January, 2014

In January 2014, in the hope of getting some answers, we traveled to visit a well-known Geneticist who had seen other cases of Goldblatt Syndrome based at Emory Genetics Center, Atlanta, Georgia, USA. Dr Bill Wilcox agreed to meet Olivia who was then 26 months old. His insight did help us gain some clarity, but the underlying issue with having a child with such a rare condition is that there is no medical textbook on Goldblatt Syndrome.  Each case is unique.
We had so many questions… How did this happen? (We have no history of dwarfism on either side of our family.) What does the future hold for Olivia? How tall will she grow? Will she ever walk / run? Walk achieve long distances?
When a doctor tells you your child’s syndrome is the result of a “spontaneous genetic mutation” you take a step back and say, “excuse me, come again??!!”  Even now, 3 years after receiving the diagnosis, it’s still beyond our comprehension.
We realised something was wrong with Olivia at about 6 months old. She wasn’t meeting her growth milestones and just wasn’t growing out of her big sisters’ old clothes. We had Carolina (who is only 15months older) as the benchmark, but our doctors kept saying “every child develops differently.” Those words are imbedded in my head.  A mother’s instinct should never be ignored. That’s an important thing I’ve realised I have to stick up for as I become more informed with Olivia’s needs and how the medical system works in the UK.
Everyday I continue to learn acceptance with what God has blessed us with. When I see the look in some people’s faces of uncertainty, I immediately reassure them by saying, “this is Olivia. She is 4. She’s a big girl in a small body.”  Then she starts talking to them and they become instant friends.
It’s been an extremely difficult journey for us, but with the support of our close friends and family, we are able to move forward with our blessed lives and cherish each day as a family.
God Bless you, my angel.
Xx mommy