Emily was taken to the emergency room of Princeton-Plainsboro Teaching Hospital after falling off a merry-go-round at an amusement park. She was found unresponsive in the center part of the ride with a nosebleed and breathing problems.
Although Dr. House was on leave, Dean of Medicine Foreman brought Emily’s case to them. He introduced them to Emily’s mother Elizabeth, a developmental geneticist from Johns Hopkins Medical School who is an expert on her daughter’s condition. She assured the doctors that she was there as a doctor and not as the patient’s mother. Dr. Taub noted that nosebleeds and breathing problems are typical symptoms in AT patients. However, Dr. Lawson argued that AT patients typically live to the age of twenty and it was unlikely her condition would accelerate this quickly. She had tested Emily’s lungs two days before and they were functioning normally. Dr. Adams noted that the fall could have caused head trauma, but Dr. Lawson pointed out that if the diagnostic problem was easy, she wouldn’t need Dr. House’s team on the case. Dr. Park suggested Wegener’s granulamatosis. Dr. Lawson agreed it fit, but said x-rays were out of the question as AT patients are hypersensitive to ionizing radiation. She decided to perform an MRI.
However, when Dr. Taub and Dr. Adams checked in on Emily, they found her parents arguing. Mr. Lawson explained that in the week he had her prior to the fall, Emily had shown no symptoms. Dr. Lawson went to wake up her daughter for the MRI.
When they did the MRI, Emily explained she pretended to sleep because she didn’t like it when her parents fought. She was aware they were talking about a divorce. Dr. Adams was concerned that Dr. Lawson referred to her daughter as “the patient”. All of a sudden, Emily started crying out in pain and called for her father. Dr. Adams examined her and found her fingers and toes were cyanotic.
The doctors managed to restore circulation to the hands and feet before there was any permanent damage. Dr. Chase suggested Raynaud’s phenomena, set off by the cold of the MRI room. Dr. Adams noted stress can also set it off. Dr. Lawson argued that Emily had shown no previous signs of cold sensitivity and she has had numerous MRI’s in the past. Dr. Adams pointed out that the stress could have been precipitated by the argument Dr. Lawson had with her husband, which Emily overheard. Dr. Lawson admitted that Emily had overheard her arguing with her father numerous times before but denied it had ever caused any adverse reaction. Dr. Taub turned back to Raynaud’s and argued it could have been caused by lupus. Dr. Lawson pointed out Emily’s lymph nodes weren’t enlarged and there was no sign of immune activation. However, she did suggest that Raynaud’s can also be caused by heavy metal poisoning - her husband had recently moved into an older building, and Emily could have been exposed to toxins in the paint and insulation. She went to do an environmental scan of her husband‘s apartment. Dr. Chase pointed out that lupus was a much better fit, but Dr. Lawson pointed out she was the patient’s mother. Dr. Chase counter argued that she had already said she was supposed to be the patient’s doctor. Dr. Lawson said in any case, they would need her consent to treat Emily and left to do the environmental scan and ordered chelation. After she left, Dr. Chase said that Dr. Lawson had to be treated like a family member, not the attending physician. The team agreed.
As a result, Dr. Chase and Dr. Adams decided to do an environmental scan of the mother’s home. They found a fully equipped laboratory in Dr. Lawson’s basement. Dr. Chase thought it odd that the mother had never mentioned she had an entire lab full of dangerous chemicals and pharmaceuticals. Dr. Adams didn’t think Dr. Lawson would be stupid enough to allow Emily in the basement, but Dr. Chase soon found a fully equipped children’s play area next to the lab. They found a large quantity of LEX-2, an experimental antibiotic. Dr. Chase was familiar with it - it was being tested on AT patients because in theory it had the ability to correct errors in the faulty gene that causes the disease. Dr. Adams argued that this didn’t mean that Dr. Lawson was giving it to Emily - any researcher doing work on AT would be studying it. However, Dr. Chase pointed out the complete lack of any sign of laboratory animals.
Dr. Foreman, Dr. Adams and Dr. Chase confronted Dr. Lawson about the LEX-2. Dr. Chase was of the opinion that Emily’s condition was a direct result of the LEX-2 injections. Dr. Lawson told them she had tested the drug for ten years before giving it to Emily, including using it on herself for six months with no ill effects. Dr. Foreman reminded her she should know that a trial on a single person is meaningless. Dr. Lawson tried to explain that AT patients suffer from numerous respiratory infections and they tend to get worse over time. She knew LEX-2 wouldn’t be approved for at least five years, while Emily would not have survived the previous winter without it. Dr. Foreman pointed out FDA requirements are there for a reason and there is an ongoing study at Jackson Memorial Hospital. Dr. Lawson argued that she knew about the study, and that Dr. Gaines was going to publish next month. Dr. Foreman explained that he had just spoken to Dr. Gaines and they had just found out LEX-2 caused kidney failure in mice and rats. Dr. Lawson was stunned and realized she had probably damaged Emily’s kidneys. Dr. Chase said Emily probably needed an ultrasound guided kidney biopsy to see how bad the damage was and whether it could be reversed.
As they did the ultrasound, the first kidney looked fine, so Dr. Chase decided to let Emily handle the wand to examine the other one. However, when she tried, she complained that her chest hurt and she started spitting up blood. Dr. Chase realized kidney failure wouldn’t cause that symptom.
Emily’s kidneys turned out to be fine, but Dr. Chase was still convinced the LEX-2 was to blame. Dr. Adams thought it might be pneumonia, but Dr. Lawson pointed out there was no persistent coughing, chills or excess sweating. Dr. Taub suggested a pulmonary embolism. Dr. Park admitted it fit coughing up blood, but couldn’t figure out how Emily had developed a clot. Dr. Taub suggested it might be from the bruising she suffered when she fell off the merry-go-round - it could have formed a deep-vein thrombosis which broke off and stuck in the lungs. Dr. Lawson realized that if this were the case, Emily needed heparin before another clot caused a heart attack or stroke.
However, the doctors were paged and were told Emily’s father was trying to have Emily transferred to New York Mercy Hospital. Dr. Lawson tried to stop him, but the father noted that all the treatments at Princeton-Plainsboro had made her worse. Dr. Lawson argued she had the right to say where Emily was treated, but the husband countered that she unilaterally treated her daughter with experimental medication without his consent. Dr. Lawson said that Emily would have died if she hadn’t. Dr. Chase told both parents to stop arguing because of the effect it was having on Emily. Dr. Chase went to get her some candy. Dr. Taub explained to the father that they thought Emily had a pulmonary embolism from the fall and that she could die if she wasn’t treated right away. However, another fight started when Dr. Lawson intimated that it was the husband’s fault Emily was sick and the husband countered that giving the child a merry-go-round ride wasn’t the same as giving her experimental treatment. The husband pointed out that Dr. Lawson knew little of her daughter’s life, and noted that she had given Emily a toy penguin even though Emily had been having nightmares about them. Dr. Lawson countered that Mr. Lawson knew nothing about Emily’s medical history. Mr. Lawson agreed not to interfere in his daughter’s treatment.
The liver failure was due to a blockage of the hepatic vein. Dr. Park thought it was polycythemia vera, but the patient’s red blood cell count was normal. Dr. Adams thought it might be a connective tissue disorder. Dr. Lawson finally suggested that her rare condition might be at fault - the condition is so rare, there was no way to be sure that this wasn’t the final stage. Dr. Taub told her that there was a process to go through before they came to that conclusion, but Dr. Lawson finally realized she couldn’t work on the case any more and left. Dr. Taub returned to the differential and suggested advanced Lyme disease but Dr. Park noted that the patient’s blood cultures were negative for it. However, Dr. Chase pointed out that in its advanced stages, it isn’t found in the blood, only the organs and nerves - it fit all the symptoms except the nosebleed. Dr. Park asked if it were Lyme, why was it affecting her now and not before. Dr. Adams realized that Emily had been given a steady stream of antibiotics that would have treated Lyme and, when she entered the hospital, they stopped them. Dr. Chase went to start Emily on amoxicillin.
Dr. Chase and Dr. Adams went to suggest Lyme, but Dr. Lawson couldn’t figure out how Emily could have been exposed. However, Mr. Lawson admitted that he had taken Emily for a walk in the woods. Dr. Lawson agreed to allow the lumbar puncture to confirm it.
As they performed the lumbar puncture, Emily expressed distress about the fact that the only thing her parents fought about was her. She thought they might get back together again if she died. However, as they prepared her for the procedure, she lost muscle control and complained about her left arm. Dr. Adams and Dr. Chase examined her, realized she couldn’t hold her arms up, and realized it was because she was having a stroke.
Dr. Chase got the fellows together and started going over the symptoms again. Dr. Park once again noted a pulmonary embolism was the best fit, but it had been ruled out. Dr. Chase asked the other doctors to think about what could act like a clot without being one. Dr. Taub suggested a fungal infection, but the cerebro-spinal fluid showed no sign of fungal or bacterial infection. Dr. Park suggested blood malignancies - such cancers are known to occur in AT patients. Dr. Taub countered that it takes cancer longer than three days to progress from no symptoms to near death. However, Dr. Chase realized that a tumor might also cause a blockage and an atrial myxoma would fit the bill. The myxoma would occasionally block the flow of blood through the heart valve, leading to it backing up in the hepatic vein, eventually forming a clot. The same blockage reduced blood flow to the hands, feet and head, resulting in the Raynaud’s and the stroke. A piece of the tumor in the lungs would act like a pulmonary embolism, resulting in the breathing problems and coughing up blood. Emily needed surgery to remove the tumor.
The surgery was successful and removed the tumor, and the biopsy showed it was benign. Emily wanted to know if she was all better, but her mother explained the tumor wasn’t what made her sick. The family agreed to go to the aquarium together.