The elephant on the blog and our amazing conference

I started this blog a while ago to keep in touch with our friends and family. And although I haven't been super-consistent with my postings, I know that everyone has enjoyed the pictures of our beautiful kids. I have felt for awhile that there is a big elephant on the blog though. I big topic that has been much avoided. And while most of our readers know about these big issues, the elephant's name has never been told... until now.

Austin has Joubert syndrome. Here is a 'brief' description of JS from the foundation's website (and I have noted the issues that Austin either does have or has had in the past:

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.
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. Austin has this...
  
• Developmental delays/mental retardation—variable severity. Austin has this...
  
• Difficulty coordinating voluntary muscle movements; uncoordinated movements (ataxia). And this...
  
• Decreased muscle tone (hypotonia). And this too!
  

The following features are often present:

• Facial features may be abnormal in appearance (eyes far set from each other, small ear lobes, broad forehead, arched eyebrows, broad mouth).
• 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. He has outgrown most of this but still looks out of the sides of his eyes.
  
• Abnormal breathing pattern with episodes of rapid breathing or panting (hyperpnea), which may be followed by pauses in breathing (apnea).
• Abnormal collections of cerebrospinal fluid in the posterior fossa that may resemble Dandy-Walker malformation.
  
• Difficulty processing and reacting to information received through their five senses.

While less common, the following features may also be present in some individuals and may be useful to define a JSRD. Many of these features are not present at birth:

• Rapid, involuntary movements of the eyes (nystagmus). Outgrown!
  
• Severe visual impairment, or Leber congenital amaurosis
• Retinal dystrophy, particularly increased pigmentation of the retina or flattened electroretinogram (ERG).
• A malformation of the retina or other regions of the eye (coloboma)
• Renal insufficiency, particularly juvenile nephronophthisis or cystic dysplastic kidneys.
• Abnormalities of the liver, including hepatic fibrosis.
• Extra fingers and/or toes (polydactyly).
• Extra strands of tissue between the gums, tongue, and mouth (oral frenulae) or nodules on the tongue.
• Other conditions not listed here may also be observed

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. Austin does have developmental delays and tends to meet his milestones on his own time. The average age of sitting with JS is 18 months- Austin achieved this at 17 months. The average age of walking is 4 years... and Austin is really close now!

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. That's our life! 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. Mild to moderate mental retardation is typical, but 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. Yep, sounds about right!! He has a developmental pediatrician as well. Screening for some of the complications associated with Joubert syndrome-related disorders, such as liver, retinal, or kidney involvement that may become progressive over time, is recommended on an annual basis. Austin has yearly abdominal ultrasounds and lab work to check kidney and liver function.
Inheritance and recurrence: Joubert syndrome is passed down from parents to offspring as an autosomal recessive trait, which means that both parents have one altered copy of the gene(s) responsible for this disorder in their DNA. (In order for a child to be born with JS, both the egg and the sperm must contain the same altered gene in question). The odds of having a child born with Joubert syndrome to parents who carry the altered gene involved are 1 in 4, or 25%, in each pregnancy that they share.

WHEW!! That was a lot!!! All in all, Austin is a healthy, happy little guy. He has therapy five times a week (OT, PT twice, Speech and developmental) and therpeutic horseback riding once a week. He loves his therapists and they have become like family to us. All of his labs and ultrasounds have come back normal thus far. We see most of his specialists every six to twelve months. We also have a dietician who comes out once a month for weight checks. He has had weight gain troubles and at one point in time was declared "failure to thrive". We have added lots of different calories to his food and milk but recently were able to stop some of this. He has gained almost 2 pounds in the past 2 months and is at 27 pounds 1 ounce as of this morning. When he turns three in November, Austin will start developmental preschool at Stony Creek elementary, the same school where Cady starts kindergarten in three weeks. He will go three hours a day, four days a week. He will get most of his therapies at school but will most likely need outside physical therapy and speech. He will also continue therapeutic riding as we have seen major improvements with his muscle tone and control since he started this three months ago. He loves Cady, music, dancing and Mickey Mouse. His favorite toys are balls, cars and trains... what a BOY! He has never crawled but side-scoots wherever he needs to go. In the past month, he has started walking with his walker or holding our hands and is so proud of himself!!! And he is the happiest, sweetest little man you have ever met!!

So.... this past week, Grandma, Austin and I headed to Cincinnati for the biannual Joubert conference. We had enough stuff packed for an entire circus!! It was a really neat and awesome experience. We met lots of families and other kids with JS... families that have experienced much of the same as us and many with much more significant problems than Austin. It was amazing the sense of 'family' we all shared. Everything was about 'our kids' and 'our families'. We met with specialists and learned alot about complications from JS and new research findings and studies. We asked questions about communication, behavior issues and therapies. We were even able to donate blood for genetic research. We went swimming, walking and shopping. And we made some new friends, young and old! Here are some of my favorite pics from our trip to Cincinnati!

At the pool, Austin loved splashing...
A little too much... we were both soaking wet so he had a little dip in the pool with his clothes on. And he couldn't have been happier!
He was all over Grandma during the trip. He loved cuddling with her in bed, reading books and playing BALL!
So bright!!!
One evening, we watched clowns and waited not-so-patiently for our green dog balloon.
In awe at the clown... Ben in the background.
This time, we decided to actually were our swim suits and play ball!!
Here is Dr. Ian Glass, one of our favorite specialists! He is just 'good people'.
We played with friends in the hallway of the hotel. The girls are Leesa and Ivy, three year old surviving triplets. Their eight month old brother Reid has JS.
More fun with Grandma!
Oh and guess who else came along for the ride!! Cady's baby of course!
There was a playroom set up for all the kids. This is Austin's friend Ben. He is almost two and cute as a bug!! He does not have JS. His brother Joey passed away ten years ago at the age of six due to complications from JS. His parents are amazing people with so much love and knowledge to share!
The last night, we had a big gala with a silent auction to raise money for the foundation. Austin danced around the room with Grandma, wearing Mommy's stolen headband.
Kimberlee and Matilda (Tilly) 10 months old JS, Knoxville TN
Daddy, Mommy and Kiley two and a half years JS, Canada. They were our regular meal-family.
Reverend Ben Keckler and his wife Cheryl, Indianapolis. Rev Keckler works as a chaplain at Hendricks Regional hospital on the west side. His niece is 36 years old with JS. Jodi can walk, talk, read and is very sweet!
We tried to take a big group picture of all the kids. It was quite an interesting sight. At least Austin was happy!
Derek, 8 years old JS. His mom Kelly is a really neat person. Austin reminds her a lot of Derek when he was younger. Derek is a big comedian, walking, talking and making people laugh!
Austin doing the YMCA with Grandma. What a party animal!
Nathaniel, three years old JS
Kelly, Will JS, and Derek JS
Reid, eight months old JS, brother of the surviving triplet girls. He has a feeding tube, oxygen for breathing issues, amazing eyelashes and a super-sweet mom!
When Austin got cranky, he loved to explore and scoot around in the lobby with his El. The night we left, he thought he wanted to play hide and seek... by trying to sneak onto the elevators everytime they opened.
Papaw Doug and Hanna

The conference was an absolutely amazing experience for all of us. One of the best things we learned was this: to have peace with uncertainty. Peace with not knowing when Austin will walk. Peace with not knowing what complications may arise. Peace with not knowing what his future holds. Peace with our amazing little boy. We have new friends that we will have for a lifetime, who we cannot wait to see again. The next conference will be in the summer of 2011 in Orlando Florida and we are already making plans to attend.

So now that you know our elephant's name, I hope you are not all totally overwhelmed. I hope that all our readers can find the same peace that we have found!