BiographyDue to nuances in pregnancy and following a natural birth her initial paediatrician suspected that Maisie had a rasopathy and provided an initial clinical diagnosis of Noonan Syndrome.
Following genetic testing, it was identified that Maisie had something much rarer - CFC Syndrome.
Maisie was diagnosed by a Genetic Counsellor in January 2020 with Cardio-facio-cutaneous Syndrome. The variant that Maisie has is in her BRAF gene -
c.770A>G p.(Gln257Arg).
CFC Syndrome is a rare genetic disorder affecting around 800 people globally. It affects many parts of the body, but in particular the heart (C - cardio), face (F - facio) and skin (C - cutaneous).
Initially Maisie was labelled failure to thrive and had gastro-oesophageal reflux which naturally made failure to thrive much worse.
Gradually more and more appointments began once the official diagnosis was made, in-line with the CFC Parent Guide. This included an atrial septal defect and pulmonary stenosis; the former thankfully closed up on its own and the latter is monitored 6 monthly for changes.
Currently, (Feb 2022) Maisie is 2yrs 6months and is 10.3kg in weight and 78cm in height. Her gross motor skills have reached a solid 12 months, with some aspects at 15 months. A whole team of medical professionals see Maisie on a regular basis and these include her Portage PIP, Paediatrician; SALT; Dietician; ENT and Audiology; Cardiologist; Occupational Therapist; Physiotherapist and at the end of March 2022, we will add to the many appointments with the addition of a Sleep Clinic.
Maisie has recently started to take steps with her walker and we are still working on food, Maisie is eternally weaning and reliant on formula. Her verbal communication is very limited, but we are all learning Makaton to help with this and Maisie is beginning to get the hang of some of the signs too.
We had a bit of a fright last year and following several vacant episodes feared that Maisie may have the beginings of epilepsy, however we were relieved that the EEG came back negative and the consultant was satisfied that at that point, no epilepsy was present (45% prevalence of this with CFC Syndrome). However the consultant was concerned that they may be linked to Maisie's lack of sleep - Maisie wakes normally every hour, doesn't nap and sometimes doesn't sleep at all at night. It just seems that Maisie doesn't need it!
Maisie's many labels help her to get the support that she needs and monitor her ongoing medical diagnoses, for which we are eternally grateful.
It has also enabled us to engage with CFC International, the dedicated USA based charity for CFC Syndrome and access valuable knowledge, events and their ever supportive parents private Facebook group.
Maisie has no idea of her diagnosis or the challenges that she may face and this doesn’t matter because Maisie does everything at her own pace and we are all here to help facilitate whatever we can and when. Due to her delays, we have been able to observe every new skill much slower than a neuro-typical child (like our Son, Arthur, 9yrs) and realised that normally these changes would happen so fast - ‘blink’ and you miss them.
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