Entry #6 Freeman-Sheldon Syndrome

100 diagnosis have been reported since 1983

Freeman-Sheldon Syndrome 

  Affiliated Names:

-FSS

                                                 -Whistling Face Syndrome 

Rare form of MCC, Multiple Congenital Conjectures Syndrome

          The topic I have chosen to share is about a chromosomal disorder that has become a park of my life since beginning of last year. I am still trying to familiarize myself about this syndrome and what it means to the person that is affected by it; how their quality of life is impacted. Unfortunately, I have a hard time retaining information regarding this subject. Plus, my mind becomes restless every time I consider learning anything related to it.  Basically, I hope that by focusing on Freeman-Sheldon Syndrome within my blogging, I will be more comfortable dealing with this genetic mutation.

              




      By definition, Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have distinctive facial features including a small mouth, with pursed lips, giving the appearance of a "whistling face." The reason, the condition is sometimes called "whistling face syndrome." is because of this unique characteristic.Another issue that is present with this disorder is difficulty swallowing, a failure to gain weight and grow at the expected rate (failure to thrive), and respiratory complications that may be life-threatening.  Moreover, speech problems are also common in this disorder and hearing loss may result as well. Even though intelligence is usually unaffected with Freeman-Sheldon syndrome Cases, approximately one-third have some degree of intellectual disability, or delay.

         Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is unknown. In Most cases, the inheritance pattern is unknown. Therefore, the parents of an individual, with this disorder,each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

        So why is this particular disease such a controversy to me or even important at all? Well first off, No , I am not a candidate for FSS;

                                                   ..... However I may just be a carrier. 

          

          My first child is a beautiful little boy who has done nothing but fight for his life since the day he was born.  In fact, that fight continues today and most likely for the rest of his life. Christian has been diagnosed with Arthrogryposis, Bilateral Club Feet, Multiple Congenital Conjectures (MCC), Chromosomal deletion, dysphagia, neurological delays, Trach dependent, G-tube supported, and the highest severity of Epilepsy.  Surprisingly, This list is not the complete background to my son. He also has "unknown/to be determined' complications. Presently, his medical team and I are working towards finding answers about my son's DNA mutations. After approaching many dead ends, I was recently advised that the Freeman-Sheldon Syndrome is most likely the main contribute to the complications Christian is experiencing. 

            ......Wow, that is a difficult bite to chew..

      With that being said, I feel that my purpose for my selected topic has been achieved. I feel more at ease with whatever will come in the future.