June is Apert Syndrome Awareness Month – a disorder which affects one in 65,000 people in the UK. But whilst it’s rare, there are still some common misconceptions about it. Kaddy Thomas runs Elijah’s Hope a non-profit organisation (www.elijahshopeforapert.org) helping to raise awareness around Apert Syndrome and providing support to those affected by it. Here she outlines seven things she originally didn’t know about the condition and what you can do if you have been affected by it:
Kaddy Thomas and her son
When I was born with Apert Syndrome in the late 60s, even my doctors didn’t truly understand what the condition was (thankfully, the world has moved on since then!).
They gave my mother a bleak picture of my future and, feeling unable to cope, she eventually surrendered me to the care system around my first birthday.
Through countless childhood surgeries at Great Ormond Street Hospital, I learned more about Apert. However, it was becoming mum to a child with Apert that taught me most about it. Here are seven things you might not know:
1. Apert Syndrome is incredibly rare
Before my son Elijah was born in 2006, I’d never met anyone else with Apert, so I always knew it was rare.
In fact, about one in every 65,000 babies is born with Apert Syndrome. It is a form of complex craniosynostosis, which means that it’s a condition where more than one skull suture (the seams between the skull plates) fuses too early.
2. Apert is caused by a mutation in a specific gene
Apert Syndrome is defined as a genetic disorder because it’s caused by a mutation (change) in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene.
This affects how certain cells in the body – including bone cells and the craniofacial sutures – grow, divide, and die.
In most cases of Apert Syndrome, this cell mutation happens sporadically, meaning that there’s no family history of Apert. However, if a parent has Apert, there is a 50% chance of their children having the condition too. Elijah inherited the Apert Syndrome gene mutation from me.
3. Apert Syndrome makes our airways narrower
When Elijah was born, he had difficulties breathing, especially when he was feeding. I wish I had known to expect this.
Elijah experienced these difficulties because Apert Syndrome causes the ‘coronal’ sutures in the skull to fuse before birth. This means that the skull ends up being short from front to back but wide from side to side. This results in the flattening and underdevelopment of the mid-face, including narrower airways.
4. Apert can cause hearing impairment
It’s not just our airways that are affected by that premature fusing of the coronal sutures. Most people with Apert Syndrome have some level of hearing impairment because our ear canals are narrow and prone to getting blocked or infected.
5. Apert Syndrome can affect your eyes
Another consequence of the early fusion of the coronal sutures is that it tends to make the eye sockets shallower and widely spaced. People with Apert Syndrome may have bulging eyes and experience problems with dryness, closing their eyelids properly, vision and more.
6. Apert Syndrome affects mobility
A unifying characteristic of Apert Syndrome is ‘complex syndactyly’ of the hands and feet. This means that our fingers and toes are either fused or webbed.
Although many people with Apert Syndrome have surgeries to separate their fingers and toes (more about this in point 7!), complex syndactyly can affect how we walk and impact on our mobility to some degree.
Now in my 50s, I’m definitely experiencing more aches and pains due to how my feet are shaped!
7. Most people with Apert Syndrome have multiple surgeries
Since meeting people with Apert Syndrome and raising a child with the condition, I’ve come to appreciate the huge range of surgeries that may be offered.
Almost all children with Apert will undergo surgery on their fingers while they’re toddlers. This is to ensure that they have that all-important pincer grip between the thumb and forefinger.
Other surgeries will depend on the child’s individual case. Elijah, for example, needed bone distractors to stretch his skull plates to relieve pressure on his growing brain, whereas I didn’t.
Some surgeries are life-changing or even lifesaving, while others are cosmetic. Most surgeries are performed during childhood and adolescence.
What to do if you’re affected by Apert Syndrome
If your child has been diagnosed with Apert Syndrome, it can be overwhelming at first.
Although the condition has some common characteristics, other symptoms vary hugely from one person to the next. This makes it hard to know what to expect.
You should be referred to a craniofacial team who will monitor your child’s progress.
If you have a newborn with Apert, make sure their breathing is monitored when they’re feeding. It will give you peace of mind!
There are some wonderful online Apert communities connecting individuals and families throughout the world. Rare Connect and Elijah’s Hope for Apert are great places to start and can point you to further resources and support.