In 1998, two geneticists at Sainte-Justine Hospital in Montreal (Quebec) told us they had never seen such symptoms before and that could be a pure accident ; so we were not too worried about a future pregnancy… We began to wonder in September 1999 after my second medical abortion. We were deeply disappointed to learn that no further test (other than those done on our first baby) would be carried out at the hospital. According to Dr Cadrin, gynecologist and geneticist at Sainte-Justine Hospital, everything had been done to find out what was wrong, "everything" meaning usual tests such as viral and chromosomal ones. Her genetic diagnosis was a recessive and unknown disease. How could she say it was recessive, whereas it was unknown and non traditional modes of inheritance (mitochondrial female-linked, germline mosaicism, immune - maternal anti-AChR...) could not be ruled out ? Then we asked her whether our case would be made available to the scientific community. Her answer was in the negative because she probably thought there were some missing information in our file. In other words, our two abnormal babies would be forgotten before long : that was not acceptable and we experienced a real "psychological torture". Having had two affected pregnancies, we thought it was important to get to the bottom of the problem.
Thanks to information on the Web and two other specialists we consulted in Paris in December 1999, Dr Marie Gonzales (foeto-pathologist at Saint-Antoine Hospital) and Dr Geraldine Viot (geneticist at Cochin Hospital), we realized that further tests could be initiated in order to get more insight. Actually both specialists could only emphasize the deficiencies of our medical reports. Dr Melançon, geneticist in a private-owned office located in Montreal, decided to help us and pressed some physicians in Sainte-Justine Hospital, especially Dr Oligny (pathologist), to investigate further. He finally managed to make Dr Oligny write up a report on a possible metabolic disease for the second fetus. But the pathologist was still unable to explain the disorder of the first fetus. Once again, lack of human and financial resources forced him to stop research in our case. So we managed to make an appointment with Dr Mitchell, geneticist at the hospital. After this consultation, our file got more topical.
In September 2000, Dr Oligny asked one of his pathologist colleague in Vancouver for his opinion on glass slides because he put some type of glycogenosis forward. But Dr Mitchell kept it all rather vague as regards this second opinion. At our request, Dr Oligny sent glass slides and some transparencies to France in December. Actually, we did not trust Sainte-Justine Hospital any more because we felt that nobody took care of our problem properly, there was no follow-up except when we plagued Drs Oligny and Mitchell with questions.
In April 2001, Dr Viot gave us the preliminary report by Dr Raymonde Bouvier working at Edouard-Herriot Hospital in Lyon (France). Dr Bouvier raised many questions and wanted to see the X-Ray of the first fetus. After many repeated requests to Sainte-Justine Hospital, we finally sent her the X-Ray as well as forty-eight ultrasound negatives of the second fetus. As you can read on page Clinical case, in September 2001 Dr Raymonde Bouvier who submitted this difficult diagnostic problem to the French Feto-Pathology Society, did her best to enlighten us.
Of course, our case is so complex that it may be impossible to support a reliable diagnosis
as our science knowledge stands at present. But we must admit that Ste-Justine Hospital did not take all appropriate measures
in order to get to valid conclusions. Firstly, there was no dialogue between physicians and no leader in charge of coordinating investigations,
compared with French specialists teamwork. Secondly, we have found several omissions. Here below the most glaring mistakes :
"That's one of the most complex case I have met with for the last 6 years", Dr Oligny said. Then an "exceptional" case should have required "exceptional" action. Therefore it would have been appropriate to preserve every element related to this case (amniotic fluid, tissues, etc.), despite hospital budget cuts. Furthermore, lack of series in the literature was not supposed to exempt the hospital from fair and well-reasoned management. For further details on management, please refer to the bottom of the page About hydrops fetalis.
The real problem lies in the fact that most doctors (geneticists and pathologists) do not have the time or interest to continually search for new information about a case that they may see once in their life. They often think further investigation would be too expensive for only one case. These physicians who neglect tricky pathologies do not deserve to be called "Scientists". Real Scientists feel personally involved in rare disorders and look hard for the underlying causes ; they take up exciting challenges. Moreover, a physician who is out of his depth often fails to consult his colleagues, when in fact the only way science can make progress is mutual cooperation. A discovery could change the way of looking at things to the advantage of Research.
Another point can not be too strongly emphasized : Physicians in charge of a complex case should make the effort to remain in close touch with the couple. So they must answer questions clearly, keep the couple informed of any development regularly and explain their diagnostic difficulties, different from those due to budget problem which was often mentioned at Sainte-Justine Hospital. In short, they must give the couple as much genetic information as they can with humanity. What a couple in that situation is entitled to expect from his physician is the TRUTH, the last thing he wants is a hasty genetic diagnosis which would not be based on specific investigation.
Moral of this story : It is essential to find a good doctor - one that is willing to work with you and learn with you. There are only few of this caliber. So you do not have to take for granted what your physician says. Maybe he is not the good one !