Hereditary spastic paraplegia is a general term for an expanding group of rare genetic disorders characterized by slowly progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. Other symptoms can occur in the pure subtypes including bladder dysfunction or abnormal sensations in the lower legs or feet. HSP is classified as “complex” or “complicated” if additional symptoms are present such as an inability to coordinate voluntary movements (ataxia), seizures, intellectual disability, skin disease, dementia, and hearing and vision abnormalities. Individual forms of HSP are caused by a mutation to a specific gene.
X-linked hydrocephalus (L1 syndrome)
**September is Hydrocephalus Awareness month**
The Hydrocephalus Association describes X-Linked Hydrocephalus and Finding our way with L1cam! Check it out!!
Hydrocephalus comes from the Greek words hydro meaning water and cephalus meaning head.
Hydrocephalus is an abnormal accumulation of cerebrospinal fluid (CSF) within cavities in the brain called ventricles. Cerebrospinal fluid is produced in the ventricles and in the choroid plexus. It circulates through the ventricular system in the brain and is absorbed into the bloodstream. This fluid is in constant circulation and has many functions, including to surround the brain and spinal cord and act as a protective cushion against injury. It contains nutrients and proteins necessary for the nourishment and normal function of the brain, and carries waste products away from surrounding tissues.
Hydrocephalus occurs when there is an imbalance between the amount of CSF that is produced and the rate at which it is absorbed. As the CSF builds up, it causes the ventricles to enlarge and the pressure inside the head to increase.
My boys were diagnosed with Hydrocephalus at birth.
Congenital hydrocephalus accounts for approximately 50% of all forms of hydrocephalus.
It has been a full day at the Emergency Room at the Children’s Hospital. I do not understand why things happen the way that they do but there is a reason of some sort for it. I am looking for answers. I want to know why my child is hurting and no one can fix this problem.
Today has been another day of clinging on to hope and having faith that God will help us through this storm we are in. I had to take Brent to the Doctor today. He had a blockage and I just knew we would end up in the hospital. They were able to do the procedure in the office and gave instructions on what to do when they sent us home. I was a little afraid because I was thinking that the hospital would be a better choice for him.
Therapy dogs are dogs who go with their owners to volunteer in settings such as schools, hospitals, and nursing homes.
From working with a child who is learning to read to visiting a senior in assisted living, therapy dogs and their owners work together as a team to improve the lives of other people.
SURVIVING TWO THRIVING...with L1cam Syndrome 