One of the common gripes amongst the diabetes community is the constant misconceptions. These range from the ignorant "you must have fed your child too much sugar" type of comment from the know-it-all mother at school to the well-meaning but exasperating "my friend's cousin's postman's gran's diabetes was cured by meditation and bathing in yak wee" type of comment.
It's frustrating when these come from friends, more so when they're from relatives, and disappointing when they come from ill-informed journalists in newspapers or on TV. And sadly sometimes even the professionals get it wrong:
While googling Finlay's condition I read a piece written by a professor of gastroenterology about diseases of the pancreas. It was a short, informative piece that covered conditions like cystic fibrosis and other inherited disorders. At the end he included this little gem, "In extremely unusual circumstances a child may be born without any pancreas.......This problem is not compatible with life"
Now Finlay clearly hasn't read this particular piece as, thanks to various medications and a lack of sleep on our part, he doesn't seem to be having any compatibility issues with life.
Now imagine you were a parent of a newborn baby that was diagnosed with an absent pancreas. The first thing you do (once you pick yourself off the floor and pull yourself together) is to hit the internet to find out anything you can. And with a rare disease like this there's not much out there. So it's not that hard to come across the article above. I did. I'd hate for anyone in the position we were in a few years ago to come across that kind of comment.
I think this is probably an old piece that just gets regurgitated from time to time but I think when experts give their names to articles on the internet there is a duty to ensure they are correct and up to date.
This professor has an impressive track record, particularly researching cystic fibrosis so I have huge respect for him but I do want him to correct the piece. So here's the letter I sent in March. It's a bit heavy on the science but I thought that might appeal to his academic nature. So far, no reply. I've removed the name and a few identifiers as it's perfectly possible that his PA deleted the mail and he's never read it so I don't want a witch hunt. But it would be nice to get a reply....
I recently came across a short piece you provided for the XXXXXXXXXXXX entitled "Inherited Pancreatic Disorders of Childhood". At the end of the article you state that being born without a pancreas is not compatible with life. I note that the article was posted on April 8th 2010. Coincidentally this was my son's 2nd birthday. He was born without a pancreas.
While your assertion was true at one point there are now a growing number of children surviving with this condition. The exocrine insufficiency can be treated with enzymes in the same way that you treat your CF patients while insulin therapy can overcome the lack of endocrine function. While treatment, particularly in the initial stages is far from easy, technological advances such as insulin pump therapy allow for better outcomes for these children.
The earliest record of long-term survival following pancreatic agenesis dates back 30 years (Howard et al, 1980, J. Pediatr. 97: 786-9) and while that case may be considered an outlier, the prospect for children born without a pancreas has improved greatly since the 1990s. I conservatively estimate that the number of surviving cases runs into the teens, and possibly higher. Personally I am in electronic contact with the parents of 4 others.
Currently, mutations in two genes have been shown to cause pancreatic agenesis. PDX1 was first linked to the condition in 1997 (Stoffers et al, 1997, Nature Genetics 15: 106-10). Homozygous, or compound heterozygous, mutation of this gene has been found in at least 3 cases, all of whom survived the neonatal period, and one of whom I know is continuing to thrive into his preschool years.
PTF1A homozygous mutations have been found in children from two distinct consanguineous families. Sadly these cases have also presented with cerebellar agenesis and they have all , indeed, proved incompatible with life (Hoveyda et al, 1999, J Med Genet 36: 700–704; Sellick et al, 2003, Diabetes 52: 2636-38; Sellick et al, 2004, Nature Genetics 36: 1301-5).
There is also a group, including my son, for which no causal mutation has been found. These children can have a range of associated conditions including gall bladder agenesis, cardiac defects, duodenal malrotation and others. This group includes a number of surviving children.
I raise this issue not as the pedantic ramblings of an irate father but out of concern for future parents of these children. When a child is born with a serious medical condition one of the first things most parents do nowadays is to enter the condition into an internet search engine. This is particularly true when the child has a very rare condition where the doctors treating their child may not have the answers they need. At this stage of their journey the parents are likely to be emotionally and physically drained and the last thing they need is to find a website with outdated or incorrect information telling them that their child is going to die.
I hope that for future articles you may write, and previous ones if you are able to edit, you could say that although serious, being born without a pancreas can, in most cases, now be treated with insulin therapy and enzyme supplements.
May I finally thank you for your research. Despite the reason for my email, as the parent of a child with pancreatic exocrine insufficiency who has benefited from research such as yours into diseases such as CF, I appreciate the work that you and your colleagues do.
With kind regards