On March 11, 2017 this website was launched. As the mother of a child with a rare, genetic condition, I felt it was time to share my experience with the world.  Olivia is 10 years old and was born with her own unique form of Dwarfism, called Goldblatt Syndrome.  I have learned so much since embarking on the journey of motherhood, especially since her condition has not been properly diagnosed.  We do not know what the future holds, but we cherish each day as a family of five.
This is her story-

My name is Olivia Lugani. I am 10 years old. You may not know me very well, but I would like to become your friend. I was born with an extremely rare genetic condition called Goldblatt Syndrome (aka Odontochondrodysplasia), which only 18 other children have been diagnosed with in the entire world. Mommy tells me it is due to a “spontaneous genetic mutation” that no one else in the world has been diagnosed with. Even doctors at a Lausanne Children’s Hospital in Switzerland cannot diagnose it molecularly.

I am a very tiny girl, measuring only 67cm (26in), 10kg. Mommy tells me I am always going to be small and a very special girl!

I have two sisters, one older and one younger. I am sandwiched in between! They play games with me and make me smile when days can be tough. I have a lot of pain everyday and many appointments every week so doctors can check on me. Mommy and Daddy give me cuddles to make me feel better, but I know they are worried about me.

Video from our first fundraising event in June 2017.

I have never been able to walk because my bones are deformed, my muscles haven’t developed, and my head is too heavy for my body to carry. Doctors discovered this is due to my rare bone deformity and neurological disease, which doesn’t yet have a name.

I used to be able to stand upright with a walker and holding on to parallel bars, but never independently. And since the age of 6, I can’t bear weight. It’s too hard for me.

I hope my upcoming spinal fusion/ decompression surgery will help me stand upright and take steps. With the help of donations and the support of my family and friends, I will hopefully gain mobility in my lower limbs and gain muscle tone. Doctors have recently discovered I have a neurological disease called a peripheral neuropathy that we never knew I had before.  The next step is to have my surgery and continue with genetic testing to try to find the underlying molecular origin. My rare disease is certainly an enigma mommy is pushing doctors around the globe to!

I love playing with my two sisters and my school friends. Math and science are my favorite subjects. I am very clever girl!

I would like to let you know more about my life and how well I am progressing on my journey.

Please follow me on Instagram : @agirlinabillion, Twitter and Facebook page (Olivia Lugani) for us to stay connected.

The past few years and definitely the years to come with be extremely challenging for me. With your support and prayers, I will be able to endure the difficult times a little bit easier.

My email address is olivia@olivialugani.com if you would like to send me a personal message. I look forward to staying in touch with you all.

xo Olivia