MAGOLA PÉREZ T. - Radio Broadcaster - From Barranquilla, Colombia
Translation into English: Vanessa Martínez Del Sobral - From México, México
In a chain e-mail, I received an urgent message regarding a little girl called María Claudia, where photographs showed her physical deformities due to a rare and painful disease.
This medical condition has no cure and my idea was to learn more about it: it manifests in the growth of bone tissue in any part of the body: (muscle, tendons, etc.), and unfortunately it is inoperable because even more bone tissue appears after removal.
The e-mail attached to the photos I received did not request money. It only asked that I forward it to as many people as possible.
Since I did not have this family's contact information, I asked my good friend and collaborator, Alvaro Serrano Duarte, Director of Correvedile, to allow us the use of his widely known web site www.correvedile.com, in order to publish my internet research regarding this disease, as well as the photographs I received with the original request for help.
Because the e-mail did not contain specific information, we have asked the people from the IFOP web site for permission to use their data regarding this disease, especially its symptoms, what is being done to find a cure, and how to initially recognize it.
The e-mail message contained an alarming cry for help:
"I only request that you send this message to all of your contacts because we need to locate three families in order to search for the exact gene, and be able to study it and find relief for these suffering children, who are greatly disabled because their whole body is turning into bone.
María Claudia currently depends on an oxygen tank to breathe, and even though her thoracic cavity won't grow, her internal organs continue to do so, making it impossible for her to breathe because of the lack of space for her organs.
Last week, Canal 5 did a story on her (televised in several countries)."
Another Request
Urgent Request to find Multigenerational Families Suffering from FOP
I direct myself to you with an urgent request. I need your help: I am the Director of an extensive international research group that is desperately seeking the genetic cause of a rare and devastating disease which ossifies the skeletal muscles of the body—it turns muscle into bone. This condition is called Fybrodysplasia (miositis) Ossificans Pregressiva (FOP).
Children afflicted by FOP appear normal at birth except for a malformation of the large toes. In their first decade of life, these children develop painful swellings, which resemble tumors. These bumps take over the skeletal muscles and turn them into bone. Eventually, ribbons, plates, small bumps, and flat masses of bone appear—bone begins to replace the skeletal muscles, immobilizing the joints and restricting movement completely.
Any attempt to remove these new bones only induces more explosive and catastrophic growth of bone.
There is no effective treatment for this condition at the moment. Identifying the gene responsible for FOP would give us greater opportunity to create effective treatments and eventually develop a cure.
Our main obstacle in identifying this gene is the lack of extensive multigenerational families afflicted by this condition.
This is easy to understand given the fact that FOP is an extremely disabling disease, so most people who have it do not have children. Currently, we have found a very small number of multigenerational families throughout the world, and we haven't found enough of them to determine the exact location of the gene in human chromosomes.
It is because of this that I request your kind help. If you know of birth parents who have FOP, and have passed on the condition to their child, I would greatly appreciate your letting me know. It is extremely important to identify these families and get them to participate in our genetic research program by donating a blood sample for analysis. In finding the FOP gene, we will be better able to know how to treat and prevent the great suffering that accompanies progressive heterotopical ossification.
If you could help us locate these multigenerational families, I would kindly ask that you contact me and join us in resolving this terrible problem. Any new family with FOP could provide us with vital clues and help us solve an extremely grave problem.
I thank you for your kind and urgent attention to this matter.
Sincerely,
Frederick S. Kaplan, M.D.
Isaac & Rose Nassau Professor of
Orthopaedic Molecular Medicine
and Chief, Division of Metabolic Bone Diseases
and Molecular Medicine
Department of Orthopaedic Surgery
Hospital of the University of Pennsylvania
3400 Spruce Street, 2 Silverstein
Philadelphia, PA 19104-4283
215-349-8727/8726, Fax:215-349-5928
Frederick.Kaplan@uphs.upenn.edu
FOP Website: www.ifopa.org
What is FOP?
Fibrodisplasia Progressive Osificante is a rare genetic disorder that causes bone to form in muscles, ligaments, tendons, and other connective tissue. Bridges of extra bone form through joints, progressively restricting movement. With FOP, the body not only produces too much bone, but also an extra skeleton which encases the body and keeps the person in a cage of bones, to which there is no key.
Unraveling the Genetic Code
Investigating FOP is like doing detective work. The main object is to find the right trajectory through a maze that will lead researchers to identify the damaged gene that induces an over-production of a protein responsible for creating bone in people with FOP.
Research into this rare disease might also help those people suffering from other, more common conditions that have to do with bones, such as osteoporosis, arthritis, post-amputation treatments, spinal chord injuries, and even certain heart valve disorders.
As with other genetic conditions, researching FOP implies discovering and fixing a defective genetic switch. However, FOP is unique. No other conditions exist where one type of tissue is transformed into another in the way FOP turns muscle into bone. Despite this, the research team has made significant advances in locating this evasive gene, bringing much needed hope to the FOP community.
Unfortunately, there are several difficulties which hinder research and delay the development of effective treatments:
- Small number of multigenerational families afflicted by FOP
- Limited amount of tissue samples
- Limited knowledge
- Scarce financial resources
- Lack of an animal genetic model
Locating this elusive gene is possible, but the course of this disease is relentless. New discoveries and treatments are urgently needed before extra bones immobilize another person with FOP.
The IFOPA is dedicated to finding a cure.
COMMENTS
If you wish to leave a comment regarding this article, please fill the information box below.
Carmen Rosa Pinilla Díaz From Zapatoca, Colombia
|
Sacred virgin!, he/she had not seen up to now something similar; definitively the road that plays us to travel to reach the threshold of the hope, is completely full with thorns and of thistles; for that reason, when somebody complains about their luck, look around and realize that while we complain, many times of insignificant things, there are people, our siblings that situations painful verdaderamete live; a blessing of God for those children that have to take the life tied to such a difficult world, but, only He, in their infinite mercy, knows why he makes the things, as them ago. That God blesses them and it grants them the necessary force so that they can live with love and dignity the luck so difficult that he played them to live.
Send your Comment |
 |
