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Madison Marie Clewes
DOB: 01/06/00 EMANUEL SYNDROME - Partial trisomy 11/22 Mom Lisa
Clewes On 1/6/00, Madison was born at 41 weeks (induced at 1 week overdue) weighing 6.6 lbs, 21.5 inches. I was 29 and my husband was 33 years old and our oldest daughter was 3. It was an uncomplicated delivery and we had no prior miscarriages. At birth Madison was noted to have physical features that raised the question of possible genetic syndrome. The features were ear pits on either side of her face, broad forehead, deformed ankles, low muscle tone, migronathia (inverted jaw)) difficulties sucking, etc.. Our pediatrician immediately contacted a neurologist & geneticist to see Madison and begin series of exams, tests and MRIs The genetic testing determined that Madison was an unbalanced carrier and I a balanced carrier of T(11;22). My father, brother, daughter and nephew are also balanced carriers. We were told Madison was mentally retarded and didn't have any of the proper reflexes that gave an indication she would develop proper physical abilities and that she could be prone to seizures. It was very difficult to be in the dark about expectations for her future. However, it has allowed us to not put a ceiling on her abilities and give up hope. Because of that she had come further than our family has ever expected. Madison's father Gregg is her primary caregiver making goals he sets for her his challenge, working continuously with her and enjoying the rewards of Madison attaining those goals. Gregg does some carpentry on the side to keep his sanity from living with all females! Today, Madison attends a half day integrated pre-school which has been a large motivator in her life. She is non-verbal however loves music and singing especially with hand gestures. Her favorite toys are balls and bubbles, and her favorite person is her big sister. Madison understands simple commands and does some signing. Fortunately, other than several ear tubes and low weight, Madison has not had any surgeries and does not have major health issues up to this point. Madison took her first step in December 2003, not long before her 4th birthday and now 5 months later she walking with AFO's without the walker quite often although unsteadily. She is the happiest, most loving, outgoing and determined child I know. Lisa Clewes |
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