VACTERL Syndrome, or VACTERL Association, is a very rare congenital (appearing from birth) condition that affects between 1 in 10,000 - 40,000 newborns in the UK. Frustrating though it may be, the condition is hard to diagnose as it is what is known as a diagnosis by elimination. It is a cluster of symptoms that if there is no other underlying cause found, VACTERL Syndrome is designated the cause. The name of the condition is made up of the initials of the symptoms: V, for vertebral defects – in 60-80% of children with the condition, in which their vertebrae may be misshapen, fused, missing etc. A for anorectal anomalies – meaning that the anus has not formed properly and the child may have difficulty passing faecal matter unaided. C for Cardiac defects – the severity varies from child to child but most commonly is to have a ventricular septal defect, ie a hole in the heart. T is for Tracheo-oesophageal fistula / oesophageal atresia – these are problems with the oesophagus that often lead to difficulties in getting food to pass from the throat to the stomach. R is for Renal abnormalities – these can vary greatly but will often include an absent kidney, or kidneys that are not formed properly. L is for Limb abnormalities – these are most often in the thumbs, hands or forearms.
Chloe was diagnosed as a child and has been dealing with the difficulties of this syndrome since birth, as well as with the fight for it to be better understood. Take a look at her first-hand account of what it is like living with VACTERL syndrome.
My name is Chloe, I’m 22 years old, a childcare assistant and this is my story with the rare condition VACTERL Syndrome. Whilst this has had a huge impact on my life and the lives of those around me, it has definitely not stopped me from living the same life as any other 22 year old and enjoying my hobbies include spending time with my friends, supporting Manchester City, playing pool and music.
I’m still trying to completely understand this condition myself and most of my discoveries have only been recent. Having grown up being the only person that I knew with VACTERL Syndrome, I had very little information on the condition. This condition is a congenital birth defect, (cause unknown) which can on occasions be diagnosed through scans before birth but usually it isn’t diagnosed until soon after birth. The letters stand for Vertebral defects, Anal anomalies, Cardiac defects, Tracheo-Oesophogeal defects, Renal abnormalities, and Limb defects. If you have three of more of these characteristics from birth, then this will result in you being diagnosed with this ‘umbrella’ condition.
My dad has been my rock throughout this journey and I couldn't have done it without him, especially since my mum died when I was little. My parents were told by the local hospital that things were not right during a pregnancy ultrasound, though they weren’t given specific information. Soon I arrived under a cloud of chaotic energy. They had seen in the ultrasound that my thumbs didn’t look right, and when I was born with floating thumbs this was confirmed (L, check!). This meant that the joint attaching my thumbs to my hands wasn’t there. I later had a surgery to remove my thumbs and replace them with my index fingers.
(Above picture shows Chloe's thumbs before they were operated on).
Doctors soon after my birth uncovered a heart murmur (C, check!). This was operated on and all seems to be fine now.
Finally, the bane of my life was then discovered. My kidney was so upset about being the only one in my body that it decided to cause a lifetime of problems. I had a vesicostomy as a child, a procedure to help drain my bladder by creating an opening between my bladder and abdomen as I was struggling with repeated bladder infections and UTIs. This is normally a temporary procedure done whilst doctors figure out what the underlying cause is. Because my local doctors were struggling to figure out what was causing it, I was admitted to a larger hospital. A surgeon there who remains a huge part of my life told my parents about VACTERL. After lots of early 2000s internet searches and more scans, VACTERL Syndrome was written in bold letters across my medical records and countless hospital letters.
Since then I have started to fondly call my one kidney Graham, and he continues to be my biggest trouble. I have so far disowned him three times in the past year alone due to infections and general issues. Mentally this, and pretending that I don’t need him and his problems anymore, helped me to deal with the difficulties.
Fast forwarding to 2018, almost ten years since my stoma/vesicostomy had been reversed. I hadn’t had a kidney infection in about 6 years and I had started to think that all of that was behind me. I had been on prophylactic antibiotics for a while and was excited to be told I no longer needed them. Silly me, as all was not over. I came home from college one day trembling and with a temperature. It didn’t matter how much time had passed I knew exactly what it was. I was too old to go to the doctor that had previously treated me, so it was back to the local hospital for IV meds and recovery. This soon became a frequent experience. Although I wasn’t an adult yet, the previous hospital that had treated me thought it would be best if I was treated at my local hospital, this became very frustrating. VACTERL Syndrome is so under-researched and there is such little understanding that I had to tell the doctors what to do and what was happening every three months or so when I ended up back with another kidney infection.
Eventually in 2021 they gave up. I was heartbroken. I will never forget the phone call where I was told ‘we’ve run out of options and we don’t know what to do, but you’ve not got a kidney infection now so it’s all fine.’ I don’t think my age helped me. I think that my doctor’s interpreted my fighting for better care as simply the whining of a 19 year old girl.
I joined a VACTERL Facebook groups and ranted about the problems that I’d been experiencing. One of the other members recommended a different hospital, so when my next kidney infection cropped up my dad drove me to this A+E department instead and there care was far better. After many calls and messages from both myself and other healthcare professionals , I found myself treatment at another hospital.
This brings us to the present day. Whilst the current hospital are conducting more tests and are generally faster in both this and in their A+E, the backup from Covid is still huge, and a lot of my appointments are often delayed. Many times I’d get upset and defeated by this, but it’s happened so frequently now that it has forced me to stop worrying about it. My kidney infections are less frequent this year; I’ve only been hospitalised once with a mild infection. It’s taken up far too much time and happiness worrying, so I’ve decided to simply stop letting it run my life. If it gets bad again then we’ll see but for now, I no longer plan my life around having infections and instead just try to enjoy the time off I get.
More recently my thumbs have been causing me pain, as I have had physical jobs throughout my adult life. I had a cortisone injection though I don’t know if it actually helped or if it was just the pain from the procedure wearing off, but the relief didn’t last long. The doctors aren’t sure why and pass around my x-rays but I’m trying not to let it get to me, especially as at the moment I can do anything a normal thumbed person can do.
I wish more than anything that VACTERL was more widely known about. Doctor’s do not seem to know enough about it and they ask silly questions at scans like ‘where’s your right urethra tube?’ or ‘are you sure you don’t have another kidney?’. If you looked at my shortened version of my medical list you’d know that I only have one and yes I am certain that Graham is chilling on his own. It gets frustrating having to explain to doctors what it is and even my friends don’t know what it is. Many people I talk to do not have any understanding when I talk to them about my condition.
We hope you enjoyed this guest article and found it informative by raising awareness for VACTERL Syndrome. You can find more information on VACTERL Syndrome by visiting The Great Ormond Street Hospital for Children's website, or for support please visit the VACTERL Association Support Group.