Updated: Oct 9, 2018
Francesca May was born August 2015 weighing 6lb 10oz and completing our family of four.
Francesca was always a very quiet baby, very content with herself. Everyone always commented how happy she was in herself, and how much she loved snuggles and playing peek a boo with her big brother.
From around six weeks we noticed Francesca had awful tummy aches and was very unsettled. We later found it was because she had a cow’s milk protein allergy, which also flared extremely bad eczema. Francesca was baby-led weaned, which she really loved, and was breastfed until the age of two.
She always met her milestones just towards the later end of the scale. She also didn't walk until she was nearly 18 months.
Each time we had a health check we always commented on the size of Francesca’s hands, but we were always told she was just petite.
Shortly after her 2nd birthday, Francesca had a sore finger so off we went to the doctors. The doctor we saw had seen something similar before and suggested we may need a paediatric referral to hospital.
As a mother, I then went in search of anything I could find that resembled Francesca in any way. I stumbled across a Facebook group and upon being accepted into this group, we noticed that all these beautiful children had the beautiful red hair and piercing eyes that our daughter constantly gets complimented on.
But more importantly, they also had the small hands, the low basal bridge nose, and small feet.
We began to ask questions and gather information ready for our first appointment at the hospital in November 2017.
The paediatrician was on the same wavelength, and he looked at our homework (as he called it!) and agreed it could well be acrodysostosis. He then started the ball rolling for genetic tests, x-rays, Ent, etc.
“She doesn’t let anyone get in her way!”
The first thing was to have her hearing checked, and we found out that Francesca is moderately deaf. She now wears a cochlear Baha 5 soft band daily, and may have an operation when she's older.
We have also learnt she has a high risk of aspiration due to small nasal and throat passages. She also has a high palate and weak muscle tone in her tongue and jaw.
Francesca also sees a genetic dermatologist for her eczema, as it is a reoccurring issue. She is due to start treatment with steroid injections in October of this year.
She is extremely clumsy and gets very tired, very quickly. She also has possible absent seizures.
Most recently we found out Francesca has a pressure build-up on her optic nerve, which we’re waiting on a lumbar puncture to confirm this.
At the end of August, 16 weeks after Francesca’s genetic DNA testing was sent off, we received our results. Francesca does indeed have the PDE4D gene; acrodysostosis type 2.
This will continue to be a challenge for our family and daughter, but she is a very happy go lucky girl and doesn't let anyone get in her way.
She is currently learning Makaton and developing amazingly. She is due to start nursery round about now, and we cannot wait to see what she can achieve.
As we say, “be more Frankie” 🌟