have been busy with therapy and another follow up at the neuro-developmental clinic. At that appointment, we were referred to the Genetics's Clinic at UVA. Mackenzie was tested for ataxia telangiectasia. We were very relieved when the test showed that her levels were normal however we were told that there could still be a very slight chance that Mackenzie has this disorder or ones similar to it. We are in the process of doing more tests to possibly show that Mackenzie has a "mutation" in her gene that is causing the Ocular Motor Apraxia. The geneticist said that he feels that BJ and I both carry a very rare gene and because of that we had a 1 in 4 chance in passing that gene along to any children we have. Both parents must carry the gene in order to pass it along to the child. What are the odds of that? Mackenzie also was referred to a Pediatric Orthopedic doctor at UVA who said that due to Mackenzie's condition being more neurological (with her balance and coordination) that he did not see a reason for Mackenzie to have any type of brace, walker, etc. since it would most likely make Mackenzie have even more balance issues.

As for Mackenzie's mobility- she just turned 19 months and continues to make progress. It may be slow progress, but it is still progress! A little over a month ago, BJ and I both witnessed Mackenzie pulling herself up to her feet while in her crib. We were ecstatic! Mackenzie is now pulling up on anything she can and is starting to "cruise". She is quite stiff with  moving her legs but she is doing it. She also recently learned how to crawl on her hands and knees. She still does the "army" crawl occasionally but we are thrilled to see her crawling on her hands and knees the majority of the time. She loves holding onto our hands and walking around.She would walk for hours with us if we had the stamina to do so! I look forward to the day when she takes her first steps. I'm pretty sure we will be throwing a huge party when that happens.:)

As I stated before, there is a lot of uncertainty of what is to come. I have connected with an OMA support group on Facebook which has been great. There are parents going through exactly what we are going through who can relate to the frustrations and also can understand the excitement we have when the tiniest milestone is made by Mackenzie.

It's hard to explain exactly what is going on but the best way to put it is that Mackenzie appears to have difficulty with her balance and coordination. Her focus is off (although her vision is fine) and this is why she has "head thrusts" where she turns her head to the side and comes back to regain focus on an object or person. We always have to be right there beside Mackenzie. From the time we would try to sit her up, she would lose balance and fall over (not like the typical baby or toddler falls- these are hard falls without attempting to catch herself at all). It became harder once she was more mobile and even harder now that she is crawling and pulling up on things. She is learning to accommodate and is very determined to do whatever she wants to do. She gets extremely frustrated when she falls or when she is physically unable to do something which can make us frustrated as well. But even with all of the difficulties we have faced, both BJ and I know we have the best child we could ever ask for. She is the sweetest girl with a cute sense of humor. She has the best personality and brings a smile to everyone who meets her. We are very blessed to be her parents!

I didn't want to end without posting a cute picture of Mackenzie. There will be many more in future posts. :)

***I am pretty sure that the disorder is called Occulomotor Apraxia in the USA and it is called Ocular Motor Apraxia in other countries. I use Ocular Motor Apraxia since that is what is used on most websites.

This website seems to give a brief, yet good overview of OMA.
http://www.ssc.education.ed.ac.uk/resources/vi&multi/eyeconds/ocmoap.html
"What is Ocular Motor Apraxia?
'Fast' eye movements are called saccades. We use saccade eye movements to quickly change the direction that our eyes are looking. This helps us look at something that has suddenly moved near to us. This is so the eyes can focus sharply on an object. The eyes can then give clear signals to the brain to make clear vision. It also helps us quickly move our eyes across a page of writing while reading. Saccades are important in many other visual tasks. Ocular Motor Apraxia is a condition where a child has a breakdown (failure) in starting (initiating) fast eye movements.

Ocular Motor Apraxia has many different names. It is sometimes called Cogan's Ocular Motor Apraxia or Saccadic Initiation Failure (SIF). SIF is a useful name to help explain what the condition mainly is: a breakdown (failure) in starting (initiating) fast eye movements (saccades).

What is the cause of Ocular Motor Apraxia?
Many different parts of the brain control eye movements. If any part becomes damaged then ocular motor apraxia may develop.

A child may be born with these special eye movement control bits not working (congenital). Other children may develop it in childhood (acquired). There are many different reasons why a child might develop Ocular Motor Apraxia in childhood.

It is often not the only condition that the child may have. Children may also have
Learning difficulties
Delayed language development
Delayed sitting and walking skills
Delay in toilet training 

Does ocular motor apraxia get better?The lack of eye movement in ocular motor apraxia is first seen during the first few weeks of life. The movements of the head develop later. During this early stage the baby may wrongly be thought to have poor vision because moving targets can't be followed by the eyes. Quick side to side head movements called head thrusts may then develop. Long term follow up has shown that these head movements decrease gradually over a number of years in many children. In addition eye movements can improve with time in some but not all children. It is not possible to predict which children will show improvement and which will not."