Spokane baby needs bone marrow transplant

If you want to help •A marrow/ blood cell donor drive for 3- month-old Caden Atchley will be held from 10 a.m. to 4 p.m. Saturday in the atrium at Mt. Spokane High School, 6015 E. Mount Spokane Park Drive in Mead. For more information, call the Inland Northwest Blood Center at (509) 232-4492. •To learn more about Caden Atchley’s fight against severe combined immune deficiency syndrome, visit www.caringbridge.org/visit/cadenatchley. An account in Caden’s name has been set up through Bank of America to help the family cover expenses.

Heather Lalley
Staff writer
December 12, 2006

When he was not yet a month old, Caden Atchley came down with pneumonia.

His worried parents, Josh and Melissa, took him to doctors. But weeks went by, and the tiny baby still wasn’t improving.

“The whole family got sick and we all got better, but Caden never got better,” Melissa, 26, says.

Caden still isn’t better.

Just about a month ago, the Spokane family got the terrible news:

Caden was not recovering because he has severe combined immune deficiency syndrome, or SCIDS, a rare disease in which the body lacks a defense system against disease. SCIDS is commonly known as “bubble boy disease,” after a famous case of a boy with the disease who lived for a time in a sealed bubble.

Hours after Caden’s diagnosis, the Atchleys were flown to Seattle Children’s Hospital. They have been in an isolation room there ever since.

“He has good days and bad days,” Melissa says. “He’s definitely a spunky little guy. He’s like a little firecracker. He’s been a trouper from the beginning.”

Since Caden’s body is so prone to infection, his only hope for survival is a bone marrow transplant. A successful transplant would give him an immune system so he could fend off germs. But none of his family members is a match for a bone marrow transplant.

On Saturday, the Inland Northwest Blood Center will host a marrow donor drive at Mt. Spokane High School to help find a match for Caden and other needy patients around the country.

“You could truly be someone’s last hope,” says Laura Oiland, a registered nurse who’s the marrow program supervisor for INBC.

Qualified people attending Saturday’s drive can join the National Marrow Donor Program registry. Registrants must be in good health and between the ages of 18 and 60. After filling out a consent booklet, potential donors will have their mouths swabbed for tissue typing.

Potential donors are asked to pay $20 to join the registry, to help defray the $52 cost of the test. But some grants are available for people in financial need, Oiland says.

If a prospective donor turns out to be a match for Caden or another patient, he or she will undergo blood tests, along with a physical.

Donations are collected either through the hip bone or, more commonly, through the blood.

About 10 percent of potential donors tested each year actually go on to donate, Oiland says.

Since Caden’s mother is part Hispanic, both Caucasian and Hispanic donors are needed at the drive, she says.

“We encourage all ethnic groups to be tested,” she says.

While he waits, Caden is undergoing a new enzyme therapy to try to ramp up his white blood cell levels, his mom, Melissa, says.

The Atchleys also have another son, a 5-year-old, who has stayed home in Spokane to go to kindergarten while his brother is in the hospital. But the boy came to visit for Thanksgiving, Melissa says.

“It was so sad,” she says. “He stood up by Caden’s crib. He touched him by his arm and told him how much he loved him and that he missed him. He knows Caden’s sick and, of course, he couldn’t understand how bad it is.”

Linkback URL: http://www.spokesmanreview.com/tools/story_pf.asp?ID=163938

Stem Cell Therapy Debate Lives On, But Research Continues To Find Effective Applications In Immune And Organ Function

This is an excerpt from:

Stem Cell Therapy Debate Lives On, But Research Continues To Find Effective Applications In Immune And Organ Function

Long-Term Safety and Efficacy of Stem Cell Gene Therapy for ADA-SCID [Abstract #200]

Severe combined immunodeficiency (SCID) is caused by a severe genetic defect often found in newborns. Because the immune system is so severely compromised, exposure to even benign germs can result in serious or life- threatening infections like pneumonia, meningitis, or bloodstream infections. The condition must be diagnosed and treated quickly to prevent serious complications, and doctors continue to struggle with often ineffective treatment options. In this study, a team of Italian researchers found that the use of stem cells may effectively fight SCID caused by a deficiency of the ADA gene (adenosine deaminase), which is critical for the immune system to function properly.

Previous research has shown that immune function has improved when patients were given an autologous hematopoietic stem cell transplant (HSC), from the body’s own bone marrow, combined with the ADA gene. The current phase I/II study treated eight ADA-SCID children (ages 7-67 months) with HSC conditioned with busulfan, a treatment that helps with the engraftment process. After following patients for an average of three years, researchers have seen no adverse events related to the gene transfer. In fact, they have observed that the stem cells have successfully integrated into the patients’ marrow, giving rise to genetically repaired blood cells.

In the six children with a follow-up of more than one year, white blood cell counts progressively increased and T-cell functions normalized. In addition, tests found the presence of antigen-specific antibodies (proteins that help the immune system identify and fight bacteria and viruses). In five patients, levels were high enough to discontinue supplemental antibody treatment.

“We feel that these data confirm the safety and efficacy of gene therapy in improving immune and metabolic function in children diagnosed with this form of severe combined immunodeficiency,” said Alessandro Aiuti, MD, of the San Raffaele Telethon Institute for Gene Therapy in Italy and lead author of the study with Maria Grazia Roncarolo, MD. “This may represent a viable solution to reduce the mortality rates associated with SCID in newborns.”

At the conclusion of the study, all participants were healthy, with no severe infections, up to six years from the treatment. Researchers noted that because the ADA genes had sustained activity in the blood cells, the children’s growth and development has continued to improve.

The treatment is funded by the Italian non-profit Telethon Foundation, a major charity that raises and distributes funds in Italy for biomedical research on genetic diseases, and has recently attained Orphan Drug status from the European Medicines Agency (EMEA).

Linkback URL: http://www.medicalnewstoday.com/medicalnews.php?newsid=58621&nfid=rssfeeds

Gene therapy—fiction or reality?

Gene therapy—fiction or reality?

They are the basis of life and hold the keys to unlock the code to counter genetic diseases. Vanessa Mahapatra charts the successes and failures of gene therapy and explores its potential in checking various gene-linked disorders.

Genes have since long been considered the units of all life within our body. But now, scientists are viewing them as the root cause of innumerable disorders. Thus gene therapy comes into existence heralding an answer to numerous genetic woes. “Gene therapy can be applied to any disease where you can identify that some faulty gene causes the disease. There are several diseases like that,” opines Srikumar Suryanarayan, President, R&D, Biocon. Gene therapy follows a process whereby a functional gene replaces an absent or faulty gene, resulting in the restoration of protein action, consequently eliminating the root cause of the disease. Simple as it sounds, gene therapy has been under the limelight for both its notable successes and concurrent failures.

Memoirs of Genes

It all began with W French Anderson, the father of gene therapy, who evolved the concept in a big way leading to the first clinical trial on gene therapy in 1990. Gene therapy was executed on two girls suffering from adenosine deaminase deficiency (ADA), a form of Severe Combined Immunodeficiency Syndrome (SCID). The disease had plagued the immune system of both the girls making them susceptible to repeated infections. Their bodies had extremely low levels of specialised white blood cells, also known as T cells, which are the immune system’s instruments against invading organisms.

Scientists considered that replacing the defective ADA gene would trigger the production of ADA, creating a permanent cure. Therefore, initiating gene therapy on these patients, researchers induced the T cells from their blood to replicate in culture. ADA-bearing retroviral vectors were then transferred into the cultured T cells, which in turn integrated into the DNA and transferred the gene. The enhanced T cells were then reintroduced into the girls. To the researcher’s delight, reported results were remarkable as their immune functions improved progressively. However, one of the patients had to be subjected to continuous treatment as the genetically treated WBCs work for only a few months. She therefore has to be given repeated transfusion of blood containing the ADA gene. The results of the second girl were welcomed more enthusiastically as after a review in 1995 and till date, it has been observed that the other patient has white blood cells bearing copies of the replaced ADA gene.

This optimistic chapter is only one side of the gene therapy story. For this positive, there have been many negatives. There have been quite a few retreats in the research process that have caused caution in proceeding clinical trials. A decade after the first clinical trial, there was a French clinical trial involving 17 children who were suffering with SCID deficiency caused by a defective gamma C gene. Typically called ‘bubble-babies’, these children unlike the other two girls, didn’t have an immune system at all. To counter this, researchers introduced the required gamma C gene into their system with the help of a viral vector. As with the first trial, the results of this clinical trial too were positive, but unfortunately only for the first couple of years. In 2002 one of the children involved in the trial developed leukaemia, followed by another in 2003 and one in 2005. The reason—correct gene reached the wrong target. A general misconception with gene therapy is that the functional gene that is fed into the system is exchanged for the dysfunctional one. However, contrary to this belief the accurate gene is generally not swapped for the defective gene. Instead it just replaces it within the system by lodging itself somewhere in the chromosome and still being effective. “So it is a functional replacement rather than a physical replacement,” explains G Padmanaban, Distinguished Biologist, Indian Institute of Science. In this case, the introduced gene lodged itself with another gene called LMO2, a proto-oncogene that can cause cancer. This gene then activated LMO2 resulting in the augmentation of leukaemia. According to Padmanaban, “This may not happen in other diseases. But it is a setback to the field.”

In 1999 too, gene therapy suffered a major hurdle with the death of 18-year-old Jesse Gelsinger. Jesse was participating in a gene therapy trial for ornithine transcarboxylase deficiency (OTCD). Instead of being cured he died from multiple organ failures, four days after the onset of the treatment. A severe immune response to the adenovirus carrier is believed to have triggered his death. Till date this factor is a major hurdle in all gene therapy studies and it has led to apprehensions in ongoing trials. Padmanaban remarks, “Gene therapy is an area that goes one step forward and two step backwards.”
How it works

In most gene therapy studies, a normal gene is inserted into the genome to replace an abnormal or defective gene. A carrier molecule called a vector is generally used to deliver the gene into the target cells, the most commonly used vector being a virus or viral vector. The vector is introduced into the target cells following which, it unloads the gene into the cell, hence restoring the generation of the functional protein. The rectified protein action then brings the cell to its normal state and the cause of the disease is eliminated. This is the general procedure for gene therapy. Apart from this, there are a variety of other methods of gene therapy, for instance:

* An abnormal gene could be swapped instead of being replaced functionally, through homologous recombination
* The abnormal gene could be repaired through selective reverse mutation
* The regulation of a gene could be altered
* The expression of a particular gene could be repressed

These procedures are still being studied under clinical trials. Another question in mind is the delivery of the gene to the desired target, for which many options have come to the fore. Viruses have evolved a way of encapsulating and delivering genes to human cells in a pathogenic manner. Taking advantage of this capability, scientists have conveniently been using viruses as the preferred option of gene delivery. Viral vectors like retroviruses, adenoviruses, adeno-associated viruses and hepes simplex viruses form the typical option in clinical trials, depending on the type of sites they target.

Besides virus mediated approaches, another simple method is the direct introduction of therapeutic DNA into the target cells. However, this effort has its limitations as it can only be used with certain tissues and requires large amounts of DNA. Yet another delivery system is through liposome delivery. A liposome carrying the required DNA is capable of passing through the target cell’s membrane. A novel approach called electroporation has recently held researchers interests for gene delivery. According to this technique, a gene can be pushed into a cell through the application of an electric pulse that forms pores in the cell membrane, creating a way for the gene to enter. The seemingly simple methods are largely theoretical and are still under experimentation.

Hurdles

It has been more than two decades since the study of gene therapy commenced. Yet it hasn’t been approved as a clinical practice. There are many factors that have raised eyebrows and kept gene therapy from becoming a conclusive and absolutely effective treatment for countering genetic diseases. Apart from the obvious failures there are many inherent loopholes that hindered any kind of progress. One of the factors is the short-lived nature of gene therapy, which was observed in the first clinical trial. If the therapeutic DNA that is introduced into the cell does not remain functional for a long time, then all efforts are nullified. In addition to this, the cells containing it must be sustainable before gene therapy can become a permanent cure with long-term benefits; else, most patients under-going it will have to be subjected to multiple rounds of treatment.

An additional hindrance, common to such therapies that involve the introduction of a foreign body, is the response generated by the immune system in opposition to the alien substance. Suryanarayan says, “One major side effect for gene therapy is immunogenic reactions, which caused several trials to halt.” The insertion of a virus into the body could stimulate intense immune response, something that caused Jesse Gelsinger’s death in 1999. Furthermore, this would raise a question to the acceptability of the vector in the body, deterring an important method of gene delivery. Viruses also pose other potential problem to the host in terms of toxicity, inflammatory responses, gene regulation and targeting issues. A virus can lodge itself at a wrong site or may alter the regulation of a gene, creating unwanted side-effects. “We still cannot direct a gene to a particular site. That is physically impossible till now,” says Padmanaban. He believes that the answer to targeting issues lies in a natural phenomenon, homologous recombination. He says that this issue can be countered if there could be some strategies by which one could force the system to undergo homologous recombination.

Last but not the least, gene therapy cannot be developed for multigene disorders. So far, disorders arising from mutations or defects of a single gene have been the best candidates for gene therapy. Unfortunately, some of the most commonly occurring diseases such as heart diseases, high blood pressure, Alzheimer’s, arthritis and diabetes are caused by the combined effects of variations in multiple genes. Treating such diseases would add to the existing complications.

A new approach

Gene therapy is being tested in various forms and for various diseases like SCID, Huntington’s, Parkinson’s. Lesch-Nyhan syndrome and phenylketonuria, among many others. However, scientists have found that this therapy holds a lot of promise for cancer as the treatment for this disorder involves the prevention of the expression of a gene. This can be achieved through the revolutionary anti-sense mechanism for gene regulation or RNAi, which is another form of gene therapy. Even as the research initiatives progress, newer forms and techniques are coming to the fore. “Despite all the setbacks, there are tremendous numbers of research and clinical trials going on worldwide, especially for cancers. Sixty percent of the trials are in some form of cancers,” says Padmanaban.

Recently researchers have found a new channel to focus their energies upon. This phenomenon is called the DNA vaccine, an alternative form of gene therapy. Suryanarayan observes, “I have recently noticed that people are countering immunogenic reactions by actually using DNA vaccines.” According to this method, instead of delivering the disease-causing gene into the body, one needs to introduce an artificially copied and multiplied gene from the disease-causing pathogen. The pathogen’s gene expression ultimately leads to the synthesis of proteins and hence the natural production of antibodies in the host’s bodies. Padmanaban explains, “Instead of introducing engineered proteins from a malarial or influenza parasite, I can introduce the gene itself. This is a DNA vaccine.” A vaccine of this sort would usher a life long immune protection. Since, gene therapy hosted many challenges, researchers at IIS turned to this newfound method. Prof Rangarajan has already developed a DNA vaccine for rabies, which has proved positive. This has now been transferred to the Indian Immunological Institute in Hyderabad for the final stages of trial.

What lies beyond

Though clinical trials are on across the globe, not much work is being done in gene therapy in India. Only Tata Cancer has initiated gene therapy studies specifically for oral cancer. “One of the problems that drug companies in India face is that the regulatory framework and the exposure level of our regulators is still not geared up to international standards so as to easily allow researchers in India to do cutting edge science, which involves taking some risk, balanced with potential benefit to patients and society,” remarks Suryanarayan. “Gene therapy still has some risk associated with it and trials will have to be approved after a lot of scientific consideration,” he adds.

Hundreds of clinical trials are going on all over the world for testing potential methods of developing effective gene-transfer strategies, tailoring them to the dynamics of various cells and tissues, maintaining long-term cell survival and establishing reliable gene expression. The road to the development of gene therapy has been rocky and fraught with controversy. “Yet many researchers still continue work because it has got promise for a permanent cure for certain diseases,” comments Suryanarayan. “It will happen very gradually. But as one of the major alternatives to cure genetic diseases, it is very encouraging,” he adds. Only further research can unravel the secrets to out do the complications and develop the therapy into a miraculous remedy. Suryanarayan stresses on the need to continue studies despite the roadblocks and says, “It hasn’t been a complete disaster. People will not understand how to develop it until they move forward.”

WEB LINK – http://www.expresspharmaonline.com/20061215/research01.shtml

Stem Cell Therapy Debate Lives On

Stem Cell Therapy Debate Lives On, but Research Continues to Find Effective Applications in Immune and Organ Function
Sunday December 10, 10:00 am ET

ORLANDO, Fla., Dec. 10 /PRNewswire/ — While the debate over the ethical implications of stem cell research continues to embroil medical and political communities, researchers are successfully demonstrating the therapeutic value of human stem cells in a wide variety of diseases. Three studies being presented today at the 48th Annual Meeting of the American Society of Hematology (ASH(TM)) suggest that the use of stem cells may improve the treatment of life-threatening diseases while simultaneously decreasing complications from therapy.

“We know that stem cells may be the key to developing more effective and less toxic therapies to fight a host of diseases in the future,” said Stephen Emerson, MD, PhD, of the University of Pennsylvania, Philadelphia. “While we are working together to determine the best way to extract these cells without causing any human harm, continued research — like the studies presented here — offers a significant benefit by identifying the many possible applications of this therapy.”

Several of the studies being presented review stem cell therapy in relation to the transplantation process, which can result in a variety of complications based on the donor’s relation to the recipient. The outcomes of related and unrelated donor cell transplants depend heavily on the degree of human leukocyte antigen (HLA) matching between the transplant recipient and the donor. Matching HLA is extremely important to successful engraftment, frequency and severity of graft-versus-host disease (GVHD), and overall survival post-transplant. A haploidentical transplant uses cells from a relative who is not HLA-matched but who has common related genes with the recipient, including parents and sometimes siblings. For patients with an urgent transplant need and without identical HLA-matched relatives, a haploidentical match is often the next best option.

Mesenchymal Stem Cells for Treatment of Severe Acute Graft-Versus-Host Disease [Abstract #753]

Research in stem cell therapy has expanded to a variety of diseases as researchers discover the value of human stem cells in treating illnesses like cancer and heart disease. In this study, a team of researchers from Sweden examined the value of stem cell therapy for severe graft-versus-host disease (GVHD), a major complication of blood transplants that replace damaged cells due to leukemia and other disorders. During successful transplants, the donated cells engraft or implant within the patient’s bone marrow, where they grow and provide a new source of blood and immune cells. GVHD occurs when T- cells from the donor (the graft) respond to the host cells in the patient’s body as foreign and attack them.

A total of 40 patients with severe (grades III-IV) acute GVHD were given varying doses of therapy with mesenchymal stem cells (MSC), derived from bone marrow: one dose (19 patients), two doses (19 patients), three doses (2 patients), or five doses (2 patients). The stem cells were donated from HLA- identical sibling donors (5), haploidentical donors (19), and HLA-mismatched donors (41).

The results of the trial therapy were successful overall, as 19 patients experienced a complete response and nine additional patients showed some improvement. The disease stabilized in four patients but did not improve. In seven patients the treatment did not provoke a response, and one patient was not evaluated due to short-term participation. No side effects were seen after the MSC infusions. The team has continued to follow up with patients (up to 3.5 years); of the 21 surviving patients, nine have chronic GVHD, one patient has recurrent leukemia, and one has de novo AML.

“Based on the results of this study, we are optimistic that mesenchymal stem cells do in fact have measurable value in repairing human tissues,” said Katarina LeBlanc, MD, PhD, of the Karolinska University Hospital Huddinge, Stockholm, Sweden, and lead author of the study. “This therapy should be further explored in randomized trials as an effective and safe way to treat severe acute GVHD.”

Offering explanation for the possible value of MSCs in treating GVHD, researchers noted that MSCs derived from adult bone marrow have the capacity to differentiate into several types of mesenchymal tissue and are proven to inhibit T-cell alloreactivity in vitro. Therefore, the disease characteristic of attacking the host body’s cells is blocked by the injection of these stem cells.

Long-Term Safety and Efficacy of Stem Cell Gene Therapy for ADA-SCID [Abstract #200]

Severe combined immunodeficiency (SCID) is caused by a severe genetic defect often found in newborns. Because the immune system is so severely compromised, exposure to even benign germs can result in serious or life- threatening infections like pneumonia, meningitis, or bloodstream infections. The condition must be diagnosed and treated quickly to prevent serious complications, and doctors continue to struggle with often ineffective treatment options. In this study, a team of Italian researchers found that the use of stem cells may effectively fight SCID caused by a deficiency of the ADA gene (adenosine deaminase), which is critical for the immune system to function properly.

Previous research has shown that immune function has improved when patients were given an autologous hematopoietic stem cell transplant (HSC), from the body’s own bone marrow, combined with the ADA gene. The current phase I/II study treated eight ADA-SCID children (ages 7-67 months) with HSC conditioned with busulfan, a treatment that helps with the engraftment process. After following patients for an average of three years, researchers have seen no adverse events related to the gene transfer. In fact, they have observed that the stem cells have successfully integrated into the patients’ marrow, giving rise to genetically repaired blood cells.

In the six children with a follow-up of more than one year, white blood cell counts progressively increased and T-cell functions normalized. In addition, tests found the presence of antigen-specific antibodies (proteins that help the immune system identify and fight bacteria and viruses). In five patients, levels were high enough to discontinue supplemental antibody treatment.

“We feel that these data confirm the safety and efficacy of gene therapy in improving immune and metabolic function in children diagnosed with this form of severe combined immunodeficiency,” said Alessandro Aiuti, MD, of the San Raffaele Telethon Institute for Gene Therapy in Italy and lead author of the study with Maria Grazia Roncarolo, MD. “This may represent a viable solution to reduce the mortality rates associated with SCID in newborns.”

At the conclusion of the study, all participants were healthy, with no severe infections, up to six years from the treatment. Researchers noted that because the ADA genes had sustained activity in the blood cells, the children’s growth and development has continued to improve.

The treatment is funded by the Italian non-profit Telethon Foundation, a major charity that raises and distributes funds in Italy for biomedical research on genetic diseases, and has recently attained Orphan Drug status from the European Medicines Agency (EMEA).

Cord Blood Mesenchymal Stem Cells for Acute Renal Failure Repair [Abstract #282]

As scientists continue to discover new applications for human stem cells, they are targeting diseases with a significant need for more efficacious treatment options. Until recently, pharmacologic therapies for acute renal failure have been generally unsuccessful, so the potential therapeutic value of mesenchymal stem cells (MSCs) is particularly intriguing.

In this study, a team of researchers in Italy obtained MSCs from full-term umbilical cord blood to test their therapeutic value on renal tissue in mice with acute renal failure. The team successfully isolated MSCs from approximately 18 percent of the processed cord blood units, confirming the rate obtained by other stem cell studies. Testing of the MSCs also confirmed certain characteristics that help induce tissue repair, like the development of bone and cartilage.

Ten immunocompromised mice with acute renal failure received either cord blood MSCs or intravenous saline (control) and were evaluated for renal function and histology. Renal tissue was evaluated at day four and assigned a score (0-3) measuring the level of damage.

The MSCs significantly protected the mice from renal function impairment at day four, which was noted by reduced levels of blood urea nitrogen (a waste byproduct caused by kidney malfunction) from 115 mg/dl (saline) to 64 mg/dl (MSCs). Tissue damage was also reduced in the stem cell-treated mice (score of 0.5) compared to saline-treated mice (score of 1.0) as demonstrated by Marina Morigi, PhD, of Mario Negri Institute of Pharmacological Research in Bergamo, Italy, who conducted the in vivo study.

“These preliminary results indicate that human mesenchymal stem cells do exhibit reparative potential in acute renal failure,” said Lorenza Lazzari, PhD, of the Cell Factory, Department of Regenerative Medicine at Fondazione Policlinico in Milano, Italy, and lead author of the study. “With more evidence demonstrating their value in human subjects, the unique therapy of human stem cells may offer patients with renal failure a safer and more effective way to combat the illness.”

This study was sponsored by European Community.

The American Society of Hematology (http://www.hematology.org) is the world’s largest professional society concerned with the causes and treatment of blood disorders. Its mission is to further the understanding, diagnosis, treatment, and prevention of disorders affecting blood, bone marrow, and the immunologic, hemostatic, and vascular systems, by promoting research, clinical care, education, training, and advocacy in hematology.

 

http://biz.yahoo.com/prnews/061210/dcsu006.html?.v=1

 

Child with SCIDS needs help

Child with SCIDS needs help

By Chasity Brown The Daily Sentinel

Published December 8, 2006

Jackson County residents are urged to give a few minutes of their time to try to help a 3-month-old child in need of a bone marrow transplant.

Braxton Campbell Holder, son of Christopher “Camp” Holder and Stacy Robinson Holder of Goodlettsville, Tenn., has been diagnosed with Severe Combined Immunodeficiency Syndrome (SCIDS) in November and is awaiting a bone marrow transplant. SCIDS is more commonly called “The Boy in the Bubble” disease because his body is unable to generate its own immune system. In the 1970s, a made-for-TV movie starring John Travolta highlighted this disease.

Camp and his parents (Braxton’s grandparents), Pam and Fred Rudder Holder, are former residents of Scottsboro, and they still have relatives in the area.

Braxton’s great-aunt Ramona Campbell Collins of Scottsboro is organizing a blood and bone marrow drive at Harbin Ford Motor Co. on Monday, Dec. 11 from 11 a.m. until 6:30 p.m. in hopes of finding a match for the transplant. Blood Assurance will be conducting the drive and asks that anyone interested in being tested contact Ramona Collins at 599-2945 to schedule a convenient time to be tested that day. Walk-ins will also be welcome.

The bone marrow test is very simple, involving only a Q-tip swab of the individual’s mouth. However, Blood Assurance asks that everyone donate a pint of blood to offset the cost of typing the bone marrow. After being tested at this drive, your name would be placed on the National Bone Marrow Donor Program’s registry to be contacted in the future if you match a needed individual. At that time, you would be able to decline if you so choose.

For more information about the actual bone marrow donation procedure, visit the website http://www.marrow.org.

Linkback URL: http://www.thedailysentinel.com/story.lasso?ewcd=bf9db6076bb62469

Baby With Rare Disease Needs Bone Marrow Transplant

Baby With Rare Disease Needs Bone Marrow Transplant

SEATTLE — The family of a 3-month-old Spokane boy who is suffering from a rare immunodeficiency disease is searching for a potential bone marrow donor.

Caden Atchley is being treated at Children’s Hospital in Seattle for Severe Combined Immunodeficiency Syndrome, or SCIDS, a disease that leaves him highly susceptible to infection.

“He can’t even fight off the common cold,” said Melissa Atchley, his mother. “He has absolutely no immune system, so if he was to catch a cold, it could be totally deadly to him.”

Video: Spokane Baby Awaits Bone Marrow Transplant

He cannot survive outside a hospital room without medication and needs a bone marrow transplant.

Doctors said Caden could stay healthy on medication for a while, but a bone marrow transplant is the only thing that will save him.

“People like Caden, in order for them to lead a normal life, in order for them to survive at all they need those bone marrow transplants,” said Dr. Jeff Otjen of Children’s Hospital.

So far, no family members or friends are a match, so the Atchleys are asking everyone to be tested.

“We’re going to find one,” said Josh Atchley, Caden’s father. “Somebody out there’s going to do it.”

Finding that person will be difficult.

“With Caden’s background, with me having a little Hispanic in me, that’s going to make it that much for difficult for Caden to have a match,” said Melissa Atchely.

National Marrow Donor Program National Marrow Donor Program Sites
Inland Northwest Blood Center
Matchmaker Program, for mixed race bone marrow donors

Go to the links above to see how easy it is for you to be tested as a compatible donor — to save a life.

Linkback URL: http://www.kirotv.com/health/10478126/detail.html

Baby afflicted by rare disease

Baby afflicted by rare disease
By Lacee A.C. Martinez
Pacific Daily News
lcmaritnez@ guampdn.com
Maria Hope Diaz will turn 1 on Thursday, but won’t be on island to celebrate the occasion with her extended family.

That’s because Maria Hope is undergoing chemotherapy at the University of California San Francisco Children’s Hospital. Maria Hope is battling a rare immune deficiency called Severe Combined Immunodeficiency, or SCID.

After completing a nine-day regimen of chemotherapy, Maria Hope is expected to undergo a bone marrow transplant Wednesday, California time. It will be her birthday, Guam time, when her family members will celebrate with a fundraiser to help raise awareness about her condition.

Shortly after Maria Hope was diagnosed, the family talked of forming a foundation to raise awareness about the affliction, said Chelsa Muna Brecht, a close relative of the family.

“None of us had even heard about SCID until it happened to us,” Brecht said. “Doctors are saying that a lot of these cases go misdiagnosed. So the primary goal of the fundraiser is to educate the community, God forbid should we ever have to see it again.”

The condition is extremely rare, occurring in 1 in 500,000 to 1 in 1,000,000 people, said Dr. Thomas Shieh, president of the GMH medical staff. Those with SCID have an absence of T cells, which results in B cells not functioning as well, he said.

“These are the cells within our bone marrow that produces antibodies to fight off diseases,” Shieh said.

‘Bubble boy’

It’s commonly referred to as “bubble boy syndrome”, popularized by the 1976 made-for-TV movie, “The Boy in the Plastic Bubble,” starring John Travolta.

Patients before had to live in a germ-free environment using plastic bubbles and suits, Shieh said. Advances in medicine, he said, have allowed doctors to know what SCID is and how to effectively treat the disease.

“The fact is this, it is very rare, and Guam probably would not see another case base on the statistic incidence,” Shieh said.

Felicita Pablo Diaz, Maria Hope’s mother, said her baby was born without complications on Dec. 7 of last year.

Maria Hope developed a cold and mild cough when she was four months old, from which she had difficulty recovering. Weeks later, Maria Hope developed more illnesses, before she was finally admitted to Guam Memorial Hospital.

Her condition worsened when she developed a case of pneumonia that she could barely fight, Diaz said.

The baby had to be flown to St. Luke’s Medical Center in the Philippines for additional treatment and further testing, Diaz said.

By June 30, tests concluded that Maria Hope had SCID. During the next few months, she remained at the hospital, building her strength for the transfer to the San Francisco facility for further treatment.

Since the second week of November, Maria Hope has been at the children’s hospital awaiting the needed bone marrow transplant she will receive from her mother.

“Mommy was the initial choice as the donor,” Diaz said.

Stem cells that produce blood and antibodies are located in bone marrow, Shieh said.

“By replacing the entire bone marrow, we hope that the body takes over this ‘new marrow’ and begins to function normally,” Shieh said.

Strong support

To help offset her treatment costs, Maria Hope’s family initially held fundraisers, including a golf tournament, car washes and exclusive movie reservations at the Micronesia Mall Theaters, Brecht said.

“We didn’t want to ask people to give us money without having something (for them) to take away,” Brecht said.

Diaz hasn’t dismissed the efforts of those closest to her family in their support to help Maria Hope receive the treatment she needs.

“Our families, friends, co-workers and business associates have assisted us in one way or another,” Diaz said. “Through their love, support, and most importantly their prayers, Maria has made it to San Francisco.”

Linkback URL: http://www.guampdn.com/apps/pbcs.dll/article?AID=/20061204/NEWS01/612040302/1002