This is Talia's story, as told by her parents, Claire and Mohamed, who also shared Zaki's story last year for Kranky Panky Campaign 2021.
Last November for Kranky Panky month, we shared the story of our lovely boy Zaki who started getting recurrent attacks of acute pancreatitis just after his 3rd birthday. Investigations and tests eventually confirmed that Zaki had the SPINK1 gene mutation, as well as two mutations on his CFTR gene. It was the combination of these genes that were considered to have caused Zaki’s acute pancreatitis attacks and due to the damage to his pancreas he was diagnosed with chronic pancreatitis and Exocrine Pancreatic Insufficiency (EPI).
We found out Zaki’s genetic results when I was 33 weeks pregnant with our daughter. A doctor very unhelpfully told me, “It’s too late for that baby then!” We were extremely worried about what this might mean for our unborn daughter, but we hoped against hope that the likelihood of her having the same genetic mutations would be tiny.
Our beautiful daughter, Talia, was born in October last year and has just celebrated her 1st birthday. Zaki is besotted with her and Talia absolutely adores her older brother! Due to Zaki’s genetics, the paediatric doctors agreed to test Talia. At just a few hours old, blood samples were taken from Talia via a heel prick. Our tiny baby was already having blood tests, but luckily she slept throughout!
When Talia was 13 weeks, I received a call from the hospital. They confirmed our worst fears. Talia had exactly the same genetic mutations as her brother. We were absolutely devastated and just couldn’t believe it. We worried about what this might mean for Talia’s future. Would she too start getting acute attacks of pancreatitis and pain, like Zaki? Would she be spending weeks in hospital at a time? How will we manage as parents with two children with serious medical conditions? It was a scary and upsetting time.
Talia was referred to the specialist paediatric pancreas team that also see Zaki. She now has regular appointments alongside her brother. We now have to manage two lots of ultrasounds, faecal samples and the dreaded blood tests, which are always traumatic and frightening for the children! Zaki and Talia were also referred to the cystic fibrosis team due to their CFTR mutations and recently were in hospital for sweat tests. Thankfully the tests came back negative.
Whilst we wait to see if Talia may be affected, as I write this Zaki is currently in hospital with another acute attack of pancreatitis after having been attack free for over a year. It is absolutely heart-breaking to see your child in so much pain, both physically and emotionally.
Zaki continues to take pancreatic enzymes. When we learned that Zaki would need to start taking these, we found out that it is manufactured using pig enzymes which of course is haraam (forbidden) in Islam. As there are no halal (permitted) alternatives for Zaki to take, and not taking the enzymes would negatively impact his health, Islamic law does allow for him to take the medication. Good practice would have been for the hospital to advise us of this prior to prescribing, but we had to find out ourselves by reading the information leaflet!
Interestingly there has been an improvement in Zaki’s faecal elastase test results (the poo test that monitors his pancreatic enzymes). This means there is a possibility he may not need to take these enzymes indefinitely, although doctors aren’t completely clear on why his scores improved.
Despite a calmer year in terms of hospital admissions, we have to manage and cope with his condition and with the possibility that Talia may also become unwell on a daily basis. We also face additional challenges as a family with mixed ethnicity, particularly for my husband for whom English is not his first language. It takes additional time and patience as we try to understand complex medical terms and then for him to be able to translate them into Arabic and communicate to members of his wider family. I am always impressed at how he manages to do this. But at times he has become frustrated with the process, particularly when doctors only address me. They have the expectation that I will just ‘explain it all again later’.
We know that the future holds ongoing appointments and monitoring at the specialist and local hospital, as well as further tests and investigations for both children. I also hold the SPINK1 and one of the CFTR mutations, so potentially for myself too. I manage my anxiety on a daily basis, trying to live in the moment rather than worrying about when the next attack might occur. We really hope that further research into pancreatitis, particularly in the area of gene therapy, may in Zaki and Talia’s lifetime, find a cure for this condition.
There is no effective treatment for pancreatitis. There is no cure.
Guts UK is dedicated to finding an effective treatment, a cure for this misunderstood and underfunded condition. We are building a community affected by pancreatitis, comforted in knowing they’re not alone.