A DUBLIN mother is appealing to the public to donate blood after her young daughters received a life-saving bone marrow transplant.
Sarah Nolan from Clontarf has come forward. rare disease day We talk about our two-year-old daughter Aine, who has marble disease.
Pelosia, or petrosia, is characterized by excessive density of bones throughout the body.
Infantile marble disease affects 1 in 250,000 people. If detected in the early stages, the only treatment is a bone marrow transplant.
The twins, Aine, have been hospitalized several times, the longest being 108 days.
Aine’s mother told Dublin Live: She said, “Aine is a very happy girl, she is very cheerful and has a wonderful smile.
“She underwent a life-saving bone marrow transplant in July 2021 and has been admitted to the ICU twice, developed sepsis twice, and experienced many more transplant complications. She suffered from hydrocephalus due to damage caused by her thickened skull. and suffers from visual impairment.
“Our love never stops despite all of this. She is always smiling and laughing and is very cheerful.
“Being a twin, we can directly compare what milestones she should reach, but she may not be doing exactly the same things as her sister.
“She walks around the furniture, crawls, and plays with age-appropriate toys, just like her sister. She has never stopped her illness.”
Sarah and her husband Stephen found it difficult at the beginning of their journey as they were constantly in and out of A&E and clinics.
Sarah continued: She said: “When she was admitted at four weeks, we knew something was wrong with her. Her phosphate and calcium levels were found to be low. I was constantly in and out of outpatient clinics for this reason.
“She had fluid in her brain and was diagnosed with hypophosphatemic rickets in December 2020, but an X-ray in January revealed she had been misdiagnosed.
“We found out she has marble disease. Things that can be affected include hearing, vision, growth problems and hydrocephalus.
“I Googled marble disease and was completely terrified. If she hadn’t been eligible for a bone marrow transplant, Aine might have only had two years to live.
“The family was tested to see if they were suitable for a bone marrow transplant, but they were not matched, so the Irish Blood Commission had to go to a wider pool in Ireland, but there was no match, and then internationally It had to be done. Aine’s donor was from Germany.”
Little Aine Nolan and her family
Sarah and Stephen have four children, ages 4 and 9, and twins aged 2. She was full of praise for her friends and family, especially her parents, for their support.
“It was tough, but thankfully my parents lived next door, my mom was a great babysitter, and my dad was my personal driver when he took us to doctor’s appointments. .
“Everyone has been so hospitable, friends, family, neighbors and strangers have been amazing.
“I was worried about telling people about my diagnosis because I have a sick child and I didn’t want my family to look at me in a different light, but that didn’t happen at all. Your support has been so great. It was.”
“Aine has the absolute best people and that makes it so much easier. We feel really loved.”
The girl hasn’t had it easy, but she remains positive while spreading her good energy to those who are having a bad day.
“Aine had a shunt fitted in April last year and was conditioned for a bone marrow transplant in June. She underwent 16 rounds of very strong chemotherapy over eight days to completely wipe out her entire body. was held.
“After the transplant, Aine had hemolytic anemia, lung problems, excess fluid around her heart, her spleen grew 3.5 centimeters, she developed sepsis again and had to spend three days in the ICU, but she None of that bothered me. I’m happy,” Sarah continued.
“Many of the staff said that if they were having a bad day at work, coming to Aine and giving her a hug and a kiss would cheer her up. While they made her feel better, she The day was well spent.”
Sarah has been trying to raise awareness online to encourage people to donate blood and opt-in to the bone marrow system.
She said: “Aine also had over 40 blood and platelet transfusions, which opened our eyes. Before she was born, I would never have thought of donating bone marrow. We now strongly encourage those who are eligible to donate bone marrow to do so.
“Finding a donor in Ireland was difficult because the bone marrow system is opt-in within Ireland.
“At the girls’ baptism ceremony, which was held the day after their birthdays in May, we received T-shirts that said, “Please help us donate blood,” and we took pictures with them.” Aine’s Instagram.
“We set up this event to raise awareness of the disease as infantile marble disease is extremely rare in this country. Only five or six people in Ireland have been diagnosed with any type of marble disease. I think.
“When we started looking for information about marble disease online, there was very little information. We set up the page for the following families who find out their child has marble disease. .
“Since our founding, people from mainland Europe, the United States and the United Kingdom have thanked us for sharing their stories with us.
“They’re feeling a little bit better. It’s great to be able to talk to other families about the same symptoms.”
rare diseases ireland is a non-governmental organization with a mission to act as a national federation of voluntary organizations representing the views and concerns of people affected by, or at risk of developing, genetic and other rare diseases.
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