Jackie’s daughter

Jackie’s daughter: 17 years old in 2011

Location: UK

Symptoms:

Mom was induced at 38wks because baby was IUGR (slow to grow in utero) and baby was born through ventouse delivery

- Birth: non congenital talipes in both feet (club foot) – feet strapped until about 1yr
- 1 month: chronic constipation (currently on sodium picosulphate) and failure to thrive (until about 12yrs) – developed umbilical hernia which closed at about 3 years old
- 6 months: lactose intolerant (milk free diet until 5yrs) and gastric reflux (medication: cissapride – until 18mths and various antacids since)
- 7 months: pneumonia & collapsed lung (tested for Cystic Fibrosis)
- 5 years: asthma (currently on Flixotide & Ventolin)
- 6 years: still lower than 5th percentile graph for weight/height – noted hypotonic, abdominal migraine, bowel biopsy for Hirschprungs (negative), referred to psychologist for severe anxieties
- 7 years: migraine (questioned possible petit-mal with Paed -dismissed)
- 10 years: still lower than 5th percentile graph – x-ray of hands showed late developer      - 11 years: referred  for swallowing disorder (Paed thought she had anorexia) – Barium meal showed red/soreness at base of gullet (home tutored for 18 months)
- 12 years: ASD (autistic spectrum disorder) – Aspergers best fitting her difficulties, severe anxieties, panic attacks, OCD, motor co-ordination difficulties
- 14 years: epilepsy – complex partials (currently on Keppra although not fully controlled) and non-epileptic events, noted as small hands and feet
- 15 years: PVNH – from MRI scan (extensive sub-epidermal grey matter heterotopia) bloods sent to NZ for testing, hyper mobile joints in hands/feet, wrists/elbows/shoulders/knees, flat feet/pronated feet bilaterally and probable gastric motility. Organising and sequencing difficulties. Prescribed Lorazapam for her anxieties (self harming increased) and Fluoxetine for depression (currently not on this medication but medics are looking into possible re-introduction)
- 16 years: confirmed Filamin A gene alteration (mom and dad – blood tests negative – probably first time mutation but told by geneticist that it could have been an alteration in egg/sperm) 
- 17 years: referral for heart scan and geneticist preparing report/case study for medical journal
- Other notes: Extremely bright – however, difficulties in social/communication, limited understanding and rigid thinking. Psychological issues: aggression/self-harming. Recurrent chest and ear infections throughout childhood. Currently under Psychiatrist (Adult Mental Health Service), Neuro, Geneticist, OT and Paed. No family history of epilepsy or other difficulties/medical problems (except asthma).

Tests:

Negative: Coeliac disease and thyroid 

-Diagnosis: ASD at 13 and PVNH confirmed at 15 with FLNA mutation confirmed at 16 years old