Lincoln mum calls for more research into rare disorder after baby girl’s tragic death

A Lincoln mum is holding a fundraiser event in memory of her baby girl as she continues to call for more research into a rare disorder which her happy and smiley Maggie-May sadly died from earlier this year aged just six months old.

Maggie-May Williams was born four weeks early by c-section at Lincoln County Hospital on July 20 last year. Her parents Amber-Rose Bryans and Ryan Williams didn’t know she had a genetic condition, and in the weeks and months that followed Maggie-May saw hundreds of medical professionals in Lincoln, Nottingham and Leicester.

However, only one doctor was able to recognise she had Smith-Lemli-Opitz syndrome (SLOS), when she was three-and-a-half months old, and at this point she was put on cholesterol medication and her life expectancy was not known.

Maggie-May’s mum described her as “happy and smiling constantly” despite her baby girl having to endure three heart operations in her 10-week stay at Leicester Royal Infirmary, before being discharged at the beginning of December last year.

She then had multiple medical appointments each week for a month until she was taken back into hospital due to issues with her breathing, before sadly dying on January 11, 2022.

SLOS is a genetic condition that affects many parts of the body. It is an autosomal recessive genetic condition caused by changes in the DHCR7 gene.

And Amber-Rose is determined to push for more research about the rare condition.

She told The Lincolnite very little is known about the condition in the UK, and there is no SLOS charity in the whole of Europe, something she wants to change, even if it means setting up one herself.

She said: “I think it was very sad when I learnt what it was. There is no real research out there spanned over a long period of time and (at the time) no way of knowing how her childhood would be and how we would manage the condition.

“We didn’t know anyone else with a child with the condition. We came to terms with it and accepted that her life would be different to everyone else and she was very loved. There is very little research with it and if I was to have more children it is likely they will have the condition.

“I slept in a chair by the side of Maggie-May’s bed for four-and-a-half months and she was on a ventilator. Seeing your child poorly is really horrible and I wouldn’t wish it on anyone. There needs to be more search on the condition and how better to manage it.”

Maggie-May’s story

Amber-Rose said: “We knew she had a heart condition while I was pregnant and we went to see specialists in Leicester for scans.

“I had a difficult pregnancy and towards the end I was having four scans a week in Lincoln and Leicester as she stopped growing inside me. I had a c-section four weeks early.

“When I gave birth they took her to a table to check her over and they kept looking at her feet. I didn’t understand why and I kept asking them questions.

“She had six toes on each foot but that hadn’t been picked up on any scans. It is a sign of the condition, it’s called polydactyl. Her second and third toes were webbed which is another sign of the condition.

“Because it is so rare they still had no idea and she was sent to the intensive care neonatal unit (in Lincoln). It was then that she was sent off for further genetic testing due to other anomalies – cleft palette, bifiduvula, heart condition, and the six toes on each foot.

“She was discharged from Lincoln at seven weeks old. We were home for two weeks, then we went back to hospital as she started projectile vomiting and losing weight rapidly.

“We were transferred to the children’s cardiac at Leicester Royal Infirmary where they had more facilities and specialists. We saw a genetic specialist and by the afternoon they called me with what it was suspected to be and bloods were sent off to confirm it. They took bloods from me and my partner to see if we are carriers of SLOS.

“They were able to tell me that every child has different health conditions with the genetic disorder. Maggie had three heart conditions so was on the severe end of spectrum, but she was so happy. She was constantly smiling throughout despite having canulas and x-rays. She was always still so happy.”

Miles For Maggie

Amber-Rose and her aunt Lisa-Marie Loy, who she describes as “a big part of my life”, joined forces to create a fundraiser called Miles For Maggie, which will take place on July 24 before becoming a yearly event.

It will see a large number of people taking part in a 25 mile walk, starting and ending at The Lincoln Imp pub on Blankney Crescent. 

The event will include a large raffle with prizes from local businesses, including Dough LoCo, Damons, Buds & Blooms, Richard Betts, Grillin ‘N’ Chillin, and more. There will also be live music, face painting, a bouncy castle and cake stands.

All proceeds will go towards raising money for research for SLOS as Amber-Rose said “there is currently very little research happening for this disorder in the UK, or even in Europe”. The money will go towards the genetic department at Leicester Royal Infirmary unless she can find an SOLS charity or set one up herself.

Amber-Rose is currently in discussions at Leicester Royal Infirmary and hoping to get a doctor on board as she continues in her push for further research to be done into the rare disorder.

She has also spoke to the Smith-Lemli-Opitz/RSH Foundation, as well as some parents who are mainly from America, about SLOS. And she received a “lovely postcard and bracelet with Maggie-May’s name and date of birth on it” from the foundation’s founder Gretchen Noah.

Amber-Rose added: “What I would like to see happen is more medical professionals knowing what the condition is and how to treat it, so children with the disorder can have a better quality of life.”

As well as raising awareness and calling for more research, Amber-Rose also wants to help other parents of children with complex disorders saying: “I’d be happy to talk with them as I know how hard it is”. Anyone parents wishing to speak with Amber-Rose should email [email protected].