KatieLynn's journey with Joubert Syndrome
Donation protected
Our hearts go out to Leslie and Kyle as their first baby girl, KatieLynn born on 8.31.2020, was recently diagnosed with Joubert Syndrome, this is a rare genetic disease that effects 1 out of 100,000 infants.
KatieLynn has a team of 7 different doctors at UNC helping support, monitor and decided on the next steps with diagnose and supportive treatments, that being said this means a large amount of doctor’s appointment, therapy and other supportive appointments Leslie and Kyle will be down to one income, missing work, and travel to different specialist in and outside of NC, as well as all the medical expenses.
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis and is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. Many of the clinical symptoms of Joubert syndrome are apparent in infancy and most affected children have delays in gross motor milestones. Joubert syndrome is a very variable condition and the full spectrum of symptoms has not yet been determined due to the rarity of this genetic disease, sadly there is no cure for Joubert syndrome. Dandy-Walker malformation is a rare malformation of the brain that is present at birth (congenital). It is characterized by an abnormally enlarged space at the back of the brain (cystic 4th ventricle) that interferes with the normal flow of cerebrospinal fluid through the openings between the ventricle and other parts of the brain. Excessive amounts of fluid accumulate around the brain and cause abnormally high pressure within the skull, swelling of the head (congenital hydrocephalus), and neurological impairment. Motor delays and learning problems may also occur. Dandy-Walker malformation is a form of obstructive or internal non-communicating hydrocephalus, meaning that the normal flow of cerebrospinal fluid is blocked resulting in the widening of the ventricles.
Every little bit will help support Leslie and Kyle as they start this journey; helping them put their focus on KatieLynn.
Keep this family in your thoughts and prayers.
Nehemiah 8:10. "Do not grieve, for the joy of the Lord is your strength."
KatieLynn has a team of 7 different doctors at UNC helping support, monitor and decided on the next steps with diagnose and supportive treatments, that being said this means a large amount of doctor’s appointment, therapy and other supportive appointments Leslie and Kyle will be down to one income, missing work, and travel to different specialist in and outside of NC, as well as all the medical expenses.
Joubert syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis and is an autosomal recessive genetic disorder that affects the area of the brain that controls balance and coordination. Many of the clinical symptoms of Joubert syndrome are apparent in infancy and most affected children have delays in gross motor milestones. Joubert syndrome is a very variable condition and the full spectrum of symptoms has not yet been determined due to the rarity of this genetic disease, sadly there is no cure for Joubert syndrome. Dandy-Walker malformation is a rare malformation of the brain that is present at birth (congenital). It is characterized by an abnormally enlarged space at the back of the brain (cystic 4th ventricle) that interferes with the normal flow of cerebrospinal fluid through the openings between the ventricle and other parts of the brain. Excessive amounts of fluid accumulate around the brain and cause abnormally high pressure within the skull, swelling of the head (congenital hydrocephalus), and neurological impairment. Motor delays and learning problems may also occur. Dandy-Walker malformation is a form of obstructive or internal non-communicating hydrocephalus, meaning that the normal flow of cerebrospinal fluid is blocked resulting in the widening of the ventricles.
Every little bit will help support Leslie and Kyle as they start this journey; helping them put their focus on KatieLynn.
Keep this family in your thoughts and prayers.
Nehemiah 8:10. "Do not grieve, for the joy of the Lord is your strength."
Organizer and beneficiary
Becca Allen
Organizer
Mebane, NC
Leslie Breezy Pesce
Beneficiary