Prader Willi Syndrome is caused by a missing section of Chromosome 15 in the DNA. It affects the part of the Brain called the Hypothalamus which is responsible for hormones and regulates growth and appetite.

Prader-Willi syndrome – NHS (www.nhs.uk)

PWSA UK – The genetics of PWS – web ready text with hyperlinks.pdf (cdn-website.com)

The Prader-Willi Association has put together lots of PDF documents that explain PWS and various other things to help.

The main characteristics are:

• Hypertonia (weak muscle tone)
• Hypogonadism: ( Immature development of sexual organs)
• Endocrine and nervous system disfunction
• Hyperphagia (Excessive hunger)
• Another characteristic is Obesity, but I believe this can be managed with an active life style and very strict diet.
• Delayed Milestones
• Delayed development of the brain and potential Autism, ADHD & Psychosis

There are other characterises of PWS, such as a lower body temperature, Serenity gets hot so quickly and struggles to cool down. Another is delayed ‘sucking’ and struggle to swallow. This is why Serenity is still on her NG Tube. Poor respiratory health when they are young and potential sleep apnoea in later life.

PWSA UK – About PWS_AyqTtyS5TZqhIxNOlP5c.pdf (cdn-website.com)

The information the Prader-Willi Association have produced is extremely helpful, I had a look at the new diagnosis pack and it helped assist me in knowing about the condition and what consultants to expect. Pretty much all of Serenity’s Doctors and Consultants referred me to the PWSA.

New Diagnosis Pack merged.pdf (multiscreensite.com)

PWSA UK | Support for those living with Prader-Willi Syndrome

I was reluctant to reach out for a while, however I was struggling with the weaning side of PWS. I had a dietician, but Prader-Willi Syndrome was new to her too and I wanted to do this in the best way which meant she had better chances of a healthy childhood and adulthood. I reached out and the new diagnosis team helped me so much with recipes and what I should be doing. The lady I spoke to, Shelia, was fantastic and she is a PWS mom too! She also put me in touch with another mom with a son, the same age as Serenity which was lovely. I would really recommend contacting them if you have any questions or you’re worried about your care. They advised they can contact the hospital and consultants too.

The below information is fantastic, you will end up knowing more about the condition than other doctors. This PDF is information for A&E and other hospital staff. An example is; Serenity had her temperature taken while seeing a GP which came back at around 37.5 degrees. This is seen as a ‘normal’ body temperature however Serenity’s temperature usually runs around 36 degrees, therefore this was a high temperature for her. I would recommend taking your child’s temperature every day, at different times for a while so you can see the average and advise your GP / Hospital staff in this situation.

Information for AE and other hospital staff.pdf (multiscreensite.com)

If required, they are also very good at advising what financial help you can get, but your Health Visitor and Community Nurses can also advise too.

admin@pwsa.co.uk or 01332 365676

At present, Serenity’s biggest challenges are her muscle tone and her size. She is 1 year old and still in 3-6 month clothes, she cannot sit up yet but her core strength is really improving. She is due to start Growth Hormone any time now which will improve her growth.

She is extremely sensitive to the heat, she spends most of her time just in vests and we have bought an Air Conditioning Unit to help keep her cool.

Serenity cannot have a full bottle of milk, she can manage around 30ml which takes about an hour. She is still NG Tube fed her milk but I am in the process of weaning her on to solids. She doesn’t have ‘solid’ food yet, I puree all of her food so its a consistency that she can handle to swallow – she cannot handle any ‘lumps’ just yet.

She was on oxygen for a while after neonatal but her breathing has improved. Prior to starting Growth Hormones the hospital conducted a sleep study which assesses her breathing, oxygen and C02 levels at night. This study came back fine therefore we have the go ahead to start Growth Hormone.

She has also begun teething the last few months, they say PWS have a very low pain threshold, but she sure can feel her teeth coming through!

Generally, she is doing really well, she has shown more bravery, courage and resilience than most adults I know! It’s important to remember that people in the medical profession are so negative and you should take what they say with some seriousness, but with a pinch of salt. I was told that whilst she was on Oxygen, a common cold could be fatal to her. It was the height of COVID so I didn’t leave the house for months because of this, eventually she had a cold and she came over it so well! She also had COVID a few months later while she wasn’t on oxygen and she fought it better than we did! Its important to be cautious, but the doctors always focus on the worst case scenario.