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Michelle's Story

 

Oscar is the youngest of our four children, he was induced on his brothers 6th birthday, though decided to have his own special day and was born the following day.

 

When he was 12 hours old he started struggling to breath. The doctors were concerned, so he was flown to Adelaide from regional South Australia, which was a three-hour drive for my husband Grant in the middle of the night.

 

He was monitored for the next 24 hours, but doctors couldn't find anything wrong. About two weeks later Oscar started having breathing issues again, this time we went to a different hospital in Adelaide where Oscar was closely monitored for two weeks. Genetic testing was conducted, the results showed a deletion on the small arm of the 5th chromosome, the same area for the condition Cri Du Chat syndrome.  However, further testing on Grant and myself ruled that out. I was also found to have the deletion, as well as one copy of the TERT gene missing too. 

 

Waiting for genetic appointments took months, and eventually geneticists  suggested we do a Telomere test on Oscar. Telomeres are the protective caps on the end of chromosomes.  If they are very short it’s likely he would have the extremely rare Dyskeratosis Congenita, which effects 1 in 1 million people. Dyskeratosis Congenita (DC) is a characterized by a variety of symptoms including skin abnormalities, abnormal nail growth, lesions in the mucous membranes such a leukoplakia in the mouth: white patches of potentially precancerous tissue, and in approximately 90% of the cases, progressive bone marrow failure. A variety of other abnormalities can also occur. 

 

The blood for Telomere test was sent to Canada for analysis. Four weeks later a diagnosis came back, I completely forgot about test and did not expect DC, especially when being told it’s extremely unlikely, but needs to ruled out. Further tests on our three other children saw, Nathan (nine) and Heidi (four), also have DC. 

 

Our lives are very different these days; we now live in Victoria and travel to hospitals in Melbourne regularly to see nine different specialists. I too see my own specialists. We felt so isolated not knowing anything about DC, the only support group was in the U.S and most doctors have never heard of DC. Last year my two eldest boys and myself fundraised to get to the U.S.A for the bi-annual Dyskeratosis Congenita Family camp and conference. There I met other people with our condition and it was like meeting family, knowing exactly what we’re going through. 

 

I’m now part of a support education group in it’s early stages for the Australia / New Zealand region, called Dyskeratosis Congenita Outreach Pacific.