Tag: Prader-Willi Syndrome

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Fundraising for Lenè Grobler – Prader-Willi Syndrome, ADHD, Intellectual Developmental Delays

Lenè Grobler

Lenè`s story:

“Lenè was born a bit early at 36.5 weeks but she was a normal healthy baby as far as the eye could see. When she turned 1 years old I started to worry because she was far behind her cousin who was 2 months older than her. We stayed in a small town with no therapists and doctors, and my father said we must be patient with her as she might just be a bit slow.

When she turned 19 months old she started to lift herself and at 21 months she was walking, but not that well. We moved back to Klerksdorp when she was about 2.5 years old. I was still worried at this stage as she was still on nappies and did not talk. We took her to the Potch University – Care2Kids program to get her assessed and see if there is maybe something wrong. After this I finally got a school that had the time to care for her as the special needs school had her for 1 week and asked us to rather take her out as there is something seriously wrong with her.

In February 2022 she was assessed by Dr J.C.K Strauss who found her to have an intellectual disability as well as a serious communication delay. We started looking around for a Paediatric Neurologist to assess Lenè as we need assistance with treatment and advise on the way forward. In May 2022 she went to see Dr C Erasmus in Pretoria who diagnosed her with Prader Willi Syndrome and ADHD among a list of things. She has a wide range of symptoms and we are eager to find answers so that we can help her have a better quality life.

Lenè turns 5 years old in February 2023. She is currently on 2ml Risperdal a day. This alone is R1900.00 a month. The day to day from our medical covers it but this will soon be depleted. Thereafter, all medicine must be paid in cash. School costs R1850.00 a month and then nappies work out to R165.00 a week. I cannot look for better employment as I need to take off a lot, when she gets sick or is too difficult, so I only get commission on cases completed… no work, no pay.”

Please open your heart to Lenè and support our fundraiser for this family in need – all proceeds from the “Uplifted in Faith” bracelets are donated towards her ongoing medical care and expenses. Together we CAN make a difference!

Alternatively, please consider making a donation. Any and all donations welcome. REF: Lenè Grobler.

Fundraising for Lenè Grobler

Uplifted in Faith Bracelets

The “Uplifted in Faith Bracelets” consist of grey and white wooden beads with crystal, silver and diamante fillers.

Charm options:
Heart / Faith / Butterfly.

To place an order, contact the agent in your area or shop online.

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May is Prader-Willi Syndrome Awareness Month

May is Prader-Willi Syndrome Awareness Month

Prader-Willi Syndrome (PWS) is a rare genetic multisystem neurodevelopmental disorder that affects a part of the brain called the hypothalamus. The hypothalamus is a gland in your brain which is responsible for regulation of all the systems in the body and control of hunger and thirst, temperature regulation, pain and stimulation hormone production amongst others. The disorder results in a number of physical, mental and behavioral problems.

PWS is caused by a lack of active genetic material in a specific region of chromosome 15 (15q11-q13). Individuals normally inherit one copy of chromosome 15 from their mother and another one from their father. The genes in the PWS region are normally only active on the chromosome that came from the father. There are 3 main molecular mechanisms that result in PWS: paternal deletion, maternal UPD 15, and imprinting defects.

A clear explanation of PWS symptoms, causes, diagnosis, genetics, treatments & research can be found on the Foundation for Prader-Willi Syndrome Research website. Watch the video below for a brief overview.

PWS was first described by Swiss doctors Andrea Prader, Alexis Labhart, and Heinrich Willi in 1956, based on the clinical characteristics of 9 children they examined. The common characteristics defined in the initial report included small hands and feet, small stature, very low lean body mass, early-onset childhood obesity, weak muscles at birth, insatiable hunger, extreme obesity, and intellectual disability.

PWS occurs in approximately 1 in 15,000 births. It affects both females and males of all races and ethnicities with equal frequency. Symptoms and severity may vary from one person to another. The symptoms also change over time in individuals with PWS, and a detailed understanding of the nutritional stages of PWS has been published. 

PWS is recognized as the most common genetic cause of life-threatening childhood obesity. There is no cure for Prader-Willi syndrome but many patients will benefit from a supervised diet, and some symptoms can be treated with hormone therapy. Other treatments include feeding therapy, physical therapy, occupational therapy, strict food supervision, exercise program, and counseling. Scientists are actively studying the normal role of the genetic sequences in the PWS region and how their loss affects the hypothalamus and other systems in the body.

Milan Dale

May is Prader-Willi Syndrome Awareness Month

Individuals, families, communities, schools and workplaces, various organisations, Associations and Foundations around the globe come together in May to raise awareness of Prader-Willi Syndrome, and also to raise funds to provide support and fund important research into this complex and life-threatening condition. The official awareness colour for Prader-Willi Syndrome is ORANGE as it had been previously used as the awareness colour for hunger.

Display your support by wearing orange in May and help raise awareness for PWS!

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Sources: rarediseases.org, fpwr.org, pwsavic.org.au, webmd.com, wikipedia.org.

*All information in this post is published for general information and educational purposes only. Arms of Mercy NPC and the armsofmercy.org.za website do not offer any diagnosis or treatment, and will not be held liable for any adverse health effects, losses and/or damages whatsoever. Any action you take as a result of the information is at your own risk, and does not replace the advice of a qualified medical practitioner. Always consult with your medical healthcare practitioner.

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Fundraising for Milan Dale – Prader-Willi Syndrome, Scoliosis

Milan Dale

Milan`s story:

Michelle Le Roux is a single mommy of Milan Dale (2 yr. and 9 months), who was diagnosed with a rare genetic condition called Prader-Willi Syndrome (PWS) as well as Scoliosis. Scoliosis is commonly found in people with PWS.

One of the effects of PWS is low or extremely low muscle tone. Usually, kids will be started on Growth Hormone Treatment from a very young age. Milan had to visit the sleep lab for a very thorough sleep study and the doctors decided that his tonsils and adenoids had to be removed. A while after the surgery, he went for another sleep study and the results came out a few weeks ago – at last he is ready to start Growth Hormone Treatment! GHT is not covered under medical aid and is ridiculously expensive.

Neuromuscular Scoliosis with a 53 degree C-curve was diagnosed at 16 months. This is again caused by the low muscle tone.

While waiting for the decision of GHT, Michelle tried everything in her power to keep Milan’s curve from progressing.

With the first round of Mehta casting, Milan was 20 months old. The cast was removed early due to medical reasons. The second round of Mehta casting was applied at 21 months old. The full 8-week course was completed with no improvement at all.

Michelle started looking for other treatment options to reduce the curve of his spine. Milan started with physiotherapy, Schroth therapy, swimming therapy and chiropractic sessions. Even with all the extra exercise to strengthen his core,the scoliosis progressed.

She promised herself to never stop looking for a solution for her little scoliosis warrior. She contacted various institutions outside South Africa for possible non-invasive treatment options:

Prof. Ahmet Alanay at Comprehensive Spine Center in Istanbul recommended casting to halt the progression until he is at a suitable age for spinal fusion surgery to straighten his spine.

National Scoliosis Center in Virginia, USA recommended Dr Malcolm Freedman in Cape Town for an RSC Brace. Michelle and Milan had a very positive consultation with Dr Freedman where he explained that Milan is the perfect candidate for the RSC brace, and was very excited to be a part of Milan’s bright future. Dr Freedman also explained that the cost of the brace was R50 000! The worst of all is that Milan will need a new brace every time he grows about 10cm.

A crowdfunding campaign was started and by grace alone, they have reached the R50 000 target and Milan’s brace was ordered. He is doing great in the brace and they are eagerly awaiting the next appointment with Dr Freedman to see what progress he has made.

Dr Freedman was very happy to hear that Milan was awaiting the results to start Growth Hormone Treatment. He stated that the Growth Hormone will help strengthen the muscles around his spine, while also helping the spine, and his whole body, grow.

Milan has recently started with his Growth Hormone Treatment GHT – starting with a low dose and increasing as per his endocrinologist. The cost of GHT pens are quite extreme and treatment for a month will start from about R3000. As Milan’s dose gets increased, the cost will increase to about R6000 a month.

Together with your help we can make a significant difference in Milan`s life. Together we can change his world, one bracelet at a time!

Any and all donations welcome. REF: Milan Dale.

Fundraising for Milan Dale

Mighty Angel Bracelets © Arms of Mercy NPC

Mighty Angel Bracelets for Milan; consisting of coral wooden beads with crystals – and a Hope awareness ribbon, a cross & sword, and a letter “M” charm. The Men`s bracelet consist of coral wooden beads and a Hope charm. To place an order, contact the agent in your area or shop online.

Mighty Angel Bracelets for Men © Arms of Mercy NPC
Mighty Angel Bracelets for Men

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Mighty Angel Bracelets © Arms of Mercy NPC
Mighty Angel Bracelets – Ladies

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The Prader-Willi Syndrome Awareness Bracelet is a wired bracelet with orange wooden, crystal and precious stone beads, silver and diamante fillers, and 3 Hope-Awareness Ribbon charms. *Limited edition*.

To place an order, contact the agent in your area or shop online.

Prader-Willi Syndrome Awareness Bracelet
Prader-Willi Syndrome Awareness Bracelet

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