Couple reveal their newborn baby’s ‘snoring’ was actually a sign of a rare heart defect

A couple who noticed their newborn baby’s snoring discovered that the sound was actually caused by a rare heart defect.

Charlotte Lake, 23, and her fiancé Nathanael Guide welcomed baby Ava-Rose on June 25.

The couple from Annan, Scotland, soon noticed that she was making snoring noises when she breathed, even when she wasn’t sleeping.

Ava also slept more than normal for a newborn, which her parents said was a “good sleeper.” But she didn’t gain weight either.

After raising concerns with their midwife, Ava was taken to hospital where she was diagnosed with a hole in her heart.

Charlotte Lake and her fiancé Nathanael Guide welcomed baby Ava-Rose on June 25, but a few weeks later they became concerned about her continued sleeping and snoring.

When she was just a week old (pictured), Ava was sleeping more than usual and struggling to gain weight

When she was just a week old (pictured), Ava was sleeping more than usual and struggling to gain weight

She underwent life-saving open heart surgery when she was just three months old and is now “a normal, healthy baby again.”

Her parents are eager to share their story in hopes of raising awareness of the signs of heart defects in babies.

“I told her when she was born that she sounded funny, like she was suffering from the cold,” Mrs. Lake said.

‘The doctors thought it was normal and they told me she would be fine.

“As time went on, she seemed to get worse and worse.”

On July 4, just nine days after Ava’s birth, Mrs. Lake told their obstetrician that Ava’s breathing was strange.

Tests showed her breathing and heart rate were double what was normal, meaning they were dangerously high.

WHAT IS CONGENITAL HEART DISEASE?

Congenital heart disease (CHD) is a general term for a range of birth defects that affect the functioning of the heart.

CHD is one of the most common birth defects, affecting almost 1 in 100 babies born in Britain and the US.

In most cases, no clear cause of a congenital heart defect is identified. But Down syndrome, where the mother has certain infections, such as rubella, or takes medications such as statins, is known to increase the risk of the condition.

Some common defects are:

  • Septal defects – where there is a hole between two chambers of the heart (commonly called a ‘hole in the heart’)
  • Coarctation of the aorta – where the main large artery of the body, called the aorta, is narrower than normal
  • Pulmonary valve stenosis – where the pulmonary valve, which controls blood flow from the right lower chamber of the heart to the lungs, is narrower than normal
  • Transposition of the great arteries – where the pulmonary and aortic valves and the arteries they connect to are switched positions
  • Underdeveloped heart – where part of the heart does not develop properly, making it difficult to pump enough blood through the body or lungs

Symptoms include:

  • High heart rate
  • Breathe quickly
  • Swelling of the legs, abdomen or around the eyes
  • Extreme tiredness and fatigue
  • A blue tinge to the skin or lips (cyanosis)
  • Fatigue and rapid breathing while feeding a baby

Source: NHS

Within five minutes the midwife had called the children’s team in Dumfries and an ambulance arrived.

At first, Ava’s symptoms confused hospital doctors. They thought she might have an infection in her lungs, or pneumonia.

After several tests, staff diagnosed Ava with a heart defect, sending her to the Royal Hospital for Children in Glasgow.

‘Doctors finally said it looked like she had a heart murmur. From then on they sent another ambulance to take us to Glasgow and I went with her,” Ms Lake said.

Tests performed on July 6 revealed that Ava had a hole in her heart – a life-threatening heart defect that can cause rapid breathing and shortness of breath in babies.

And her aorta – the largest artery in the body that carries blood from the heart to the circulatory system – was connected in the wrong place.

As a result, her heart had difficulty pumping blood through her body, making it difficult for her to breathe.

Congenital heart disease (CHD) – birth defects that affect the way the heart works – is one of the most common types of birth defects, affecting almost 1 in 100 babies born in Britain and the US.

Symptoms include a fast heart rate, rapid breathing, extreme tiredness, a blue tinge to the skin or lips and swelling of the legs, abdomen or around the eyes, the NHS says.

The pair thought they were “just blessed with good sleepers.”

But after her diagnosis, they realized Ava was “exhausted.”

After Ava was diagnosed, her weight had to be increased before she could undergo life-saving surgery.

Mrs Lake said: ‘The doctors had asked if she was quite sleepy and I said yes. I thought it was a normal thing for newborns, but Ava didn’t really wake up during the night like a ‘normal’ newborn.”

She added: “I was just trying to come to terms with the fact that my little newborn baby – who was less than two weeks old – was going to need heart surgery.

‘We had trouble getting her to gain weight and she wasn’t keeping anything down, so she was eventually put on a feeding tube.’

Finally, after about six weeks of being on a feeding tube, doctors told the couple during a checkup on August 18 that Ava was ready for surgery.

Mrs Lake said: ‘Before the operation it got to the point where she was awake for perhaps less than six hours a day.

“Her heart worked so much harder than any other baby to keep her alive.”

She was then scheduled to undergo open-heart surgery on October 6 to repair the heart defect.

Ava pictured in hospital for her open heart surgery.  Ms Lake said 'putting her to sleep was the most traumatic part' and she feared it could be the last time they saw her

Ava pictured in hospital for her open heart surgery. Ms Lake said ‘putting her to sleep was the most traumatic part’ and she feared it could be the last time they saw her

The surgery on Ava's heart was a success and Ava recovered well.  Now the couple are raising money for the Glasgow Children's Hospital Charity and for the Ronald McDonald House in Glasgow

The surgery on Ava’s heart was a success and Ava recovered well. Now the couple are raising money for the Glasgow Children’s Hospital Charity and for the Ronald McDonald House in Glasgow

The couple knew there was ‘no guarantee she would make it’ through surgery, they also felt there was ‘no other choice’.

The doctors said Ava would not survive to go to school if the operation did not go ahead.

Ms Lake said: ‘Putting her to sleep was the most traumatic part – she was crying and fighting the mask, trying to push it off her face.

“She was really upset and that was heartbreaking enough.”

She added: ‘The anesthetic kicked in and she just went limp – that broke my heart.

“We had to leave and say goodbye, knowing it might be the last time we ever saw her. What if something goes wrong?

‘The doctors were prepared for any eventuality, but we still had to leave Ava in the hands of others. We didn’t know if she would make it out alive.’

The surgery on Ava’s heart was a success; Ava recovered well and was able to return home just eight days after the operation.

“Everything went well, but the gap was bigger than they expected,” Ms Lake said.

‘A baby’s heart is still small at that stage; I can’t imagine how much of her heart was taken up by this hole.

‘Now she’s doing great. She is slowly gaining weight – now she can take a bottle again.

“Other than her medications and hospital appointments, she is back to being a normal, healthy baby.”

The family is now raising money through a GoFundMe pagefor the Glasgow Children’s Hospital Charity and for the Ronald McDonald House in Glasgow.