Lilly. A life with Joubert Syndrome
Donation protected
Hello we are Angel and Matthew. We are the proud parents of five beautiful children ranging in age from seven years to almost one year old. We are happy and blessed with our life and family. We have set up this page for our one year old little girl Lillian and the changes that our family will have to make.
Lillian was a full term, normal pregnancy and delivery however it did not take us long as parents to realize something was not right with our new beautiful baby girl. At only ten days old she was moved too Mc Master Children’s Hospital 70km out of town, because she had problems breathing and although she was eating she had also lost 2lbs of her total body weight.
Over the course of the next nine and a haft months we have been back and forth from our home to Hamilton some times daily visits a few times a week and extended stays for mommy and baby being admitted to hospital on 3 separate occasions during a stay at the hospital for numerous testing including eeg, ecg, chromosome and genetic blood tests x-rays a swallow study and MRI finally last week we got an answer.
Lillian has a “rare” genetic disorder called Joubert syndrome which effects only between 1/80,000 boys and 1/100,000 girls in live births.
Joubert syndrome is characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. It is one of a growing group of disorders called "ciliopathies," caused by dysfunction of a part of the cell called the cilium. Disruption of cilium function likely explains the incidence of eye, kidney and liver problems in individuals with Joubert syndrome.
Individuals diagnosed with JS 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. Delay in gross motor, fine motor and speech development is seen in almost all individuals with JS. Delays can be due to low muscle tone and impaired arm, leg, eye and mouth coordination. Children have also been noted to have visual impairment due to abnormal eye movements. Developmental delays are usually treated with physical therapy, occupational therapy, speech therapy, and infant stimulation. Most children diagnosed with JS are able to achieve standard milestones, although often at a much later age.
We have started this page to help raise money for this unexpected medical needs, overnight hospital stays, home care assistance for other children when we need to be away from home, and hoping to attend a 5 day conference held in phenoex USA mid 2017 for joubert syndrome, it is held only once every 2 years this opportunity would give us the ability to meet doctors who specialize in genetics and joubert syndrome as well as other families who share our story.
We have had help from other organizations, aiding in the purchase of feeding pump, pediatric wheelchair ect.. we have been told that we will need more specialized medical/feeding equipment for her such as chair and specialised car seat. Lillian has a specialized diet with a formula costing $160 for a small 400g can, currently lasting her about 3 days thankfully this has been cover at this time! Supplies for her feeding tube/pump, cleaning and care equipment. We soon will be needing renovations to our home to support Lillian’s mobility as well as our transporting equipment and space management.
As Lillian grows she will need yearly tests done on liver and kidneys, weekly physical therapy sessions at minimum, occupational therapy, speech therapy, and infant stimulation as well. Lillian is prone to respritory infections such as rsv virus and pneumonia she will get a series of 3 shots a year to hopefully protect her from further hospital stays this is due to her irregular breathing patern and low o2 levels. We do get assistance for these things, we are asking for your help with some of the remainder of the financial pressures. We have set a long term goal of 50k which would help with the equipment, travel cost, unexpected/expected hospital stays and acomodations needed in the home for her saftey and mobility in the years to come. getting Lillian the care and providing her the ability to move as freely as posible to help her achieve the simple stages, hoping to improve her future, and all the children alike deserve. Thank you for being a part of Lillian’s Journey with Joubert syndrome.
You can also visit jsrdf.org to find out more about joubert syndrome or to donate to the foundation itself.
Lillian was a full term, normal pregnancy and delivery however it did not take us long as parents to realize something was not right with our new beautiful baby girl. At only ten days old she was moved too Mc Master Children’s Hospital 70km out of town, because she had problems breathing and although she was eating she had also lost 2lbs of her total body weight.
Over the course of the next nine and a haft months we have been back and forth from our home to Hamilton some times daily visits a few times a week and extended stays for mommy and baby being admitted to hospital on 3 separate occasions during a stay at the hospital for numerous testing including eeg, ecg, chromosome and genetic blood tests x-rays a swallow study and MRI finally last week we got an answer.
Lillian has a “rare” genetic disorder called Joubert syndrome which effects only between 1/80,000 boys and 1/100,000 girls in live births.
Joubert syndrome is characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. It is one of a growing group of disorders called "ciliopathies," caused by dysfunction of a part of the cell called the cilium. Disruption of cilium function likely explains the incidence of eye, kidney and liver problems in individuals with Joubert syndrome.
Individuals diagnosed with JS 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. Delay in gross motor, fine motor and speech development is seen in almost all individuals with JS. Delays can be due to low muscle tone and impaired arm, leg, eye and mouth coordination. Children have also been noted to have visual impairment due to abnormal eye movements. Developmental delays are usually treated with physical therapy, occupational therapy, speech therapy, and infant stimulation. Most children diagnosed with JS are able to achieve standard milestones, although often at a much later age.
We have started this page to help raise money for this unexpected medical needs, overnight hospital stays, home care assistance for other children when we need to be away from home, and hoping to attend a 5 day conference held in phenoex USA mid 2017 for joubert syndrome, it is held only once every 2 years this opportunity would give us the ability to meet doctors who specialize in genetics and joubert syndrome as well as other families who share our story.
We have had help from other organizations, aiding in the purchase of feeding pump, pediatric wheelchair ect.. we have been told that we will need more specialized medical/feeding equipment for her such as chair and specialised car seat. Lillian has a specialized diet with a formula costing $160 for a small 400g can, currently lasting her about 3 days thankfully this has been cover at this time! Supplies for her feeding tube/pump, cleaning and care equipment. We soon will be needing renovations to our home to support Lillian’s mobility as well as our transporting equipment and space management.
As Lillian grows she will need yearly tests done on liver and kidneys, weekly physical therapy sessions at minimum, occupational therapy, speech therapy, and infant stimulation as well. Lillian is prone to respritory infections such as rsv virus and pneumonia she will get a series of 3 shots a year to hopefully protect her from further hospital stays this is due to her irregular breathing patern and low o2 levels. We do get assistance for these things, we are asking for your help with some of the remainder of the financial pressures. We have set a long term goal of 50k which would help with the equipment, travel cost, unexpected/expected hospital stays and acomodations needed in the home for her saftey and mobility in the years to come. getting Lillian the care and providing her the ability to move as freely as posible to help her achieve the simple stages, hoping to improve her future, and all the children alike deserve. Thank you for being a part of Lillian’s Journey with Joubert syndrome.
You can also visit jsrdf.org to find out more about joubert syndrome or to donate to the foundation itself.
Organizer
Angel Lynn
Organizer
Saint Catharines, ON