The story of Katerina
Dear fellow rare-disease travelers,
I would like to tell you my experience about Kleefstra syndrome. My name is Katerina and I was the aunt of a Kleefstra syndrome (also known as 9q34.3 deletion syndrome) girl. I am using past tense since our baby girl passed away almost a year ago. Regardless of the situation, I would like to spread the awareness about the Kleefstra Syndrome. The most common characteristic of this rare genetic syndrome are low muscle tone, developmental delay and intellectual disability.
Christina was 4 years old when she got a respiratory infection. At first, the infection was minor but in less than 48 hours this minor infection turned to a major pneumonia and our baby girl admitted in the ICU with a pulmonary edema. Her lungs were very weak and complications led to her loss.
During her 4 years of life, Christina was suffering from seizures, she was on medication on valproic acid for 3 years and on vigabatrin for 1 year in combination with valproic acid. As a side effect of the valproic acid she had hypothyroidism and was on levothyroxine sodium. She couldn’t walk nor talk. She had major generalized hypotonia and scoliosis. She wasn’t always able to understand what someone said and she could not follow orders. But she totally understood love. And she was definitely trying to express her love back.
So, this is my rare disease story and my advice. Love your rare, precious children. And love them with all your heart.
Connect with other families living with Kleefstra Syndrome – RareConnect.org