A purple spotty rash when Grayson was just eight months old was the first warning signs of his life-threatening genetic illness, which currently has no cure.

In December 2017, Rachel and Leighton noticed the rash on their baby’s body, and took him immediately for tests.

“Blood tests determined his platelet levels were nearly 0 and he was rushed into hospital,” Rachel recalled.

Following numerous tests failing to identify a cause, Grayson was flown from Mackay Base Hospital to the Queensland Children’s Hospital in Brisbane, where doctors took a sample from Grayson’s bone marrow and discovered he was experiencing bone marrow failure.

“Further genetic testing, identified that he has TERT gene mutations and short telomeres, finally resulting in a diagnosis, of Dyskeratosis congenita and unfortunately the more severe variant, Hoyeraal-Hreidarsson syndrome.

These conditions mean for the rest of Grayson’s life, there are high chances he may experience liver, lung or other organ failures, as well as a high risk of cancer.

“Over the past six months we have had nearly a dozen hospital stays in Queensland Children’s Hospital and Mackay Base Hospital, treating low blood levels, receiving blood transfusions, reoccurring bleeding issues, tests and procedures to identify the extent of Grayson’s medical issues and tissue typing to find a match for a bone marrow transplant,” Rachel explained.

Grayson has also been the recipient of two bone marrow transplants, while doctors monitor a range of other issues as a result of his condition, including serious concerns for his eye sight if not treated as soon as possible.

“The Bone marrow transplant is extremely risky to his life, however, we feel it is the best option for the longevity of his life,” Rachel explained.

“Grayson also has a small cerebellum (back of the brain) which has caused him to have significant developmental delays.  He has extensive physiotherapy, speech therapy and occupational therapy to help him gain motor skills and language development.”

“The bone marrow transplant will help to solve his blood and bone marrow issues, however there is no cure for his overall diagnosis and there is so much uncertainty for his future.”

“Grayson’s diagnosis was a long process, needing the genetic research to be done in order to completely understand what was causing his bone marrow failure and any implications for his future. It was devastating to find out he has a life-threatening illness that has been passed down genetically and may affect Grayson and any future children for our family.

“Grayson is at such a young age, so he is oblivious to the impacts this disorder is having on his life and causing his delays. He is still a happy, charming, TINY, one-year-old who brings joy to all those around him.”

Ask us today, about becoming a blood donor and joining the Australian Bone Marrow Registry.

Did you know:

  • Coming into Easter, the Red Cross Blood Service traditionally sees a drop in people donating over the Easter break. While many of us take a break over Easter, the need for blood, as seen with Grayson, doesn’t take a break. Blood donor centres are open on Easter Saturday and Easter Monday.
  • One in three people will need blood in our lifetime, but only one in 30 currently gives blood.
  • For more information or to make an appointment, call 13 14 95 or visit donateblood.com.au
  • Signing up to the Australian Bone Marrow Donor Registry is simple – just make an appointment to donate blood and sign up in the donor centre.
  • To join the bone marrow registry in Australia you need to be:

– Aged between 18-45

– In good health

– Willing to donate for anyone in the world.

 For more information about joining the bone marrow registry, please visit www.abmdr.org.au or call 13 14 95 to make an appointment to donate blood and join the registry.