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."
