Olya has a fever
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Have you ever heard of "thanatophoric dwarfism"?
It's a very complex diagnosis. There are over 200 forms of dwarfism, but only one—thanatophoric dwarfism—is considered incompatible with life. Almost all babies die either at birth or in the first months of life. Currently, only 18 children worldwide are living with this diagnosis!
My daughter, Olya, has this dwarfism, and she is one of these 18 children. Although she was given no chance at life at birth, she turned 10 on August 30, 2023! (She was born on August 30, 2013, in Minsk.)
Olya is the only living child diagnosed with thanatophoric dysplasia in the entire Russian-speaking world, including the former Soviet Union. My sweet girl loves life and fights for it, despite being on a ventilator from the very first day of her life. Despite living in intensive care for the first three years of her life. Despite the fact that until she was two, she lacked basic reflexes: breathing, swallowing, sucking, and grasping. Despite the fact that our case is considered isolated and treatment was deemed inappropriate.
Miraculously, Olya is now learning to breathe independently, eat, hold her head up, sit, and even crawl!
This incredibly positive girl shows a special joy in life! Like many children with disabilities, she doesn't recognize her problems, and like most children, she thrives thanks to the love of her parents, sister, brother, and extended family.
Do we, her parents, have problems? Yes. Living with a tracheostomy, breathing with a ventilator, a gastrostomy tube, the need for constant suctioning of mucus, the need to help a child breathe when they're choking and unable to cough, and the challenges of rehabilitation.
However, despite all the difficulties, despite the prognoses and circumstances, we're here! We exist! We're alive!
And we want to do everything possible to make this happen!
With a diagnosis of thanatophoric dysplasia, this is also possible.
Diagnosis of thanatophoric dysplasia (thanatophoric dwarfism) and SADDAN.
Brief description of the diagnosis:
Thanatophoric dwarfism/
Thanatophoric dysplasia type I/
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a rare and complex genetic diagnosis that most often occurs as a result of a spontaneous mutation. Characterized by respiratory failure due to pulmonary hypoplasia (due to a narrow chest), as well as changes in the skeleton, brain structure, and skin.
Diagnosis of the child - Thanatophoric dysplasia THANATOPHORIC DYSPLASIA.
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) is a very rare genetic disorder.
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