What is CdLS?

CdLS is Cornelia de lange syndrome, a rare syndrome caused by a change in one of 7 known genes. Most changes are de novo which means a spontaneous gene change on conception, which means it can happen to any family. 

CdLS affects 1 in 10,000 - 30,000 births. Molly has a gene change on her RAD21 gene, which affects 1-2% of individuals with CdLS. 

CdLS can affect an individuals physical appearance, their development and their health and each individual is often unique in their challenges with overlapping common CdLS symptoms. Molly has been more affected in her health than she has in her development or her physical appearance, however this caused a delay to her diagnosis as there was not enough awareness on how her gene change displays and she was labelled Mystery Molly for many months before the power of social media showed me another little boy with CdLS and I knew this was the syndrome she had. A referral to genetics and some blood tests later and at 12 months old she was diagnosed with CdLS. After her diagnosis, her care was much better managed and we were able to use the CdLS medical guidelines to give her a full health check over and better understand her conditions. 

Why fundraise?

The CdLS Foundation UK & Ireland is run completely on charity donations. It provides direct support to newly diagnosed families and existing families but enabling information to be at hand and being able to put individuals in contact with CdLS Specialists. They also hold a conference twice a year where families can come together to meet and socialise and book appointments with professionals to gain personal advice for their loved one with CdLS. 

Just prior to Molly being diagnosed, we joined the family support group online run by the foundation and were welcomed with open arms to the CdLS family. Advice given helped answer questions we had and it meant when we received Molly's diagnosis, we were not scared or upset because we knew we had already found her extended family. 

The Foundation has created a guidelines for the treatment of CdLS which is a valuable document to any professional with an individual with CdLS under their care. It sets out the regular tests and checks they need to have and ensures their care is managed effectively. It helped guide Molly's further care after her diagnosis and meant she was seen by all the right professionals and further investigations started to help find answers to her medical needs.

Why raise awareness? 

I found out about CdLS via social media when another mum, in a photography group I was part of, had posted a grid post about her son and his rare syndrome. The moment I saw his picture with his smaller frame, small hands and feet, arched defined brows and smaller head and delicate features, I knew finally this was the syndrome that Molly had. I had been researching since the day she was born and this was now 8 months later. Her doctor was not convinced at first, having only knowledge of classical CdLS and not having seen someone with features like Molly who only resembled parts of CdLS, so we were referred to genetics for when Molly was 10 months old. Thankfully her genetics Dr had been to one of the CdLS conferences and had the knowledge that CdLS comes in all varieties and agreed with me that she should be tested for the syndrome.

After Molly was diagnosed, I made it our family pledge to continue to raise awareness of the syndrome, particularly non classical CdLS in the hope that it might mean an earlier diagnosis for another child. We use our instagram page @samsuedreams to show the joy that Molly has brought our family and share her story through ups and downs. We hashtag the pictures and have had families from across the world contact us. We have had newly diagnosed families reach out or those who are querying CdLS for their child and its been lovely speaking with everyone and giving back to those in the same position we were in 2019. 

Ipswich town hall and 153 Princes Street, home of Curtis Banks will light up purple on Saturday 14th May 2022 to raise awareness of Cornelia de Lange Syndrome. Purple is the worldwide representation of the syndrome. 

Molly's story 

Molly is our rainbow baby. When I was 36 weeks pregnant, I was admitted to hospital for monitoring because I'd had a bad migraine and reduced movements. They scanned me and discovered my baby was very tiny and her head was averaging around 32 weeks. The decision was made to induce me at 37+4 and Molly was born weighing 5lb 4oz but breathing on her own and doing ok. It was clear however from birth that she had feeding difficulties as her jaw seemed locked and she didn't wake to feed. Being my 3rd child, I set 2 hourly alarms 24/7 to feed her and she was syringe fed expressed milk for days before moving on to very tiny bottles averaging about 1oz every 2 hours. 

Our health visitor monitored her weight but because she never lost any due to our strict routine, she was deemed as doing ok. Around 4 weeks old her reflux and mucus problems became worse and this was when she had her first A&E visit. Prescribed reflux meds and told colic we endured more screaming and mucus throw ups from her for the next few weeks, visiting A&E again at 6 weeks. By 8 weeks old she had her first dose of bronci and her feeding declined further and she threw up her first 'old blood damage'. By 12 weeks she was admitted to hospital with bronci and RSV which then turned into pneumonia and this is when she had her NG tube inserted and we would rely on a feeding tube for the next 2 years. 

It was clear to me that she had some kind of syndrome and inability to fight illnesses correctly as well as feeding problems. Molly spent 5 weeks in hospital that spring fighting off various illnesses and inability to keep feeds down, including a transfer to Addenbrookes over Easter weekend. No one had any ideas and because her development was doing ok (tracking, smiling, rolling) then no one thought she could have a syndrome which are typically associated with development delay and low tone. 

My research started into the various syndromes and I was amazed by how unaware I was of all the gene changes and complications associated. I explored a few ideas and read lots and lots of information and looked at a lot of pictures. The internet can be amazing in this day and age at having the information at your fingertips. 

Molly had pneumonia again at 6 months old and we also learn shortly after that she had reacted to any of her baby vaccinations and her body hadn't been able to make any antibodies against them. Her IgA levels were low, which meant she didn't have the ability and was why the common cold kept taking her down and landing her in hospital with oxygen support. 

By the time she was 9 months old it was clear she would need a longer term feeding solution in the form of a stomach tube. Her NG tube caused daily trauma and she was constantly pulling it out due to the stickers causing her face to be red raw. It was around this time we finally got some good referrals for further investigations and she had tests such as a CT scan on her lungs, ultrasound on her stomach, barium swallow tests and we got to see genetics. I was set on the fact she had CdLS by this point, it all just added up - the severe reflux, the immunity issues, the small hands and feet, the defined brows and small head and the tiny stature and poor weight. 

Molly got her peg feeding tube at 11 months old and it changed our lives. The trauma from constantly watching the NG tube eased and there were less tears and with pump feeding we were able to manage more of her care at home before the need for hospital. Molly fought RSV again just after her first birthday and came home in time for Christmas and her CdLS diagnosis. 

The year 2020 was a good one for us, coupled with the discovery that if she took long term antibiotics, her mucus was more under control and she could eat without throwing up, that and the whole world kept their germs to themselves, she had one of the best years of her life. 

With improved health, Molly learnt to walk, learnt to drink through a straw, start talking, eventually running and jumping. We kept out of hospital for 10 months and we weaned down to one tube feed. 

By the time it was her 2nd Birthday, we made the decision to go ahead and wean off all tube feeds. We would have to prove she could eat and drink orally to keep well and also keep her weight up. It was a 3 month trial that she passed and she was approved to have her tube removed when she was 2.5 years old. 

Molly's mucus issues still remain a mystery and we are still in the process of working out which tests to carry out to find answers. It does not appear to be directly linked to her CdLS but we have since discovered she has smaller airways, glue ear and a submucous cleft palate that link to a lot of her challenges. Molly continues to do amazing in her development and is a chatter box in her own home but suffers from extreme anxiety in other settings and we are working to allow her to use her voice at nursery, a place she remains non verbal currently. Her favourite things are animals, babies, puzzles and colouring, like most 3 year olds! 

Molly has overcome so much in her short life already and continues to show us how brave and inspirational she is, she reminds us we can get through anything and we will. 

We raise awareness in the hope that other families can get the help and support earlier in their child's life and get to a point their health is managed better and they have the resources available to them that they need to thrive. We support the foundation each year to help give back the valuable support and information we have been provided since Molly's diagnosis in 2019.