Jack's Medical Fund
Donation protected
Jack Slaybaugh is our amazing 14 month old child with Joubert Syndrome. Joubert Syndrome is a rare genetic disorder characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing patterns and intellectual disability. Individuals with JS often have retinal, kidney and/or liver diseases requiring medical intervention. There are only about 1,000 diagnosed cases of Joubert Syndrome in the world. The only “treatment” for Joubert Syndrome is therapy, therapy, and more therapy. We have weekly physical therapy, weekly occupational therapy, speech therapy at least twice a month, horse riding therapy, and have tried alternative therapies known as the Anat Baniel method and CranioSacral therapy. We have also used swimming lessons to help strengthen him. We setup this fund to help pay for Jack’s medical bills. Unfortunately, our insurance only covers 50 therapy visits a year and Jack requires nearly triple this amount. As you can imagine, these therapy visits are quite pricey when not covered by insurance. We are also hopeful that this fund grows enough so we can help support the Joubert Syndrome & Related Disorders Foundation (jsrdf.org). This foundation is still so small they cannot help fund research. It is our hope this changes as they get more funding. A more detailed explanation of our personal story is below for those interested. Thank you for visiting our page!
When Jack was a few months old, we started to notice that he was unable to push himself up while on his tummy and having some abnormal eye movements. We underwent a brain ultrasound to check for any extra fluid surrounding his brain, and everything looked fine. These issues persisted and our pediatrician referred us to an ophthalmologist who then referred us to neurology, which led us to having an MRI completed. On September 19, 2016, Jack went under general anesthesia for his MRI and he did great but we had to stay in the hospital overnight for monitoring due to his age. A doctor came into our room that night and read Jack’s imaging report. She told us she didn’t know what the words on the report meant, but as a mother herself, she knew we needed to know, and she was going to google the findings on the report. When looking up the findings, we found a lot of reports that said what was seen on Jack’s MRI often times lead to some behavioral issues and possible learning delays. While this wasn’t the news we wanted to hear, it was better than other results we had feared such as a tumor. We were discharged the next morning and were just trying to recuperate after a night of absolutely no sleep when our neurologist called. She said she needed to meet with us the next day to go over his findings. All she said would tell us over the phone was that she believed Jack had a rare genetic syndrome and she would go over everything in person.
On September 21, 2016 we went to the neurologist unsure of what was ahead for us. She pulled up his imaging and pointed out that there appeared to be a “molar tooth sign” where his cerebellum is. She pointed out that his vermis (a worm-like structure that connects the two hemispheres of the cerebellum) was also hypoplastic (smaller than it should be) and dysmorphic (not the correct shape). That’s when she said she believed he had Joubert Syndrome. This is an extremely rare finding and the radiologist reading Jack’s MRI didn’t even catch it. But when the neurologist saw it she noticed it right away. We had obviously never heard of Joubert Syndrome and she went on to explain what this meant. She told us Jack wouldn’t reach any milestones, he wouldn’t be independent, and he wouldn’t sit, walk, or talk. We were told he would likely be mentally handicapped and she believed, with his specific findings, there would be liver involvement. She basically crushed our parental dreams in a quick hours visit. The possibility of our son running around with other kids, playing sports, or even walking was taken away from us. We didn’t know any better and kind of just sat there in shock, trying to think of questions and trying to put everything together. I remember leaving there in a kind of fog and had no idea what to expect for our future or what we could do to change the outcome.
Coming home was sad and extremely emotional, we left our house thinking we had a pretty healthy baby who would participate in normal childhood activities and those thoughts were shattered. We started googling Joubert Syndrome and what we found did not sound good. We then decided to look for other parents whose children have this syndrome and luckily for us, there are Facebook groups for everything. We found a group called “JS Parents”, and the members are parents and family members of those who are affected by Joubert Syndrome. We posted our story on the group page and we got an overwhelming abundance of support and encouragement from people we didn’t even know, but people we were now connected with through our syndrome. We received pictures of thriving children, positive stories, and nothing but encouragement and a welcoming environment from these complete strangers. After going through all these pictures and posts, it dawned on us that what this neurologist failed to mention is that there is hope for Jack. There are a lot of children who walk, who talk (both verbally and through sign language), and those who participate in normal daily activities. They may take a little longer to do so and may need some adaptive equipment, but the possibility of independence is real and it is documented by these parents who have children with Joubert Syndrome. There are many children who need a little extra help in school, but they are able to attend the same classes that their typically developing peers attend. This was the most helpful thing we could have found in such a dark time and it allowed us to see that a positive future could be in store for Jack.
Joubert Syndrome is an autosomal recessive disorder so seeing a geneticist was our next step to identify our causative gene. Through our genetic testing, we were fortunate enough to find Jack’s mutated gene. We say fortunate because there are many families who have no idea what their causative gene is since there are only certain mutations confirmed by research that are proven to cause this syndrome. Knowing the causative gene can provide an indicator for any possible organ involvement that may need monitoring as well. Jack’s mutated gene is TMEM67. With this gene mutation, Jack is classified into an even more rare class with a diagnosis of COACH Syndrome, which is considered a related disorder that falls under the Joubert Syndrome spectrum. There are only 26 cases documented in scientific and medical research regarding this syndrome and this genetic mutation, so we don’t have a whole lot of information to pick through. What the small amount of literature has told us, is that we have a higher likelihood of liver fibrosis and possible kidney disease. What happened when Jack was in utero is that his bile ducts were likely formed incorrectly which can lead to problems in the liver, including scar tissue buildup (fibrosis) and portal hypertension. Eventually we will want an MRI to closely examine his bile ducts, but that isn’t a pressing matter at this time. We will have twice yearly abdominal ultrasounds to monitor his liver, kidney, and spleen size as well as keep track of his liver and kidney function through blood tests. Joubert Syndrome also affects the brainstem, which controls breathing. Many JS kids have central apnea because of this, and this means that the brain doesn’t tell the body to breathe. After 2 sleep studies, we found out Jack does have central apnea at night time. We have oxygen at home in case we need it but we monitor his oxygen saturation level and heart rate using a medical monitor at night. So far he has been a rock star and has not needed any oxygen. The good thing is there is a possibility he will outgrow this apnea as he ages. We have about every specialist on board that you can imagine to help us catch any abnormalities in any organ. There are interventions that can be done should something start to go awry with his liver or kidneys, but as for his initial testing everything looked great and we will continue to monitor and hope that this keeps up.
This diagnosis turned our world upside down, and we now have very busy schedules. Jack has hypotonia (low muscle tone), balance issues from his cerebellum involvement, and oculomotor apraxia (abnormal eye movements). The only treatment for Joubert Syndrome is therapy, therapy, and more therapy. We have physical therapy weekly, occupational therapy twice a month at home and twice a month at the clinic, speech therapy at least twice a month, horse riding therapy, and alternative therapies known as the Anat Baniel method and craniosacral therapy. We have also used swimming lessons to help strengthen him. Only around 1,000 people are currently diagnosed with Joubert Syndrome. Since this is an autosomal recessive genetic condition each future pregnancy has a 25% chance that we have another Joubert affected child, a 50% chance that we have a child who is a carrier of Joubert with no symptoms of the syndrome (like Jes and myself), and a 25% chance that the child will not be a carrier or be affected. Since we have found our causative, and thanks to modern medicine, we do have options to ensure that our future children are not affected by this.
One of the best things about this situation at this time is that Jack is still our same Jack that we’ve had since May 20, 2016. He’s still our happy, giggly little boy who loves to eat, watch his puppy, and have his belly tickled by mom and dad. He smiles ALL the time (unless he’s teething or hungry…..) and is just an overall an extremely happy little dude. While our vision of what we thought our family would be like has changed, we’ve been adapting and will continue to adapt to make sure Jack is happy. We started out our roles as mom and dad, but we are also now also his therapists, advocates, and cheerleaders. We incorporate his therapy into everything we do, which is easy to do at this age since he sees it all as play time. We advocate for him to every doctor and specialist we see to ensure that he is receiving the best care. We are also the ones who scream loud cheers and cry happy tears when he accomplishes a new task that we’ve worked on for months. When you’re told the worst about your baby, you need something hopeful to hold onto, and Jack is giving us hope every day. He’s accomplishing milestones specialists told us he never would and we know, and he knows, his potential is sky high. What we need now is love, support, and good thoughts from our loved ones as we tackle this unknown journey and celebrate every inch of progress that Jack makes.
Love,
Jes, Lindsey, and Jack
When Jack was a few months old, we started to notice that he was unable to push himself up while on his tummy and having some abnormal eye movements. We underwent a brain ultrasound to check for any extra fluid surrounding his brain, and everything looked fine. These issues persisted and our pediatrician referred us to an ophthalmologist who then referred us to neurology, which led us to having an MRI completed. On September 19, 2016, Jack went under general anesthesia for his MRI and he did great but we had to stay in the hospital overnight for monitoring due to his age. A doctor came into our room that night and read Jack’s imaging report. She told us she didn’t know what the words on the report meant, but as a mother herself, she knew we needed to know, and she was going to google the findings on the report. When looking up the findings, we found a lot of reports that said what was seen on Jack’s MRI often times lead to some behavioral issues and possible learning delays. While this wasn’t the news we wanted to hear, it was better than other results we had feared such as a tumor. We were discharged the next morning and were just trying to recuperate after a night of absolutely no sleep when our neurologist called. She said she needed to meet with us the next day to go over his findings. All she said would tell us over the phone was that she believed Jack had a rare genetic syndrome and she would go over everything in person.
On September 21, 2016 we went to the neurologist unsure of what was ahead for us. She pulled up his imaging and pointed out that there appeared to be a “molar tooth sign” where his cerebellum is. She pointed out that his vermis (a worm-like structure that connects the two hemispheres of the cerebellum) was also hypoplastic (smaller than it should be) and dysmorphic (not the correct shape). That’s when she said she believed he had Joubert Syndrome. This is an extremely rare finding and the radiologist reading Jack’s MRI didn’t even catch it. But when the neurologist saw it she noticed it right away. We had obviously never heard of Joubert Syndrome and she went on to explain what this meant. She told us Jack wouldn’t reach any milestones, he wouldn’t be independent, and he wouldn’t sit, walk, or talk. We were told he would likely be mentally handicapped and she believed, with his specific findings, there would be liver involvement. She basically crushed our parental dreams in a quick hours visit. The possibility of our son running around with other kids, playing sports, or even walking was taken away from us. We didn’t know any better and kind of just sat there in shock, trying to think of questions and trying to put everything together. I remember leaving there in a kind of fog and had no idea what to expect for our future or what we could do to change the outcome.
Coming home was sad and extremely emotional, we left our house thinking we had a pretty healthy baby who would participate in normal childhood activities and those thoughts were shattered. We started googling Joubert Syndrome and what we found did not sound good. We then decided to look for other parents whose children have this syndrome and luckily for us, there are Facebook groups for everything. We found a group called “JS Parents”, and the members are parents and family members of those who are affected by Joubert Syndrome. We posted our story on the group page and we got an overwhelming abundance of support and encouragement from people we didn’t even know, but people we were now connected with through our syndrome. We received pictures of thriving children, positive stories, and nothing but encouragement and a welcoming environment from these complete strangers. After going through all these pictures and posts, it dawned on us that what this neurologist failed to mention is that there is hope for Jack. There are a lot of children who walk, who talk (both verbally and through sign language), and those who participate in normal daily activities. They may take a little longer to do so and may need some adaptive equipment, but the possibility of independence is real and it is documented by these parents who have children with Joubert Syndrome. There are many children who need a little extra help in school, but they are able to attend the same classes that their typically developing peers attend. This was the most helpful thing we could have found in such a dark time and it allowed us to see that a positive future could be in store for Jack.
Joubert Syndrome is an autosomal recessive disorder so seeing a geneticist was our next step to identify our causative gene. Through our genetic testing, we were fortunate enough to find Jack’s mutated gene. We say fortunate because there are many families who have no idea what their causative gene is since there are only certain mutations confirmed by research that are proven to cause this syndrome. Knowing the causative gene can provide an indicator for any possible organ involvement that may need monitoring as well. Jack’s mutated gene is TMEM67. With this gene mutation, Jack is classified into an even more rare class with a diagnosis of COACH Syndrome, which is considered a related disorder that falls under the Joubert Syndrome spectrum. There are only 26 cases documented in scientific and medical research regarding this syndrome and this genetic mutation, so we don’t have a whole lot of information to pick through. What the small amount of literature has told us, is that we have a higher likelihood of liver fibrosis and possible kidney disease. What happened when Jack was in utero is that his bile ducts were likely formed incorrectly which can lead to problems in the liver, including scar tissue buildup (fibrosis) and portal hypertension. Eventually we will want an MRI to closely examine his bile ducts, but that isn’t a pressing matter at this time. We will have twice yearly abdominal ultrasounds to monitor his liver, kidney, and spleen size as well as keep track of his liver and kidney function through blood tests. Joubert Syndrome also affects the brainstem, which controls breathing. Many JS kids have central apnea because of this, and this means that the brain doesn’t tell the body to breathe. After 2 sleep studies, we found out Jack does have central apnea at night time. We have oxygen at home in case we need it but we monitor his oxygen saturation level and heart rate using a medical monitor at night. So far he has been a rock star and has not needed any oxygen. The good thing is there is a possibility he will outgrow this apnea as he ages. We have about every specialist on board that you can imagine to help us catch any abnormalities in any organ. There are interventions that can be done should something start to go awry with his liver or kidneys, but as for his initial testing everything looked great and we will continue to monitor and hope that this keeps up.
This diagnosis turned our world upside down, and we now have very busy schedules. Jack has hypotonia (low muscle tone), balance issues from his cerebellum involvement, and oculomotor apraxia (abnormal eye movements). The only treatment for Joubert Syndrome is therapy, therapy, and more therapy. We have physical therapy weekly, occupational therapy twice a month at home and twice a month at the clinic, speech therapy at least twice a month, horse riding therapy, and alternative therapies known as the Anat Baniel method and craniosacral therapy. We have also used swimming lessons to help strengthen him. Only around 1,000 people are currently diagnosed with Joubert Syndrome. Since this is an autosomal recessive genetic condition each future pregnancy has a 25% chance that we have another Joubert affected child, a 50% chance that we have a child who is a carrier of Joubert with no symptoms of the syndrome (like Jes and myself), and a 25% chance that the child will not be a carrier or be affected. Since we have found our causative, and thanks to modern medicine, we do have options to ensure that our future children are not affected by this.
One of the best things about this situation at this time is that Jack is still our same Jack that we’ve had since May 20, 2016. He’s still our happy, giggly little boy who loves to eat, watch his puppy, and have his belly tickled by mom and dad. He smiles ALL the time (unless he’s teething or hungry…..) and is just an overall an extremely happy little dude. While our vision of what we thought our family would be like has changed, we’ve been adapting and will continue to adapt to make sure Jack is happy. We started out our roles as mom and dad, but we are also now also his therapists, advocates, and cheerleaders. We incorporate his therapy into everything we do, which is easy to do at this age since he sees it all as play time. We advocate for him to every doctor and specialist we see to ensure that he is receiving the best care. We are also the ones who scream loud cheers and cry happy tears when he accomplishes a new task that we’ve worked on for months. When you’re told the worst about your baby, you need something hopeful to hold onto, and Jack is giving us hope every day. He’s accomplishing milestones specialists told us he never would and we know, and he knows, his potential is sky high. What we need now is love, support, and good thoughts from our loved ones as we tackle this unknown journey and celebrate every inch of progress that Jack makes.
Love,
Jes, Lindsey, and Jack
Organizer
Jes Slaybaugh
Organizer
Dublin, OH