Juan Ameen

“I think it is important that without killing a human life, you avoid that it is conceived – especially if you know the child will be born with a disability. In saying this, I don’t think it reduces the life or dignity of the person with a disability,” a parent, whose child was born with a disability, told the Social Affairs Committee last week.

The session was held behind closed doors to protect the identity of the speaker. She was referred to as Paula.

She explained that her sister became pregnant several years ago. During a routine check-up in her seventh month of pregnancy, the doctors realised that the baby’s head was larger than it should be.

She was immediately referred to St Luke’s Hospital and after further investigations, it was found that the baby had a condition called hydrocephalus – a condition where an abnormal accumulation of fluid in the cerebral ventricles causes enlargement of the skull and compression of the brain, destroying much of the neural tissue.

When the child was born, it had to undergo immediate surgery and a pipe with a one-way valve was inserted in the head to drain the fluid to treat the hydrocephalus; otherwise the baby would have died after a few days.

“As you can imagine, the entire family was devastated,” Paula said.

Soon after she became pregnant and gave birth to her first child – a healthy girl. Paula’s gynaecologist was the one who had monitored her sister’s pregnancy. Both Paula and her husband confided their fears to the obstetrician and asked whether it was possible for the unborn child to have the same congenital defect, and whether they needed to undergo any tests. However, the gynaecologist reassured them that the chance to have another baby in the same family was very rare.

Paula described how difficult it was for her sister and her husband to take care of their child. “It was physically and mentally exhausting for them to take care of her. My sister is a small woman like I am – and she was being physically drained, as she had to lift my niece up all the time. Whereas most disabilities make the child very static, she was the opposite. They are physically very active: parents need to buy a new pushchair every two years as they break it with their movements.”

Several years after the birth of her first daughter, Paula became pregnant again. All went well until the seventh month, when the ultrasound showed that the baby’s head was slightly smaller than normal.

When she gave birth, her daughter was immediately taken out of the delivery room. “She was born with a hole in her head. My niece had the same condition but the hole was covered by skin so the fluid did not drain into the womb.”

“My husband informed the doctors that his niece had the same condition. My daughter had a hole in her head leading to the brain and she was immediately started on antibiotics to prevent meningitis,” she said.

While the doctors were speaking to my husband, Paula did not notice anything strange, as she was exhausted and still drowsy from giving birth.

“Half-an-hour after birth, my husband was given the choice of his daughter’s life,” she said. The neurosurgeon asked if he wanted to have the baby operated to close the hole. “The neurosurgeon explained to my husband that he could not tell him if the child had simply a cosmetic defect or a disability. If he decided not to operate the child would die, and if he did decide to operate, the hole would be closed and we might have to bring up a child with a disability. He felt that he could not live with his conscience if he let our child die when it was doubtful whether she was disabled or not,” Paula said.

This procedure is perfectly legal, Paula pointed out. Later on, they consulted a priest and he told them that Canon law states there are no obligations to take extraordinary measures to save lives. When Paula asked what is justified as an “extraordinary measure”, the priest told her that medicine advances at such a fast rate that it is up to the doctor to decide where these measures are justified.

“It was a huge coincidence that both my sister and I had children with hydrocephalus. After many tests, the doctors realised they both had a particular feature – a rare syndrome which appears once in every 10,000 births. It is called the Joubert Syndrome – named after the doctor who discovered it,” she explained.

Joubert Syndrome is a rare, genetic disorder that affects the area of the brain that controls balance and coordination. The disorder is characterised by absence or underdevelopment of a part of the brain called the cerebellar vermis and a malformed brain stem. The most common features include ataxia (lack of muscle control), an abnormal breathing pattern called hypernea, sleep apnea, abnormal eye and tongue movements, and hypotonia.

Other malformations such as extra fingers and toes, cleft lip or palate, tongue abnormalities, and seizures may also occur. There may be mild or moderate retardation. “The children are legally blind, cannot speak, walk or sit down. It is not easy to live with the children. It is always touch and go – it is not the first time she stopped breathing and she turned blue in my arms.”

“Something relatively simple as dressing them up becomes a big problem,” she added.

Both Paula and her sister decided along with their husbands to profile their DNA to see whether they had the gene which set off the syndrome. When the results arrived, they were told that both couples had recessive genes. Certain conditions are passed on to the children when both parents have recessive genes, Paula explained. If only one parent has a recessive gene, then s/he is simply a carrier.

The problem arises when both parents carry the recessive gene as there is a 50 per cent chance of passing it on to their offspring. “When both our families learnt this, we decided not to have any more children,” she said.

Even though this syndrome is extremely rare, it still manifested itself in two sisters from the same family – an even rarer occurrence. Paula explained that since Malta has an extremely small gene pool, the occurrence of the syndrome rises.

“There is the fear of what might happen to my eldest child when she gets married – as she probably is a carrier. Her partner should be prudent and test if he is a carrier through pre-implantation genetic diagnosis (PGD), she said. PGD is the analysing of a cell from an ovum. At present, sex linked chromosomal abnormalities and single gene disorders can be treated with PGD.

For PGD to take place, procedures such as IVF and ICSI need to be conducted in Malta.

“It is not the tool which is wrong, but the people who use the tool. Therefore personally I don’t agree that it is a form of immoral selection to see and discard an ovum which has a genetic defect that can eventually develop into a child with a disability. Nature discards fertilised embryos which have defects naturally through a miscarriage – 80 per cent of fertilised ova are lost before they are even implanted in the womb,” Paula said.

“While I believe that life begins from the moment the sperm penetrates the ovum, I think it is irresponsible to plan to have children when you know they might be born with a disability – nature is selective in itself. We support those who have special needs to live with us in society. However, I pray that my daughter is not conscious of her position as I think she will go crazy in a body which is not able to see, walk and sit up.”