When Jasneet presented to the maternity ward, it was the first moment she became aware that something wasn’t right.
At almost full term of a typical healthy pregnancy, Phillip Island based Jasneet and her husband Ishtpreet were so excited about the birth of their second baby, a sister for three-year-old Taj.
Jasneet and her young family had moved to Philip Island from Perth about a month before her due date, arranging to be admitted to Monash Health at 40 weeks to avoid a frantic dash to the hospital, with a long commute, should she experience a quick labour.
Jasneet underwent several tests, results indicated she would need an immediate emergency caesarean section. Soon after, Mehar was born.
With Mehar struggling to breathe and unable to latch properly to receive the much-needed colostrum from her mother, it was quickly evident that Jas’s worst fears had been realised, something was wrong.
Within hours of her birth, Mehar was placed in an incubator to keep her warm and assist her to breathe. In addition to continued difficulty breathing, baby Mehar began vomiting overnight. With no obvious cause, a series of tests were arranged.
After performing an echocardiogram on the tiny baby, doctors discovered Mehar had an enlarged heart with multiple holes. She was rushed to the neonatal intensive care unit at Monash Children’s Hospital.
Further testing revealed that Mehar’s heart muscle was so thick that the blood had difficulty being pumped through the heart and out to her body. This news was devastating to her parents.
Doctors indicated that the prognosis was bleak but that they would support her as best as they could.
Jasneet and Ishtpreet were in shock and completely devastated. They were trying to fathom how this could happen to their baby.
This devastation was exacerbated by the loss of Jasneet’s father only a few months prior. Their world had been turned upside down.
“We spent a lot of time crying. It was all we could do, we were heartbroken,” said Ishtpreet, Mehar’s dad.
As parents of such a vulnerable baby girl, parents Jasneet and Ishtpreet, felt helpless. With little else to do, they leaned into their faith and prayed for their baby girl while doctors carried out more diagnostic investigations, procedures, and tests including genetic testing.
Genetic testing can be a complicated and lengthy process. It took around four months for Mehar’s results to come back. She was diagnosed with a condition known as a type of Noonan Syndrome.
Noonan Syndrome is a genetic condition that leads to multiple issues in various parts of the body. Many genetic conditions are inherited from our parents. In this case, Mehar was born with a new gene change, not inherited from Jasneet or Ishtpreet. This chance event had major implications for her health and her outlook.
Noonan Syndrome primarily affects the heart, and the severity is varied, ranging from mild to severe. Alongside her heart abnormalities, little Mehar is profoundly deaf and has developmental delays.
After being diagnosed with Noonan Syndrome, Mehar was referred to an external specialist, where Jasneet and Ishtpreet were informed that it was unlikely Mehar would live longer than a few months.
However, doctors at Monash Health with expertise in precision-based genetic care worked together to look at novel options to give Mehar options and a better chance.
Mehar commenced medications that specifically target the pathways that contribute to her condition – aiming to improve her heart function, her quality of life and give her more time.
The diagnosis and specialist care through Monash Health’s genomics and cardiac programs, have helped Mehar defy the odds, recently celebrating her 1st birthday!
Dr Ari Horton, Paediatric and Genetic Cardiologist at Monash Children’s Hospital has been working closely with the family to provide the best treatment to Mehar.
“To be able to give hope to families like Mehar’s is a gift. To be a part of changing the future of healthcare for our children is a privilege,” says Dr Ari.
Unfortunately, a transplant is not on the cards at this stage. Mehar’s condition is being managed with novel therapies which are only now part of international trials to change outcomes for children like Mehar, with the hope that it will help to improve her heart function and her quality of life.
“We live each day in the moment, we have hope, and we are always trying to stay positive for Mehar,” says Jas.
“We hold so much hope in what Dr Ari and the team at Monash Children’s Hospital can do for Mehar, which is why we would love to see as many funds raised as possible,” Ishtpreet explains.
Advances in genomics are enabling faster and more accurate diagnosis of rare diseases which would then help enable the delivery of precision medicine. The future of genomics and precision medicine is to improve the diagnosis, management and prognosis for children and families and give them options for prevention and even cure.
While genetic diseases are individually rare, they are collectively common with as many as 1 in 12 children born with a rare disorder. But what if you could help them see a brighter tomorrow?
Your gift through this appeal will help with funding towards the genomics program at Monash Children’s hospital, improving diagnostic and treatment outcomes across the suite of Monash Children’s Hospital.
Whatever your gift, large or small, you can be certain that it will help change the lives of many children living with rare diseases.
