Melissa shares son Hugo's diagnosis journey, and her challenge of 10,000 steps each day of March 2021, to raise funds and awareness of Fragile X
Melissa tells us: "After our son’s traumatic birth in February 2018, we knew at 12 days old that something wasn’t quite right with him, we couldn’t put our finger on what it was but just knew there was something. After a few months we noticed that Hugo wasn’t meeting his milestones which began to concern us so he was referred to a development paediatrician as well as Speech and language, a dietician and physiotherapist. In March 2019 we had genetic test results back to say they were clear and Hugo did not have Fragile X Syndrome. He then went to at George’s in London to undergo more tests an MRI and a lumbar puncture. Then in July 2019 the results of these tests again came back clear."
"Our development paediatrician called us in to inform us that Hugo does in fact have full mutation Fragile X Syndrome and the reason this was missed was because his repeats were so high. We were heartbroken as we knew that this meant a life long condition where he will not live the life we had hoped for him like his sister can."
"We had never heard of Fragile X Syndrome and The Fragile X Society were there for us from the beginning and supported us in every way they can and still do."
"Hugo is now 3 and diagnosed with autism, non verbal, food aversion, sleep apnoea to name a few. 2021 we as a family were determined to raise money for this amazing charity and raise awareness of Fragile X by walking 310,000 steps each in March. We have so far raised over £800 and continue to educate friends and family as well as strangers on what it means to have and live with Fragile X and how it affects young siblings. "
Thank you so much, Melissa, for sharing your story with us, and for your fantastic fundraising! If you have any stories you want to share, or you would like to get in touch with our Families and Professionals Advisors, you can contact us here.