We spoke to Bethan who’s daughter Florence has been diagnosed with Mosaic trisomy 8, a chromosomal abnormality that can affect many parts of the body.
Bethan is mum to Florence who has Mosaic Trisomy 8 (T8M). Bethan’s pregnancy was fairly uneventful and normal up until the 28th week of pregnancy when it was discovered during a routine midwife appointment that her bump was measuring bigger than they’d expected at that point in her pregnancy. The midwife sent her for a scan to check the size of the baby, which she had to attend alone as it was during the early stages of the pandemic. After the scan was complete a consultant explained that they had found fluid on the baby’s brain and that they’d therefore like to do a repeat scan in two weeks. The second scan showed that the fluid amount had increased so she was sent for an MRI in utero.
During the appointment for the MRI blood was also taken, to enable genetic testing to be done, and an amniocentesis was carried out to check for Down and Edwards syndromes. The MRI revealed agenesis of the corpus callosum (ACC), a rare congenital condition in which the corpus callosum fails to develop fully. Some babies with ACC have a partial corpus callosum, but in Florence’s case she didn’t have a corpus callosum at all. The genetic test results came back a few days later, and the midwife rang Bethan at home to tell her that her baby had Trisomy 8 mosaic syndrome. They couldn’t tell her exactly what it was, telling her that the genetics team would call to discuss it further. Feeling overwhelmed and alone she and her partner Kerry decided to try to find some answers; “that night we started reaching out to other families via online support groups, and we learnt so much that way”
Photograph by Ceridwen Hughes for Days of Rare exhibition
Her parents knew that Florence would have learning disabilities. She is physically delayed for her age but as Bethan explained;
She is doing really well … all of the children with Trisomy 8 are so different, so some children might be delayed and some children might not be delayed at all. Florence does well with things like pureed or mashed foods, those are things that she can eat, whereas lots of other children can’t tolerate any food orally. There are some physical features or characteristics associated with her condition. If you saw her just sitting in her pram you wouldn't think ‘Oh that child's got a disability,’ but she’s got some of the features.
Florence has had to have monthly appointments to get weighed because she's struggled to gain weight, and because she’s underweight and petite for her age she still looks like a baby. Sleeping is a huge struggle for her, as with many children with the condition, she is simply wide awake for long periods of the night, which also means her body is constantly using a lot of energy, which in turn is linked to her weight issues. The family finds it exhausting and hard, but they know it’s part of her condition;
It’s not like she just doesn't want to sleep, her brain won't let her sleep so there's nothing we can do to make her sleep. It can be hard when people say things to us like ‘she's a baby and babies don't sleep’ because she isn’t going to just simply grow out of it.
The family doesn’t know exactly how Florence will develop as she grows and it’s difficult sometimes not knowing, but they are amazed by her and find her strength and determination inspiring. Bethan says;
We know she’s not going to be hitting milestones when she’s meant to, but I think she'll do it. I definitely think she'll do it, as parents we always say ‘oh, she's definitely going to. She will sit up, she will crawl and I think she'll walk one day as well.’ It might not be until she's four or five, but I really believe she will. When she does something a little different or new, it's just that bit more exciting. Obviously, don't get me wrong, we have days where it’s hard. It’s impossible to be positive all the time. If we both end up being down that's the worst thing, thankfully it doesn't happen too often, that we have a day when both of us are down because she's lovely, and she's so good and she's so happy. She's not crying, she's not upset.
Mosaic trisomy 8 is a chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. Children with trisomy 8 mosaicism have a characteristic and recognisable pattern of developmental abnormalities which can include moderate to severe learning difficulties, variable growth patterns and many musculoskeletal, visceral, and eye abnormalities.
Talking about Florence’s diagnosis Bethan explained how she felt;
You never imagine it is going to happen to you. From that very moment, when they told us, our whole lives changed. It can be very, very lonely, and we have felt isolated. Sometimes it’s hard to see other babies and children doing the things she should be doing. It can almost be hard to be happy for other people when they post about the things that their babies are doing, and your baby can’t do it. I think people shouldn't feel bad about feeling sad, and feeling things like that because it's just so normal to feel that way.
The family has found both practical help and comfort and friendship in talking to other people with children with the same condition. It has helped them to navigate her diagnosis and journey.
It has massively helped to speak to people that do understand what we are going through, and are living it as well. I’m on a global WhatsApp group with other parents and we speak to each other all the time, we talk every day and it's lovely. It's great. And that's comforting.
Unique
The organisation provides information, support and a network for families affected by rare chromosome and gene disorders.
The National Organisation for Disorders of the Corpus Callosum
The organisation’s mission is to support individuals and their families with disorders for the corpus callosum, whilst also seeking to raise the profile and understanding of these disorders through education, advocacy, and research.
You can listen to Bethan’s chat with Ilmarie Braun, Same but Different Project Manager on our podcast channel.
More stories from Days of Rare
