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Team Karison - Owning Joubert Syndrome

Karison was born a healthy, happy baby girl on August 16, 2014. When she was a few months old, I began noticing what I can only describe as weird breathing. She had a tendency to breathe very fast at times and not breathe at all at other times. I would stay awake to watch her sleep. As she grew a few months older, it was becoming apparent that there was more going on. She wouldn't bear weight on her legs, couldn't roll, and wasn't beginning to sit up. I really began pushing for answers but didn't get much support from her medical professionals at the time. I finally sought out a doctor who would listen, care and take action. I found one.

At nine months old, Karison began Occupational and Speech therapy. She finally had an appointment with a neurologist, and she finally had a sleep study ordered. In her short nine months, she had already gone through dozens of blood tests and genetic testing. She has been poked, prodded and tested all of her life. She has already been through more than most adults ever will. She has handled it all with a cordial demeanor and sweet little smile that most adults couldn't muster under the same circumstances. She truly amazes me.

Her first sleep study in Atlanta showed severe sleep apnea. I can't describe the overwhelming relief I felt knowing that the doctors finally realized what I was trying to tell them and that she was going to be seen about properly! Her surgeon ordered an urgent adenoidectomy, which only helped a little as her apneas are primarily central. But finally, we were on the right track. She was sent home with a heart and breathing monitor and oxygen. The comfort in knowing that you can lay your child down to sleep and not come back to find they've stopped breathing is indescribable.

Next was the MRI that had been put on hold due to the apnea. On August 21, Karison was sedated once again. She had an allergic reaction to the contrast, and what we thought was to be an outpatient procedure ended up in with being admitted to Egleston Hospital. We were not expecting to have results of the MRI until the following week at an appointment with her neurologist.

Making rounds, the floor doctor comes in and says "Has anyone ever mentioned that your daughter might have Joubert Sydrome?"

UMMM. NO. WHAT IS JOUBERT SYNDROME? WHAT DOES THAT MEAN? ARE YOU SAYING SHE HAS IT? ARE YOU SAYING SHE "MIGHT"? WHAT ARE THE SYPMTOMS? WHAT IS THE PROGNOSIS???

He handed me a Wikipedia print out and left the room.

In that moment, everything changes. Racing thoughts of her future, her health, trying to understand this diagnosis. I mean really... who has ever heard of Joubert Syndrome? I certainly hadn't and I had been investigating her symptoms for six months. So there it is. On one hand you are beyond thankful to have answers, on the other hand you are literally scared to death to learn about the syndrome and diagnosis.

I have spent the last three months learning all I can about Joubert Sydrome, arranging dozens of appointments with all of the specialists, and reaching out to a few families in the United States who have traveled this road before us. Karison will need lifelong care. A description of Jouberts:

Joubert Sydrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis - an area of the brain that controls balance and coordination - as well as a malformed brain stem (molar tooth sign). The most common features of Joubert Syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tome (hypotonia), abnormal eye movements, impaired intellectual development, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities may be present, such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities. Kidney and liver abnormalities can develop, and seizures may also occur.

Karison works harder than any child I've ever seen at literally everything she does. The biggest challenge right now is the wide range of severity of symptoms with Jouberts. There are NO knowns. If or when she will walk/crawl/talk/potty train/read/write/etc, etc, etc..... If or when she may develop kidney or liver involvement or failure/seizures/blindness/etc, etc, etc... Only around 700 families in the United States have identified themselves with the Joubert Syndrome Foundation as having a child with JS. So far, I have only found two other families in the state of Georgia.

To date there have been as many as 30 different gene mutations identified to cause JS. It is not guaranteed that scientists will find Karison's exact causative gene, but there is a possibility of correlating symptoms from other JS children if they do. In other words, some gene variants are more likely to involve eye problems. Some variants are more likely to involve kidney and liver failure, and so on. They have found a gene that they suspect may be the cause, but we now require even more blood tests and waiting. It takes months to test each variant and is very costly. If the gene they have found is in fact Karison's genetic cause, it does involved a higher rate of kidney and liver involvement, hydrocephalus and seizures.

We have regular appointments with all of her doctors, most of whom are in Atlanta: Neurologist, Pulmonologist, ENT, Geneticist, Eye Surgean, regular opthamologist, Neuro-Opthamologist, Mobility Clinic, Pediatrician, and Speech and Occupation Therapy. Only a few of these specialists have ever heard of Joubert Syndrome. Not one of them has ever treated a patient with it. Karison has also been invited to take part in a research study with the University of Washington in Seattle.

We have managed Karison's medical care for these last 15 months even with all of the trips, hotels and expenses. I am starting this page to 1. Formally introduce my sweet girl to the world, exactly as she is, perfect in every way. 2. To increase awareness for Joubert Syndrome. Donations can be made for JS research through the Joubert Sydrome and Related Disorders Foundation online. 3. Begin fund raising for Karison's future medical needs. She has had seven different appointments in Atlanta in November and December alone. 4. Begin fund raising so that we can attend the next Joubert Syndrome conference (the last one was held in Chicago). It will be our chance to meet other families with this very rare diagnoses and learn from leading doctors and scientist in the field. As these specialists are paid to present, the costs for attending can really add up.

As any parent will understand, I cannot, WILL NOT wait until Karison is in a medically urgent situation to begin fund raising efforts. The reality is that she will need very involved care and testing all of her life. She needs weekly therapy appointments, at minimum. She would benefit from other therapies that are not covered at all. She needs a walker and gait trainer. She may, at some point, need a wheelchair. If she does, that will include the need for home and vehicle wheelchair accommodations. She has to have tests on her eyes, kidney, liver and brain several times a year. It has beyond hard to think about these things right now, but I have to, for her. I read posts every single day from Joubert families who are dealing with inadequate equipment, failing kidneys or other medical emergencies or denied therapies. It is heartbreaking. But the absolute worst days are when the Joubert community loses one of its angels, as we did last month. Please remember these families in your prayers.

This journey was unexpected to say the least, but I could not be more proud of my girl and all that she has accomplished. I am beyond grateful that I was chosen and trusted to be mom to our "very rare" baby. Thank God for choosing me for this battle and for giving Karison the strength, determination, and positive attitude to overcome her challenges. We will move mountains to make sure this girl succeeds in LIFE. We are OWNING JOUBERTS! Thank you all for your prayers and support.

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