Challenges facing families after a rare disease diagnosis

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”.

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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”.

 For me, the wheel has now come full circle, my daughter is newly married and I am looking forward to becoming a grandmother. Now, thanks to Addenbrooke’s hospital care, I will be able to pick up and cuddle my grandchildren and play with them – to do things with my grandchildren I was unable to with my own child.
Karen Whitehead

Rare disease patient

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.


Living with a very rare bone condition

Living with a very rare bone condition

Pregnancy is normally a time of excitement for mums to be. But for some, it is a catastrophic event due to a rare condition called pregnancy-associated osteoporosis (PAO). As Karen Whitehead, herself felt.

‘27 years ago, I was about to have my first baby. My husband and I were excitedly anticipating our new family life. Instead, I experienced back pain during the last few weeks of pregnancy and my spine collapsed in labour, leaving my back broken in four places and me three inches shorter. However, nobody in the hospital would believe anything serious was wrong and I was discharged home 24 hours after giving birth’

When we think of osteoporosis, we often associate the condition with older members of our society, rarely expecting pregnant women to be affected. PAO is a severe type of osteoporosis that arises during pregnancy, after delivery, or during breastfeeding. Women lose some calcium from their bones during a normal, healthy pregnancy and breastfeeding. But in women with PAO, that calcium loss leads to significant bone fragility, particularly in the vertebrae. They can have spine or other fractures with little or no trauma. It is so rare that clinicians currently understand so little about PAO. Indeed, research on what could cause bone fractures during pregnancy is still very much in its infancy, with many cases going undiagnosed or prompting further investigation due to the condition’s rarity.

Clinicians do not know how many women have it and for many obstetricians they will never have encountered women with it, making for a challenging diagnostic pathway when a woman presents with PAO.

In the most common scenario, PAO is discovered after a pregnant or breastfeeding woman complains of severe back pain, and imaging reveals multiple vertebral fractures. Most of these women would not have had a bone assessment before this happens, and there is often a considerable delay between the onset of symptoms and diagnosis.

Karen is one of these women who aged 28 had a spinal collapse whilst in labour. She found herself in a situation where not only could she not look after her baby but struggled to be believed and like others with this condition Karen explains her frustrations.

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“A terrible diagnostic odyssey, with hospital staff, midwives, health visitors and my GP refusing to believe my husband and myself that anything was wrong. My husband insisted we had to change GP and thankfully our new GP listened, believed us and started testing. But they had never heard of Pregnancy Associated Osteoporosis (PAO) and so were not testing or looking for it. Eventually, though an x-ray revealed spinal fractures, my back broken in different places, from labour and trying to lift my baby. Even seeing the x-ray, my GP queried had I ever been in a car crash or had any back injury previously.”

Women with PAO and vertebral fractures may have excruciating back pain, which can make it difficult to function and even more difficult to care for a baby. Women may also have other types of fractures that require urgent care. Aged 28, Karen was told that she had the bones of a 99-year-old woman and she was not allowed to hold, lift or carry her baby, for medical fear of new fractures.

 “‘Parenting with a new, disabling, painful, rare condition was incredibly difficult over the years. This particular bone disease has a huge mental health impact, from birth trauma to the feeling of failure as a mother, the impact on career, finances, and relationships, the horrific change in body shape arising from vertebral fractures and the ongoing fear of fracturing and living with huge amounts of pain’

Karen Whitehead

Rare disease patient

Karen found herself living a restricted life and had a long period as a wheelchair user, her family living constantly in the shadow of this frightening and debilitating disease. There is no mutually agreed opinion or guideline in the treatment of this condition and Karen found herself moving around hospitals and specialists, still without a treatment plan that would work for her. At the age of 50 she was still struggling physically and mentally.

“After 20 long years of this, I was approaching 50 and the menopause – the age when women usually get osteoporosis and break bones. In that immediate post-menopause period, women can lose up to 20% of bone and one in two women aged over 50 have osteoporosis and fracture. I’d already lived with severe pregnancy-associated osteoporosis for twenty years. I was already having ongoing easy fragility fractures. I was terrified of the future and the menopause”.

Luckily for Karen help was at hand, in the shape of Dr Ken Poole. Dr Ken Poole is a University Lecturer and honorary consultant rheumatologist at the University of Cambridge, who applies novel imaging techniques to investigate human bone diseases. Research in his bone group focuses on osteoporotic fragility fractures and osteoarthritis by examining the bone structure and shape in health and disease. Karen became and continues to be a patient at Addenbrooke’s Hospital under the Metabolic Bone Disease Unit, Dr Poole was able to direct Karen towards a new bone treatment and for the last ten years, this team has supported Karen through the menopause and beyond. Prescribing and advising on various ongoing bone treatments, some of which they have been instrumental in developing. Karen is delighted to be in a much better position and is excited that,

“From having the bones of a 99-year-old age 28, I am now 60 and my bones are now those of a 60-year-old. I have not had a single fracture, since being taken on by Addenbrooke’s amazing Hospital as a long distant patient”

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