Friday, April 17, 2009

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

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.


Christina said...

You are in my thoughts and prayers. You guys will get through this!!

Ashley Lowman said...

Well written! She is absolutely adorable and I am still waitng for my picture of her to put on the frig.

esther said...

Getting the diagnosis is very difficult and frightening. I remember that day and not knowing what to do with the new information or how it would help Jasmine. I made a decision to take one day at a time and pick and choose my battles with therapy and education as they came along. The other me read, researched, and attended conferences to educate myself. The conferences helped me to know which tests to run yearly and "sort of" what to expect. I met as many families as I could (tried to play with all the kids) and asked a lot of questions. Now we are enjoying all her progress and the new extended family of friends who have adopted and taken care of us. GOOD LUCK and if you ever have questions would be my pleasure Esther mom to Jasmine soon to be 16 with JS

Anonymous said...

How much more precious her achievements will be for your family! I read hope in your posting, and I will keep hope in all my thoughts for my little Leap sister. The Lord surely has great faith in your family to have blessed you with the opportunity to help Haley through this challenge. Hugs! Juanita

Kimberly said...

Laura: I went back to the beginning of your blog to see the progression of your "JS Journey". I feel so a comaderie with you already. I loved this post in particular because you summed up everything I feel for my daughter. Mums of 'special needs' children need to stick together as we are a wonderful source of support. I really am excited about our friendship! You are an amazing Mum and Haley is a gorgeous, sweet, and funny girl. I can't wait to meet you all in person!