Cystic fibrosis and newborn screening

Edith was diagnosed with cystic fibrosis (CF) in January 2014 when she was just a few weeks old following a routine newborn screening test. Her mum, Claire, reflects on family life and her hopes for Edith’s future.

"The midwife completed the routine heel prick test when Edith was 10 days old. It was a very simple process; she took the five blood samples and it was sent off. To be honest we didn’t really think much more of it. Then a couple of weeks later we received a phone call from one of the CF nurses at Great Ormond Street Hospital (GOSH) informing us that there had been some abnormalities in the results. Being told that Cystic Fibrosis was a possibility was a complete shock to us. CF is not in either of our immediate families and there were no apparent symptoms that Edith had the condition. It was an awfully long and tiring night however on reflection, we are grateful for the immediate response. We didn’t have days to ponder; we were invited to the hospital the very next day to conduct a sweat test." 

Diagnosing CF

"The following morning, we were waiting in GOSH reception. I remember ‎feeling sick to my stomach whilst we were waiting to be met by the CF nurse. Seeing other children who were really poorly was hard, but at the same time it made us realise that we were not alone. We discovered that Edith had tested positive for cystic fibrosis later that day. Our first reaction was shock. I felt numb and was in disbelief. I couldn't believe that this was happening to us and kept looking at Edith, only being three weeks old, and thinking 'but you look fine'. 

"We are grateful for the heel prick test. As Edith was showing no obvious symptoms for Cystic Fibrosis, it may have been diagnosed later in life and may have caused more unknown damage to her lungs. We are fortunate that it was picked up through the newborn screening while she was healthy because they can now put measures in place to prevent her from getting really ill."  

Support from the team

"Neither of us knew a lot about the condition. However, when we attended the education day, the team were very quick to inform us about CF today. The Cystic Fibrosis Trust have been a great support too. While it was, and still is, quite a lot to take on board, the support has made such a difference and the care has been brilliant. 

"Edith has a consultant, Dr Suri, and an entire support team that includes CF nurses, physiotherapists, psychologists and dieticians. They are all excellent. When we visited the hospital we had a long list of questions about the condition and the CF team were more than happy to answer each one in detail. 

"They are easily contactable if I ever have concerns or need questions answered. They also understand that Edith is our first child so I have the normal ‘first time mum’ worries. The team have a direct number and I can leave a message knowing they will ring back that day, even on weekends. The CF email system is a valuable tool that they offer. I can contact them via email no matter how trivial it may be. It’s always the same team of people, so they know Edith really well."

Outreach and check-ups

Edith now
"Initially the team saw Edith weekly; it then progressed to fortnightly then monthly. They have been really happy with Edith and now we attend clinic appointments once every two months. The nurses and physiotherapists have conducted home visits, and GOSH now offer an outreach programme where the team hold clinic appointments at local hospitals. We attend Basildon hospital when the team are there, which has made such a difference. 

"The team liaise with the community nurse in our area, so if I have any concerns, I can ring her. She can listen to Edith’s chest, take her saturation levels and take cough swabs. This information is then passed onto the CF team so we don’t necessarily have to go to the hospital each time something occurs. As CF is such a specialist condition, the local community nurse has a really good understanding and communication with GOSH." 

Treating CF

"Edith is pancreatic insufficient. Although Edith’s body produces enzymes, mucus blocks the vessels going from the pancreas to the gut therefore preventing them from reaching the food she eats. As a result of this, Edith takes little fat from her food and takes enzymes every time she eats anything with fats or proteins in. She takes antibiotics twice a day and is required to take vitamin supplements. If the weather is hot and Edith is sweating quite a lot, she loses salt and therefore has to take sodium chloride to supplement the salt loss.  

"Edith also has physiotherapy twice a day. This increases if Edith has a cough or a cold and we have a PEP (Positive Expiratory Pressure) mask to help clear the mucus. Although this is a lot for a child, we have just built this into our routine. Edith is our first child so we know no different!"

Daily life

"It’s a lot to remember with any baby, but with Edith, we need to ensure we have medication and equipment to administer it such as oral syringes and Creon (enzymes) scoops. Some medication needs to be refrigerated so we have to keep it in a cool bag if we are out, and Edith also needs her nappies monitored daily to ensure that there are no fats. If there are, the dosage of Creon needs to be changed. The dieticians are excellent and when we started weaning I spoke to them a lot about the change in her nappies. 

"One of the first things that Dr Suri said to us was that cystic fibrosis shouldn’t stop anyone doing anything and we feel the same way. We do avoid some places that harbour certain bacteria but we try not to let it impact or prevent Edith from doing anything. We make sure that we’re over-vigilant about certain things and things just take a little extra thought and preparation."

Living with CF

Edith at 6 months old with mum, Claire
"Edith is doing really well, gaining weight and climbing all over the furniture, she is very eager! She has had a few mild colds and most recently quite a bad cough and cold. Every time this happens we call the team and they monitor her closely. The most recent cold required for her antibiotics to be changed to a treatment dose (three times the amount of her normal dose) and her physiotherapy was upped to three times a day with the PEP mask. 

"Edith is such a good girl. She doesn’t make a fuss of all the medications she has to take (hopefully it will stay this way!) She doesn’t know any different. To her, this is the norm; another positive of the newborn screening picking it up so early. 

"The two comments we get the most about Edith are “she’s really content” and “she’s really smiley” and that just explains her to a tee. She is such a happy baby. 

"The main thing we want is for Edith is to be happy. We don’t want her condition to hold her back from anything. We don’t want her to think ‘I can’t do this because I’ve got CF,’ we want her to have the attitude ‘I can do this despite my CF’. 

"Being active is really good for clearing the mucus from her lungs and she is already doing a lot at eight months. We hope that this continues and she enjoys being active as she grows older. The main thing, like with any parent, is we want Edith to be happy and healthy as possible."  

Advice for others

"Write down as many questions as you want to ask, and don’t feel scared to phone and ask silly questions. We did and the team were brilliant at answering them. I’ve not worried ‘is this a silly question?’ or ‘is this something I can ask?’ I have just asked and it’s made me feel so much better. Also get to know your team because they are brilliant and being able to talk to them on a personal level has made such a difference. 

"It is a lot to take on but it’s not all doom and gloom. There are lots of things that you can enjoy just as much as you would with any other child. It is hard, and there are lots of ups and downs, but it is just about enjoying your child for who they are."

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