An extremely rare disease
Wolcott-Rallison Syndrome (WRS) is an extremely rare genetic disease with onset at neonate to infancy causing permanent insulin-dependent diabetes, skeletal dysplasia and life-threatening complications typically due to liver dysfunction.
Beyond these three main symptoms, clinical signs and conditions vary significantly among patients, making each case individual. Alone, the nature of the mutation thought to be responsible for the condition, is not enough to explain the clinical variability between patients.
The genetic mutation relates to the EIF2AK3 gene which encodes PERK, one of the enzymes active in the protein translation control mechanism of the endoplasmic reticulum (ER) named Unfolded Protein Response (UPR).
Very few cases of Wolcott-Rallison Syndrome have been reported so far, most likely less than a hundred worldwide and currently there is no dedicated association or support organization.
Credits : Radiography of a WRS child presenting skeletal dysplasia Wolcott-Rallison Syndrome, C.Julier, M.Nicolino, november 2010.
A year ago, Nathalie the mother of Ugolin, now five years old and diagnosed with WRS at the age of two, came to us in an attempt to break isolation and connect with others affected by the Wolcott-Rallison Syndrome.
She was also looking to understand how to better navigate the Healthcare arena.
Nathalie is looking for others with experience of WRS; parents & relatives, care givers, medical practitioners, teachers...to share and bring together experiences, ideas and best practices from medical care to education and day-to-day living, for example:
Next steps following diagnosis
How to build a support and medical team around the child
Child development, recreation and education
When complication start...
Surgical practices (e.g. transplant)
What is in the drug development pipeline?
How can we help scientists and clinicians?
Parenthood and family life
Being extremely rare, breaking the isolation of WRS requires crossing countries and language barries to reach other patients' relatives.
By joining forces and sharing experience, there is hope for newly diagnosed children and their families to benefit from improved support when coping with the Wolcott-Rallison Syndrome.
Nathalie is fueled by the love and courage of a mother to achieve this.
Building a supportive community for a better future
If you wish to connect with Nathalie, to share experiences, ideas, best practices, to update and be updated about progress in the field of WRS, please send us an email at firstname.lastname@example.org.
Connections have already been established between a few families in Europe and in the US.
We speak English, French, German and Italian and will do everything we can to help connect WRS families together and build a supportive community.
This is an attempt to create a better future for those, like Ugolin, suffering rom Wolcott Rallison Syndrome and to support those who love and care for them. Let's hope this can be the start of a larger initiative.
Wolcott-Rallison Syndrome, C.Julier and M. Nicolino, 2010
Os odontoideum in wolcott-rallison syndrome: a case series of 4 patients, Dias et al., 2016