A Dublin mum is urging the public to donate blood after her young daughters received a life saving bone marrow transplant.
Sara Nolan, from Clontarf has come forward on Rare Diseases Day to speak about her two year old daughter, Aine who has osteopetrosis.
Osteopetrosis, or stone bone, is characterized by overly dense bones throughout the body.
Infantile osteopetrosis affects 1 in 250,000 people and the only treatment is a bone marrow transplant as long as it is caught in the early stages.
Aine, who is a twin, has stayed in the hospital several times with her longest stay lasting 108 days.
Aine's mum told Dublin Live: “Aine is such a happy little girl, she’s so playful and smiley.
“She had a lifesaving bone marrow transplant back in July 2021, she’s had two stays in ICU and she has had sepsis twice along with so many more transplant complications. She has hydrocephalus and visual impairment due to damage done by her thickened skull bones.
“None of that stops our Aine, she’s always smiling and laughing, she's so playful.
"With being a twin, we have direct comparison of what milestones she should be reaching, while she might not be doing exactly what her sister is doing.
"She is cruising around furniture, she’s crawling and she’s playing with all her age appropriate toys just like her sister. She’s not letting her condition stop her in any way.”
Sara and her husband Stephen struggled at the start of her journey as she was always in and out of A&E and the doctor’s office.
Sara continued: “We knew there was something up when she was in hospital at four weeks, we found out she had low phosphate and low calcium. She was always in and out as an outpatient for blood tests and physical tests by a doctor.
“She had fluid on the brain, she was diagnosed in December 2020 with hypophosphatemic rickets but in January, the x-ray found out that it was a misdiagnosis.
"We found out that she has osteopetrosis, things that can be affected include the hearing, eyesight, stunt growth and hydrocephalus.
“I Googled osteopetrosis and completely scared myself, the life expectancy for Aine would’ve been two years if she wasn’t eligible for a bone marrow transplant.
“Family members were tested to be a bone marrow transplant match but they weren’t so the Irish blood board had to go to the wider pool in Ireland but there were no matches, then had to go international, Aine's donor was from Germany.”
Sara and Stephen have four children together, aged four and nine with the twins being two years old. She had great praise for her friends and family for supporting them, especially her parents.
She said: “It was hard but thankfully my parents live next door, my mam is great with the babysitting and my dad turned into my personal chauffeur when it comes to dropping us to doctors appointments.
"Everyone has been so lovely with it, our friends, family, neighbours and strangers have been absolutely amazing.
“With the diagnosis, we were worried about telling people because I didn’t want my family to be looked at differently because we had a sick child but that’s not what happened at all, the support from everyone has been huge.
“Aine has an absolute army of people behind her which makes it so much easier, we feel really loved.”
The little girl hasn’t had it easy but she remains positive along with spreading her good energy to anyone having a bad day.
“Aine had a shunt fitted last April and went in for conditioning for her bone marrow transplant in June, there was eight days of 16 really intense chemotherapy to wipe her system completely.
"After her transplant, Aine had hemolytic anaemia, lung issues, excess fluid around her heart, her spleen grew three and a half centimetres, she had sepsis again and had to spend three days in ICU but none of that bothered her, she was so happy,” Sara continued.
“A lot of the staff said to me, if they were having a bad day at work they’d come into Aine for a cuddle and a kiss, their spirits would be lifted. She was making their day while they were making her better.”
Sara has been trying to raise awareness online to encourage people to donate blood and opt-in for the bone marrow system.
She said: “Aine also had 40-odd blood and platelet transfusions so it’s opened our eyes. Before we had her, I would’ve never considered donating bone marrow and now we’re really encouraging people who are eligible to donate to do it.
“The bone marrow system is opt-in within Ireland and that’s why it was difficult for us to find a donor here.
“For the girls' christening, a day after their birthday in May, we got t-shirts that spell out ‘please donate blood’ and we took pictures for Aine’s Instagram.
“We set it up to raise awareness for infantile osteopetrosis because it’s quite rare in this country. I think only five or six people in Ireland have been diagnosed with any type of osteopetrosis.
“When we started looking online for information about osteopetrosis there was very little out there, we set up the page for the next family who finds out their child has osteopetrosis.
"Since setting it up, we've had people from mainland Europe, America and England thanking us for sharing our story.
“It made them feel a little bit better, being able to speak to other families about the same condition is brilliant.”
Rare Diseases Ireland is a non-governmental organisation with the mission to act as a national alliance for voluntary groups representing the views and concerns of people affected by or at risk of developing genetic or other rare diseases.
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