Fundraising For Loved Ones With Rare Diseases such as Kabuki Syndrome

Fundraising For Loved Ones With Rare Diseases such as Kabuki Syndrome


What Is Kabuki Syndrome?

Kabuki syndrome is a rare genetic disorder. There is very little known about the disorder worldwide. At the moment, there is no concrete evidence of the cause of kabuki syndrome. Although kabuki syndrome is a genetic disorder, in most cases there has not been a history of the syndrome, therefore making it hard to pin point the direct cause of the syndrome.

There are many features which can occur in children with Kabuki syndrome. It is important to note that not all these features are seen in every child. Therefore a combination of these features may be evident. These include:

– Arched, interrupted eyebrows

– Long palpebral fissures (the distance from the inner to outer corners of the eyes)

– Large and low-set ears

– Intellectual disability

– Cleft lip and palate

– Cardiac abnormalities

– Urogenital and kidney problems

– Immune abnormalities

– Ear infections and hearing loss

Kabuki syndrome currently has no cure. However there are a number of health professionals such as paediatricians, speech therapists, geneticist and other specialists that can help provide treatment and programs to help with ongoing problems that children with Kabuki syndrome experience.

How To Fundraise For Children With Kabuki Syndrome

Fundraising for children with kabuki syndrome can assist your family with urgent and/or expensive medical costs that can incur over a short period of time. When a child is diagnosed with kabuki syndrome, it can be very difficult for the family financially, particularly if you have other children to look after.

Fundraising is a great idea to help families cover medical bills such as ongoing therapy costs, programs and special schooling to help your child develop and grow.

Example Of Fundraising For Kabuki Syndrome: Josie’s Story

Josie reaches her goal

Based in Tasmania, Josie was diagnosed in the early stages of life with kabuki syndrome. To date, she has had over 22 surgeries due to having kabuki syndrome. These surgeries were completed in Melbourne, which adds financial strain to the family as they require to fly to Melbourne of a regular basis every year.

Her family, have been supportive and strong through the years and have always wanted the best for her. Josie’s mother, Jen decided to create an online fundraising page with PeoplePledge to help cover the cost of a much needed wheel chair. The family reached out to friends, family and other networks and managed to raise $5000 in just 6 days. Since then, the family have already ordered the new wheelchair and all over funds raised are going towards modification of the family vehicle.

If you would like to find out more about Josie and her Pledge Page, you can go to her Pledge Page here:

photo by: M Glasgow