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Support for life-limiting condition research

A family in which two out of four children were born with a rare genetic disorder have spoken about their commitment to helping research to find new treatments for the life-limiting condition.

Najma Sajid and Sajid Mahmood lost their first child Arbaaz to Micro Syndrome in 2003 when he was just five years old. They subsequently had two daughters – Laiba and Aroush, now 17 and 14 respectively - who do not have the syndrome.

But memories of Arbaaz’s short life enabled Najma to identify the same condition within 48 hours of the birth of their fourth child, Tanisha, nearly 12 years ago.

Tanisha's mum Najma and palliative care nurse Ruth Cope.
SUPPORT: Tanisha receives regular visits from the palliative care team.
Tanisha and Aroush Sajid
Tanisha with sister Aroush

“I realised the day after she was born,” she said. “Her eyes were really small, which suggested she had cataracts, an indicator of Micro Syndrome.

“We still had the contact details of our genetic consultants who cared for Arbaaz so I phoned them directly and made a self-referral.

"Tanisha’s condition was confirmed before she was two weeks old.”

The family receives regular support at their Yardley home from Birmingham Community Healthcare’s children’s palliative care team, who work closely with GPs, paediatricians and other professionals such as school nurses and social workers, acting as advocates for families and helping co-ordinate services and support.

Tanisha has also received care at home from the children’s rapid response nurses, who provide urgent treatment to prevent children already known to the palliative care team from going into hospital if they have an acute illness or deterioration in their condition.

For example, with under-developed lungs, Tanisha is prone to breathing problems and rapid response recently provided additional care to help her recover at home from a bronchial condition. Without that extra support, a prolonged stay in hospital would have been necessary.

With fewer than 100 children believed to have Micro Syndrome worldwide, Tanisha’s family are among a very small selection of people that have been able to assist researchers in identifying the chromosomes that cause the condition.

They have taken part in research at Birmingham Women’s Hospital and helped a national project reach its goal of sequencing 100,000 whole genomes from NHS patients.

Dad Sajid: “We made many mistakes with our son; but he was born 20 years ago and there wasn’t enough information about the condition at that time.

“So when Tanisha was born, we promised ourselves we wouldn’t repeat those mistakes and so we are very grateful for the support we have had to achieve that. It’s excellent.”

Najma says she considers every day with her youngest child a blessing.

 “Tanisha can’t see or hear much; but she always has a cheeky smile and knows what she likes,” she says.

“She loves to be tickled, hugged and kissed; and bouncing on her trampoline.

“If it wasn’t for the support the palliative nurses and rapid response team provide, she would have spent a lot more of her life in hospital. It’s been so important that we have received so much care and support in our own home, with Tanisha in her own room and her sisters around her instead of in a hospital bed.

“I believe it is absolutely vital that funding continues for this wonderful service and a full-time doctor and occupational therapist would make a massive difference.

“Most children born with this condition don’t live past the age of five so taking part in research has been a natural thing to do.

“It’s all about giving Tanisha the best quality of life possible in the time she has. We can’t do that alone. Sometimes it’s been a battle to get the support she needs but now we have a near-perfect support team to make her remaining years as good as they can possibly be.”