March 2005 Archives
"Federico Reyes Heroles
Roberto Kretschmer
.. una auténtica lumbrera..
Había sin embargo una actividad de la cual hablaba poco. Me refiero a su investigación. Porque ese exitosísimo pediatra dedicaba todas sus mañanas a la investigación de punta. Él mismo puso límites a la consulta de la cual vivía para poder así hacer ciencia. De allí el rigor científico que gobernaba su mente. Había que preguntarle expresamente sobre los avances para que entonces cambiara de actitud y con un rictus de seriedad pesada describiera lo conseguido. Conocedor de las dificultades de su empresa encaminada hasta donde entiendo a la persecución de un potente desinflamatorio, era muy discreto al respecto.
Que bien escrito esta este editorial. En mi caso hablo mucho de su investigacion. El potente desinflamatorio resultó tener relacion con NEMO.
Editorial completo via Reforma aqui.
Me acaban de informar que el Doctor Roberto Kretschmer murió el día de hoy a las 5:45 am.
El Dr. Kretschmer era nuestro Capitán, así nos lo dijo él: "Yo soy su Capitán y vamos a sacar adelante a éste niño".
Le salvó la vida a Andy en varias ocasiones y en el camino me dió a mí varias e importantes lecciones. El Dr. Kretschmer, sin duda el mejor inmunólogo de México.
"Hope for the best but act for the worst"
Recuerdo muy bien el primer día que llegamos a su consultorio, todos los diplomas y libros sobre inmunología. "Hilda, el expediente!!", mientras presionaba el timbre para llamar a su enfermera.
La forma en que analizaba a Andy mientras nos explicaba las probables causas de esa fiebre. "Hilda, tómale la temperatura a este niño!", mientras tocaba el timbre de nuevo. Luego se sentaba en su escritorio y tomaba una llamada, se reclinaba en su silla y cerraba los ojos mientras daba sus recomendaciones para atender a alguno de sus niños.
"No hay nada como el mercurio para medir la temperatura", nos decía mientras escribía en el expediente. Hacía una pausa y por medio de diagramas me dió las primeras explicaciones acerca del sistema inmunológico. Y esas explicaciones son las que me ayudaron a conocer como cuidar a Andy.
"Don't shoot from the hip"
La manera en la que presentaba a Andy con sus colegas era de admirarse, no perdía ningún detalle. Y en especial la manera en la que presentó a Andy con el Dr. Jordan Orange le ayudó a conocer el avance que teníamos en la busqueda de su diagnóstico.
"When you hear hoofbeats, think of zebras."
Y hasta en jirafas.. Nos ayudó a encontrar el diagnóstico de Andy y a encontrar cómo curarlo. Nos visitaba a partir de la media noche en el hospital porque "es el momento en el que se pueden sentir más solos".
"Absence of proof is not a proof of absence"
"Andy va a salir adelante, se lo merece él y se lo merecen ustedes", me dijo la última ocasión que platiqué con él.
Estamos tristes y vamos a extrañar al Dr. Kretschmer.
La última ocasion que lo vió Andy fué en el bautizo de Sofía en Mayo del 2004. He visto a Andy dar muy pocos abrazos a doctores y he visto a muy pocos doctores incarse para darle un abrazo a Andy.
Me quedo con ganas de platicar de nuevo con el Dr. Kretschmer.
Descanse en paz Capitán.
Andrés Treviño
The nuclei of the skin cells would then be inserted into the eggs to create human embryos carrying the genes for the disease and stem cells would be drawn from these embryos.
Researchers hope that by observing the development of stem cells that carry the genes for a specific disease, they will be able to discover new treatments.
This research would make Harvard the first American university to clone human cells for research purposes.
More via Harvard Crimson here.
Marzo 16, 2005
Capitán,
Con gusto le informo que el día de hoy Andy fue a la escuela con un sistema inmunológico nuevo. Y le encanto!!
Quien iba a pensar que éste niño una mutación en en el exon 4 de (NEMO) Nuclear Factor Kappa B Essential Modulator; con más de 600 días en el hospital iba a poder ir a la escuela...
Se lo debemos a nuestro Capitán que destaca entre cientos de médicos e investigadores que hemos conocido en los últimos años.
En varias ocasiones usted me ha llamado "El mejor Papá del mundo". He de confesarle que yo he estado haciendo trampa.. Lo que he estado haciendo es siguiendo su ejemplo.. Confieso que lo que me a mí me ha mantenido luchando por Andy es todo lo que el Capitán me ha enseñado. Tengo muy presentes las frases que tan acertadamente me decía cuando llegabamos a su consultorio tratando de darle una respuesta a esas fiebres:
"Absence of proof is not a proof of abscence"
"Don't shoot from the hip"
"Think of zebras"
...entre otras.
Andy, Sofía, Paulina y Andrés estamos con usted desde Boston.
Y en especial estamos con usted a partir de las 2:00 AM porque es el momento en el que se puede sentir más solo y cuando mejor podemos platicar en el hospital.
Estamos atentos a su recuperación.
Andrés Treviño
MPs say lift ban on reproductive human cloning; Antony Barnett, public affairs editor; Sunday March 20, 2005; The Observer.
..suggestion that research should be allowed in this contentious area is just one of several likely to create heated debate. The report suggests a radical rethink of existing law. 'Parents, rather than the state, must be assumed to be the right decision-makers for their families,' it argues.
More via The Guardian here.
And here it is!
ANDY'S WRISTBAND
'LIVE IMMUNE - got stem cells? - andy.org.mx'
The idea: Sell the wristbands and ask donors to send pictures via email wearing the wristbands. The pictures will be uploaded to andy.org.mx. The most original picture wins a prize (could be a trip somewhere).
Funds will be used to pay for Andy's medical treatment expenses and to help other Children with primary immune deficiency.
A question for my 2 readers:
The Guidelines on PGD have been approved by the New Zealand Minister of Health.
Very good definitions of PGD in the article.
More here.
When Andy was little he used to scream when The Clown Unit was near, he would panic if they dared step into his room. Now every time we see The Clown Unit Andy gets excited, they're best friends and they really make him laugh.
Here's part of an article from the Boston Globe and below some pictures of The Clown Unit when they came into Andy's room while he was in the hospital.
These doctors are real clowns
With red noses and huge shoes, they apply therapeutic humor; By Avi Steinberg, Globe Correspondent; March 6, 2005
The energy level in the surgery admitting area of Children's Hospital Boston is low. Tense parents are whispering to their children; young siblings wander about aimlessly.
A man in a white lab coat strides into the room and makes an announcement.
''Excuse me, did somebody lose their underwear?"
The man -- who wears goofy oversized shoes, a red nose, and a device around his neck that appears to be a hybrid between a stethoscope and a toilet plunger -- holds up a pair of black boxer shorts large enough to allow three or four children to fit their entire bodies inside. Before long, laughing children and smiling parents are playing peek-a-boo with doctors Gonzo and Gracie.
The Clown Care Unit has arrived. Later, when his nose is off, Dr. Gonzo -- who is Robb Preskins, a veteran clown and supervisor of the hospital's ''CCU," as it's called -- gets serious.
''We're there to help give the kids and their families a chance to feel completely normal for a moment," says Preskins. ''Goofing off is a kid's natural state of being."
More here.
More about gene therapy..
Interesting data:
By GARDINER HARRIS; Published: March 3, 2005
The French study was once hailed as one of the first breakthroughs in gene therapy: 10 children suffering from a rare immune disorder were largely cured. But three of those children have since developed leukemia, and one of the three has died.
For years, gene therapy was heralded as a technology that would soon yield blockbuster drug innovations. The National Institutes of Health issued thousands of grants to pursue the research, hundreds of patents have been granted on the technology, and more than 150 biotechnology companies have been created in the last 15 years to exploit it. In 1997 alone, the peak year, 24 such companies were created, said Dr. Sheldon Krimsky, a professor at Tufts University.
Gene therapy's disappointing history is mirrored in other medical technologies once highly promoted, like high-throughput chemical screening and the decoding of the human genome. Reaping the fruits of such technological advances is taking much longer than executives in biotechnology and pharmaceuticals once suggested. As a result, the industries are suffering a drought of new products and are trying to explain why their laboratories have burned through so much money in recent years with so little to show for it.
Many of the companies established since 1990 to pursue gene therapy work have since shifted to other technologies. Cell Genesys, in South San Francisco, Calif., once focused entirely on gene therapy, but in 2001 it spun off much such research into privately held Ceregene, based in San Diego.
"We're just a cancer company now," said Ina Cu, a Cell Genesys spokeswoman.
Despite the problems, gene therapy is still routinely heralded as the next big thing, and the field's researchers get a bit defensive when discussing the many problems that have plagued it. But several top researchers agreed in interviews that much of the early optimism had been wrongheaded and that marketable cures were years away.
Read all the article @ NY Times here.
Dr. Raif Geha, (website) Chief of Immunology at Children's Hospital Boston told me about 2 weeks ago that ten more years are needed to make gene therapy available and once he does that he will move to the caribbean..
I contacted Dr. Alain Fischer once, read message here. And his response here.
FDA Halts Gene Therapy Experiments; By Rick Weiss, Washington Post Staff Writer, Thursday, March 3, 2005; 2:20 PM
The Food and Drug Administration has suspended several U.S. gene therapy experiments after learning that a third child who underwent treatment in France has developed cancer as a result, a development that has cast a pall over the struggling research field.
The events are the latest in a series of setbacks for a field that a decade ago seemed poised to revolutionize medicine by replacing defective genes with healthy ones, fixing the molecular underpinnings of disease instead of simply treating its symptoms.
After thousands of efforts, the treatments appear to have cured only about a dozen patients, all of them children in Europe who were born with a severe immune system disorder. With three of those children now having developed cancer from the treatments and one recently dying of it, even the field's most ardent supporters are discouraged.
"We want to continue, but of course there is a safety issue," said Alain Fischer of the Necker Hospital in Paris, the leader of the French study.
Read the complete article @ the Washington Post here.
Extreme Scientific Measures Taken To Save One Child Fails, by Barbara Gibbs
There's heart breaking news to report about the birth of a baby conceived to save his brother's life. He is not perfect bone marrow match for his 5-year-old brother Henry.
..
Harper Moore is one of only a few so-called "designer babies" ever born. Cutting edge medical science almost guaranteed Harper would be a perfect bone marrow match to his older brother Henry – a very sick Duke patient. But apparently, medical science failed.
When Harper Grey Moore came into this world, everyone called him not just any miracle baby, his father called him a special blessing.
"This is a day we've prayed for 5-years."
It took two tries to have Harper, but one week after his birth at Duke, the Moore's receive more heart breaking news from Dr. Joanne Kurtzburg, who could perform Henry's transplant. Harper is not a match.
Dr. Kurtzburg says there's still hope. "I feel good about Henry. He's in good shape, healthy, young enough, has a good donor… take action, now and not to wait 5 or 10 years to see what will happen - cause I think he would have complications that would make the transplant fail."
Finding out Harper wasn't a match was just as devastating as the day they found out Henry was sick.
Henry's father, Patrick said, "Yesterday was the hardest day of my life."
His wife, Angela added, "It's horrible. It's terrible. You want everything to be great and work out, and it might. Our lives may be normal in a year. Our path may be different than we were taking."
No one knows for sure why it didn't work - besides the failure rate is less than 1%. Doctors say when one cell from an embryo has its DNA broken down and amplified, it's such a small sample that mistakes can be made. Even if a match is found, sometimes the wrong embryo can be implanted.
Patrick says the entire process has been an emotional rollercoaster.
"Until I came home and held Harper, I was able to say you know what… we're still incredibly fortunate. We have this beautiful, healthy baby we prayed for. We feel God has another plan for us. We'll never give up our fight to save Henry." Because saving Henry, saves them all.
Duke doctors have located unrelated cord blood for Henry. While it's not perfect, it's still a very good match. The Moore's are considering good ahead with the transplant this summer.
Read the complete article here.
