Brynlee Pitchforth is 14 years old and was diagnosed with Williams Syndrome at 16 months.
Williams Syndrome is a microdeletion of approximately 26 genes off of the 7th chromosome. Kids with Williams Syndrome are very unique.
They are exceptionally friendly and love everyone. They also have many physical challenges associated with the syndrome. One of the deleted genes includes elastin, which helps to make our bodies flexible.
Because this is missing, she has very loose joints and tight muscles. Brynlee’s biggest challenge is her heart and vascular system. She has supravalvular aortic stenosis, or a narrowing of her aorta as it leaves the heart, as well as mid-aortic syndrome, or a narrowed aorta. Her aorta is roughly 5 mm at its narrowest location, which is also where kidney arteries are. Because of this, she takes two different blood pressure pills every day. Treatment options for this are not great, which is what qualified Brynlee for Make-A-Wish.
Kids with Williams Syndrome love music, and Brynlee is no exception. She especially loves classical music, and has always loved tower bells and clocks, in any form, that chime. She can often be found watching YouTube videos of clock chimes. The Westminster chime is the most common chime, and her very favorite. It originated in the UK and is what plays at Big Ben. Did you know Big Ben has 334 steps to the belfry? Brynlee has always had a fascination with Great Britain and dreamed of seeing and hearing Big Ben in real life. Brynlee cast her wish to go to London in July of 2017. It was granted shortly thereafter, but because of Brynlee’s anxiety and anticipation over change, it was decided that she would not be told until just over one week prior to the trip. Just after her wish was granted, it was announced that Big Ben would be closed for six years for renovations. As you can see in the picture, this clock face was all that was visible of the tower, and it was silent. But it did not matter. Brynlee was still ecstatic!
Brynlee’s Make-A-Wish trip to London was seven days long, and included all the sights of London, including: The Elizabeth Tower (Big Ben), Westminster Abbey, Hop-on Hop-off bus, St. Paul’s Cathedral (Brynlee climbed clear to the top), Platform 9 ¾ at King’s Cross Station, Paddington Station, Windsor Castle (Harry’s wedding will be here!), Buckingham Palace and changing of the guards, Hop-on Hop -off boat to Greenwich, Trafalgar Square, Piccadilly Circus, White Cliffs of Dover (Driving in London was interesting!), Canterbury, Tower of London, The Crown Jewels, The Tower Bridge, Borough Market, Wicked, Mamma Mia, and don’t forget navigating the tube! Each day and moment was so unique and special, that it would be impossible to choose a favorite.
It truly was a trip of a lifetime which would not have been possible were it not for Make-A-Wish! Thank you to Make-A-Wish Utah, and all their sponsors, for making dreams come true! Special thanks also to Party Express, R Pizza, and Stewart’s for their donations to her wish reveal party. Thank You seems so inadequate.
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