A 29 week pre-term female infant, Molly (not real name), was referred to our multi-disciplinary Metabolic Bone Disease Service at the age of 19 months, with a combined diagnosis of inherited osteogenesis imperfecta (OI) and cerebral palsy (CP) spastic quadriplegia, resulting from a intra-ventricular haemorrhage at 7 weeks-old.
Diagnosis of OI was confirmed at birth following fractures. Molly was treated with IV Pamidronate from the age of 6 weeks at a local paediatric centre but had limited intervention from local community professionals e.g. physiotherapy. Reports of poor compliance, non-attendance and poor physical outcome brought Molly to our door. Prior to our meeting of her we had low expectations for function and progress, and high expectation for possible tone related fractures, severe deformity, and difficulty in achieving a positive outcome for this child.
This case study describes Mollys journey within our service; highlighting the challenges with the combined diagnosis and the complex therapeutic strategies and collaborative multidisciplinary approach used to manage her clinical symptoms and facilitate her development in all areas.
Molly is now 4 years 8 months old, and along with 12 weekly IV Pamidronate with medical review, receives regular intervention from our wider team; i.e. physiotherapy and occupational therapy, specialist nurses, orthopaedic and spinal surgeons, social work and psychology. Molly attends mainstream primary school with support, and is independently mobile in a lightweight self- propelling wheelchair using both hands near to equally. Prior to her recent orthopaedic surgery, Molly could stand with minimal assistance, and has made a surprisingly encouraging start towards an independent life ahead of her. Who could have predicted this outcome? There is very little literature describing this combination of bone fragility and increased muscle tone in the body. Can we prevent one impacting too greatly on the other?
Disclosure: The authors declared no competing interests.
27 Jun 2015 - 30 Jun 2015