Found this video of Matilda that I made while she was still in the NICU. You can hear the "panting" breathing that is typical of those with Joubert Syndrome.
To continue our journey.. Matilda was released from the hospital after recovering from the fundoplication and g-tube placement surgeries. We were lucky that immediately we were plugged into home health services from Children's Hospital. We received weekly visits from a physical therapist and a speech therapist which helped me teach Matilda how to take a bottle.
Tilly suffered from colic when she first came home. For those of you unfamiliar with colic, it's the most baffling thing ever! It was like a light switch was flipped on and like, clockwork, at 11:30 p.m., Tilly starting crying. There was nothing that comforted her until the switch went off as mysteriously as it came at 3:45 a.m. Fortunately, she seemed to be "cured" in a few weeks.
We embarked upon a number of doctor's appointments including to a neurologist and an eye doctor. The eye doctor was fairly fatalistic stating that he wasn't sure Tilly saw anything. We disagreed because Tilly always struggled to see - throwing her head back and lifting her eyebrows so that her droopy eyelids would clear her pupil (a condition we later learned is called ptosis). I concluded that if she was receiving no input, she wouldn't try so hard. The doctor did not recommend any treatment at this time but just to "wait and see". (This was not the first time I would disagree with a doctor! Mother's DO often know best!!)
The neurologist concured with us that Tilly didn't have "true seizures" but exhibited some behaviors that the nurses misinterpreted as seizure-like activity. She exhibited a temporary facial palsy which made her appear to cry only on one side of her face while the other was perfectly unaffected. (When I first observed this, I was afraid she had experienced a stroke but soon dismissed this as she was able to move other extremities on that side of her body. This palsy has since cleared and she has never done this since). The neuorologist told us we could wean her off the phenobarbitol slowly. Matilda began to actually experience her world and interact with it now that she wasn't in a medicine fog!
Soon, she was released from home health and was able to participate in outpatient therapy services at East Tennessee Children's Rehab Center. The staff, therapists, etc. are fantastic and have become members of the family.
At around six months, I took Matilda to her routine well baby check up. Her pediatrician (whom I adore!) was the first to mention Joubert Syndrome to me. She had been doing some research on her own time and thought the syndrome's characteristics sounded a lot like Matilda's. I immediately went to the website she recommended and as I read through the list, it was as if they knew my Matilda. I could literally, check through the list - "yep!", "has that", "does that".
From the Joubert Syndrome Related Disorders Foundation website:
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.
(more on this later)
Difficulty coordinating voluntary muscle movements; uncoordinated movements (ataxia).
Decreased muscle tone (hypotonia).
Facial features may be abnormal in appearance (eyes far set from each other, small ear lobes, broad forehead, arched eyebrows, broad mouth).
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 (sensory integration disorder).
After reading this information, I was convinced that a diagnosis of Joubert Syndrome was more accurate than the generic Dandy Walker Syndrome. I knew that a MRI would be the key to clearing up any questions...
Next time: Fighting for a Diagnosis - the battle begins!