Francesca, aged 4, has Acrodysostosis. A rare genetic disorder which affects many parts of her body. She has skeletal problems, can’t walk any distance, is fed through a tube, has global developmental delay, hearing loss, serious neurological problems and has had brain surgery, plus suspected heart issues.
Francesca was born healthy and passed her new-born checks. During her pregnancy, Mum Kim Stanley, 26 from Nottingham had an extra blood test, as her 12-week scan had detected an irregular amount of fluid at the back of her baby’s neck – which can be a sign of Downs’ Syndrome or another genetic disorder. The tests came back clear and Kim didn’t have any further screening.
At her one-year health check, Francesca was not attempting to stand or walk. She was small in stature with petite features. She was still not talking.
Kim and fiancé Alex were concerned, but reassured by their health visitor that Francesca was just small– that was until her finger became infected and a visit to the GP started the ball rolling for Francesca’s diagnosis.
Kim took two-year-old Francesca to her family GP to get some antibiotic cream. Whilst there the GP noticed how small her hands and feet were, pointing out a flat nasal bridge and asked if she had seen a specialist. The GP had only seen these signs once before, in a child with the genetic disorder acrodysostosis. She referred Francesca to a paediatrician.
Kim, says: “I went in with an infection on her finger and came out thinking there was something wrong with our child.
“I searched online and found the support group Acrodysostosis Support and Research. I looked through the family stories and the first girl I found was three and she was the double of my Francesca. She had the same distinct nasal bridge. Acrodysostosis seemed to be fitting with Francesca’s facial features. I also found a family living less than ten miles away – incredible as there are less than 100 people with acrodysostosis in the world!”
In December 2017, Francesca, then two, was referred to a paediatrician at the Queen’s Medical Centre in Nottingham. Kim says: “I handed him our research on acrodysostosis, and he laughed, said we’d done a good job and he agreed with us. We thought her lack of speech was due to a hearing problem, so the doctor referred her for an assessment for a hearing check. She had hearing loss and needed a BAHA hearing aid.
“The doctor compiled a detailed case history and referred Francesca to the City Hospital in Nottingham. In the Summer of 2018 consultants from Nottingham, Sheffield, Birmingham and London all met to discuss her case. Francesca had lots of tests and the results came through in August. There are two types of the genes, one PARKA1A and Francesca had acrodysostosis type 2, PDE 4D gene. We were told if she had a baby, there was a 60% chance that Francesca wouldn’t be able to carry a child and an 80% chance her child will have the gene. She will see a geneticist when she is 14. All of a sudden we were on a rollercoaster and we haven’t got off.”
Francesca’s is a de novo case, meaning no one else in the family has it. Kim’s son Archie, seven, is unaffected.
For Francesca, the genetic disorder causes multiple complex health problems. She has skeletal dysplasia, a condition which affects the long and short bones in her body. She has had two fractured legs and is awaiting a DEXA bone scan for osteopenia. She has characteristic red hair – in contrast to Kim’s brunette and Alex’s jet-black hair, with piercing blue eyes. She has a small jaw, high palate, a distinctive nasal bridge, small sharp teeth and is small in stature. She also has optic nerve swelling and hearing loss, severely inflamed eczema, suspected autism, sleep apnoea and serious neurological issues. She sees a physiotherapist, an occupational therapist and a speech and language therapist.
Worse news was to come in the summer that Francesca was diagnosed. She started to have what appeared to be episodes of absence seizures, freezing for up to a minute, ten or 20 times a day. An ophthalmologist detected a huge amount of pressure behind her eyes and Francesca had an urgent MRI scan.
For the next nine months Francesca had many neurological procedures and appointments, but doctors were baffled. Meanwhile, if the pressures didn’t come down in her eyes it could result in blindness.
Finally, in May 2019 the couple asked for a second opinion and saw neurologist Mr McArthur at Queen’s Medical Centre. That week, she had brain surgery to insert a bolt in her skull to measure cranial pressures.
“That hit us hard,” Kim recalls. “She was only three. It was surreal and scary. After surgery she was in hospital, with a bolt in her head, attached to wires, plugged in to a machine. At night the pressures in her brain were scarily high. 48hrs later she had four-hour surgery to insert a shunt to balance the pressures.
“Three days after the surgery she stopped eating. We had no clue why. Most kids with acrodysostosis suffer with obesity. Whenever we gave her food, she would either gag, choke or just refuse. She’d cry in pain. Soon we could feel her ribs. She has ended up with a food aversion. She was referred to a gastro team and has been Peg fed since December 2019.”
Despite her medical needs Francesca started in the Reception class of a mainstream school, with one-to-one assistance. She has global development delay but is doing well in school. Francesca uses a wheelchair to get to school – just 400 yards from her house – as due to muscle weakness hypermobility, low tone and respiratory issues, she can’t walk well and is in pain.
“I do sometimes feel I can’t cope, as does Alex,” Kim says. “But if we don’t keep going, we’ll never get back up again. We take a look at Francesca and how she just gets on with whatever is thrown at her, so who are we to complain. There are so many medical appointments. In December she was so poorly she had a second bolt in her head and then we were told she has a few irregularities in her heart causing blocks, which is a problem with the heart’s rhythms. In March she had an emergency replacement of her feeding PEG.
This year Genetic Disorders UK’s annual fundraising campaign, Jeans for Genes Day, hopes to raise funds to support Acrodysostosis Support and Research’s Family Fun Day.
Kim says: “For us, the charity Acrodysostosis Support and Research has been a lifeline and the family fun day is so important. Meeting other parents who are going through the same thing is brilliant. It is such a rare disorder, they understand what it is like, what we are going through. Francesca meets children who look like her and siblings get to mix with other siblings who understand.”