MARI
“Mari is a loving, caring and affectionate child who charms everyone she meets”.
“She is really in tune with people’s feelings and can sense straight away if someone is upset or angry and her response straight away is to kiss, hug and ask them if they are ok”.
Mari has Wagr syndrome which is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and possible learning delays.
“ We are so proud of her and she constantly amazes us with her capabilities despite her difficulties.”
From the very beginning, life has been difficult for Mari. At 12 days old she was operated on for bowel malrotation. When she was 1 she was diagnosed with Wilms tumour which meant she had a year of chemotherapy and surgery to remove 7 tumours. When Mari was 2 she had cataract surgery on both eyes and further surgery to remove scar tissue. She is registered blind but she can see fairly well close up, though not in any great detail. She also has no depth perception.
Despite Mari’s vision problems she is very determined and doesn't give up easily. She is very much like any other child who enjoys painting, crafts, music and singing. In her short life she has been through so much but she is tough and doesn't complain about anything.
“It is very rewarding having such a lovely little girl who has overcome so many hurdles and is coming on in leaps and bounds. We are so proud of her and she constantly amazes us with her capabilities despite her difficulties.”
“We feel very blessed to have Mari and wouldn’t change her for the world, her condition has made her who she is.””
“We do have constant worry about her and the possibilities of the tumours returning, the long term effects of chemo, deteriorating vision and her coping with her limited vision and being able to do what other children do. It is very much an emotional rollercoaster having a child with such a rare condition. We have had to learn as we've gone on and to research as much as possible in order to help Mari and get the assistance she needs. Knowledge is power and we've pretty much become experts on the condition and advising the consultants on what they should be aware of and checking on! It's a constant battle ensuring that she gets all the support she needs. We feel very blessed to have Mari and wouldn't change her for the world, her condition has made her who she is.”
FIND OUT MORE
WAGR SYNDROME
WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and a range of developmental delays. The term “WAGR” stands for the first letters of the physical and mental problems associated with the condition:
(W)ilms’ Tumor, the most common form of kidney cancer in children.
(A)niridia, some or complete absence of the colored part of the eye, called the iris (singular), or irises/irides (plural).
(G)enitourinary problems, such as testicles that are not descended or hypospadias (abnormal location of the opening for urination) in boys, or genital or urinary problems inside the body in girls.
(R)ange of developmental delays.
Most people who have WAGR syndrome have two or more of these conditions. Also, people can have WAGR syndrome, but not have all of the above conditions.
To find out more about Wagr Syndrome, please click here.
To learn more about Aniridia, please click here.
INTERNATIONAL WAGR SYNDROME ASSOCIATION (IWSA)
IWSA’s mission, as found on their website:
“The mission of the International WAGR Syndrome Association is to promote international knowledge and awareness of WAGR syndrome and its complications and treatments, to stimulate research and to reach out to those affected by WAGR syndrome in an effort to improve their lives.”
The International WAGR Syndrome Association is a not-for-profit 501 (C)(3) charitable organisation comprised of a network of families, health care professionals, educators, and others who care for individuals with WAGR syndrome. Their members are located all over the world and membership is free. Funding for the organization comes from donations and grants, memorial donations, and fundraising activities led by member friends and families.
To find out more about IWSA and what they can do for you and your family, click here.
Source: https://wagr.org/3510-2/
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