As I sit here google-ing, trying to figure out what to expect for our appointment with the geneticist tomorrow, over and over I run into the definition (if you can call it that) of Joubert's Syndrome. Even though, I've read this 9 million times in the past two months, I still don't feel like I fully understand what it is, what to expect, where it comes from or what causes it, what it means for Leyla's future, I could go on and on. All of that said, it made me realize that if I don't fully understand and I've been to all of the doctor appointments and read all of the reports; surely, you all can't completely understand. So, I've taken the "definition" from the Joubert Foundation's website and I've posted it below.
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.
Okay, I hope that helps a little bit...or maybe it just made it even harder to understand! Basically, the bridge that connects the two halves of the brain is either underdeveloped or non-existant (underdeveloped in Leyla's case) so the two halves are not able to communicate with each other causing Leyla's low toned muscles, balance and coordination problems, and it's why she doesn't crawl, roll over, and hasn't begun to walk.
Whew, that's all for today! Enjoy the beautiful night!
Jenni
