SURVIVING TWO THRIVING...with L1cam Syndrome

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 Loving someone who is RARE is a precious honor.  I am thankful God has given me the privilege to love two special RARE people in this life.  This RARE condition is a chromosome disorder of the L1cam gene and it’s a neurological disorder called L1 Syndrome. Daily struggles make it worthwhile when the smallest little grin comes across my sweet boys faces or hearing the laughter and seeing the silly faces they make… Read More

I think I am drowning in my own sorrow.  I’m the lady who can handle everything that comes her way…. ya, NOT so much! I am drowning.  I pick myself up off the ground every single day hoping that I have made some sort of difference in a person’s life.  My son’s life. His life matters! Brently’s life does matter!  He has a purpose! God says he does. (Jer. 29:11)

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),… Read More

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.

So Greatly Loved

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Hope For The Broken Hearted

Blog by Debbie Kay, Founder of Hope For The Broken Hearted Ministries