Two-year-old boy 'cured' of rare disease with pioneering stem cell treatment after being given weeks to live

A TWO-year-old boy who was given just weeks to live has been "cured" of a rare disease after medics used a pioneering technique to treat him.

Alex Montresor can now return to his home in London after travelling to Bambino Gesu children's hospital in Rome for life-saving treatment in November.

The toddler was born with rare immune disorder Hemophagocytic Lymphohistiocytsis (HLH) where the body reacts inappropriately to a "trigger" – usually an infection.

He was being treated with an experimental drug at Great Ormond Street Hospital but his parents Paolo and Cristina were told it may become ineffective after five weeks.

They decided to take him to the Vatican-run hospital, where doctors used specially treated stem cells from his dad Paolo's blood to replace Alex's affected white blood cells.

Children with HLH have over-activated white blood cells, known as T-cells, which cause severe inflammation and damage to tissues including the liver, spleen and bone marrow.

'Ready to resume life'

Franco Locatelli, head of the department that developed the treatment, told the Times: “We can say that Alex is completely cured and that his immune system is now healthy.

“The donor’s cells have completely replaced the sick ones, which would not have allowed Alex to survive. It’s an enormous achievement for the type of transplant.”

We can say that Alex is completely cured and that his immune system is now healthy

Alex will still need to have regular check-ups, but Dr Locatelli said the youngster was "ready to resume the life that all children of his age should have."

He is now the seventh child with HLH to benefit from the procedure at the Italian hospital.

Desperate appeal

Alex's parents, who are originally from Italy but met and live in London, had initially set up a desperate worldwide appeal for a compatible bone marrow donor.

They wrote on Facebook that their son had "fought against an endless series of complications to still be here".

His parents explained that the condition affects "only 0.002 per cent of children" and that "50 per cent of children affected by this disease die within the first month".

What is haemophagocytic lymphohistiocytosis (HLH)?

Haemophagocytic lymphohistiocytosis (HLH) is a rare immune disorder where the body reacts inappropriately to a ‘trigger’, usually an infection.

Specialised white blood cells (known as T-cells and macrophages) become over-activated, causing severe inflammation and damage to tissues such as the liver, spleen and bone marrow.

HLH is a rare disease and it can be difficult to diagnose because many of the symptoms can mimic severe infection or other conditions.

They include a skin rash, raised temperature and swollen liver, spleen and lymph glands. There may be anaemia, infection or bruising and bleeding. If the brain is affected, a child may show symptoms such as seizures, ataxia (wobbliness) or drowsiness.

It's usually diagnosed through blood tests but more specialist tests will check liver function and check for signs and causes of infection.

How is HLH treated?

Treatment is usually coordinated by a specialist centre. The priority of treatment is to damp down – or supress – the immune system to reduce the over-reaction and lessen the risk of tissue damage.

This will often involve courses of corticosteroids and chemotherapy medicines, usually given into a vein (intravenously) in hospital.

New treatments are being developed all the time.

Source: PID UK, GOSH and Great North Children's Hospital

Encouraging people to register as a donor, they said through the voice of their son: "Contact the nearest hospital and everything is done by means of a simple blood sample or saliva if the needles frightened you (as they frighten me too)."

It sparked a surge in people signing the register and in his mum Cristiana's native town of Naples, hundreds queued in the main square to find out if they would be suitable.

Despite 23,000 people registering as donors across the country, a match wasn't made.

Instead dad, Paolo, a manager for Unicredit bank in London, became the stem cell donor.

His parents are continuing to document his journey on their Facebook page.

Source: Read Full Article