Understanding Trisomy 13 and Diagnosis
Trisomy 13, also known as Patau's syndrome, is a serious and rare genetic disorder. It arises from the presence of an extra copy of chromosome 13 in some or all of a person's cells. This additional genetic material disrupts normal development, often leading to miscarriage, stillbirth, or the baby passing away shortly after birth.
Babies with Trisomy 13 typically grow slowly in the womb and can be born with low birth weight and a host of severe medical issues, including heart defects and brain malformations. The NHS notes that Patau's syndrome affects about 1 in every 4,000 births, with the risk increasing with the mother's age. Sadly, more than 90% of children born with Trisomy 13 die within their first year.
The cause of Trisomy 13 is usually not inherited but occurs randomly during conception. Most cases do not run in families. Instead, an error occurs when cells divide, leading to the extra chromosome. Sometimes, however, Trisomy 13 can result from a rearrangement of genetic material, known as a chromosomal translocation, which can be inherited.
The NHS in the UK offers screening for Trisomy 13 among other syndromes from 10 to 14 weeks of pregnancy. The screening can include a blood test and an ultrasound scan. If there's a higher chance of the baby having the syndrome, further non-invasive tests are available, and in some cases, invasive tests like amniocentesis or chorionic villus sampling (CVS) may be used to confirm the diagnosis.
It should be noted however, that these tests are not always accurate and approximately 1 in 10,000 cases will stay undiagnosed until a baby is born or is sadly lost.
SOFT UK: A Charity Supporting Families
For families dealing with Trisomy 13, the emotional and practical challenges can be overwhelming. This is where charities like SOFT UK play a vital role. SOFT UK provides invaluable support to families affected by Trisomy 13 and Trisomy 18.
They offer a support line that serves as a confidential space for anyone whose pregnancy or child is affected by these conditions. SOFT UK's mission ensures that families can access support whenever they need it, whether their experience is recent or occurred long ago.
Moreover, SOFT UK recognises the significance of remembrance for families who have lost a child. They host a wall of stars and a monthly remembrance video to honour the memories of those who are no longer with us, helping families in their grieving process and ensuring that the lives of their children are remembered and celebrated.
How Can You Support SOFT UK?
As a UK charity, it has never been more important to see if you can support SOFT UK. Whether that’s through fundraising, donating or volunteering some of your time, have a look at the below to see how you could help support this incredible charity.
Fundraise
SOFT UK relies on the support of others to continue their incredible work. As stated on their website, there are a variety of ways you can help them:
- Help to fund their helpline for families
- Help to cover the cost of support group meetings and family days
- Help fund printed materials to raise awareness
- Support in keeping the website running
- Support their podcast series
If you think you may be able to support with one of the above, or you have another way you can fundraise to support the charity, get in touch with their team today.
Donate
Many of the people donating to SOFT UK are those who have been directly affected by the devastation Trisomy 13 can bring on families. The easiest way to donate to SOFT UK is to visit their JustGiving page. Here, you can also set up a monthly direct debit to support the charity on an ongoing basis.
Volunteer
SOFT UK is run by volunteers, whether that’s working directly with family, supporting the administration team or sending out fundraising packs. They offer a flexible volunteer programme designed to fit around your existing lifestyle so it has never been easier to offer any time you can spare.
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Get In Touch with SOFT UK If You Need Support
In summary, Trisomy 13 is a genetic disorder with a profound impact on families. In the UK, the NHS provides screening and support for those affected. However, the emotional and practical support offered by charities like SOFT UK is essential. Their work includes providing a confidential support line, remembrance services, and ongoing support, making a significant difference in the lives of affected families. This dedication to helping families through some of their most challenging times is what makes the work of SOFT UK truly amazing.
If you need the support of a charity like SOFT UK, whether you have lost a baby to Trisomy 13 or Trisomy 18, get in touch with SOFT UK and benefit from the wonderful team that volunteers to keep this charity going.