Sunday 28th February 2021 marks this year’s annual Rare Disease Day. With the strapline, “Rare is many. Rare is strong. Rare is proud”, I wanted to talk to you a bit about my own experience of living with a rare condition.
As those of you who know me in person or who follow this blog regularly will know, I was born with Apert syndrome, as was my 14-year-old son, Elijah.
What is Apert syndrome?
The human skull is made up of several plates that, when we’re born, are loosely held together with special joints or seams known as sutures. These seams allow the skull plates to move and expand to make room for a child’s growing brain.
Over time, the sutures harden or fuse, holding the plates firmly together. Some of these seams fuse later than others, once skull has finished growing.
When a child has something called “craniosynostosis”, it means that the sutures fuse before birth.
Apert syndrome combines “complex craniosynotosis” (the fusion of more than one suture) with a collection of other symptoms typically seen together (this is what the word “syndrome” means).
The unifying feature of Apert is that the so-called “coronal” sutures fuse before birth. This means that the skull ends up being short from front to back but wide from side to side.
Other sutures may also be affected from birth or later in childhood as the skull grows.
People with Apert syndrome usually find that their facial bones are affected too. Typically, the cheekbones and upper jaw don’t grow in proportion to the rest of the skull.
Our eye sockets are wider spaced and shallower than usual, which causes the eyes to bulge outwards.
As well as the skull and face, people with Apert have “complex syndactyly” of the hands and feet. This means that our fingers and toes are either fused or webbed.
No two cases of Apert syndrome are identical
Although I’ve described the main defining characteristics of Apert syndrome above, the condition can also include a wide range of other symptoms such as:
- Hydrocephalus, sometimes requiring surgery to relieve the pressure on the brain
- Narrow airways, often causing repeated sinus infections and sleep apnoea
- Hearing, vision and dental problems
- Cleft palate
- Heart defects
- Gastrointestinal and urinary problems
- Hyperactive sweat glands
- Delayed developmental milestones or learning disabilities (affecting approximately 50% of children with Apert, although they will often catch up with their peers)
- A condition called Chiari malformation, where the base of the brain is squeezed by malformed bones in the neck (very rare)
From being involved with several online Apert support and awareness groups, it’s certainly the case that no two cases of Apert syndrome are identical.
Surgeries for Apert syndrome
There isn’t a cure for Apert syndrome. Instead, every person is treated on a case-by-case basis.
Most people with Apert will have some sort of craniofacial surgery during their childhoods to reshape the skull or face.
Surgery to separate fused fingers is usually carried out in phases. The most crucial surgery is the one that allows a pincer grip between the thumb and index finger. Toes are often left as they are unless they’re causing mobility problems.
Other surgeries to improve midface problems are usually carried out in late childhood. These surgeries aim to reshape the eye sockets and cheek bones, for example. Some people need multiple surgeries to make further corrections as the bones continue to grow throughout adolescence.
Children with Apert often experience frequent ear infections and some hearing loss, so it’s common for grommets to be put in to help remove fluid in the ears. Orthodontic braces can also improve overcrowding of the teeth or speech.
If a child with Apert develops hydrocephalus, they will need to have a shunt fitted to divert the blocked cerebrospinal fluid to their abdomen.
My experience of Apert
Even as a mother and son, Apert syndrome has affected Elijah and me in very different ways.
As is fairly typical for someone with Apert, I needed some surgeries throughout my childhood. These were mainly to address the fusing of my fingers and toes and, later, to build up my cheeks to give more depth to my eye sockets. I also had to have grommets fitted to help with my ongoing ear infections.
As an adult, Apert mainly affects my vision, my hearing and my nasal airways. I also have some aches and pains in my bones but my health is generally good.
As an infant, Elijah was born with a heart murmur, a cleft of the soft palate, reflux and asthma. He needed some different surgeries to me – for example, to have his twisted intestines corrected.
When he was eight months old, an MRI showed that Elijah would need surgery on his skull plates to make room for his growing brain. At 14 months, he had bone distractors fitted to stretch the bone plates apart and relieve the pressure.
Unfortunately, it was as a result of this procedure that Elijah developed a post-surgical infection that caused catastrophic brain damage. This led to many complex health issues, including epilepsy, hydrocephalus, neuromuscular scoliosis, osteoporosis, hip dysplasia, high muscle tone, cerebral palsy, ongoing chest infections, hearing loss and visual impairment, to name but a few.
Although Apert isn’t the direct cause of these issues, they are a consequence of being treated for the condition.
Living with Apert Syndrome
Since Elijah’s brain injury, I have been a full-time parent-carer and now manage a large care team. This is due to Elijah needing two-to-one medical care at all times, including nurses who are tracheostomy trained.
We have spent most of the COVID pandemic shielding as Elijah, in particular, is extremely clinically vulnerable but we both have to be wary of illnesses that might affect our airways.
Although Elijah has complex health issues, we always need to be mindful that he has Apert Syndrome too. Sometimes that can get lost in the sea of challenges but it’s important that we keep an eye on his bones, heart, eyes, ears, nose and teeth from an Apert perspective.
I haven’t met any other families where a parent and child both have Apert, despite the strong genetic link. I think that makes Elijah and me quite rare in our own right. But then we always have been a rare and unique team and Apert is just one of the things that binds us.
Find out more aboutRare Disease Day 2021 here. While rare diseases are uncommon by definition, it’s estimated that 1 in 17 people in the UK lives with some form of rare disease. Let’s get people talking!