Trust your instinct.

There were two times in my life that I knew something was seriously medically wrong. The first was in 1998 when I worked in sales and trading at Deutsche Bank and one day I couldn’t run the Central Park Loop. The second was in January 2008, shortly after losing my job in Pasadena, when my 20-month-old daughter started vomiting, became lethargic and had flu-like symptoms that came and went over a four-month period.

In 1998, after months of running the Loop and probably being in the best shape of my life, I suddenly could not run, not even a quarter of a mile. I had a rapid heartbeat (tachycardia). I underwent a battery of cardiac tests and other than a re-diagnosis of “normal” arrhythmia, nothing was wrong. For one year, however, I suffered from bouts of shortness of breath…so bad that I scurried off the trading floor many times a day to sit in the bathroom stall and collect myself – willing my pounding heart back to beat normally. It wasn’t as if I had control over the shortness of breath or the pounding in my chest, but “hiding” for a time in the bathroom seemed to do the trick for a bit. Then I would go back to the desk and sit for a few more hours. As long as I didn’t exert myself I felt that I could feel somewhat normal throughout the day. However, the episodes started to occur more frequently and were very scary. I continued to see my highly-recommended internist and the lung specialist to whom he referred me. The lung specialist insisted that there was nothing wrong with me, even when some tests showed deterioration in lung function.

After ten months of feeling like, this I slept propped upright in bed. I couldn’t even lift my laundry basket and carry the clothes down the hall without going “tachy.” I had fevers that would be severe but last only a few hours. I had dry coughs and knew I was very sick. My lung doctor said that I needed to see a psychiatrist and he said it was in my head. Then all of a sudden a chest CT showed what they call “crushed glass” in my lungs and the doctor wanted to schedule OPEN LUNG SURGERY. “Wait, I said…you told me two weeks ago that this was in my head and now you want to take tissue from my lungs by cutting through my chest! How could this be?” I was glad that the doctor was now taking my complaints seriously but I was horrified of going under the knife for such a serious operation. I persuaded my doctor to schedule a bronchoscopy first. However, I never made it to the scheduled date for the procedure as I was rushed to New York Cornell ER where I fought for my life that night with a 77% blood oxygen level and lungs filling with fluid.

I have great respect for New York Hospital, where I received tremendous care as an inpatient and had a very skilled surgeon, Dr. Altorki. However, there was a lung doctor who probably could have helped me sooner just some 30 blocks north. Several months into the malaise I should have sought help at Mt. Sinai where the guru of lung disease practiced – Dr. Alvin Tierstein. After surgery I had inconclusive diagnoses based on a lung biopsy but have been treated ever since for sarcoidosis.

I learned several lessons: 1) insist on getting the care and tests you need to reach a diagnosis quickly (which is next to impossible with managed care in California); 2) seek out as many specialists as you can; 3) never let a doctor send you to a psychiatrist for the wrong reasons, and 4) TRUST YOUR INSTINCTS and don’t give up. If I had stayed home that night I would not have made it through the night. Throughout the entire year of feeling ill I constantly went to the doctor and my complaints were dismissed. I now know to trust my instincts.

Fast forward ten years and I found myself in a similar situation. You would think I would have learned my lesson – and I did – but it took several episodes of strange symptoms over 20 months to take action. Once I realized that I had to take action I got the answers and care my daughter needed and I didn’t let doctors who were roadblocks stand in my way. By doing so, I saved my daughter’s life.

When my second daughter was born in 2006 things seemed to go smoothly. Because I had tachycardia during my pregnancy and a rough labor with my first child in New York, my doctor in Pasadena suggest I have a C-section. My daughter Guinevere had jaundice, but otherwise, seemed normal. That was until she was several weeks old and I noticed intermittent diapers with some blood. The pediatrician said that it wasn’t a concern unless it became chronic (every diaper). Several weeks later the blood was still there sometimes and Gwynnie was vomiting what seemed like all of the breast milk she drank. I called the pediatrician several times and heard “vomiting and reflux is common,” “excessive vomiting is okay as long as it’s not projectile,” and “reflux is NORMAL in infants.” I was frustrated at the doctor visits. I explained that I had to change shirts because of the amount of milk she vomited, but the doctors in the practice said not to worry. My mother was shocked when she visited and saw Gwynnie vomit over my shoulder to the floor where a huge puddle formed. My Mom is the last person to call a doctor and “bother them” so I was quite alarmed by her reaction.

I called the office again when she was two months old and reported the same problems. This time I was lectured to by one of the older doctors in the practice. She said “blood in the stool is NOT normal!” and implied that I was wrong not to worry about it – even though I was told by the other doctors in the practice not to worry about it. I decided instantly to switch to a new practice. This new doctor sent us to a gastro specialist who insisted I take my daughter off breast milk. He put her on an amino acid feeding- tube formula in a bottle so her body wouldn’t have to break down protein. This would alleviate any irritation or inflammation in her intestines. My instincts told me that a formula that could be better than breast milk was impossible, however, we agreed. We fed her the $3,000/mo. formula (thankfully covered by insurance even though it was not a prescription). She no longer had blood in her stool, but she continued to vomit. Gwynnie was sleepy all the time and wanted to be held. We read this as a desire to snuggle with soft blankets and warm bodies – not as a sign of a serious disease that could have caused SIDS.

After several months, the vomiting lessened but the lethargy didn’t. In January 2008, right after I lost my job due to the credit crisis, Gwynnie began to vomit excessively. She was lethargic and sometimes had low blood sugar readings in the 40’s. We took her to the emergency room several times and were told not to worry about the hypoglycemia; she was just dehydrated. I knew that something was seriously wrong with her at this point. Doctors and hospitals, however, can make you feel like your opinion doesn’t matter. I’ve since learned that good doctors listen to the parents of sick children.

From January 2008 to April 2008, Gwynnie was in and out of the ER every few weeks with vomiting that didn’t stop. Everyone said it was the flu, relapse of the flu and relapse of the relapse. She was even hospitalized in February at a local hospital and put on IV’s to give her stomach a “rest”. They thought it was a bad virus. However, once released, the symptoms continued. In mid-April Gwynnie vomited 26 times in the ER though her blood sugar reading was normal. She was discharged within 36 hours later the vomiting started again. This time I called our new pediatrician and she finally seemed concerned. I told her that Gwynnie didn’t look right and she told me to take her to Childrens Hospital in Los Angeles.

Gwynnie didn’t look all that bad when we arrived and the vomiting had stopped but I knew that she needed to be there. The attending physician examined Gwynnie and said she was dehydrated though otherwise normal. She asked questions about Gwynnie’s history. While she thought that it appeared to be dehydration, she assured me she would not let us leave until they covered all the bases. She quickly ordered a finger prick to test for blood sugar. When the nurse yelled out a 37 blood sugar the doctors flew into action. Something was clearly seriously wrong. It took over 12 hours to stabilize Gwynnie’s blood sugar. Childrens Hospital saved her life that night. Gwynnie’s acylcarnitine blood tests were very troubling. Gwynnie would go on to be diagnosed and treated by Dr. Richard Boles, a world renowned researcher and MD in Metabolic & Mitchondrial Genetics at CHLA.

We still struggle with the disease but we get the best treatment available with Dr. Boles. I eventually left the second pediatrician because she lectured me for making calls to specialists in search of a diagnosis. Dr. Boles referred to me another pediatrician. Since I am still unemployed I had to switch to an HMO and now I am with my sixth pediatrician (#’s 4 and 5 in the HMO didn’t know anything about Mitochondrial Disease). My current pediatrician doesn’t know that much about Mitochondrial Disease either, but she is willing to be a partner, is a good doctor and listens to the parents and patients. Getting the care you need is very difficult. Sometimes it’s a difficult diagnosis and other times it is the ridiculous managed-care plans that put up road blocks. I think that HMOs have some unethical procedures that don’t fit well with diagnosing difficult diseases. I recommend that when you have a choice you pay more so that if you ever need the flexibility to see any doctor you can do so.

Bottom Line: If I had not acted on my instincts and insisted that the doctors look closer, my daughter Gwynnie would not be here today. She would have been a “sudden death” statistic (slightly too old for SIDS). Thank God for doctors at CHLA who listen and thank God for Dr. Boles.

P.S. Good doctors give you their e-mail addresses and cell phones (my pediatrician in New York did this). Don’t waste your time on someone who isn’t going to be there for your child in the future. The system gets too hard to navigate. My husband’s advice from my lung disease is – don’t waste time on doctors who are arrogant or who are “popular” but don’t get results (and who don’t listen to the patient). That almost cost me my life. When they tell you it’s in your head, it’s time to find someone else.