Image source, Oleksii Bykov
Nika is about three years old. Like other children of her age, she is also curious to know everything, likes to look at books and also does mischief.
Her mother Ana says that Nika is a happy child. But unlike other children, she is living with a very rare disease.
The name of this disease is Hereditary Spastic Paraplegia Type 47. It is called SPG47 in short.
So far, this disease has been confirmed in only 130 people worldwide. However, experts believe that there may be thousands of people who have this disease but it has not been identified yet.
This disease, caused by changes in genes, gradually affects the way the child's brain and nervous system work. This affects the child's ability to speak and walk.
Even children who have learned to walk and talk may lose these abilities later.
No cure for SPG47?
Dr. Darius Ebrahimi-Fakhari, director of the department of movement disorders at Boston Children's Hospital in America, says that there is no cure for SPG47 yet.
This disease affects so few people that drug manufacturing companies do not show interest in investing money in its treatment.
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In such a situation, the parents of children suffering from this disease started collecting money themselves. He raised millions of dollars to help develop a potential treatment called gene therapy.
This treatment is now ready to be tested on children. But millions of dollars are still needed to start this investigation.
The investigation will find out how safe the treatment is for children and how effective it is on the disease. If it is successful, the lives of these children can change.
How was Nika's illness diagnosed?
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Nika's mother Ana Popovich first felt that something was not right when her daughter was not developing as per her age.
Nika started turning late. She could not walk on her knees and could not even sit on her own until she was one year old.
Nika's family is from Ukraine. After the massive attack by Russia in the year 2022, the family moved to Czech Republic.
It was there that the family came to know about Nika's illness.
Nika started having epileptic seizures one after another. Doctors did many tests, but they could not understand what was causing the seizures.
After this, it was proposed to conduct another genetic test of Nika.
This investigation was done with the financial assistance given by the European Union for research on such diseases in children, which could not be identified earlier.
Ana tells that she received the investigation report by post.
“When we saw the name of SPG47 in the report, we started searching about it on the internet,” she says.
The doctor also told the family that she was hearing the name of this disease for the first time and it was very rare.
How does SPG47 disease affect children?
Image source: Chris Edwards
SPG47 disease is caused by a change in the child's gene called AP4B1.
Dr. Ebrahimi-Fakhari explains that this disease mainly affects the development of the child's brain and nerves. However, it can affect other parts of the body as well.
In most children, its initial symptoms start appearing before the age of one year.
Such children start sitting, standing or walking later than other children of their age. It may also take time for them to learn to speak.
Between the ages of four to six years, the muscles in their legs start becoming stiffer than normal.
After this the disease gradually progresses. Children who have already learned to walk and talk may also lose these abilities later.
According to Dr. Ebrahimi-Fakhari, these children may need a wheelchair by the age of 10 or 11.
They believe that this disease may affect more children than the 130 cases reported so far.
Parents of children affected by SPG47 have formed an organization called Blackfin Bio, which is working to develop a treatment for this disease.
The organization estimates that more than 3,600 people worldwide may be living with this disease.
This wide gap between confirmed cases and estimated cases is because the specific genetic test needed to detect SPG47 is not available in many countries.
Because of this, the disease of some children is confused with cerebral palsy. Cerebral palsy is the name used for many conditions that affect the body's ability to move and coordinate.
Father kept asking for help from scientists by sending photos of his daughter
Robbie, daughter of Chris Edwards, who lives in Massachusetts, USA, is now 12 years old and uses a wheelchair.
When Robbie was diagnosed with the disease in 2016, she was only the tenth SPG47 patient worldwide to have it confirmed.
After this, Chris started trying to draw the attention of people and scientists towards this disease.
He contacted scientists doing research on topics related to this disease. He used to send them emails and also included pictures of his daughter.
Chris used to ask him how his daughter could be helped.
In 2017, a group of experts met at Boston Children's Hospital. In the meeting he agreed that gene therapy had the greatest potential to help these children.
After this, the search started for such experts who could prepare this treatment. Besides, the work of raising money for this was also started.
According to Chris, he contacted almost every company in the world working on rare diseases.
He appealed to the companies to prepare treatment for SPG47 and start the process of its approval.
But the answer of almost all the companies was the same.
Chris explains, "Most biotech companies want to work on a treatment only when it has at least 500 potential patients. Only then do they find it commercially feasible to work on that treatment."
He says, "I met many nice people who wanted to help. But in the end everyone said that there are very few patients with this disease, so it is not possible to start work on treatment."
When the parents decided to prepare the treatment themselves
Image source, Boston Children's Hospital
After getting rejections from many companies, Chris Edwards along with other parents formed a non-profit organization called Cure AP-4.
After this, Blackfin Bio was started, so that the treatment of SPG47 could be prepared.
Families from many countries including Croatia, India, Ukraine, Libya, Canada, Japan, Netherlands, America and Britain joined this effort.
These families together started raising money for treatment.
Nika's father Oleksiy Bykov says that it was very difficult for him to talk about his daughter's illness in front of people for the first time.
Appealing to people to donate money was also not easy.
He says, "But we decided that we had to do this for our child."
A portion of the money raised by the families was given to the University of Sheffield in Britain.
Whereas Dr. Mimoon Azooz prepared gene therapy for SPG47.
How will gene therapy work?
In this treatment, a healthy form of that gene is used in place of the defective AP4B1 gene.
The healthy gene is placed inside a virus that has been changed to make it safe.
The injection of this virus is given to the child. The virus transmits healthy genes to the child's brain cells.
After this, these cells can start using new and healthy genes in place of bad genes.
Researchers believe that this treatment is likely to be most effective in children aged one to five years.
Dr Ebrahimi-Fakhari calls it a race against time.
According to him, when the child starts losing abilities like walking or speaking, the chances of getting much benefit from the treatment reduce.
If the treatment starts early, the chances of getting benefit from it are higher.
In the year 2025, the Food and Drug Administration (FDA), the drug approving body in America, had approved the first test of SPG47 gene therapy on children.
"The problem today is not science," says Dr Ebrahimi-Fakhari.
The treatment is ready and approval has also been given to test it on children. But there is not enough money to deliver it to the children.
Around Rs 33 crores are needed to start the investigation
Parents of children affected by SPG47 have so far collected around Rs 14 crore.
But to start testing the treatment on children, about Rs 33 crore more is still required.
This investigation will continue for five years. In this it will be found out how safe the treatment is for children and what effect it has on the disease.
Dr Ebrahimi-Fakhari says that if the necessary funds are available today, treatment for the first child can be started within six months.
There are some risks associated with testing this treatment on children. Despite this, parents of children affected by SPG47 are ready to include their children in it.
He says he has no other option.
"Nika is almost three years old," says Ana Popovich. "We don't have time to wait for this treatment to come to market. It could take years."
She says, "In a way, the cure is sitting in a fridge, waiting for the children to come first."
Chris Edwards estimates that approximately Rs 94 crore more will be required to fully prepare the treatment and get approval for its use on a large scale in America.
He knows that this is a huge amount. It may take a long time for the treatment to get full approval.
Ana says that her family is exploring every possible way to raise money.
She says, "Nika still can't walk or talk. But despite all this, she understands everything and is a happy child."
The daughter will not be able to get treatment, yet why is the father busy?
Chris Edwards knows that his daughter Robbie is now too old to be involved in this investigation.
There is very little possibility that Robbie will be able to benefit from this treatment.
Despite this, Chris is busy raising money for treatment and taking it to other children.
He says, "I do this work every day because I want to see that moment when a family gets this treatment for the first time and it changes their child's life for the better."
Published by Collective Newsroom for the BBC.
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