Lola, she is a cheeky, intelligent, chatty, stubborn, strong willed and vivacious 4-year-old.

 

Lola was a healthy baby and child, but just a little short which her paediatrician thought was just a growth hormone deficiency. But in January 2017 after becoming a little unwell and an admission to Canberra Hospital on the night of 19th January we were to find out the real cause.

 

It was on the afternoon of the 20th January, that our lives changed forever as Lola’s MRI came back showing abnormalities in her brain and we were told she had a condition called Leigh’s Disease. We were then flown to Sydney Children’s Hospital for a week, leaving our boys behind for Lola to be assessed by her Neurologist, Opthamologist and Metabolic Team. We travel the 3 hour trip regularly for check ups.

 

Our hope is to help keep Lola as healthy and as happy for as long as we can, and maintain her quality of life. We hope to one day have access to a treatment slow the progression of Lola’s condition until hopefully a cure can be found to save our little princess.

 

 After genetic testing we found out Lola has two gene mutations in the nucleus DNA of her SURF 1 gene. The mutations are so rare there are only two other people recorded on the dataset with the first mutation (SURF1 NM_003172.3 - variant c.351T>Gp.Tyr117*) and presently, Lola is the only person they know of who has the second mutation (NM_003172.3:c.312_321del10insAT).  Through further testing we have also found out Josh and I are both healthy carriers of these mutations.

 

Lola is truly one of the bravest, strongest little girls I know, she has encountered more needles, cannulas, medicines and more cannulas again as they have blown in a single hospital stays then most experience in a life time and she just takes it in her stride, sometimes with a little help from Dolly Patron’s Jolene Katy Perry’s Roar or Macklemore’s Glorious to help her through the needles. Each week Lola also attends physio, occupational and speech therapy.

 

Sadly, Lola currently has already lost the ability to stand or walk unassisted in August 2017 and as a result she can no longer run around with her big brother Gerry (5) and her little brother Ike (3) due to disease progression. She currently relies on her Wizzybug Powerchair for mobility, a new addition that has been life changing again for us all. The independence she has gained, the joy and cheekiness in Lola’s face when she is free to move where she chooses makes all the bad days worth it. 

 

As a family the most important thing is that we are able to spend time making precious memories with Lola and our boys, Gerry and Ike. And we truly value each and every day, and take time to appreciate the small things in such a fast paced world. 

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Our mission is to fund SURF1 gene therapy research at UT Southwestern Medical Center in Dallas, Texas.  The field of gene therapy has gone through remarkable breakthroughs these last few years and offers incredible promise for genetic diseases such as SURF1 Leigh syndrome.

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