By Sybille Kraft Bellamy
Mother of Maxent, AS 14 years old.

Thirteen years ago in July 2003 Maxent was diagnosed with Angelman syndrome (AS), he was 18 months old.

Today he is a handsome teenager in excellent physical condition with no medical issues. Nevertheless, this was not always the case. From infancy to his toddler age he was chronically sick and he spent more time in the hospital than at home. Very quickly I had the certitude that diet should be the best accessible and fastest way to help him.

Following my own observation and encouraged by Max’s pediatrician (and later by our neurologist), I started paying attention to his diet and removed most of the simple carbohydrates and insisted on replacing them with all kinds of fats.
The change confirmed that my maternal instinct about Max’s incapacity to deal with blood sugar fluctuation was correct.

The low carbohydrate/high fat diet was and will always be his first line of treatment like many other patients with severe disorders.

My confidence and enthusiasm in nutritional therapy is being shared by many parents.
Unexpectedly, a couple of years ago when I was put in contact with Maria Picone (through Gary Taubes) I had an immediate connection. We felt that many of our everyday battles were very similar, and our energy and desire to share our success with the diet with our community was a necessity.

Maria’s daughter, Tea, has Prader-Willi syndrome (PWS). I had the pleasure to meet her in her school with her friends and teachers and I was truly impressed by her personality.
She is a beautiful, smart little girl full of energy and very talkative!

Angelman syndrome and Prader-Willi syndromes were the first imprinted genetic disorders to be described in humans. Both syndromes are associated with loss of the chromosomal region 15q11-13( band 11 of the long arm of the chromosome 15).
This region contains the paternally expressed genes SNRP and NDN and the maternally expressed gene UBE3A.

Paternally inheritance of a deletion of this region is associated with PWS characterized by hypotonia, obesity and hyperphagia. Maternally inheritance of the same deletion is associated with AS (characterized by epilepsy, tremors and sleeping disorders).

* https://en.wikipedia.org/wiki/Genomic_imprinting
* http://www.ncbi.nlm.nih.gov/pubmed/11180221

In fact, many children with AS present typical characteristics of PWS, like an insatiable appetite and hormonal disorders. Also, some children with PWS suffer from epilepsy, also very common in AS.
It is well-known that patients with AS greatly benefit with therapeutic diets but it appears that patients with PWS do as well.They have better appetite control and a better body muscle mass repartition.The diet is beneficial for both syndromes, on a physical and cognitive aspect.

Many studies around the world confirmed the positive result on the diet with a better control of the epilepsy, however the full extent of the diet with some syndromes is not well-known because of the lack of data.

Patients and their caretakers need a data bank where they can have access to information concerning specific medical protocols and observations from patients and professionals from the medical field.

TREND Community was created to give patients a place to share their stories and contribute real-world data that will inform other patients, clinician, scientists and researchers. It is turning anecdotes into evidence.
TREND Community Initiatives connect its patient communities with leading specialists to collectively evaluate the effectiveness of specific therapies, diet or other environmental interventions. The Angelman Syndrome Diet Initiative is the first initiative for the Angelman community.

The AS Diet Initiative will introduce a group of individuals with AS to a pre-ketogenic diet and track patient-reported outcome measures hunger, cognition, behavior, energy, body composition and quality of life. This specific investigation of AS ketogenic diets is a wonderful opportunity to bring new hope for many patients and their families.

The diet Initiative will be carried out under the guidance of Beth Zupec-Kania, RDN from the renowned Charlie Foundation.

I will have the pleasure to bring my expertise of Angelman syndrome and diets. I will share all the positives outcomes I obtained with LGIT/MCT but also provide caution and reminders that this is a medical diet and must be done under the supervision of your doctor.

The AS Diet Initiative is sponsored by Gary Taubes, co-Founder and Director of Nutrition Science Initiative (NuSi), and Robert Goldstein.
We are extremely thankful to Gary Taubes and his ongoing support to help us spread awareness of the wonderful effect of the diet on our children health.

If you would like to learn more about AS Diet Initiative or request an invitation to join send an email to interested@trend.community

https://trend.community/

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