Dear Friends,

  • As many of you know, Olivia has a rare genetic condition called Goldblatt Syndrome that affects only 17 other known patients world-wide. She is 8 years old, weighs 10kg and measures 67cm.
  • As we continue the search for her molecular diagnosis, at times we receive disappointing news.
  • After 7 years of waiting for the possibility of further testing, we were told this week that the team at CHUV in Lausanne does not currently have a research project or funding available, that would be pertinent for our family.
  • Olivia’s geneticist in London enrolled the family in the 100,000 genomes project in 2014, but as of 2021, no “known” genetic mutations were found.
  • The doctors informed us, ” we wish you all the best in your quest for a molecular diagnosis, but I do not have any more testing that I can offer.”
  • Olivia has a mutation of an extremely rare condition; therefore, we live in a world of the unknown. The mentality we’ve grown to accept is to take life as it comes, day by day. As Olivia works hard to strengthen her muscles, we walk one foot in front of the other.
  • Thankfully, our journey to Paris has opened doors and more genetic testing has already been done at the Imagine Clinic at Hôpital Necker.
  • We continue to stay hopeful that a molecular diagnosis is still possible. Perhaps Olivia is the sole person on this planet with her own unique genetic make-up. That is our reality.
  • After I recover from a 3-day stress migraine, we will continue to live, as a family, with a child of a rare disease.

Lots of love,

Stephanie xo