My name is Allison and our family was blessed with the birth of our third son, Thomas, a little over two years ago. I had an uneventful pregnancy with Thomas and no complications. All ultrasounds showed a perfectly healthy baby, and when Thomas decided he couldn’t “wait any longer”, he arrived four weeks early on April 29th, 2010.
Upon completion of the newborn screening testing, doctors determined Thomas had hearing loss. As Thomas began to grow, other things became more prevalent and we discovered when he was five months old that he may have Duane Syndrome.
At the age of 20 months old, we received a devastating official diagnosis of Klippel Feil Syndrome in relation to the fusion of vertebrae in his neck (cervical). Klippel-Feil Syndrome (KFS) is a rare skeletal disorder primarily characterized by abnormal union or fusion of two or more bones of the spinal column (vertebrae) within the neck (cervical vertebrae). Some affected people may also have an abnormally short neck, restricted movement of the head and neck, and a low hairline at the back of the head. KFS is usually is present at birth, but mild cases may go undiagnosed until later during life when symptoms worsen or first become apparent.
Our lives have not been the same since the KFS diagnosis. Thomas is in physical therapy, occupation therapy and speech therapy. He has had ultrasounds, x-rays and MRIs. He is very smart and happy, but will always have challenges to overcome as their is no cure or true treatment plan for his KFS syndrome. It’s a sad reality to realize that his life right now may be the best it will ever be, and as he ages things will only deteriorate due to this rare disease.
But to know Thomas is to love him. His baby blues will catch you and take you in straight to his heart. He is definitely a special child of God brought to teach us all about love for one another.