15 Month Well Check

Haley had her 15 month pediatrician appointment. Can you believe it....15 months already!!!! She weighs little over 20 lbs and 31 3/4 inches tall putting her in the 10th percentile for weight at 75th for height. She is following a good and steady growth pattern. This is the first time we have seen the pediatrician since we got the Joubert Syndrome diagnosis. Of course, he had never heard of it, not that I had expected him to. I printed out some information on JS and the guidelines for yearly monitoring for complications for him. Other than the JS, she seems to be a happy and healthy little girl. She only got one shot today, and she did very well with that.

We all went to IKEA for the first time on Memorial Day weekend (I think there must be an IKEA in Heaven....I love this place!!!) We found the cutest little table and chairs for her. She and Will sit and color everynight before bed at the table. Her little legs aren't quite long enough to reach the gound yet, so she just sits indian style in her chair, it is so cute.

And here are some pool pictures from this weekend. This girl just loves water!! It may actually be therapeutic for her too. One of the suggested therapies on the JSF website is water therapy.

Joubert Syndrome

I wanted to wait and post about Haley's MRI until after we talked with the neurologist today. Her MRI was Tuesday. She did really well considering that she had to be put completely asleep during the whole thing because she had to be perfectly still during the MRI which took over an hour. By the time we got home you wouldn't have even known that she had anything done. She is such a trooper.

We saw the neurologist today, and deep down I knew that there would be something wrong. We wouldn't get the unexplained cause for her ocoulomotor apraxia that I had hoped for. She has what is called Joubert Syndrome. Its complicated to explain, and I don't have the energy right now to write it all out. This is copied and pasted from the Joubert Syndrome Foundation website, there is a link to their website on the right side of this page:

Joubert syndrome refers to a disorder in which there is a specific abnormality in the part of the brain called the cerebellar vermis. There is a group of genetic conditions and syndromes that may share this cerebellar malformation, and they are known as Joubert syndrome and related disorders (JSRD). These conditions have some characteristics in common, but there is a spectrum of symptoms and abilities in affected individuals. For additional information regarding this family of conditions, please refer to the Joubert Syndrome Foundation & Related Cerebellar Disorders website at www.jsfrcd.org.

Individuals diagnosed with classic Joubert syndrome traditionally exhibit the following features:
-Underdevelopment (hypoplasia) or complete lack (aplasia/agenesis) of the cerebellar vermis, usually indicated by the “Molar Tooth” sign found on an axial view of a brain MRI scan.
•Developmental delays—variable severity.
•Difficulty coordinating voluntary muscle movements; uncoordinated movements (ataxia).
•Decreased muscle tone (hypotonia).
•Oculomotor apraxia (OMA), which is a specific eye movement abnormality in which it is difficult for children to track objects smoothly. Eyes may appear to jump, with jerky eye movements.
•Difficulty processing and reacting to information received through their five senses.

Explanation of features:
Individuals diagnosed with Joubert syndrome have an absence or underdevelopment of part of the brain called the cerebellar vermis which controls balance and coordination. The severity of the resulting ataxia (uncoordinated movements) varies from person to person.
Decreased muscle tone is common in children with Joubert syndrome. As a result of the poor muscle tone, developmental delay (usually in gross motor, fine motor and speech areas) is common. Some children have also been noted to have abnormal eye and tongue movements. Developmental delays are usually treated through physical therapy, occupational therapy, speech therapy, and infant stimulation. Most children diagnosed with Joubert syndrome are able to achieve standard milestones, although often at a much later age.
Some individuals experience difficulties resulting from an inability to appropriately process information received through the five senses - hearing, seeing, tasting, touching, and smelling - as well as from their poor sense of balance and muscle movement. Some families have found that sensory integration therapy can help to minimize these sensory issues.
Overall health and growth are not known to be severely affected by this condition unless significant liver or kidney failure occurs.

Management and treatment:
Presently, there is no cure for Joubert syndrome. It is recommended that individuals with Joubert syndrome see the appropriate specialists necessary to help monitor their various clinical features. Suggested specialists include a nephrologist (kidney doctor), ophthalmologist (eye doctor), geneticist, and neurologist, as well as any others recommended by your doctor.
Screening for some of the complications associated with Joubert syndrome-related disorders, such as liver, eye, or kidney involvement that may become progressive over time, is recommended on an annual basis.

In plain English there is a bridge between the two halves of her brain that are either missing or underdeveloped and the two halves cannot communicate with each other. This explains her poor balance, not being able to walk or crawl, and her eye issues. The good thing is that this is not something that will get worse over time. She can only get better with time, not worse. As far as what she will eventually be able to do, we won't know for a very long time. We don't know for sure if that part of her brain is missing or just smaller than normal. The more that is there, the less severe this will be. For some reason, they couldn't see how much of the "bridge" was missing. More than likely if she is able to walk or talk in the future, it will happen at a much later age than normal. But the fact that she is making progress is a good sign that she could be a fully functional child. In the most severe cases, these kids can't even sit own their own, and she has been doing that since she was 7 months old, so that is a very good sign. The doctor also said that in very mild cases, some people are so "normal" that they may not even know they have it.

Right now we are involved in so many therapies it makes my head spin. She is getting all the medical care and therapy that she could possibly be getting thanks to our physical therapist being very proactive and getting us involved in a wonderful developmental program. She is getting PT and OT. This week she started a "preschool" which focuses on child development and the teachers are specially trained to deal with children with developmental delays. We are looking into getting her started in a visual therapy program also. So needless to say we are very busy and she is getting the best care possible.

Will and I are very optimistic that Haley will grow to be a "normal" child, we may just have to take a different route to get there. But what can you really say "normal" is? We have always known that Haley is a special little girl with or without our current issues. No matter what happens with her she is still our daughter and love her more than life itself, and she is still your granddaughter, neice, cousin, friend, god-daughter, etc. No diagnosis a doctor could give her can change that. She is still the same Haley that she was yesterday. There is no need to worry yourself to death, there is nothing we can do to change what is going on with her. All we can do is take one day at a time, go through with therapy, pray for the best, try to treat her like any other child and enjoy every minute we have with her.

Thank you for your prayers and please continue to keep us in your thoughts. If you have any specific quesitons please feel free to email me. I will try my best to answer them. I know this is confusing especially for those who don't have a medical background. It is sometimes hard for me to translate into laymen terms.

Small steps......sorry this is a long one!!!

Well, we had our opthamology and neurology appointments this week. We are all exhausted!!! It still amazes me how tolerant and patient Haley is with strangers. She was a perfect angel. Anyway, we went to the opthamologist (who came highly recommended because he is a neuro opthamologist) Tuesday. He did an eye exam, tested her vision (don't ask me how they test vison in a non-verbal baby!), dilated her eyes to look at the back of her eyes. He said her vision is fine, and her retina (the back of her eye), blood vessels, and nerves all looked good. He was able to give us the name of what the head shake, looking out of the corners of the eye thing is. It's called oculomotor apraxia (say that three times fast!). This is an easy to understand definition I found:

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.

How is Ocular Motor Apraxia diagnosed and how does it affect the way a child sees?

Ocular Motor Apraxia is often diagnosed by doctors asking parents questions about their child. Children often 'thrust' their head from side to side to change the direction they are looking. 'Head Thrusts' are a typical movement that helps a child overcome their difficulty in moving their eyes quickly. Children may also blink to start a fast eye movement.

Now before you go and Google oculomotor apraxia, understand that this is not a diagnosis, just the name of a symptom. There is a lot of information out on the web, some of it is kinda scary. But do realize that you never know what information on the web is correct, and you cannot self diagnose yourself based on what you find on the web. So I don't want to be getting phone calls worried that she has this or that. We don't know until all of the testing is done. I'm not wasting my time researching this quite yet, because I don't have all the facts......I don't want you to waste your time either, its a dead end when you dont have all the pieces of the puzzle.

Wednesday we went to the neurologist, Dr Nelson at Presbyterian Hospital in Charlotte. I really liked this doctor, and so did Haley. He seemed to be pretty positive about Haley's future since she is making progress and she is so social and interactive. He didn't feel like there was anything urgent to worry about, and didn't think this was a degenerative nerve problem. He said that sometime they never find a cause to the oculomotor apraxia, that some kids are born with it and it usually goes away on its own. But this is also a symptom of other disorders, so we had a bunch of labs drawn, and are going to have an MRI done some time within the next week or two.

She, of course, did not like having her blood drawn. But she quickly forgot that it even happened within a few minutes. For the MRI we will have to go to the Children's Hospital at Presby and they will have to sedate her because you have to be completely still for 30 minutes or so. She won't be completely put to sleep, but an anestheiologist will be there with her.

So we really don't know much more than we did before we went to the doctors, except that her head and eye movements do have a name. I will keep you posted on any news that comes along, but I think for now it is just a wait and see game.

I also want to report on what progress she is making. She can come to a sitting and standing position while holding our hands. She can stand with her back on a wall for several minutes at a time, and will sometimes push her back and hips away from the wall (which means she is starting to balance while standing) She is also starting to catch her self a little bit when she looses her balance. These are pretty subtle and small changes, but she is making progress which makes us feel better.

More appointments

sorry its been awhile since ive posted, ive been busy running haley to therapy while trying to work during the week. its a little overwhelming. so we had our occupational therapy evaluation yesterday. for those that dont know what OT is (the name has never made since to me....what is her occupation??) they work with fine motor skills, coordination, sensory skills, age appropriate activities etc. the therapist said that her fine motor skills are pretty much on target for her age, but her coordination skills and mimicking skills are a little delayed. she thinks it may have something to do with her vision. she may be having a hard time seeing what she is doing and putting it all together. so now we see OT once a week as well as PT once a week. she enjoys OT much more than PT. OT is more like playing, PT is more like working out. i guess shes like me, she doesnt like to work out!!!

we also have some appointments in march to see a pediatric neurologist and pediatric opthamologist. hopefully that will give us some answers as to what is going on with haley. but the waiting is killing me. but its normal to have to wait a while to see these specialists, they are always booked way in advance. so there is not much we can do except work with PT and OT in the meantime.

i would post some pics, but i honestly havent had time to play with the camera. but i promise once i get some pics i will post them.