Challenges facing families after a rare disease diagnosis
Cambridge Rare Disease Network talks to Karen Whitehead about the challenges of parenting, living and working with a rare disease diagnosis within the family.
Kate Whitehead was 28 when she was told that she had Pregnancy Associated Osteoporosis which is a very rare form of osteoporosis, sometimes leading to extreme bone mass loss. In most women, osteoporosis will partially or fully recover spontaneously after the pregnancy. For Kate, it meant decades of living with an invisible disability.
Osteoporosis literally means ‘porous bones’ and can be a severely disabling disease. Each year it causes hundreds of thousands of hip and other fractures in the UK alone. For Kate, it meant also that she had additional worries about being able to be a good parent or if she could consider any future pregnancies. Even more worrying was what would it mean for Kate’s daughter. Kate explains
“What is also unknown, is the impact on our children, of this bone disease. Addenbrooke’s hospital also took on my daughter as a patient, when a dexa scan showed she had osteopenia in her 20s”.
Kate was very fortunate in being referred to the Addenbrooke Hospital under the Metabolic Bone Disease Unit where she remains a patient to this day. As advances in genetic testing become more available this can provide much-needed support to families. Kate was delighted to be able to take advantage of more available testing and treatments.
“Addenbrookes enrolled us both in their GEL genetic research and also the UK’s 100,000 genome research project. However, although I was incredibly worried when she fractured after a fall recently, all our family were delighted to hear that her latest dexa showed she had normal bone density for her age. The impact on our children of this rare disease remains unknown, but where most cannot obtain dexa scans, my daughter’s latest medical information has truly given hope to so many other PAO mums & their children”.
Whilst Kate and her husband have moved to be nearer to their daughter, she has maintained long-distance Addenbrooke’s hospital support which is still very important for her and her family.
Sadly, Pregnancy Associated Osteoporosis continues to remain a rare, unknown disease. However, there is now progress being made to better understand this debilitating condition and offer hope to new mums. For the first time in 30 years, there are two major new UK research projects, the Royal Osteoporosis Society funded project at the University of Edinburgh and also the Royal National Orthopaedic Hospital in-house funded project. Furthermore, PAO is also now included in the Rare Undiagnosed Disease Study study of rare bone diseases, by the University of Oxford. These research projects will set the future for better detection, prevention and care. Kate fully recognises this importance.
“I believe that Addenbrooke’s hospital Rare Bone Disease Clinic has one of the largest clinical groups in the UK of patients with pregnancy-associated osteoporosis and they are fully supporting the new research and helping their patient participation, by arranging blood tests and providing patient data to the research teams. I recently met up with some of the young mothers with this disease, when I was last in Cambridge for my annual clinical consultation. It was so upsetting to learn these young mothers are still facing a terrible diagnostic odyssey, over 30 years since I was diagnosed with such difficulty. This particular rare disease truly needs to be diagnosed quickly, to prevent further harm to both mothers and their babies.”
Addenbrooke’s is also supporting the Pregnancy Associated Osteoporosis group of patients and Cambridge Rare Disease Network, in currently trying to raise awareness about this condition. At present, there is a new campaign being held around Rare Disease Day 2023.