When I was 20 weeks pregnant at our scan they found that Leela had bilateral talipes. They also found she had an extra blood vessel in her heart and the umbilical cord only had one vein and one artery. With all these findings it could indicate a genetic disorder. We refused any invasive testing. When Leela was born it was very apparent that she had other issues. She had very severe talipes and her hips were totally square, they also found she had a hole in her heart.
As she grew more and more issues became apparent. She had lots of genetic testing but it wasn't until she was a year old we got her spinal muscular atrophy diagnosis caused by a mutation in the gene DYNC1H1 this form of SMA is very rare At around 1 and a half years old she started having seizures she has absence and tonic clonic and was diagnosed with epilepsy and is on medication to help control her seizures. Since birth Leela has had casting for her feet, surgery, wears a helmet and uses lots of specialist equipment to help her day to day life.
Leela is 6 years old, she can't walk, stand, crawl or talk but she is defying what was expected of her.