A letter from the
Executive Director:
An event has occurred that many
of us have been dreaming about. The gene that causes IP
has been isolated. I would like to elaborate on how
this remarkable achievement came about.
In the Fall of 1994 a baby girl covered with blisters was
born into my extended family. She was misdiagnosed with an
infectious disease, treated aggressively with incorrect
medication, and was looked after by parents who were
emotionally devastated. It took 4 more months to get a
correct diagnosis. Finding accurate information was
extremely difficult, finding a support group impossible. I
made a promise to that baby that when she was old enough to
have her own children, the mysteries of IP will have been
uncovered, and she would not have to suffer the experience
of her parents. I began by creating the National
Incontinentia Pigmenti Foundation Inc.
With the identification of the gene, half of my promise has
been realized. It would not have been possible for one
person alone to accomplish the goals that I set for the
Foundation. I would therefore like to acknowledge all those
who helped me make this promise come true. To simply say
thank you is hopelessly inadequate. The lives of so many
people will be profoundly altered by this discovery.
I will begin with the International IP Research
Consortium (IIPRC). A list of the members is on
this site. This group of truly remarkable people worked
together in a unique collaboration. Many consortiums exist,
only to fall apart through competitiveness, lack of
cooperation, and petty antagonisms. But the IIPRC is
outstanding in several ways. Its members are a group from
different educations, backgrounds, different nationaltities
(7), and disciplines, who have bridged the multiple
geographic, language, and intellectual barriers to work on
one focussed problem: the genetic nature and cause of IP.
They question each other respectfully, each accepting the
challenge of his or her work assignment with equanimity and
humor. For years the IIPRC met over a weekend every six
months, many traveling thousands of miles. In between
meetings there was always a flurry of e-mails sharing
information, theories, results, etc. Many dead-end paths
were encountered along the way, disappointing results taken
in stride, theories that didn't pan out, etc. Through all
this not one person ever thought or spoke of giving up. All
those who benefit from their extraordinary efforts and
eventual success can never know the full extent of their
dedication.
The second group, which is vital to this effort, are those
who participated in the research. The adults with IP,
parents, children and extended family members who agreed to
share clinical information and send samples of their blood
to the consortium lab nearest them, were invaluable. No
research could have gone forward without being able to
examine and study this group.
Another vital component is money. How do we express
adequately our gratitude to those who have contributed
financially, or who have assisted in raising funds, thereby
having made the above achievements possible. The Foundation
funds its own expenses which are becoming considerable,
even though no salaries or rents is paid. There are the
costs of the telephone, printing, postage, etc. The
Foundation funds researchers in England, France and the
clinical department of the research lab in Texas. It also
pays for many of the expenses of the Consortium meetings
which historically have taken place every six months, but
which now occur more frequently.
It is important to remember that this is only Step One. The
isolation and cloning of the gene for Incontinentia
Pigmenti is a substantial achievement, but is only the
beginning of our understanding the impact on molecular
genetics, molecular and developmental biology, embryology,
and the realistic investment into the understanding of its
roles in brain (retardation and seizures), vision (retinal
vascular development and retinal detachment), skin
(eruptions and scarring), teeth (formation and enamel
development), and immunology (eosinophilia).
There are those who must be thanked who do not fall into
the above groups. Families, Scientific Advisory Council
of IPIF, friends, and countless others who play a
continuing and vital role.
We will all continue to work together till we reach to the
final resolution. And once again, I thank you all for
helping me to keep my promise.
Susanne Bross
Emmerich