A toddler with a rare genetic condition that prevents him from playing with other children – forcing him to live in a sanitized “bubble” – says drug companies say there is no cure for his condition.
Jakob Kamil Guziak, from Alberta, Canada, was diagnosed shortly after birth with severe immunodeficiency syndrome (SCID), a disease that robs children of their immune systems.
A rare condition, usually only one in five death row patients survives past the age of 20, but in recent years scientists have developed treatments that are up to 95 percent effective against it.
But drug companies, including U.K.-based Orchard Therapeutics, have found it difficult to get hold of the multimillion-dollar procedures after it’s unclear how they will turn a profit. Mustang Bio in Massachusetts is also working on the procedure, but it costs millions.
Jakob’s mother, Andrea, said that even before he was born, she dreamed of her son going to school and taking swimming lessons. But now – after being unable to get treatment – she has to start preschool at home this September.
Jakob Kamil Guziak, who lives in Alberta, Canada, was born with a genetic disorder that caused his immune system to fail. This means he is still not allowed to play with other children and has to get injections three times a week
Mother Andrea, pictured, is upset that drugs have been developed for her son’s illness, but pharmaceutical companies fear they won’t make a profit. Jacob and his father Kamil are also shown
Jakob’s condition is called severe immunodeficiency syndrome (SCID), which affects children’s immune systems. Every fifth patient turns 20 years old
About 1 in 58,000 babies in the U.S. are born each year with SCID, which is caused by an inherited genetic disorder.
Young people with this disease appear healthy at first, but that’s only because their mother’s immune system is protecting them. As this declines, common infections and even vaccines can threaten their lives.
To prevent patients from being exposed to everyday germs, in the past, many patients were placed in a plastic barrier – nicknamed “bubble syndrome” – to protect them.
Many people today are in effective lockdown at home to protect them, for example with Covid. They are also injected with enzymes to boost immunity.
WHAT IS SEVERE IMMUNODEFICIENCY?
Severe combined immunodeficiency is a group of rare, inherited disorders that cause abnormalities of the immune system.
This puts patients at greater risk of life-threatening infections.
It affects one in 50,000 to 100,000 births each year in the US and UK.
Babies with SCID usually become ill within the first few months of life.
They are partially protected during the first few weeks due to antibodies passed on from the mother during the last stages of pregnancy.
Although patients die within the first year, modern treatments reduce the risk of infection and cure many cases.
SCID occurs when immune cells called white blood cells are missing or dysfunctional due to a genetic mutation.
Affected babies have coughs or colds in the first months, which are often severe and long-lasting.
Oral thrush, chronic diarrhea, and weight loss are also common.
The first step in patient protection is to provide a sterile environment that protects the child from infection.
Although parents can stay with the child, the number of visitors should be limited.
Antibiotics, antivirals, and antifungals are usually given as syrups to prevent and treat various infections.
Regular immunoglobulin therapy is also required to provide the young child with antibodies from donors.
But all that is required to “cure” the condition is a temporary fix with a stem cell transplant or gene therapy.
A source: GOSH
Jacob has barely left his parents’ home since being discharged from the hospital in October 2019, Insider reports.
Only her grandmother and a few family friends without children or pets were allowed to visit her.
For his son’s safety, his parents change clothes and bathe after coming home from work.
When Jacob is walking around, if Jacob sees the dog, he is only allowed to pet it twice before his mother uses a small amount of hand sanitizer.
“Right now we’re buying time,” Andrea told the publication. “We can’t wait forever.”
Drugs have been developed to treat this condition, but they are not on the market because they cost millions and drug companies don’t know how to profit from them.
Current procedures rely on gene therapy, where stem cells are taken from the bone marrow, treated in a laboratory to correct their genes, and then returned to patients to restore the immune system.
Tests have shown them to be up to 95 percent effective, but the high prices have forced many drug companies to settle.
British pharmaceutical giant GSK launched Strimvelis in the 2000s to help sick patients.
But – after offering it to only 17 patients – they sold the rights after struggling to make a profit.
It was acquired by biotech startup Orchard, which is working on another gene therapy for the disease with Dr. Donald Kohn, an immunologist at the University of California, Los Angeles.
Cohn developed a separate treatment for the condition – called Cohn Therapy – which also used gene therapy. Tests showed that all 50 patients who received it were still alive at least two years later, and 95 percent did not need further treatment.
But – like GSK – it was eventually dropped by Orchard.
A company spokesperson told the Post that the decision was due to “manufacturing requirements” for the treatment, as well as other treatments on the market. Their decision came after the shares fell by 90 percent.
A third gene therapy is also being developed for patients by Massachusetts-based company Mustang Bio, which expects to command a multimillion-dollar price tag to recoup its investment.
The main hurdles for companies developing these treatments include their high cost and the fact that they target rare conditions, meaning there are few potential patients.
But while treatments for SCID are now actually being developed, they’re difficult to come by because drug companies have pulled away.
Orchard transferred the rights to Cohn’s treatment to the inventor, who raised $4 million to continue it — but he told Insider that’s only enough to treat three more patients.
On a mission to cure her son, Andrea learned all about gene therapy and how drugs are developed.
He said: “I am emotionally exhausted.
“I have been working hard. Let’s go on TV and radio. That’s a lot.
‘[But] Jacob holds me. I don’t want to stop looking at it. it ain’t over till it’s over.”
It left a British mother missing her son for months after his condition died five days before his first birthday.
Jacob was photographed with his father, Camille, at their home in Edmonton, Alberta, Canada
Jakob poses with his mother Andrea. She said she was recently diagnosed with cancer and it was a struggle to get her son to this stage, but she doesn’t plan to stop until she is treated.
Proud mum Susie Thorndike was showing off her baby and taking her to cuddle with friends and family.
But two months later, Susie learned that the hug had irreparably damaged her immune system, as she was diagnosed with SCID.
If diagnosed at birth, children with the disease can be protected until they are ready for a bone marrow transplant to restore their immune system.
According to Bobby Gaspard, professor emeritus of pediatric immunology at University College London, 90 percent of “bubble babies” go on to live healthy lives with this treatment.
“Because he wasn’t diagnosed straight away, everyone who saw James made it worse – what would have been a harmless bug for most babies turned out to be fatal for him,” Susie, 38, said.
For Susie and Justin, 45, from Norwich, their pain is compounded by the fact that James’ death could have been avoided: there is a $3 test to check for the condition.