Parents Blame Kaiser for Delayed Diagnosis of Turner Syndrome
By Barbara Wallace
8-26-2013 23:27:00

     GOLDEN, Colo. (CN) - A couple whose baby girl was born with “puffy feet” was told it could be a symptom of Turner syndrome, yet their Kaiser doctor told them, year after year, that they did not need to have her tested for the condition, although a simple blood test was available, they claim in a malpractice complaint filed in Jefferson County District Court.
     According to online resources from the Mayo Clinic, Turner syndrome is caused by a missing or incomplete “X-chromosome” in girls and can result in a variety of medical problems including heart defects, kidney problems, learning disabilities and an unusually short stature. Girls with Turner syndrome usually have undeveloped ovaries and do not begin puberty or menstruation at the usual age, sometimes not at all.
     The parents claim their daughter, identified in the complaint as N.C., went undiagnosed until she was in the seventh grade, and as a result has suffered “past and future costs and expenses of medical or other health care, past and future loss of enjoyment and quality of life, past and future embarrassment and emotional distress, and past and future physical impairment,” the complaint says.
     “Had plaintiff been properly diagnosed and cared for by defendants, she would have grown taller and would be taller now and in the future, owing to earlier therapies. Moreover, her other health conditions and deficits related to Turner syndrome would have been properly treated sooner and ameliorated or eliminated (including but not limited to her untimely sexual development and her attention deficit disorder and learning deficits),” the complaint states (parentheses in original).
     The parents accuse Dr. Jennifer E. Wood of brushing aside their growing concerns as N.C. became older and began to show more symptoms of Turner syndrome. Their daughter grew more slowly than her sister, her feet remained puffy and she began to have problems in school, their complaint says. The parents say they asked Dr. Wood about testing for Turner syndrome when she was two years old, when she entered the second grade, and again when she was in the third grade. The complaint says Dr. Wood told them a test was available “but she was sure plaintiff did not have Turner syndrome and was just growing slowly.”
     Finally, Dr. Wood agreed to do the test and a nurse told the parents the results were normal, the complaint continues. However, the complaint goes on to say that two years later, when N.C. was in the fifth grade and continued to have symptoms of Turner syndrome, her mother called the Kaiser Permanente office to check up on the test that had been done and “she was told by defendant Wood’s nurse – ‘Brandi’ – that the blood test done was ‘insulin growth factor.’ Brandi said the growth test results were normal.”
     The parents say they again asked Dr. Wood to do the Turner syndrome test and asked for a referral to The Children’s Hospital, where Dr. Paul G. Moe “looked at plaintiff, including at her bare feet, and stated, ‘Honey, you can put this to rest. You do not have to worry about this for the rest of your life. You do not have Turner syndrome.’ ” Dr. Moe is also named as a defendant.
     The parents allege Dr. Moe also refused to do the blood test because “plaintiff did not have a webbed neck, feet or hands and did not need the blood test.”
     Their complaint continues, “on information and belief, defendant Moe or someone working for him spoke with defendant Wood, and defendant Wood then cancelled a test for Turner syndrome.”
     The complaint goes on to describe a series of meetings with a new doctor, Dr. Leeanne Coakley, whom N.C. saw when she was in the seventh grade. Dr. Coakley confirmed N.C. was very small for her age and requested that Dr. Wood contact the parents “to discuss a blood test for plaintiff because of the possibility of Turner syndrome.”
     “Defendant Wood stated she would order the test but was certain plaintiff did not have Turner syndrome. She said that Dr. Coakley was very familiar with genetics and she trusted Dr. Coakley’s opinion,” the complaint states. “The blood test for Turner syndrome was done and came back with a diagnosis of Turner syndrome,” it continues.
     “Defendant Wood said she was sorry. Defendant Wood said words to the effect of, ‘I missed it. It is all right there.’ Defendant Wood said she cancelled the Turner syndrome blood test twice. Defendant Wood said, as to cancelling the test, ‘I don’t know why.’ Defendant Wood said she cancelled the second blood test after discussing plaintiff’s case with defendant Moe,” the complaint states.
     Plaintiff N.C. and her parents are represented by John R. Olson and Diane MacArthur Brown of the Olson Firm in Niwot, Colo.