Tot raised awareness of need for donors

December 29, 2007

Valerie Fortney, Calgary Herald

Published: Saturday, December 29, 2007

The heartbreaking story of little Evan Pogubila, a Calgary baby who died from a rare immunodeficiency disease, captivated Calgary this year.

While the Pogubila family is still coping with grief, Evan has left behind a legacy his family is carrying forward, increasing awareness of the need for blood and bone marrow donors to help save lives.

It’s just before bedtime, but little Jordan Pogubila shows no signs of slowing down for the night. Wearing a pink sleeper covered in butterflies, her strawberry blond hair cut into an adorable bob, she captivates all around her as she dances to the pop song playing on her parents’ stereo.

“She’s the wild one, Evan was the calm and patient one,” says her mom Melanie as she smiles at her exuberant toddler.

If life had gone the way it should, the 19-month-old’s twin brother, Evan, would be right beside her, bopping along to the music in that amusing toddler way.

Instead, a box sitting on the living room side table, his photograph on the outside and his cremains within, look down upon this happy family scene.

On June 26, 2007, the wide-eyed heartbreaker of a baby died, after a courageous battle against severe combined immunodeficiency disease, also known as SCIDs.

Evan was the only known child in Western Canada with SCIDs, a condition first brought to the public eye in 1976 in a TV movie called The Boy in the Plastic Bubble.

Like David Vetter, the real-life boy who inspired the film, Evan spent most of his short life living in solitude from the rest of the world.

Caused by a genetic defect, the condition is the most rare, and deadliest, of the primary immunodeficiencies. Any contact with others, including his twin Jordan, could compromise what little immune system Evan had.

Over the past year, Calgarians have been captivated by the story of Evan and his family as they fought to save his young life. Through stories in the

news media and http://www.caring, a website that helps those to connect with others during times of critical illness, treatment and recovery, the family shared their emotional roller coaster ride with the public.

(For Evan’s story, go to me=evanpogubila)

We were touched by the story of the baby who could never feel his mother’s lips pressed against his bare cheek, or his twin sister’s cuddles; we rejoiced with the family when in February, a perfect bone marrow match was made for Evan — a one in more than three million happenstance; and we mourned in June when, after being plagued post-transplant with infections, graft-versus-host disease and cancer, the boy whose name means “little warrior” finally gave up the fight.

Today, the Pogubilas are still willing to share their journey with others, despite struggling with a very private grief. They do it, they say, for two very good reasons.

First, they welcome the opportunity to express their gratitude to all who supported them, from family and close friends to health care providers, as well as the community at large.

“The outpouring of love and support from everyone has been amazing and humbling,” says dad Frank, a 37-year-old sales manager for a service company in the oilpatch. “It has restored my faith in community.”

Their other reason is to increase public awareness of the need to donate blood products and sign up as a bone marrow donor.

“We never knew how important it was until our baby got sick,” says Frank as he spins Jordan in the air. “The system gave us so much, and so much to Evan. This is our way of giving back.”

Indeed, when the Pogubilas first learned in the summer of 2005 that Melanie was pregnant with twins, there was no reason to think they might be about to face the biggest challenge of their lives.

“There was no indication anything was wrong,” says Melanie, who delivered her children by

C-section on May 8, 2006.

They were born full term, and apparently in perfect health. “It was everything we could have hoped for.”

The first five months were, says the 35-year-old mom, exhausting but fun. Then, she noticed her boy had a diminished appetite, wasn’t gaining weight and started to exhibit fast-paced breathing.

“Having Jordan to compare to, it was even more obvious,” says Melanie. She and Frank whisked Evan to the hospital, where they found he was suffering from a type of pneumonia common to those with compromised immune systems.

After her son was in the hospital for a couple of weeks, “we got the bomb dropped,” says Melanie.

But there was a silver lining in the dark cloud. Bone marrow transplants on SCIDs patient are 90 per cent successful, they were told.

“We were so scared, but we also had a tremendous amount of hope,” says Melanie. “There was a long road ahead, but we were prepared to take it.”

After successful transplant surgery in March at Toronto’s Hospital for Sick Children, his parents were filled with optimism. Their hope was shared by medical staff, who by early June were advising Melanie on what equipment and supplies she’d need at her temporary Toronto home when Evan would graduate to day patient.

“I had the moment pictured in my mind, just being able to walk out of the hospital with Evan in my arms,” says Melanie. “With no gloves, no mask, no gown.”

Today, the young couple finds some comfort in the memories of their beautiful baby boy.

“He flirted with the nurses, he’d even smile when they poked and prodded him,” says Melanie. “He was so good at reading eyes, since everyone he met was wearing a surgical mask.

“When Jordan would come up to the window at the hospital, they’d both go crazy, banging on the glass.”

“He was an inspiring little person, going through what he did,” says Frank, who smiles at the memory of Evan’s infectious laugh and way of clapping with his arms held out straight as arrows.

Another source of solace has been how Evan’s story has increased awareness of the need for donors of blood products and bone marrow. After one Herald article ran, says Melanie, the Canadian Blood Services website ( received 90 new bone marrow donor applicants.

“It was so out of the ordinary, they at first thought it was a computer glitch,” she says.

To keep this need in the spotlight, the Pogubilas are planning to lead a donation drive in February in conjunction with Canadian Blood Services.

And while helping to increase awareness is their public way of honouring their son’s memory, they have found a private one as well.

“Evan was infatuated with butterflies,” says Melanie, who together with her sister Janeil had a butterfly tattooed onto her right wrist; butterfly ornaments also adorn the Pogubila’s Christmas tree.

When Evan died, Melanie’s sister, who was with her in Toronto, called home to check on her young son. Her mother-in-law told her they were just in the backyard, playing with a large butterfly.

“I like to think that was Nathan’s spirit,” says Melanie.

And then there’s that spirited twin, dancing around the room in her butterfly sleeper.

“She keeps us busy,” says Melanie with a sad smile. “And she also keeps Evan’s legacy alive.”

© The Calgary Herald 2007
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Immune System

December 27, 2007

The following was taken from another blog post. It was quite good, so I thought I’d reprint it here.

Thursday, December 27, 2007


The Immune System — An Overview

The immune system is composed of many interdependent cell types that collectively protect the body from bacterial, parasitic, fungal, viral infections and from the growth of tumor cells. Many of these cell types have specialized functions. The cells of the immune system can engulf bacteria, kill parasites or tumor cells, or kill viral-infected cells. Often, these cells depend on the T helper subset for activation signals in the form of secretions formally known as cytokines, lymphokines, or more specifically interleukins. Such an understanding may help comprehend the root of immune deficiencies, and perceive potential avenues that the immune system can be modulated in the case of specific diseases.

The Organs of the Immune System

Bone Marrow — All the cells of the immune system are initially derived from the bone marrow. They form through a process called hematopoiesis. During hematopoiesis, bone marrow-derived stem cells differentiate into either mature cells of the immune system or into precursors of cells that migrate out of the bone marrow to continue their maturation elsewhere. The bone marrow produces B cells, natural killer cells, granulocytes and immature thymocytes, in addition to red blood cells and platelets.

Thymus — The function of the thymus is to produce mature T cells. Immature thymocytes, also known as prothymocytes, leave the bone marrow and migrate into the thymus. Through a remarkable maturation process sometimes referred to as thymic education, T cells that are beneficial to the immune system are spared, while those T cells that might evoke a detrimental autoimmune response are eliminated. The mature T cells are then released into the bloodstream.

Spleen — The spleen is an immunologic filter of the blood. It is made up of B cells, T cells, macrophages, dendritic cells, natural killer cells and red blood cells. In addition to capturing foreign materials (antigens) from the blood that passes through the spleen, migratory macrophages and dendritic cells bring antigens to the spleen via the bloodstream. An immune response is initiated when the macrophage or dendritic cells present the antigen to the appropriate B or T cells. This organ can be thought of as an immunological conference center. In the spleen, B cells become activated and produce large amounts of antibody. Also, old red blood cells are destroyed in the spleen.

Lymph Nodes — The lymph nodes function as an immunologic filter for the bodily fluid known as lymph. Lymph nodes are found throughout the body. Composed mostly of T cells, B cells, dendritic cells and macrophages, the nodes drain fluid from most of our tissues. Antigens are filtered out of the lymph in the lymph node before returning the lymph to the circulation. In a similar fashion as the spleen, the macrophages and dendritic cells that capture antigens present these foreign materials to T and B cells, consequently initiating an immune response.

Humans have three types of immunity — innate, adaptive, and passive:

Innate Immunity Everyone is born with innate (or natural) immunity, a type of general protection that humans have. Many of the germs that affect other species don’t harm us. For example, the viruses that cause leukemia in cats or distemper in dogs don’t affect humans.

Innate immunity works both ways because some viruses that make humans ill — such as the virus that causes HIV/AIDS — don’t make cats or dogs sick either.Innate immunity also includes the external barriers of the body, like the skin and mucous membranes (like those that line the nose, throat, and gastrointestinal tract), which are our first line of defense in preventing diseases from entering the body. If this outer defensive wall is broken (like if you get a cut), the skin attempts to heal the break quickly and special immune cells on the skin attack invading germs.

Adaptive Immunity We also have a second kind of protection called adaptive (or active) immunity. This type of immunity develops throughout our lives. Adaptive immunity involves the lymphocytes (as in the process described above) and develops as children and adults are exposed to diseases or immunized against diseases through vaccination.

Passive Immunity Passive immunity is “borrowed” from another source and it lasts for a short time. For example, antibodies in a mother’s breast milk provide an infant with temporary immunity to diseases that the mother has been exposed to. This can help protect the infant against infection during the early years of childhood.Everyone’s immune system is different. Some people never seem to get infections, whereas others seem to be sick all the time. As people get older, they usually become immune to more germs as the immune system comes into contact with more and more of them. That’s why adults and teens tend to get fewer colds than kids — their bodies have learned to recognize and immediately attack many of the viruses that cause colds.

Things That Can Go Wrong With the Immune System

Disorders of the immune system can be broken down into four main categories:
1.immunodeficiency disorders (primary or acquired) autoimmune disorders (in which the body’s own immune system attacks its own tissue as foreign matter) allergic disorders (in which the immune system overreacts in response to an antigen) cancers of the immune system Immunodeficiency DisordersImmunodeficiencies occur when a part of the immune system is not present or is not working properly. Sometimes a person is born with an immunodeficiency — these are called primary immunodeficiencies. (Although primary immunodeficiencies are conditions that a person is born with, symptoms of the disorder sometimes may not show up until later in life.) Immunodeficiencies can also be acquired through infection or produced by drugs. These are sometimes called secondary immunodeficiencies.Immunodeficiencies can affect B lymphocytes, T lymphocytes, or phagocytes. Some examples of primary immunodeficiencies that can affect kids and teens are:IgA deficiency is the most common immunodeficiency disorder. IgA is an immunoglobulin that is found primarily in the saliva and other body fluids that help guard the entrances to the body. IgA deficiency is a disorder in which the body doesn’t produce enough of the antibody IgA. People with IgA deficiency tend to have allergies or get more colds and other respiratory infections, but the condition is usually not severe. Severe combined immunodeficiency (SCID) is also known as the “bubble boy disease” after a Texas boy with SCID who lived in a germ-free plastic bubble. SCID is a serious immune system disorder that occurs because of a lack of both B and T lymphocytes, which makes it almost impossible to fight infections. DiGeorge syndrome (thymic dysplasia), a birth defect in which children are born without a thymus gland, is an example of a primary T-lymphocyte disease. The thymus gland is where T lymphocytes normally mature. Chediak-Higashi syndrome and chronic granulomatous disease both involve the inability of the neutrophils to function normally as phagocytes. Acquired immunodeficiencies usually develop after a person has a disease, although they can also be the result of malnutrition, burns, or other medical problems. Certain medicines also can cause problems with the functioning of the immune system. Secondary immunodeficiencies include:HIV (human immunodeficiency virus) infection/AIDS (acquired immunodeficiency syndrome) is a disease that slowly and steadily destroys the immune system. It is caused by HIV, a virus which wipes out certain types of lymphocytes called T-helper cells. Without T-helper cells, the immune system is unable to defend the body against normally harmless organisms, which can cause life-threatening infections in people who have AIDS. Newborns can get HIV infection from their mothers while in the uterus, during the birth process, or during breastfeeding. People can get HIV infection by having unprotected sexual intercourse with an infected person or from sharing contaminated needles for drugs, steroids, or tattoos. Immunodeficiencies caused by medications. Some medicines suppress the immune system. One of the drawbacks of chemotherapy treatment for cancer, for example, is that it not only attacks cancer cells, but other fast-growing, healthy cells, including those found in the bone marrow and other parts of the immune system. In addition, people with autoimmune disorders or who have had organ transplants may need to take immunosuppressant medications. These medicines can also reduce the immune system’s ability to fight infections and can cause secondary immunodeficiency. Autoimmune DisordersIn autoimmune disorders, the immune system mistakenly attacks the body’s healthy organs and tissues as though they were foreign invaders. Autoimmune diseases include:Lupus is a chronic disease marked by muscle and joint pain and inflammation. The abnormal immune response may also involve attacks on the kidneys and other organs. Juvenile rheumatoid arthritis is a disease in which the body’s immune system acts as though certain body parts such as the joints of the knee, hand, and foot are foreign tissue and attacks them. Scleroderma is a chronic autoimmune disease that can lead to inflammation and damage of the skin, joints, and internal organs. Ankylosing spondylitis is a disease that involves inflammation of the spine and joints, causing stiffness and pain. Juvenile dermatomyositis is a disorder marked by inflammation and damage of the skin and muscles. Allergic DisordersAllergic disorders occur when the immune system overreacts to exposure to antigens in the environment. The substances that provoke such attacks are called allergens. The immune response can cause symptoms such as swelling, watery eyes, and sneezing, and even a life-threatening reaction called anaphylaxis. Taking medications called antihistamines can relieve most symptoms. Allergic disorders include:Asthma, a respiratory disorder that can cause breathing problems, frequently involves an allergic response by the lungs. If the lungs are oversensitive to certain allergens (like pollen, molds, animal dander, or dust mites), it can trigger breathing tubes in the lungs to become narrowed, leading to reduced airflow and making it hard for a person to breathe. Eczema is an itchy rash also known as atopic dermatitis. Although atopic dermatitis is not necessarily caused by an allergic reaction, it more often occurs in kids and teens who have allergies, hay fever, or asthma or who have a family history of these conditions. Allergies of several types can occur in kids and teens. Environmental allergies (to dust mites, for example), seasonal allergies (such as hay fever), drug allergies (reactions to specific medications or drugs), food allergies (such as to nuts), and allergies to toxins (bee stings, for example) are the common conditions people usually refer to as allergies. Cancers of the Immune SystemCancer occurs when cells grow out of control. This can also happen with the cells of the immune system. Lymphoma involves the lymphoid tissues and is one of the more common childhood cancers. Leukemia, which involves abnormal overgrowth of leukocytes, is the most common childhood cancer. With current medications most cases of both types of cancer in kids and teens are curable.Although immune system disorders usually can’t be prevented, you can help your child’s immune system stay stronger and fight illnesses by staying informed about your child’s condition and working closely with your doctor.

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Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency Diseases

December 24, 2007

Section IX: Severe Combined Immunodeficiency Diseases

Biology of Blood and Marrow Transplantation
Volume 14, Issue 1, Supplement 1, January 2008, Pages 73-80

Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency Diseases

Morton J. Cowan1, Corresponding Author Contact Information, E-mail The Corresponding Author, Benedicte Neven2, M. Cavazanna-Calvo2, A. Fischer2 and Jennifer Puck3
1Pediatric Blood and Marrow Transplant Division, UCSF Children’s Hospital, San Francisco, California
2Service d’Immuno-Hématologie pédiatrique, Hôpital Necker-Enfants-Malades and Laboratoire INSERM U768, Paris, France
3Division of Immunology, Department of Pediatrics, UCSF Children’s Hospital, San Francisco, California

Available online 24 December 2007.


Hematopoietic stem cell transplantation (HSCT) is the only curative option for most children with severe combined immunodeficiency disease (SCID). Survival for SCID following HSCT has significantly improved over the past several decades, and ranges from 70% to 95% depending on the clinical condition of the child at the time of transplant, the availability of an HLA-matched sibling donor, and the SCID genotype/phenotype. In this article we will review the types of SCID and discuss the critical HSCT issues that confront us today, including the optimal source of donor cells when an HLA-matched sibling is not available, as well as the pros and cons of using conditioning therapy pretransplant. As SCID children have been followed for several decades, it is becoming apparent that long-term outcome and durable T and B cell immune reconstitution are quite variable depending on the initial treatment and source of donor cells. Finally, the development of methods to improve the early diagnosis of SCID along with designing prospective trials to evaluate the best approaches to curing these diseases with minimal toxicity are critical to improving outcomes for children with SCID.

Key Words: Severe combined immunodeficiency (SCID); Hematopoietic stem cell transplantation. Immune reconstitution; Newborn screening; Public health; Primary immunodeficiency; Genetic disease; Early diagnosis

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Gene therapy allows child to go home for holidays

December 24, 2007

Gene therapy allows child to go home for holidays


The Canadian Press

Centreville, N.B. — Two-year-old Katlyn DeMerchant is getting ready to experience her first Christmas outside of the sterile hospital room where she has been confined for most of her life.

The New Brunswick girl, who is known in the province as the “bubble baby,” was diagnosed with severe combined immunodeficiency, an extremely rare genetic disorder that left her with virtually no immune system.

But thanks to experimental gene therapy she received at an American hospital, this year she’s spending Christmas at home

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Ailing Bourbonnais teen needs 2nd appointment at Duke

December 21, 2007

Ailing Bourbonnais teen needs 2nd appointment at Duke

12/21/2007, 10:53 am

Another medical appointment with a Duke University specialist must be made for Balei Chinski, a Bourbonnais 13-year-old suffering from a rare immune deficiency disease.

Cheryl Chinski, Balei’s mom, said that Balei became ill when she arrived in Durham, N.C., for her appointment last week, and was later diagnosed with an infected lymph node. Chronic infections are part of her “Severe Combined Immunodeficiency Disease” (SCID), a rare illness affecting about one in 500,000 people, according to

Chinski said Balei spent three days at Provena St. Mary’s Hospital in Kankakee soon after their plane landed in Chicago on Saturday.

“She had a high fever and was physically unable to walk, her joints were so swollen,” said Chinski of her daughter’s condition, due in part to her juvenile rheumatoid arthritis.

Balei was to have traveled to Duke aboard an Angel Flight, a plane trip provided by a nonprofit network of pilots who fly for free those who need medical treatments. However, it was grounded due to weather.

After reading a Daily Journal article about Balei and her troubles, Derek Denoyer of Kankakee donated his frequent-flyer miles to book the flight that got Balei and her mom to the appointment just hours before it was scheduled.

Denoyer said he plans to do the same thing for their next appointment with Duke’s immune disease specialist, Dr. Rebecca Buckley.

“They had a really good rapport,” said Chinski of Balei and Dr. Buckley. “She asked Dr. Buckley if she would be able to help her and she told Balei she was sure going to try.

“The doctor told Balei that she was very good at what she did, and if there was something out there to help Balei, she’d find it,” said Chinski.

~ Janet Cremer


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First Christmas in a ‘bubble’ for baby

December 21, 2007

First Christmas in a ‘bubble’ for baby

WHILE most families tuck into turkey and open Christmas presents next week, one young couple from Bolton will be at a hospital bedside.

For Ruth Lawrie and Gareth Wilkieson have a son who suffers from a rare disorder which means he could die from the slightest infection.

Baby Logan Wilkieson must spend his first Christmas in a sterile “bubble” which protects him from germs and disease.

He is being cared for at Newcastle General Infirmary.

Mum Ruth, aged 20, said: “We will be having Christmas dinner on the ward and will spend all day there.

“Logan is allowed a few presents but not a lot. As a one-off, they can be wrapped up and Logan can take the paper off, but he won’t be able to play with the wrapping for long.

“Of course, we would want to celebrate at home and it is upsetting because of the circumstances, but we have to try to make it the best we can for him.”

Logan, who is nine months old, has a weak immune system caused by a genetic disorder, Severe Combined Immunodeficiency, which affects just one in 100,000 babies.

He had a vital stem-cell transplant and blood transfusion last month and is recovering well.

He is in a bubble of clean air at the hospital, and everything he touches has to be sterilised before it can be placed near him – which means he can only have plastic or washable gifts for Christmas.

Miss Lawrie and Mr Wilkieson, aged 22, have bought Logan a plastic drum for Christmas and a hammer and ball game.

The couple gave up their rented house in Horwich after Logan was admitted to hospital in Newcastle in October.

Miss Lawrie is now living in a specially-provided flat near the hospital, while Mr Wilkieson is sleeping at friends and at his parents while continuing his job as a shutter-door fitter. He drives to Newcastle at weekends.

Miss Lawrie’s parents, Margaret and Graham Lawrie, and her sister Katie, are visiting the hospital on Boxing Day.

It is hoped that, in a few months, Logan will be able to go home and should go on to lead a completely normal life.

His progress is being detailed in a blog created by Miss Lawrie’s sister which can be read at the website http://www.little

11:05am today

By Amanda Smith

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Rare Immune Disorder Disproportionately Affects American Indians

December 20, 2007

Thursday, December 20, 2007

Science & Medicine

The AP/Farmington Daily Times on Sunday examined SCID, an immune deficiency disorder prevalent among American Indian children. One in every 2,500 Navajo Indian children has the condition, compared with one in 100,000 children in the general population.

Researchers have isolated about 12 genes that are linked to SCID, and Navajos and Apaches are thought to have the most severe form of the condition, where they lack a certain gene. Without that gene, children with SCID are unable to repair DNA or develop T and B cells, which fight disease.

There is no standard test to detect SCID among children. Children with the condition usually will be diagnosed after having a persistent infection, generally within three months of birth. Jennifer Puck, who studies inherited immune deficiency disorders at the University of California-San Francisco, said she is working on a test that would determine whether a child is immune deficient.

Mortan Cowan, a physician who has worked with SCID patients for more than 20 years, said efforts are under way on reservations to educate doctors about signs of the condition (Fonseca, AP/Farmington Daily Times, 12/16).

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