Turner Syndrome & Cerebral Palsy

A heartbreaking article in the New Jersey News this week shares one family’s unique story of living with and losing a loved one who suffered from a rare birth defect. Our Chicago birth injury lawyers appreciate that the experiences and emotions revealed by the family in this story are shared by many families in our area who have gone through or are going through similar situations. The story reveals the immense uncertainty that faces many of these families as their child grows up.

The family in this case gave birth to their last child, Jane, in the early summer of 1963. At first there seemed to be absolutely nothing wrong, and the family was informed that they had delivered a healthy child without any birthing complications. However, when the girl was four months old she began having random choking episodes. The family’s pediatrician ignored the family when they first revealed their concerns, claiming that the choking fits were natural. It wasn’t until one of the choking episodes almost killed the baby that she was actually admitted into the hospital. Two days later medical personnel performed a “vascular ring” surgery to correct an esophagus problem that was apparently caused the choking. The girl came through it fine and the family was told that everything should work out from that point forward.

However, the girl exhibited odd behavior at two years old, and so the family went back to the hospital. Eventually, a neurological workup was performed where the doctors notice oxygen loss to the brain associated with the thoracic surgery. At that point the girl was diagnosed as suffering from cerebral palsy.

Things still didn’t seem right by the time the girl was 13 years old. She was quite short and showed no signs of going through puberty. It was only then that a chromosomal test was performed. The test revealed that the girl had a form of Turner Syndrome (TS). This occurs when a child does not have 46 chromosomes and two corresponding XX or XY chromosomes. In her case, 10% of her cells had only 45 chromosomes and one X chromosome.

The family learned that hormone therapy could do a lot to help those who suffered from TS. However, for various reasons her doctors did not want Jane to receive the treatment. Even after the family received clear advice from leaders in the TS field about the benefit of the therapies, Jane’s doctors demurred. It was only when the family took the doctor to a separate endocrinologist (away from the general practitioner at the facility where she lived) that she began received hormone therapy. She was 37 years old at the time. Unfortunately, because the treatment was given so late, she developed various complications that impacted her quality of life-such as osteoporosis and resulting bone fractures. Jane died last August at the age of 48.

Many families who have children with special need face this roller coaster experience of uncertainty that often lasts for years. The Chicago birth injury lawyers appreciate the immense toll that these sorts of challenges have on area community members. Sometimes there is nothing that can be done. But in other situations, proper treatment is withheld or delayed unnecessarily. That should never happen. It is important for family members to remain vigilant about the care their loved one receives to ensure it meets all applicable standards.

See Our Related Blog Posts:

Cerebral Palsy Primer: What It Is & When It Arises

Birth Injury Lawsuit Filed After Child Born with Cerebral Palsy

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