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Two-year-old sister of little Adeline Davidson diagnosed with rare genetic condition, mum reveals

Adeline Davidson (left) and two-year-old sister Josie.
Adeline Davidson (left) and two-year-old sister Josie.

The mother of Alness youngster Adeline Davidson is urging fellow parents to embrace their “mother’s instinct” after discovering a rare gene in her family.

Little Adeline is currently recovering in Glasgow after receiving a long-awaited bone marrow transplant in April.

The four-year-old endured two-years of complications in finding a suitable donor to treat what doctors believed at the time was Myelodysplastic syndromes (MDS), a rare form of blood cancer.

Her parents Steph, 27, and Jordan, 29, were hopeful her recovery marked an end to their never ending rollercoaster journey.

However, doctors dealt them a devastating blow, revealing both Adeline and two-year-old sibling Josie are suffering with Swachman Diamond Syndrome and carry the rare genetic mutation dnajc21.

Adeline Davidson and her two-year-old sibling Josie have both been diagnosed with the same rare genetic gene – swachman diamond syndrome and the mutation dnajc21.

The mother-of-three says discovering the news about Josie didn’t come as a shock but has been “a hard pill to swallow.”

“It wasn’t really a shock for me to be honest,” Steph said.

“I had kind of put little things together in my head for quite some time about Josie. I think everybody thought I was a bit crazy but I just kind of knew.

“Both of those mutations lead to a bone marrow failure and a mountain of other conditions which is a bit scary. It doesn’t mean they are going to get all this mountain of symptoms but it means there is potential that they could have these things.”

She added: “Genetic conditions are just absolutely insane. The chances of me meeting Jordan, marrying him and having kids and us both carrying the recessive mutated gene, it’s honestly like one in a billion.

“We have said all along, this has been such a long journey. I said to Jordan it’s not even a long road anymore. It’s a roundabout with no exit. I can’t see anything for the next few years now.”

Never ending roundabout

Specialists are now carrying out a barrage of tests on the two-year-old tot to establish the state of her physical condition.

The toddler, who is a twin to two-year-old Jude, is presenting signs of development delay and low growth hormones as well as bone abnormalities.

Josie is currently undergoing tests to establish the state of her condition.

The 27-year-old mother says it’s not known at this time whether Josie will follow in her big sister Adeline’s footsteps, requiring a bone marrow transplant, but admits it’s a distinct possibility.

Mrs Davidson said: “At the moment, Josie’s bloods are somewhere for tissue typing, which is where they find the donor matches. We will wait for that to come back and then in the meantime they will be doing more tests on Josie’s physical symptoms.

“It’s not 100% that Josie will need a transplant, it’s just more likely. There is no plan set in place for Josie yet but because we know she has it there is a lot more to be done.”

Adeline’s bone marrow failure

Adeline is now on the road to recovery after receiving a bone transplant from a donor overseas.

The marrow was administered in April through transfusion, with the whole procedure taking just over 20 minutes to complete.

It brought an end to an agonising two-year wait for the four-year-old youngster and her family to undergo the life-changing procedure.

crowdfunding appeal was also launched in March to support the family’s journey.

Following the transplant, she remains resilient, despite losing her hair, seeing a drop in oxygen levels and battling mucositis – a painful inflammation of the digestive tract.

After more than 70 days of isolation with her mother at Queen Elizabeth University Hospital in Glasgow, the pair were reunited with her dad Jordan and twin siblings.

Mrs Davidson said three months on, Adeline is “doing really well.”

She said: “Due to SDS, you can have dysplastic cells which is why they said Adeline had MDS to start with. MDS is a rare blood cancer and it was through that they found the genetic condition.

“It means she is in straight bone marrow failure with dysplastic tendencies.”

Adeline received her long awaited bone marrow transplant in April, ending a two-year search for a viable donor.

She added: “It’s been slow and steady but she has really managed to avoid the bad stuff. Even though what they are saying is her body doesn’t have a lot of engraftment yet, which means she is not at normal level yet, she is holding her own.

“She’s not had a transfusion in over five weeks so that’s unheard of obviously for us.

“She’s doing really well and her own new immune system has managed to fight off a couple of viruses that she’s had.

“It really is working as far as we are concerned and it’s doing what it has to do, it’s just a bit slow.”

Embracing mother’s instinct

The mother-of-three is now appealing to fellow parents to not ignore the signs as she continues to appeal to the public to sign up and give blood.

She said: “A mum’s instinct is so powerful and strong so if there is a mum out there thinking that there is a problem with their kids, don’t back down.

“I had that feeling something wasn’t right with Adeline and Josie and I was right. I would say to people, not to believe your kid has a genetic condition but just any problem, go and get it checked.

“If you have that gut feeling then go with it. You get a lot of stick sometimes from the doctors and people not listening because you are paranoid, overthinking or you’re a first time mum. I got that all the time with Adeline.”

You can follow their journey on their Instagram page.

Adeline Davidson with her two-year-old siblings Josie and Jude following her transplant.