Family Ed Weekend 2007- Saturday Sessions
Saturday was a busy, jammed-packed day. Here are some brief highlights-
–Maimoona Zariwala gave a talk on PCD genetics. All of the mutations
found so far in PCD are considered “stop” mutations, meaning that they
may be amenable to genetic therapy with some of the new drugs
currently being tested to override stop mutations.
–Amelia Drake (ENT) indicated that nasal washing in the absence of
windows or some other access is probably of little value because the
natural hole or window in the sinuses is tiny. She is going to
publish their (UNC ENT group) findings and best practices for ear and
sinus issues in PCD to counteract the current published info (from the
UK only) that suggests tubes are a bad idea in PCD and recommends
substituting hearing aids. There are actual cases here where ENT docs
are suggesting removing tubes that are working wonderfully because of
the UK publications. The patient group in the US is collectively for
the use of tubes when appropriate in PCD and we were able to make a
strong point that we need something in writing from the experts to
support this experience.
–Johnny Carson talked about another tool in the diagnostic arsenal for
difficult cases. There is a new computer program that analyzes
ciliary beat frequency. In the past, the docs “eyeballed” the ciliary
movement and sometimes this can be very misleading. Johnny showed a
video comparison of three samples. Two appeared to be beating
normally and the other was clearly impaired. Turns out that actually
one of the “normal” appearing videos was from a PCD patient. To the
eye, the beat looked vigorous but on the computer program, it showed a
slow and erratic beat. The data has not been published yet, but
Johnny’s experience appears to show that any beat frequency less then
4 Hz on this computer program is indicative of PCD.
–Peadar Noone gave an excellent talk on end-stage lung disease and
transplant. He went through the decision-making process of when to
consider transplant and provided statistics for post-transplant
success. For now, PCD is lumped into all forms of bronchiectasis. It
is unlikely that the UNOS folks will be willing to separate it out for
us (like they do for CF and Alpha-1), but it might be worth
considering for us to do on our own (collect stats on PCD patients who
are on the list and on post-transplant outcomes). One surprising
thing that Dr Noone said is that in all bronchiectasis, including PCD,
the average age at transplant is in the 40s! Fortunately, that
doesn’t seem to be the case for most of the folks we know.
–In the panel discussion, we asked about evaluations for heterotaxy.
The recommendation for now was that if there are questionable
findings on chest CT (splenic abnormalities, liver position, etc), a
full abdominal CT be done. There is not a push to do full abdominal
CTs in asymptomatic people at this point because of the risk of
radiation exposure. However, there may be requests for research
purposes in the future. At least 6-18% of the PCD population has
heterotaxy–many of them undiagnosed. It’s important to know if you
fall into this category because there is a greatly increased risk
(200X) of heart defect/disease in the heterotaxy cohort.
–Dr Leigh provided copies of the UNC “PCD Action Plan,” a form they give
to their patients at every visit. We revised it for PCD Foundation
use and it will be made available on the website and we’ll email a copy to everyone on our database list. It is used in the pediatric clinic at UNC, so there may be items
missing for more mature patients. However, it is only intended as a
guide to remind physicians to do things like check sputum and PFTs
(you’d be surprised how many don’t). Feel free to add your own
questions to the form.
More detail to follow in the upcoming newsletter