CIARA

Ciara was born 18th June 2018. She is our youngest child. She was a breech delivery, born at 37 weeks. She was 6lbs 14oz and 20 inches long. Nothing prepared us for what was to come. Ciara passed all prenatal scans with flying colours. She was monitored and scanned weekly.
From the onset Ciara faced many challenges, being fed by NG tube for a time as a new-born, Ciara was unable to suck the bottle and has hypotonia. she was the biggest baby in the NICU. She was transferred from the Rotunda to Temple Street for further investigations.
As time passed and Ciara’s milestones got more and more delayed and we needed answers for her. The medical team and specialists over her care had no answers. Her FISH test, microarray, MRI, each and every test always came back normal, her blood work for other syndromes that she was tested for came back negative.
Despite this reassurance we knew in our hearts that Ciara may have a Genetic Syndrome but we didn’t know what it was. Still, we kept pressing Ciara’s medical team for answers.
Ciara has always presented with delayed milestones, delayed speech, hip issues, Intellectual disability, hypotonia, problems with her eye site, the list goes on. She has seen several specialists, she is currently receiving Occupational Therapy, Speech Therapy & Physical Therapy. Ciara’s Intellectual disability and speech delay remain her biggest issues. Despite Ciara’s speech difficulties she knows every word you say. She didn’t take to Lamh (sign language) but lets us know what she wants in her own unique way. Ciara is doing very well and is making good progress.
Finally in June 2020 after a 6 month wait on the Whole Genome Sequencing testing for the three of us, we had a result. Ciara was diagnosed with a de novo mutation on her KANSL1 gene, located on chromosome 17 (17q21.31) also known as Koolen De Vries Syndrome. KDVS occurs in approximately 1 in 55,00 people. We finally had answers but were also scared and confused about what this meant for Ciara’s future. We googled and researched everything we could about KDVS and joined Koolen De Vries Foundation and Rare Ireland groups where we have connected with other parents.
Although KDVS is pretty rare, Ciara has the rarer kind. It typically occurs due to a dealation of the KANSL1 gene rather than a mutation. KDVS remains a Syndrome that is extremely under diagnosed. We are still not certain about what the future holds for Ciara but we are relieved to finally have answers. She is being monitored closely by her medical team and continues to improve. Ciara is a real character and pure joy. Her laugh lights up any room. She has since started playschool and adores her AIM teacher. Ciara loves an outing, when you read her a story, acting out her favourite nursery rhymes and wearing a selection of her favourite hats.

DANNY

Danny is 7 years old and was born with a number of rare conditions, a heart defect called Truncus Arteriosus with an Interrupted Aortic Arch, Microcephaly, Autoinflammatory Disease, he has an Intellectual Disability and is non-verbal.
Danny's overall diagnosis is still unknown, he is referred to as a SWAN or Syndrome Without A Name.
Danny has spent his whole life in and out of hospital with a number of open-heart surgeries, cath lab procedures, feeding tubes, and picc lines to treat infections.
The most challenging part of Danny's life has been the misdiagnosis of syndromes. The journey to get diagnosed with an Autoinflammatory Disease took 7 years, but which type of Autoinflammatory Disease is still unknown.
It can be managed very well on the right medication which has greatly improved his quality of life. We are hopeful that someday Danny will be diagnosed, I feel like getting a diagnosis is really important. Whilst I understand diagnosis won’t change anything it could give us a glimpse to what the future may hold, as right now we are walking through it blindfolded, not knowing what may lie ahead for Danny. With a diagnosis we could connect with other families as it can feel quite isolating. While life has been extremely challenging it has also been extremely rewarding to care for Danny.
He has taught us more about life than we could have ever imagined and it’s been fascinating to watch him learn and grow in a different way than most.
Danny is non-verbal but can use Lamh (Sign Language), sounds, gestures, pictures to communicate. More recently he has started to use a communication device.
Danny is a very happy little boy who loves his little sister Willow and all his family. He loves music, dancing and watching movies. He is full of life and energy and is very mischievous, there's not a day that goes by that he doesn't have us laughing. He really is the light of our life.
By Danny's mam Carol Molloy

ISLA

I Mary, Isla's mam, have a balanced translocation. This means the tip of one arm of my chromosome 4 and 8 are swapped over. As I have all the necessary genes it doesn't impact me. I got this diagnosis based on having siblings with special needs both of whom were un and misdiagnosed. I inherited this from my mother. I was given a 30% risk of having a child with an unbalanced form of this, whereby when the egg is formed with either the 8 with a bit of 4 and a normal 4 or vice versa.
When I was pregnant with Isla, I had amniocentesis which confirmed she had a normal 4 Chromosome but her 8 was the arm with the extra bit of Chromosome 4. Overall, her diagnosis is a duplication from 4p.16.1 and a deletion from 8p23.1. She showed nothing out of the ordinary in her anomaly scan, but was induced 2.5 weeks early due to concerns on her size being a bit too large. I met with her now paediatrician while pregnant and we discussed how birth and how her care would go post birth.
She was born 27th June weighing 8lb 11. Two of the paediatrician’s team were present. She had great Apgar scores. She did need to go into neo natal as I had a continued high temp and we both needed 48-hour antibiotics. But this was totally unrelated. While there she was checked daily by the docs and they found nothing out of the ordinary. Her one and only hospitalisation was at 5 days old when her jaundice hit bad. Once home she fed and grew well, pretty much like any other new-born.
At her 3 months check-up she had some head lag so she was referred to early intervention for physio. Over the next year or so with the physio's help, she reached most of her milestones albeit at the later end of normal. She could stand at 18 months but didn't walk at 21 months. Her cognitive differences became more apparent from 18 months onwards. She never progressed much beyond babbling. She has never really pointed or waved. With her SLT we tried Lamh but she really didn't get it. She communicates mainly by gestures but she does have some words. Her receptive language is poor but improving. Her intellectual delays are her biggest problem. This combined with the language issues makes it very hard for Isla to learn. She is very good at watching and learning but it takes a lot of repetition.
Last year she started in our local preschool. She has a 1:1 assistant via AIM. She has just started her second year. She loves it there and is making slow progress. She will go to special school next year. We hope this tailored environment will help Isla continue to progress.
Medically everything is going well, she has a yearly check up with her paediatrician. Physically good too although she can be a bit unbalanced.
She is an outgoing, friendly girl and loves being around other children. She adores animals, playing basketball (she can shoot into a hoop!), bouncing on a trampoline, Instagram reels and being out for walks.

ÁINE

Áine Nolan is almost 2 and in March 2021 she was diagnosed with a rare metabolic bone disorder called Autosomal Recessive Infantile Osteopetrosis.
Osteopetrosis, or stone bone, is characterized by overly dense bones throughout the body. Infantile Osteopetrosis affects 1 in 250000 people and the only treatment is a bone marrow transplant as long as it is caught in the early stages.
Thankfully Áine was eligible for a bone marrow transplant and since diagnosis she has had a lot of ongoing health issues like a shunt fitted due to Hydrocephalus and visual impairment due to damage done by her thickened skull bones, she has had numerous blood and platelet transfusions, Sepsis twice and has ended up in ICU twice.
Áine had a lifesaving bone marrow transplant on July 8th 2021 and is now doing so well after having a lot of complications in the early stages post-transplant which included numerous infections, Graft versus host disease, haemolytic anaemia and mucositis.
From June 27th to October 13th 2021, she spent 108 days in isolation on a high dependency transplant ward in St John’s. Áine is such a happy little girl and no matter what she is facing she will always do it all with a smile.
As parents we struggled at the start of her journey as Áine was always in and out of A&E and doctors and they found ourselves explaining our daughter’s situation to doctors and nurses because it is just such a rare condition and it wasn’t something they were ever taught about.
Since entering the doors of St John’s Ward that feeling has definitely changed as the knowledge of the condition had been heard of before as another patient had had it a few years ago, it was nice not having to explain everything from the very start again.
The support we have all been shown is absolutely incredible.

NOAH

At our 12 weeks scan we were so excited to see our little baby, we joked if we could tell if it was a boy or girl. The nurse did the scan as normal and we saw our baby kicking and moving but the nurse wasn't saying anything only that the screen on the monitor kept shutting down and that she needed to be excused for a minute. She left the room, and later returned with another nurse to continue the scan.
I noticed she was wiping tears from her eyes, she then said “there's something wrong with your baby”. My heart dropped; I couldn't understand what could be wrong as I could see him moving. The nurse told us there was fluid on his neck and it would mean it's either a heart condition or severe Down Syndrome, but either way the outcome looked very poor for survival. She told us to go to a private room where a doctor would speak to us about our options, including a termination.
We opted to have an Amniocentesis before we could make our decision. We spoke about abortion, if my baby was going to die after he was born. I knew I couldn't cope with that for the rest of my life but his Daddy thought about the opportunity of meeting him even for a short time. It was such an awful discussion to have to make.
Two weeks later the Amniocentesis came back clear and the fluid on his neck was disappearing. We were now we were told we were going to have a healthy baby boy.
I was ecstatic and thought no more of the scare we had earlier in the pregnancy. I was scanned every month, and all was brilliant.
Noah was born on March 22nd, 2017, all went well but soon after delivery we both spiked temperatures. Noah had fluid on his neck, but the Doctor told us not to worry as it was only like a fatty tissue. He needed to go to intensive care as he was jittery due to low sugars levels, he also had infection. I was sent to the ward and was on antibiotics for a week so couldn't see him much. Noah ended up in High Dependency but eventually a week later we got home.
For the next few weeks, he was so hard to feed, wasn't gaining weight and his colour was awful so I went to numerous doctors, but they all said that he was fine. I went to our Public Health Nurse, she was getting concerned too. I took him to the hospital because I knew I was feeding him constantly and couldn't understand why there was no weight gain.
At the hospital doctors heard a tiny murmur and said he would be referred to Crumlin to the heart specialist to have it checked.
A few weeks later we saw the Cardiologist, Noah has a very large ASD which would need to be surgically repaired. He also noticed Noah had signs of a Syndrome and Liver Edge and Pulmonary Hypertension. He sent us home with a plan to talk further in 8 weeks.
Noah had a check-up in Limerick the day after and doctor wasn’t happy so admitted him into hospital. This is where the journey began. We were in hospital for three months between Crumlin and Limerick. Noah was a mystery as he had so many complications and went into heart failure.
He was rushed to Crumlin where he had more tests done and concluded that he had an ASD, severe Laryngomalacia, which is obstruction of the airway, Severe Sleep Apnoea, Rare Chromosome Deletion and Scoliosis. He had two heart surgeries and surgery on his airway.
Without immediate action from both Crumlin and Limerick hospitals Noah would not have survived.
We are sharing our story try to raise awareness about CHD and to show our gratitude to everyone who helped us including Heart Children Ireland.
Noah’s heart condition wasn't noticed until after birth and he did look good for a few weeks, but I knew something wasn't right with my baby. So, if in doubt keep fighting for the right answers. Thankfully Noah’s condition was found in time and we have a great team looking after his conditions now.

RION

Rion was born in 2011, is a very happy child. I noticed that he had a very unusual marking on his leg so mentioned it to the doctor and who said that it was probably just a birthmark.
At his six-week check-up the marking had become worse, it was like a vein running all the way up his leg to his hip. His doctor referred him to Crumlin where they carried out genetic testing on Rion.
The results then came back that Rion had an ultra-ultra-rare progressive disease called POH progressive osseous heterolalia. This causes bone to grow under the skin deep into the muscles, ligaments, tendons, nerves and blood vessels etc. it causes growth problems of the affected area, mobility problems and severe pain. Nothing can be done to help Rion in any way. He takes medication but they can’t operate or remove any of the access bone as this can cause further progressing of the disease
Rion falls a lot because new bone formation, therefore we have to watch him closely. He can walk but only around the house uses a wheelchair for school and going out. The extra bone also pops through the skin at times causing sores. Rion the only one in Ireland with POH and one of 100 in the world. They are currently trying to find a cure for POH but it is unlikely to be in our lifetime. Rion’s legs are stiffening with the extra bone growth, literally turning rock hard.

SARAH

Sarah is 5 years old we believe she is the only ZTTK case in Ireland. We think there might be 3 cases in England and about 200 worldwide.
Sarah was delivered at 37 weeks and weighed only 4 pounds. Sarah failed to thrive from the very start, feeding her was extremely difficult. At 5 months old we discovered she had a large hole in her heart which required open heart surgery. She recovered really well but it didn't resolve her feeding issues. At 6 months old we discovered that Sarah had 3 healed fractures, and so the testing started. A year and a half ago we received the diagnosis, ZTTK.
For Sarah, it affects her from her head to her toes. She has a brain malformation called Bilateral Polymicrogyria, this affects the signals in the brain and can cause seizures. Sarah has issues with her eyesight, feeding, poor muscle tone, hypermobility and epilepsy.
She is nonverbal and currently unable to walk. She also has Osteopenia. She has been through so much in her short 5 years. She is our princess warrior and her smile and laugh lights up the room. Everyone who knows her absolutely adores her. We are so proud of her and her big brother James.