Parents write moving tributes to their inspirational daughters living with rare diseases

Feb 28, 2015

Rare Disease Day: raising awareness with testimonies from carers and patients

Two parents have spoken movingly about how being diagnosed with rare diseases changed their young daughters' lives.

Mum Michaela, from Czech Republic, talked about how her two-year-old daughter, Tereza, was only the nineteenth child in the country to be diagnosed with CDG type 1A.

The condition affects her growth and development causing problems with bones and muscles.

Michaela, and other parents, talked about their children's diseases as part of Rare Disease Day, which takes place on Saturday, February 28.

As part of the campaign to raise awareness about people living with such diseases, charity EURORDIS released the video above.

Michaela, mother of Tereza, who has CDG 1A

CDG type 1A (congenital disorder of glycosylation) is an inherited condition which affects growth and development and causes problems with bones and muscles.

Tereza, who suffers from a condition which causes problems with her bones

"Since the diagnosis, we have learned more about the disease, and how to help our little princess in her development.

"We do what we can as parents as best we can. Tereza doesn't walk yet but she makes progress every day. She is a very happy girl who understands everything that we tell her. She can't speak much yet, so sometimes she gets very angry when we don't understand her.

"We know she would like to walk and that also makes her unhappy sometimes: she can't get to where she wants to go. Even at two years old, she has a strong will and she tries to cope with everything.

"She is an incredibly friendly and empathetic little person. She loves people and is extremely curious. She is interested in everything and she likes to try new things whenever she can.

"There isn't much information in the Czech Republic on my daughter's disease. We are a bit lost and don't know what will happen or what we can expect."

Learn more about CDG and meet other people living with it here .

Parents of Raya, a toddler who suffers from Lipoprotien Lipase Deficiency

Lipoprotein Lipase Deficiency affects 1 in 1,000,000 people causing high fat levels in the blood.

As Raya gets older she could put on 20g of fat per day

"We are the parents of two children. At two months Raya got really sick. She had a high fever which would not break, was vomiting a lot and she was grunting with every breath she took.

"We took Raya to accident and emergency where the doctors examined her. When a blood test was carried out, the doctors were shocked to see that her blood was not red like normal, but appeared to be a strawberry milkshake pink in colour.

"Doctors say that as Raya gets older and gains more weight she will put on 20g of fat per day.

"All in all, Raya is a very happy child with such a kind heart and a big smile. We would change that for the world! And as she grows, we will always remind her of just how special and amazing she is. And that, no matter what, she is just as important and loved as anyone else."

Learn more about Lipoprotein Lipase Deficiency and meet other people living with it here .

As well as parents writing about their children's experiences, other adults shared what they suffer living with a rare disease.

Timo, a CEO, suddenly diagnosed with Aortic Dissection Type A

Aortic Dissection Type A is a rare and painful heart condition where there is a tear in the wall of the artery responsible for carrying blood out of the heart.

Timo had to have part of his aorta replaces

"Two years ago I got ill with Aortic Dissection Type A. My whole world changed that day. After open heart surgery and the replacement of part of my aorta, I gradually returned to life.

"I do not work any more. I spend my time partly in hospital on rehab training and follow-ups, and partly by trying to build a non-profit public patient association with other AD friends for people living with Aortic Dissection

"Having worked as a CEO in companies in need of a financial turnaround and as a manager in projects concerning change management, my life has included a high level of blood pressure.

"Now I can only regret that I did not visit the doctor sooner, and that I did not prioritise my health until I got ill."

Learn more about Aortic Dissection and meet other people living with it here

post from sitemap
Copyright © -2012 Modern Life All Rights Reserved | Template Design by Favorite Blogger Templates | Blogger Tips and Tricks