It took a lot of phone calls and reasoning and patience to finally get them to agree to courier the bloods back to the initial hospital. However, the blood needed to be sent with reams and reams of paperwork and forms. Where were the forms? In my car!!! So I had to drive to the first hospital with the forms to meet the blood there, reunite them with the paperwork before they could finally wing their way to America.
|6 years old and still no diagnosis ...|
- Undiagnosed Children’s Day: A nationwide annual awareness day aimed at raising awareness of undiagnosed genetic conditions and funds for SWAN UK: – this year, our 4th Undiagnosed Children’s Day, is on Friday 29th April. Last year we raised £18,917! Can we make it more this year?
- AnAll Party Parliamentary Group on Rare, Genetic and Undiagnosed conditions – that is an informal, cross-party group of MPs and Peers interested in raising awareness in parliament of rare and undiagnosed conditions with the aim of ensuring patients and families have access to appropriate care and support.
- The World’s First Specialist Nurse for Undiagnosed Conditions – a post created with input from SWAN UK families and funded by Roald Dahl’s Marvellous Children’s Charity, this nurse is based at Great Ormond Street Hospital and will help co-ordinate care for children without a diagnosis.
Larissa KerecukThe UK’s First Rare Disease Centre at Birmingham Children’s Hospital – led by the formidable Larissa Kerecuk, a consultant paediatric nephrologist, Birmingham Children’s Hospital are currently in the process of creating the first holistic Paediatric Rare Disease Centre where multi-disciplinary and multi-speciality rare disease clinics will take place with coordination of care, peer support and better access to research, information and treatment. What this means is, that rather than traveling to numerous hospitals to see various consultants, children with undiagnosed and rare conditions will see all the specialists under one roof.
- Two Rare Disease and Genetics Nurses – also funded by Roald Dahl’s Marvellous Children’s Charity, these two key nursing roles, based at Birmingham Children’s hospital and linked to the new rare disease centre, will be recruiting patients with undiagnosed conditions to the pioneering 100,000 Genomes Project, which is aiming to develop a new genomic medicine service in the NHS – transforming the way people are cared for. They will also offer vital support to families with conditions without a firm diagnosis and work on setting up the country’s first SWAN (Syndrome without a Name) clinics.
- The first SWAN Clinic took place at Birmingham Children’s hospital on 20th April. This was the first of many SWAN clinics held at the hospital and will ensure that patients with undiagnosed conditions have access to the latest genetic research and a coordinated care plan. Eventually these will be carried out in the purpose built rare disease centre.
Come and join in the fun at Birmingham Children's Hospital and help celebrate Undiagnosed Children's Day on Saturday 30th April 2016: