Listen to other families talk about their experiences of having a disabled child.
Proximal Focal Femoral Deficiency
This podcast is a mother’s experience of having a son with the condition.
Proximal Focal Femoral Deficiency is an uncommon condition which occurs before a baby is born. The condition affects the bones in the lower limbs including the hip, knee and thigh bones.
Pitt Hopkins syndrome - diagnosis
A mother and father discuss their experience of the process of diagnosis for their child with Pitt Hopkins syndrome.
Pitt Hopkins is a rare genetic condition characterised by severe learning disability, breathing abnormalities and characteristic facial features.
TAR syndrome
This podcast is a father’s experience of having a child with TAR Syndrome.
TAR syndrome (Thrombocytopenia and Absent Radius)
In Thrombocytopenia and Absent Radius there are low platelets and absence of the radius on both sides (bilaterally). The radius and the ulna are the two bones in the forearm. The radius is the bone that is on the side of the forearm where the thumb is. There may be other bones involved as well but the unique feature of Thrombocytopenia and Absent Radius is that although the radius is absent, the thumb is present.
Sturge-Weber syndrome
This podcast is a mother’s experience of having a child with Sturge-Weber Syndrome.
Sturge-Weber syndrome (SWS) is a congenital disorder involving the brain, skin and eyes.
There is a facial birth mark (port wine stain), a layer of blood vessels over the covering of the brain (venous angioma of the leptomeninges) and there may be an angioma (collections of abnormal blood vessels) involving the inner lining of the eye (choroidal angioma). The angioma usually involves one side of the brain and varies in extent. More rarely it may involve both sides of the brain.
Bladder Exstrophy
This podcast is a mother’s experience of having a child with Bladder Exstrophy and Epispadias.
The exstrophy epispadias complex is a spectrum of disorders ranging in severity from epispadias through bladder exstrophy to cloacal exstrophy. All three and their variants are rare congenital abnormalities, which affects boys more frequently than girls.
Autism
Interview with one mum, giving an honest account of having a son with autism, how she got the diagnosis and coped since. The podcast also highlights additional sources of support which are available to families with disabled children.
Coats Disease
Contact a Family has produced two new podcasts featuring an interview with a mum and dad whose son has Coats Disease.
A mum's story
The interview with the mum features her talking about her experience of having a young son with Coat’s disease. She discusses diagnosis, how she has coped and the effect on family life.
A dad's story
The interview with the dad features him talking about his experiences and he discusses diagnosis, his emotions and the effect on family life.
More podcasts
Contact a Family also produce other podcasts including on benefits and your rights and entitlements.
Take part in one of our podcasts
Contact a Family is looking for families to take part in our podcast series on what it is like for families affected by rare disorders.
We would like to interview families or affected adults about their experiences of a disorder or having a child/children with a rare disorder. We are interested in hearing about any rare condition, or from any family whose condition is in our Directory. A member of Contact a Family staff will come to visit the family in their home or a place that is convenient.
Families whose children have very rare disorders often don’t have a support group to turn to or access to other parents to share their experiences, so hearing the stories of other families can be a great source of support.
For more information contact Cheryl Lenny, Information Officer (Rare Disorders), Tel: 020 7608 8714, e-mail: cheryl.lenny@cafamily.org.uk
The views expressed in these podcasts are for information purposes only. The material is in no way intended to replace professional medical care or attention by a qualified practitioner. Condition symptoms may vary in type or severity amongst individuals. This podcast is to demonstrate the personal views and experience of this family only. For approved medical information about this condition see the Contact a family website or contact your doctor.
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