Genetic Test Results

Last week Wednesday I received a voicemail from Dr. Dahl, the Infectious Disease Specialist, that Eloise's genetic test results had come back.  The message said that "The results were not normal but not abnormal and that the particular Periodic Fever Syndrome that we may be looking at is not something she specializes in."  She also said that what Elie has is not infectious in nature but an Immune System Response. Dr. Dahl specializes in infection diseases so this would not be something she would be specialized in.  She went on to say that she is going to refer us to a Rheumatologist who would specialize in this particular fever syndrome.  The doctor we are being referred to is Dr. James Birmingham at the 35 Michigan Building which is the same building Dr. Dahl is in and is attached to the Helen DeVos Children's Hospital.  I will admit that I was very confused at the time of listening to the message and also talking with the nurse from Dr. Dahl's office.  I requested a copy of the test results which arrived yesterday.  After reading this through I know have a better understanding of where we are at.  To directly quote the report "No definitive disease-associated mutations were identified in this analysis of 7 periodic fever genes."  There was a variant (mutation) found in the gene TNFRSF1A.  The interpretation of the mutation stated "the variant is a relatively common missence change observed in the TNFESF1A gene.  It has been identified in individuals from many different ethnic backgrounds who displayed a milder or atypical clinical presentation of TRAPS.  However, is also has been observed in the unaffected control population.  In one study, approximately 1% of unaffected controls carried the variant and in a more recent study 6% of controls were found to carry this change.  Therefore, it is currently unclear is the variant is a disease-causing mutation with low penetration and mild symptoms, or a benign polymorphism due to its high frequency in the control population.  As this molecular testing is essentially inconclusive, the diagnosis of TRAPS in this individual is best made clinically."

So from what I understand of all of this is that a mutation in a gene has been found that can be associated with the periodic fever syndrome TRAPS but the mutation does not always cause the syndrome and that a doctor needs to make the diagnosis based on her symptoms.

I called the Rheumatology office the other day to see about an appointment and they said they had her referral in and would send it to be reviewed by the doctor and then they would call to make an appointment.  They also said they are currently scheduling out to the end of the summer but they due have a cancellation list.  I guess we will just have to wait and see what they say when they call.  Eloise has not had an episode since the beginning of February.  Today she did wake up with a rash on both arms and red checks but her temp. was only 99.5 and she is eating and drinking and acting normal.  Not sure what the rash is all about but I did take pictures so we can document it to show the doctors.

If you would like to read more about TRAPS go to this website:

http://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-periodic-syndrome