Loving someone who is RARE is a precious honor. I am thankful God has given me the privilege to love 2 special RARE people in this life. This RARE condition is a Chromosome and Neurological Disorder called L1 Syndrome. The ins and outs of daily struggles makes it worthwhile when the smallest little grin comes across their face or hearing the laughter and seeing the silly faces they make when they think no one is watching or listening or even signing a new sign after teaching it to them over and over and over again and you feel like your not winning this battle and all of a sudden…. he signs….
I never thought I would see the day of being able to meet other families that walk in my shoes daily. For so long I begged and pleaded with God to help me find someone…surely I can’t be the only one in the world?
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**
Hydrocephalus is referred to as water on the brain. The water is called cerebrospinal fluid (CSF), a clear liquid that is produced in the 4 ventricles (cavities) of the brain.
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.