Our son Dante was born June 10, 2011. He is very precious to us and we cannot imagine our lives without him. He almost died at birth with double shoulder dystocia. At the time no one knew why he got stuck in the birth canal. Why his oxygen was desaturating and his carbon dioxide levels were so elevated. Why he was so tired and slept all the time and had difficulty feeding. He underwent more tests in the first month of his life than we had ever gone through in our lives.
Dante was finally diagnosed with Prader -Willi. A rare genetic syndrome that affects 1 in 12 000 births. It is a syndrome that affects chromosome 15, where certain genes on bands (q11-13) are silenced. What researchers have found is that both the pituitary and hypothalumus glands are affected and thus children born with this disorder have unstable levels of hormones being released that affect their growth, muscle mass, satiety/hunger, behaviour and fertility to name a few. At birth, children with this syndrome can have a number of these symptoms - low muscle tone (very floppy), respiratory problems, difficulty feeding needing to be fed by gavage, low cry, very tired and always sleeping. Thinking back now to Dante’s first month of life, everything started to make sense.
Thanks to research, learning of Dante's diagnosis in his first year of life enabled us to take a proactive approach and start him on occupational and physiotherapy. This will help to improve his motor skills and strengthen his muscles so he could hold up his head, situp and eventually walk. Dante is also being followed by a nutritionist, respirologist, urologist, ENT and endocrinologist regularly to address all other possible dysfunctions that can be presented by this genetic disorder. Dante will soon be started on growth hormone which will help him maintain a normal growth curve and improve his muscle mass, bone density and overall well being. We are told the hardest years are yet to follow, when in early childhood hyperphagia sets in and these children struggle daily with food because the signal never gets to their brain that they are satisfied and no longer hungry. If not controlled by loved ones this can lead to obesity and death. This eating disorder can take control of their lives making it difficult for them to ever live independently.
Researchers have given parents of children with Prader-Willi ``Hope`` that there are studies that are awaiting to be done that can prove to be very promising to eliminate the challenges of Prader-Willi. All they need is funding. Please help us raise money to fund these research projects. Please Donate! Tax receipts are available for donations of $25 or more. All proceeds from the One SMALL Step walks go to fund the Prader-Willi Syndrome Research Plan jointly created by FPWR Canada and PWSAUSA. Learn more about PWS and this event at http://www.fpwr.org/. Thank-You.