We are extremely grateful to Moaeed and Hina for sharing their story of how Autosomal Recessive Polycystic Kidney Disease (ARPKD) has affected them and their family. As a note to readers, the article contains themes of miscarriage and infant death.
In 2007, whilst living in Ireland Moaeed and Hina were expecting their first child. “The pregnancy started off well” recalls Hina. “The 12-week scan was normal, and no-one had any concerns”.
It was whilst Hina was in Pakistan visiting her parents, that her mother’s friend and gynaecologist offered to do a scan during which she realised that something did not look quite right.
“I was about 16 weeks pregnant when my mother’s friend did another scan and noticed that there was less amniotic fluid than there should have been” says Hina “so she referred us for further tests”.
These tests revealed that their baby had enlarged and cystic kidneys. Hina saw more doctors whilst in Pakistan and was told that the baby’s prognosis was poor. She kept Moaeed updated and returned to Ireland where the diagnosis was confirmed.
Moaeed picks up the story. “Hina moved back to the UK to be closer to family, where she had scans every 1-2 weeks and I would travel back on weekends”. NHS doctors confirmed what the doctors in Pakistan had found - their baby had poor kidney function and may be unlikely survive for very long after birth. They put Hina on steroid treatments to try and give their first child the best chance of survival.
Hina went into labour spontaneously at nearly 34 weeks pregnant and gave birth to a baby daughter, Jannat. Prematurity and the additional health conditions meant that her baby had underdeveloped lungs and required mechanical ventilation from birth. Sadly, Jannat passed away in her mother’s arms at just 6 hours old.
Genetic Testing was undertaken at this time but did not provide a diagnosis. Moaeed and Hina were told that their daughter’s clinical presentation suggested that she had Autosomal Recessive Polycystic Kidney Disease or ARPKD.
Non-urgent advice: What is ARPKD?
ARPKD is a rare inherited childhood condition affecting around 1 in 20,000 babies each year. The condition is marked by abnormal development of the kidneys and liver, and over time these organs may fail. ARPKD is caused by a genetic alteration in the gene PKHD1, which in most cases is passed on to a child by their parents. If both parents carry a faulty version of this gene, there's a 1 in 4 chance of each child they have developing ARPKD.
Given our history we were apprehensive throughout the pregnancy. When, during the delivery we heard our baby cry out loud we were both overcome with emotion and cried tears of joy.Moaeed
After a period of time, Moaeed and Hina decided to try again for a baby. Tragically, the couple were to go through five miscarriages, all without knowing the underlying cause for their babies’ health problems. They decided to seek out private treatment to help get the pregnancy past the first trimester and, seven years after the death of their first child, the couple found they were expecting a baby.
Their daughter remains well with no symptoms of PKD or any other illness and she continues to delight them as she grows.
Wishing to grow their family, Moaeed and Hina had a further pregnancy in 2017. All was going well, including a normal 12-week scan. Then, at the 20-week scan, the sonographer found that the baby, another daughter, had heart and kidney problems.
The family were referred to Oxford University Hospitals for further management.
Hina recalls, “We knew that this time it was different to my first pregnancy, kidney cysts again, but with too much water instead of too little.
"At this point we didn’t know what was causing these problems.”
Following intense investigations and despite having no names for the symptoms presented the couple in consultation with Professor Dominic Wilkinson they chose to give the baby a chance.
Their baby daughter, Huda was born by emergency Caesarean section at just under 37 weeks. Upon hearing of the operation, close family immediately set off and travelled over 200 miles to support the couple whatever the outcome. Thankfully, immediately after delivery doctors were able to pass a feeding tube down to Huda’s stomach and fitted multiple IV lines to help stabilise the child. Baby Huda spent her first few weeks in Neonatal Intensive Care (NICU). Moaeed and Hina recall this time as one of baby Huda having multiple investigations.
The plan had been to get Huda strong enough to be transferred to Southampton to have heart surgery.
We just wanted to do the best for our daughter, whatever it would take for her to have a good quality of life.Hina
As baby Huda’s kidney function stabilised at 2 weeks old, doctors sat down with the couple and explained that the baby would likely require a kidney transplant due to renal cysts, which raised questions for Moaeed and Hina.
"This created a moral dilemma as we could not knowingly accept an organ if we were not allowed to give. I had been consulting with an ethical scholar throughout Huda’s treatment and was surprised to hear of the immense work being done to dispel this notion and where processes exist like in the UK, actively encourage Muslims to donate”. Despite the care she was receiving, Huda’s liver function continued to get worse” Moaeed continues. Doctors sent various genetic samples for testing and continued to treat Huda’s symptoms, whilst also getting in touch with Birmingham Childrens Hospital who had specialists for heart, kidney and liver.
As practising Muslims, we were taught that we weren’t allowed to donate organsMoaeed continues
At 6 weeks and on a Wednesday evening she was transferred to Birmingham Childrens hospital for further investigations, whilst still receiving a continuous infusion of medication to keep her heart pumping, The doctors from all three teams conducted a suite of tests during Thursday to help them best advise the couple.
Moaeed continues: “The doctors sat us down on the Friday and explained that Huda’s liver and kidney function had gotten much worse. They felt that it was not in Huda’s best interest to continue with treatment”. The family faced the most difficult of decisions but agreed to move Huda to palliative care which meant stopping the intravenous medication to support Huda’s heart function.
Death in this case is never instant and after a few days and to give the family some privacy, on Monday lunchtime the family were able to move to a self-contained flat within the children’s hospital where they could be together outside of the constant hospital environment. It was here that Huda sadly died a few moments later, with her family by her side.
Getting a diagnosis
Genetic samples were taken when Huda was at Oxford as well as the 100,000-genome project at Birmingham Children’s Hospital and the results were returned around 6 weeks after Huda had died.
Huda’s results found two conditions and genetic variants. The first was in the ANKS6 gene causing Nephronophthisis which is a type of cystic kidney disease but also affects the heart and liver, including situs invertus and dextorcadia. This explained most of baby Huda’s conditions.
The second mutation was in the BNSD gene causing Bartter syndrome, again affecting the kidney as well deafness, something Huda’s mother suspected whilst she was alive.
The family also took part in the 100,000 genomes project, through which the Oxford genetics team diagnosis was confirmed.
Living with a PKD diagnosis
Moaeed and Hina describe the discovery of a genetic diagnosis as a relief and reassured them on their decision to let baby Huda rest. They had always wondered if it had been the right thing to do; to keep treating Huda and put her through invasive investigations before deciding when to stop.
Going through the trauma of five miscarriages and two of their babies dying shortly after being born has had a profound effect on Moaeed, Hina and their wider family. Moaeed says, “We felt that this 6-week period aged us considerably. Seeing what our child went through was extremely difficult and we saw emotional changes in Huda’s grandparents after this.
Men tend to hide their emotions, but the loss of a grandchild brought both grandfathers to tears. We wouldn’t want to put anyone through that again.Moaeed
“We have changed our beliefs about organ donation too” Hina reflects. “We want to use our experience to encourage others in our community to understand that giving and receiving organs is permitted within the Muslim faith”. They have setup social media channels and a website allowing Muslims to make an informed choice about organ donation.
Moaeed also became a regular blood donor after witnessing a blood transfusion needed by baby Huda. Reading being one of three plasma donation centres in the UK means he now donates plasma for life-saving medicines instead. “I really want to give something back, to make a difference to children and families going through what we went through” says Moaeed.
“We would like to thank all those that helped us before, during and after Huda’s birth. There’s too many to mention by name but rest assured, always we only wanted what was best for baby Huda”.
The importance of diagnosis
Getting a genetic diagnosis helped the family to understand why they suffered so many miscarriages and why their daughters had so many health problems.
Prior to diagnosis Moaeed and Hina spent lots of time searching for answers.
Without the genetic testing we would still be in the dark, and we wouldn’t have a diagnosis or any understanding of what has affected our family so deeplyHina
A further benefit of revealing an underlying genetic condition through testing is that hospital Clinical Genomics Services can then offer families Pre-implantation Genetic Diagnosis (PGD).
PGD is a technique used in reproductive medicine to identify genetic defects in embryos created through in vitro fertilisation (IVF). The use of PGD enables couples to significantly decrease the risk of passing on an inherited disorder to their children.
Although Moaeed and Hina opted not to pursue this, they knew it was an option available to them.
Patients and the public...further information
- ARKPD information (opens in a new tab) (NHS website)
- PKD Charity (opens in a new tab)
- Genetic and genomic testing (opens in a new tab) (NHS website)
- Miscarriage Association (opens in a new tab), Sands (opens in a new tab) (bereavement support) and Tommy's (opens in a new tab) (support after miscarriage)
- Islam and Muslim Organ Donation (opens in a new tab) (Facebook page)
- Pre-implantation Genetic Testing (opens in a new tab)
Healthcare professionals...further information
- Polycystic kidney disease and genomic testing (opens in a new tab) (Genomics Education Programme)
- Fetus with cystic renal disease (opens in a new tab) (GeNotes)
- Renal Transformation Programme FutureNHS Workspace (opens in a new tab) (requires NHS email to join)