February 3, 2023

A two-year-old boy who suffers from a genetic condition that makes him unable to play with other children – forcing him to live in a ‘bubble’ and receive three injections a week, is denied a cure by drug companies for his condition.

Jakob Kamil Guziak, of Alberta, Canada, was diagnosed with severe combined immunodeficiency (SCID) shortly after birth, a condition that robs children of a functioning immune system.

The rare condition is normally a death sentence and only one in five patients survive to their 20th birthday, but in recent years scientists have developed treatments that are up to 95 percent effective.

But these are now hard to come by after drug companies, including UK-based Orchard Therapeutics, pulled the plug after it was unclear how the multi-million dollar procedures would turn a profit. Massachusetts-based Mustang Bio is also working on a procedure, but it will cost in the millions.

Jacob’s mother Andrea said she had a dream that her son would go to school and take swimming lessons before he was born. But now – after being unable to receive treatment – he has to start kindergarten at home in September.

Jakob Kamil Guziak, of Alberta, Canada, was born with a genetic condition that left him without a functioning immune system. It means he can still play with other kids and get three injections a week

Mother Andrea, pictured, is frustrated that treatments for her son’s condition have been developed but are not available, as drug companies fear they won’t make a profit. Also shown is Jacob and father Kamil

Jakob’s condition is called severe combined immunodeficiency (SCID), which robs children of a functioning immune system. About one in five patients reach their 20th birthday

Each year in the US, about one in 58,000 babies is born with SCID, which is caused by an inherited genetic disorder.

Young people with the condition appear healthy at first, but this is only because their mother’s immune system protects them. As this subsides, common infections and even vaccines can prove life-threatening to them.

In the past, to avoid exposing patients to everyday germs, many patients have been put in plastic cases — giving the condition the nickname “bubble syndrome” — to protect them.

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Today, many are kept in effective lockdown at home – as with Covid – to protect them. They are also injected with enzymes to boost immunity.


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 every 50,000 to 100,000 births in the US and UK each year.

SCID-affected babies usually get sick within the first few months of life.

They are partially protected during the first weeks by antibodies passed on from their mothers during the late stage of pregnancy.

While patients used to die within the first year, modern treatment means the risk of infection can be reduced and many cases cured.

SCID occurs when immune cells, also called white blood cells, are missing or malfunctioning due to a genetic mutation.

Affected babies are more likely to have a cough or cold during the first few months, which are often severe and prolonged.

Thrush, chronic diarrhea and not gaining weight are also common.

The first step in protecting patients is to provide a sterile environment that protects the child from infection.

Although parents can stay with the child, visits should be kept to a minimum.

Antibiotics, antivirals, and antifungals are given, usually through syrups, to prevent and fight any infections.

Regular immunoglobulin therapy is also needed to provide the youngster with antibodies from donors.

But this is only a temporary solution with a stem cell transplant or gene therapy needed to ‘cure’ the condition.

Source: OH DEAR

Jakob has barely left his parents’ house since he was released from hospital in October 2019 when routine tests revealed the condition, reports the Insider.

The only people allowed to visit him are his grandparents and some friends of the family who don’t have children or pets.

To keep their son safe, his parents change and shower when they get home from work.

If Jakob sees a dog while walking around the neighborhood, he may only pet it twice before his mother applies generous amounts of hand sanitizer.

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“Right now we are buying time,” Andrea told the publication. “We can’t wait forever.”

Treatments have been developed for the condition, but they are not on the market due to the multimillion-dollar cost and pharmaceutical companies not seeing how to benefit from them.

Current procedures are based on gene therapy, in which stem cells are removed from the bone marrow, treated in the lab to repair their genes, and then given back to patients to rebuild the immune system.

Tests have shown them to be up to 95 percent effective, but thanks to the hefty price tags, pharmaceutical companies have largely gotten it out of the way.

British pharmaceutical giant GSK pioneered Strimvelis in the 2000s to help patients with the condition.

But – after offering it to just 17 patients – they sold the rights, after difficulties turning a profit.

It was bought by Orchard, a biotechnology startup that was working with Dr. Donald Kohn, an immunologist at the University of California, Los Angeles, on another gene therapy for the condition.

Kohn developed a separate treatment for the condition – called Kohn’s therapy – that also used gene therapy. Tests showed that all 50 patients who received it were alive at least two years later, and 95 percent needed no further treatment.

But – as with GSK – it was eventually dropped by Orchard as well.

A company spokesperson told the Mail the decision was due to “manufacturing requirements” for the treatment and other treatments already on the market. Their decision came after shares fell 90 percent.

A third gene therapy is also being developed by Massachusetts-based Mustang Bio for patients, which they expect to pay a multi-million dollar price tag to ensure they can recover the investment.

Major barriers to companies developing these treatments include their high price tags and their focus on rare conditions, which means there are few potential patients.

But in the case of SCID, treatments have actually been developed now, but it’s difficult to access because pharmaceutical companies have moved away.

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Orchard has handed over the rights to Kohn’s treatment to the inventor, who raised $4 million to run it — but he told the Insider it was only enough to treat three more patients.

In her mission to get her son treated, Andrea has learned all about gene therapy and how drugs are developed.

She said, “I feel emotionally drained.

‘I have worked tirelessly. Let’s go on TV, let’s go on the radio. It is much.

‘[But] Jacob keeps me going. When I look at him, I don’t want to stop. the work isn’t done until it’s done.’

It comes after a British mother’s son died five days before his first birthday when a catalog of delays resulted in his condition being missed for months.

Jakob pictured with his father Kamil at home in Edmonton, Alberta in Canada

Jakob in the picture with his mother Andrea. She was recently diagnosed with cancer and said it has been a struggle to get her son to this stage, but she has no intention of stopping until he is treated

Proud mom Susie Thorndyke showed off her baby son and passed him on to friends and family for a hug.

But two months later, Susie learned that those hugs had caused irreparable damage to his immune system because he had SCID.

If diagnosed at birth, children with the condition can be protected until they are ready for a bone marrow transplant to restore their immune systems.

With this treatment, 90 percent of so-called “bubble babies” will live normal, healthy lives, said Bobby Gaspar, an honorary professor of pediatric immunology at University College London.

“Because he wasn’t diagnosed right away, everyone who saw James made him feel worse — the bugs that are harmless to most babies were fatal to him,” says Susie, 38.

For Susie and Justin, 45, a Norwich farmer, their ordeal is compounded by the fact that James’ death was avoidable: There is a $3 test that can check for this condition.