UPDATE: A study has been initiated now by Dr. Peter Vadas, head of Allergy and Immunology at St. Michael's Hospital in Toronto. He is working with a Canadian EDS specialist, two haemotologists, and a mast cell specialist who works with Dr. Castells in Boston. Dr. Vadas is currently developing an initial questionnaire to send out to patients. If anyone would like to participate they can contact me (at
) or Dr. Vadas, and I can add their email address to the group to make sure they receive the questionnaire.
My name is Sarah Leach. As I have mentioned to many of you already, I have spoken on two occasions with a Canadian geneticist, Dr. Alasdair Hunter (Ottawa, Ontario), about the fact that more and more people are being diagnosed with Autonomic Dysfunction (POTS, NMH, etc.), some form of Hereditary Disorder of Connective Tissue such as Ehlers-Danlos Syndrome, and a Mast Cell Disorder of some kind.
I have corresponded with or spoken to several physicians in these various fields; for a summary of these exchanges, please see the POTS thread on the Mastocytosis Society of Canada forum. It is my impression that at least some of the specialists in each area are not overly familiar with the diagnoses outside their area and for this reason may be overlooking information and connections that could be crucial to figuring out what is going on and how they might be able to help us.
At Dr. Hunterís request, I have agreed to collect case reports from people with the triad of diagnoses/conditions listed above. I am calling this effort The Elephant Project, referring to the fable about the blind men who are each describing different parts of an elephant, not realizing it is the same creature. Dr. Hunter has asked that I try to do so in some sort of standardized format, so that commonalities among our medical presentations can be identified. I have told him that this might be difficult, as many people have trouble being diagnosed with these rare conditions for a variety of reasons. I have written a suggested format for collecting the information; the italics are intended to be replaced with your information. Click here to download this Microsoft Word template document. This template is only a suggestion aimed at making a complex situation somewhat comprehensible to physicians who will most likely not be familiar with some of our symptoms and diagnoses; obviously you are free to present your information in whatever format you choose. Dr. Hunter has told me he will also be in contact with Dr. Clair Francomano in Baltimore regarding this project.
Along with objective medical findings, in my case report template I have suggested adding a section outlining your personal experiences dealing with these illnesses. Again, of course this is optional, but my thinking is that since so many of our symptoms are unusual and hidden, many have been overlooked, dismissed or minimized by medical professionals in the past (and in my case at least, by myself as well). If we outline how severely we have been affected by these illnesses, and our fears that our children and other family members will face similar struggles, it may help us communicate how severe this is and how badly we need help with it. I know that many of us have endured very long, difficult histories and have faced unkindness and lack of knowledge and understanding, so it may be a bit of a risk including this part. I am choosing to do so in my case, hoping that our collected experiences may have an impact that could lead to some research and help for ourselves, our relatives, and our children.
If you would like, you can email your completed case report to me (at
) and I will gather them in a package to submit them to Dr. Hunter. Alternatively, if you would like to keep your medical information private, please forward them to:
Dr. Alasdair Hunter
c/o Heather Hare, Genetic Counsellor
Sudbury Regional Hospital, Genetic Counselling Services
865 Regent Street South
Sudbury, Ontario, Canada
If you think we should be doing anything differently, or if you have anything to add or suggest with regard to any of this, please let me know. My hope is that we can make doctors and researchers in the various fields aware that there are a number of patients out there with these overlapping diagnoses, and that to some degree at least, they may be looking at different parts of the same phenomenon. I hope that the above explains things adequately, but in any case, please contact me if you have any questions or concerns. I will certainly let you know if and when I find out any more information that might help us.
P.S. I have noticed that occasionally emails sent to or from my email address seem to disappear. If you expect to hear from me and do not, please try again or PM me. When I receive a case report I will send you an email confirming its receipt.