Thomas' Story

Thomas was born on April 29th, 2010. He was born four weeks early with hearing loss, which we thought was our largest obstacle and was devastated.  With the help of our ENT we have been able to temporarily correct his hearing with annual tubes placed in his ears.  Then we discovered he had Duane Syndrome at five months old, which we now see a specialist to work with his eyes and ensure we are getting the best for his vision. Again, we thought this was devastating news but we would deal with it.  At the age of 20 months old we got the official diagnosis of Klippel Feil Syndrome in relation to the fusion of vertebrae in his neck (cervical).  Thomas has unusual bones throughout his entire spine.  His neck has several unusual bones and several fused bones, he then has butterfly vertebrae in his thoracic of his spine and another large wedge piece in his lumbar.  He has also been diagnosed with Failure to Thrive, Lack of Coordination, and Hypotonia (low muscle tone).  We have a team of specialists that are working with us to ensure Thomas' well being from specialists to therapists.  He is currently in Speech, Physical and Occupational therapy.

We also are working with a sub-specialists geneticists in order to confirm the syndrome of Wildervanck, which is encompasses all of the anomalies.  "A syndrome is a group of signs and symptoms that collectively characterize or indicate a particular disease or abnormal condition; the sum of signs associated with any pathological process."

Different syndrome names are given to signs and symptoms of those collective characterizations by physicians that do research and publish medical articles and reports. There are at present over 7000 rare disease labels (syndrome names). More are added daily as research is completed.

Thomas is also involved in two separate clinical trials to help further the research and education for his two main syndromes, Duane and Klippel Feil.  We are currently sinking in medical debt but will not stop supporting our son no matter the costs.  We are hoping to get him some additional help financially through the Deaming Waiver through Medicaid.  Until then, our friends are helping us raise money for his medical fund.  My hope is that we will raise enough to keep our heads above water until we can get Medicaid and then continue our fundraising efforts for some group or organization that will directly benefit Thomas and other children like Thomas.

The decision on disability benefits is based on medical files and face-to-face interviews to find the degree of disability. (It ain't easy; but it isn't impossible.)


The purpose of this blog will show itself in due time, but I feel that I was led to write it. I never claim to have good grammar, be a good writer, or be able to articulate words well. But this is just a mom writing about her son and our medical journey of Duane Syndrome and Beyond.

June 9, 2010 ~ 6 weeks old

Here is a picture of him with his brothers:

May 27th, 2010 ~ Almost 1 month old
Tanner, Thomas and Tyler

September 2012
Tyler (7), Tanner (5) and Thomas (2)