Demystifying Rare Diseases: Imperforate Anus/Anorectal Malformation
Updated: Feb 17
I'm hoping to do a series of posts about different rare diseases which includes a basic understanding of the disease and also the human aspect to the disease. Hopefully a healthy balance of fact and the human reality. I am not a medical professional and nothing I write should be taken as medical advice. I will be adding in some links to some useful resources.
I thought my first one really should be about something that has severely impacted both my life and now my son's (along with everyone in our immediate family who has helped care for us). There are so many rare diseases out there which the majority of the population have heard nothing about, yet impact so many lives.
While they are called rare diseases and the incidence of these is low, I can honestly say that the numbers and the odds mean absolutely nothing to you when you are the one suffering, other than to make you feel really unlucky. In the case of Imperforate Anus/Anorectal Malformation, the incidence in is one in 5000, but if you are the one, you just wonder why you couldn't have been one of the 4999 people that didn't get it. The numbers are useful for understanding but just because it is rare does not make it any less real for the sufferer.
What is Imperforate Anus/Anorectal Malformation (IA/ARM)?
IA/ARM is considered a congenital birth defect that occurs during fetal development early in pregnancy. During the formation of the anus and the rectum something goes wrong and they are not properly formed. This can result in a number of different types of IA/ARM where: the anus maybe too small or not in the correct location, no anal opening at all and connections to other organs in the pelvis such as bladder, and in females where the rectum, urinary and reproductive system form one single tract known as a cloaca.
There is also an associated condition known as VACTERL association which stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. After the diagnosis of an IA/ARM these are all things that are commonly looked for as well. I won't go into detail about this because my son and I are fortunate to not have any of these other conditions, but if you would like more information here is a link to the National Association for Rare Disorders page on VACTERL association with a lot of details about each aspect of the condition.
This is just a basic run down of the condition but even within these categories, there can be a massive amount of variability, and each variation comes with its own set of added issues and complications. My son and I both had quite different presentation of the same condition which meant our initial treatment was different too (that and we were born 30 years apart).
The condition generally requires a number of surgeries to correct but again this can vary depending on the particular type of condition. Most patients require a colostomy bag from birth like my son had, but I did not. The main surgery required is the Posterior Sagittal Anorectoplasty (PSARP) which was developed by the renowned paediatric colorectal surgeorn Alberto Peña, MD. The development of this surgery has greatly improved outcomes for patients over the years. Here is a link to the Children's Hospital Colorado which includes videos of Alberto Peña explaining the procedure.
My Experience with Imperforate Anus/Anorectal Malformation
I was born with an anus but it was not in the correct position. This meant that it wasn't picked up until I started eating solid food at 4 months of age, my stool became harder to shift and the constipation caused by the condition became more apparent and I was able to be appropriately diagnosed. At 8 months old I had the PSARP surgery to correct the condition. Afterward I had daily dilatations (stretching of the anal opening) because as the scar tissue heals it can constrict the opening. Unfortunately I had to have a further surgery to surgically dilate the anal opening as the daily dilatations weren't quite enough.
I am grateful to this day that I was born after Dr Peña developed this procedure and that I was fortunate enough to have landed in the hands of a doctor who had recently been taught by him. Without this procedure I believe my quality of life would have been much different.
I think the biggest difference between my experience and what we are going through now with my son is the after care. Once I had my surgery, my parents were told I was fixed and to go home because I would be normal now. As anyone else with this condition will tell you, this is rarely the case. My greatest problem was constipation growing up. Although everything was now in the correct place, this did not mean that everything worked the same as it would have if I had been born "normal".
I was on laxatives for most of my childhood and had daily enemas until the age of 11. I have spent more hours sitting on the toilet than I can count. Whilst I knew I had to go to the toilet every day to prevent more more problems, I never had the urge to go. This meant many hours sitting on the toilet, hoping and trying to go but often failing. Before the age of 11 if I couldn't go, that meant an enema. All of this my parents had to muddle through and work out themselves with little to no help or support from doctors.
I just want to slip in here about the impact of spending that much time alone, staring at the same four walls every day/night. You become very familiar with your bathroom at home but you also have to find ways to cope with having to sit in one place for long periods of time. You take a magazine or a book or these days it's your phone, because being left alone day in, day out to stare at a wall is not good for your mental health.
To those who judge people for taking a book or a phone into the toilet and make them feel bad about themselves for doing it, or feel like they are disgusting, maybe stop and think about why they have to do that. Rather than making them feel like crap about a situation they can't control, just hold your tongue and keep your opinion to yourself. It's not your job to judge how another person survives whatever it is they have to go through. What is gross to you may well be survival to another.
My experience with my son being born with Imperforate Anus/Anorectal Malformation
I've mentioned before in previous posts, my son being born with IA/ARM was a massive shock to us and if you're interested in that story, along with others about the condition I encourage you to buy the book Rare and Resilient by Greg Ryan. An amazing anthology with a lot of very personal stories. We were never expecting the past to repeat itself, but have since found out the odds of that happening were one in 200. Again more numbers that left me wondering why we couldn't have been one of the other 199.
My son was diagnosed at birth as his was classed as a high malformation. He had no connection between his rectum and anus at all and so he had a colostomy created when he was just 36 hours old. This was the first of four procedures he had over the first year of his life. He has also had the PSARP surgery done now but the difference was his was keyhole surgery. This makes the recovery time much faster.
He has since had his stoma reversal (the colostomy) and that surgery went well too, but things are not perfect. He has started laxatives and regular enemas, so it looks as though he is going down a similar road to me, but we won't know the full extent of how things really are until it comes time to toilet train. Managing nappy rash is another big problem for us at the moment and adds another dimension to the day to day care.
I'm hopeful I can use my experience and some of the coping techniques I've developed over the years to make things a little easier for my little man, but we can't know yet what his journey will be like. There are still a lot of unknowns with this condition, but I am grateful that attitudes in the medical profession are changing. There is an acknowledgment now that ongoing care and management is required for people with this condition. I feel I have much greater support and guidance than my parents ever received when I was little.
Another thing that has been extremely valuable to me is the support I have received from the One in 5000 Foundation. There is a lot of useful information on their site as well as other patients stories, and if you know of anyone with the condition, please direct them towards the foundation. I have finally found a place I feel like I truly belong.
I'm hopeful this gave you an insight into a condition few have ever heard of and one where most who suffer from it never talk about it. The more we talk about these conditions the better we can support those suffering from them and hopefully start to remove some of the stigma. Thank you for reading and if you are interested in more posts like this one,
please subscribe and share with as many people as you can. These stories are important and should be shared.
Other related posts include: