- Elizabeth Larson
- Posted On
Family seeks bone marrow donor for life-saving procedure for baby son
LAKE COUNTY, Calif. – Their young son's diagnosis of having a rare blood disease has launched a local couple on a campaign to raise awareness of the condition and to find a bone marrow donor to help save the child's life.
Last month, Rodd and Kellie Joseph received the kind of devastating news parents fear.
Their baby son, Ryland, has a life-threatening condition called Wiskott-Aldrich Syndrome, and requires a bone marrow transplant.
“Without the bone marrow transplant, Ryland won't live,” said Rodd Joseph.
The couple, both in law enforcement – Rodd is a sergeant with the Clearlake Police Department, Kellie is a detective with the Lake County Sheriff's Office – were already the parents of a young daughter when Ryland arrived last October.
The baby boy, with big expressive eyes, at first appeared healthy and normal, his father said. However, within six weeks of his birth, Ryland began to show signs that something was amiss.
His parents found he had blood in his stool. His pediatrician concluded it was allergic colitis, but after changing his formula, the condition only became worse, Rodd Joseph explained.
Ryland also began to suffer from a severe diaper rash and started showing signs of a breath-holding disorder, which his father said is fairly common.
The Josephs took Ryland to the University of California San Francisco Medical Center, where a neurologist examined the little boy. In the course of the checkup, blood work was done, and the family was referred to a hematologist.
That led to the diagnosis on Feb. 19 of Wiskott-Aldrich Syndrome, Joseph said.
The couple had never heard of the condition before Ryland was diagnosed, and there were no known instances of it in their families.
Despite being urged by the doctor not to look the disease up on the Internet, the worried parents did just that.
The disease causes a mutation in the X chromosome and affects white blood cells' function. That, in turn, leads to those who have it suffering from serious infections and being especially susceptible to bleeding – including spontaneous bleeding occurrences – as well as eczema which, in some cases, can be severe and difficult to treat, according to information provided by the Wiskott-Aldrich Foundation.
Without a transplant – either of matching bone marrow or cord blood, the only known cures – most children with the severe form of the syndrome have a life expectancy of only about 5 to 8 years, with other autoimmune diseases such as leukemia or lymphoma taking the children's lives, the foundation reported.
“We were just devastated,” Joseph said.
The family’s friends have organized a bone marrow donor drive and fundraising event from 10 a.m. to 2 p.m. Saturday, April 20, at Lake County Fire Protection District’s Station 70, located at 14815 Olympic Drive.
They will be accepting donations and plan to hold a raffle. Community members are invited to attend and show support for the family.
A rare condition
The condition was first described in 1937 by German pediatrician Dr. Alfred Wiskott. According to a history of the disease provided by the Wiskott-Aldrich Foundation, Dr. Wiskott had “noticed a bleeding disorder due to low platelets that ran only in boys in a family.”
That work would be followed up on by American pediatrician Dr. Robert Aldrich, who in 1954 conducted a study of seven generations of an affected family. Aldrich's work showed that mothers passed the disease to their sons.
The disease, which affects males almost exclusively, affects one boy in every 250,000, according to the Wiskott-Aldrich Foundation, www.wiskott.org .
Sumathi Iyengar, one of the co-founders of the Smyrna, Georgia-based foundation, said that there is no firm number on United States Wiskott-Aldrich cases. However, based on the statistical ratio of occurrences, she estimated there are 500 boys with the disease nationwide.
Bone marrow and cord blood transplants currently are the only confirmed cures, Iyengar said.
It's important to do transplants as early as possible for young patients, Iyengar explained, before infections begin to develop. “The success rate is much better when it's done earlier.”
Following transplants, young patients can be very susceptible to illness for several months while their new immune systems take over, she said.
Gene therapy now is emerging as a possible cure, Iyengar said. Gene therapy trials are under way or already have taken place in France, England, Italy, the United States and Germany.
Iyengar's 14-year-old son has a milder form of the condition and has not gone through a transplant. She said Wiskott-Aldrich is a spectrum disorder, much like autism, in that it varies in severity amongst those who have it.
However, her son is susceptible to bleeding if injured, and could be prone to autoimmune disorders later in life.
The Wiskott-Aldrich Foundation reported that the condition was considered one of the most serious of all immune deficiency disorders.
However, there have been an increase in the survival rate thanks to bone marrow transplants. Patients with successful transplants can be cured and go on to lead normal lives.
As frightening a situation as it is for the Josephs, they're optimistic that their son has an excellent chance at a cure thanks to UCSF's accomplishments in the field of bone marrow transplants and pediatrics.
In 2012, for the second consecutive year, the hospital's Hematology and Blood and Marrow Transplant Program was found by the Center for International Blood and Marrow Transplant Research to be an “over performer” in bone marrow transplant survival rates.
The Pediatric Blood and Marrow Transplant Program at UCSF Benioff Children's Hospital, led by Dr. Morton Cowan, was ranked No.1 one for survival performance by a federally mandated review of 156 programs nationwide, UCSF reported.
Since Cowan began the pediatric transplant program in 1982 – when the medical center performed the first partially matched bone marrow transplant on the West Coast – nearly 1,000 transplants have been performed at UCSF Benioff Children's Hospital, according to the medical center.
While Ryland so far hasn't had serious illnesses – just some minor colds – his family has to keep him shielded from visitors for fear of infection.
His father said his immune system isn't working, and the eczema on his face has started to spread. “The things that they told us are coming are developing.”
Developmentally, the little boy is on track, his father said. He is alert and gaining weight, he laughs but also cries often because his stomach hurts due to his gastrointestinal tract issues that have resulted from the disease.
With Ryland likely to start walking soon, that raises the possibility that he could be hurt in a fall. What for other children would be only a bump on the head could, for Ryland, be deadly. His father said hitting his head could lead to a subdural hematoma and death.
Finding a match
With time being of the essence in finding a bone marrow match, Joseph sent out a letter to the many law enforcement professionals that he and his wife know due to having served in a number of departments around the state.
“I decided that I needed to tell my story,” he said.
The letter, which details the family's situation, soon went viral, and was forwarded around the state via email and reposts on Facebook. “It just spread out everywhere,” said Joseph, who has received calls from law enforcement colleagues as far away as Southern California.
Because the likelihood that a family member will match Ryland's marrow is remote, the Josephs are searching for a donor through the assistance of “Be the Match,” the National Marrow Donor Program.
Trina Brajkovich, account executive for Be the Match's Northwest District, said there are about 70 diseases that can be cured or treated with bone marrow transplants, she said. Most are blood cancers like leukemia, as well as aplastic anemia, inherited genetic disorders and chromosome issues.
Over the past year, more than one million people have joined the bone marrow registry to potentially be donors, bringing the nationwide registry total to 10.5 million, Brajkovich said.
“It has grown tremendously,” she said.
In California alone, there are approximately 820 people needing bone marrow transplants, she said, adding that the number changes on a daily basis.
The organization reported that 12,000 patients across the United States are diagnosed each year with diseases for which a marrow or umbilical cord blood transplants may offer the only cure.
In 2012 alone, Be the Match facilitated more than 5,800 marrow, PBSC and umbilical cord blood transplants, averaging 490 transplants each month, the foundation reported.
The registration process is simple, she said.
People between the ages of 18 and 44 – the key donor age group, although donors remain in the registry typically until age 61 – can register online at www.bethematch.org . They will be mailed a kit that shows them how to do a swab of the inside of their cheek for genetic testing, Brajkovich said.
At in-person bone marrow registry drives, people fill out consent forms, answer questions about health history, are shown how to do the cheek swabs and then placed in the registry, she explained.
Some registrants are never contacted. Brajkovich said she has been in the registry for 19 years and has never had the call to donate. Others, she said, are contacted almost immediately because a match has been found.
As to how likely it is a registrant will become a donor, “It’s kind of hard to give odds,” she said.
Donors and patients with a similar racial heritage are matched, as Brajkovich said ethnicity is a major determining factor in matching bone marrow.
Just why relatives so rarely match when strangers do isn't fully understood, said Brajkovich.
She has worked with large families where there are as many as 11 siblings and no bone marrow match, and yet a donor match is found halfway across the world.
“I find it absolutely amazing,” she said. “It boggles my mind.”
If a registrant is contacted to donate, they will be sent for blood work, a complete physical, counseling about the process and will be shown a video. No costs are borne by the donor, Brajkovich said.
There are two ways to donate bone marrow, Brajkovich said, and the process used will be determined by the patient's doctor.
The traditional method to extract marrow – and the one now used less frequently – involves using a needle to extract marrow from the pelvic bone. Because it's a painful procedure, the donor is put under anesthesia. When they wake up, they will feel soreness, akin to having a bruised tailbone, Brajkovich said. That soreness could last a few days or, in some cases, several weeks before disappearing.
However, it's now much more common to use a less painful, nonsurgical procedure called peripheral blood stem cells, or PBSC. Brajkovich said that method is used about 75 percent of the time.
PBSC donations take place over several hours at a blood center or outpatient hospital unit. Brajkovich said that five days before the procedure, a home health nurse will visit the donor to give them injections of a drug called filgrastim, which brings stem cells out of the marrow and into the blood stream.
When it comes time to donate using PBSC – a method Brajkovich likened to blood platelet donation, only longer – the donor's blood is removed through a needle placed in one arm and passed through a machine that separates out the blood-forming cells. The remaining blood is returned to the donor through a needle in the other arm. Blood-forming cells are back to normal levels in six weeks or less.
Medical centers like UCSF, Stanford and Alta Bates in the Bay Area, City of Hope in Los Angeles, as well as centers in Seattle and Utah are main places for the bone marrow surgical procedures. Brajkovich said every attempt is made to accommodate donors' schedules; they donate wherever it's most expedient.
In cases where patients can't find a match, they can receive cord blood to help treat their conditions. Brajkovich said Be the Match has 185,000 cord blood units available.
Besides the work of facilitating a connection between donors and patients, Be the Match also offers important patient services and support. She said another major service they offer is fundraising, to make sure donors never have any financial responsibility.
Joseph said he's entered the blood marrow registry and is encouraging others to do the same. He said he knows of many people who, because of Ryland, are now registering.
If it doesn't help Ryland, there is likely to be another person in need who will benefit, Joseph said.
How you can help: Visit www.bethematch.org to sign up to be a donor. If you don't wish to be an actual marrow donor or can't be for other reasons, you can donate financially. Check out the organization's “Ways to Give” page at http://marrow.org/Giving/Ways_to_Give.aspx .
Email Elizabeth Larson at This email address is being protected from spambots. You need JavaScript enabled to view it. . Follow her on Twitter, @ERLarson, or Lake County News, @LakeCoNews.