Despite an uneventful first pregnancy, for Sarah and Martin, their second was very different. At 12 weeks, it was suspected that the pregnancy may not be viable due to measurements being significantly behind for the gestational age. The obstetrician suspected a genetic condition but, due to the risks of miscarriage, an amniocentesis was declined. Weekly scans proved growth remained slow and following a drop in amniotic fluid levels, Merryn was born at 29 weeks, weighing only 1lb 13oz. Merryn was immediately admitted to the NICU, where she spent 11 long weeks addressing various medical complications, including neonatal diabetes, three heart conditions, a small brain bleed, weight gain issues, severe reflux, and hearing loss.
The journey to understanding Merryn’s failure to thrive has spanned her entire life of nearly 3 years. From antenatal scans indicating she was four weeks behind throughout the pregnancy, to now, at almost 3, weighing under 9kg and never making it onto a centile for her weight, Merryn conditions have stumped her Paediatrician, Endocrinologist, and Geneticist. She was born with a genetic mutation, ABCC8, responsible for several conditions including Neonatal Diabetes, low birth weight, and slow weight gain. Since around six months old, Merryn has been suspected of having a genetic syndrome due to her clinical signs, including heart conditions, slow growth, poor feeding, hearing loss, and developmental delay. The most likely diagnosis looks to be ‘Russell silver syndrome’ but Merryn also has some features of ‘Noonan syndrome’. Despite numerous blood tests, Merryn remains undiagnosed but ongoing genetic tests continue.
In the NICU and for her first few months, Merryn required insulin and hourly blood sugar monitoring round the clock. Fortunately, she transitioned to oral medication and gradually weaned off it, leading to her neonatal diabetes being considered in remission. However, there remains a 50% chance it could return in childhood or adolescence, necessitating regular blood sugar monitoring as Merryn often becomes hypoglycaemic or hyperglycaemic when unwell. It was also discovered in NICU that Merryn has anaemia & during her stay there Merryn needed 6 blood transfusions. She now takes iron medication & has regular blood tests for this which she’s not a fan of. Merryn also has a thyroid condition, so sees a lot of doctors at the moment. Merryn’s heart issues are regularly monitored, with slow/static growth being a primary side effect. In her first year, Merryn struggled with breathlessness during feeds and could not finish bottles, leading to the insertion of a nasogastric (NG) tube, which remained for her first year. Managing the NG tube was challenging, as Merryn frequently pulled it out, requiring multiple daily replacements which was traumatic for the entire family.
Feeding has been Merryn’s primary issue throughout her life. Regardless of the method (oral, NG, or PEG feeds), she fails to gain sufficient weight. Merryn can consume some food orally but does not receive enough nutrition, requiring supplementary PEG feeding with fortifiers and powders added to her milk and food. She has now started having all her foods blended & putting in the peg in an effort to help her gain weight. Merryn has since transitioned to a percutaneous endoscopic gastrostomy (PEG) for feeding which she’s now had for a year. Despite having regular peg feeds & blended diet given via her gastrostomy day & night, Merryn still hasn’t achieved a normal centile for weight or height for her age, but she has put on a little weight.
During a hospital admission, it was discovered that Merryn’s heart rate significantly drops overnight and whenever she is unwell, which has left the cardiologist baffled. Spot checks overnight are necessary to monitor her heart rate, which often falls to 40 bpm. These checks alongside her twilight PEG feeds, results in very little sleep for the family.
There are concerns that she may have a metabolic condition affecting her ability to absorb nutrients, and Merryn spends a lot of time at the hospital having blood tests. Managing Merryn’s weight and peg feeding has become a full-time job, with regular hospital & Specialist appointments to measure her weight & other medical conditions, take bloods and constant adjustments to her diet and medication. Merryn has also struggled with chronic constipation and impaction most of her life, due to insufficient fluid intake, meaning she requires additional water boluses in her peg between milk feeds and medications.
Merryn’s family has limited support due to the ill health of family members. This understandable lack of support impacts the family’s ability to take breaks or have time together as a couple, or 1 on 1 time with Merryn’s big sister, Maisie, and only the parents are trained to manage Merryn’s PEG, further complicating childcare. Merryn’s complex medical needs meant her mum had to step away from her role as a Specialist nurse in Bristol children’s hospital, due to Merryn’s care requirements and frequent hospital admissions taking up so much time. However there is some good news in that Merryn has now been accepted at a local nursery after previously being declined a place due to her feeding tube. Merryn’s nursery has been trained to use her Gastrostomy by the community nurse training team &mum has now been offered a nursing Bank position with them. Merryn’s Dad, Martin, works full-time, whilst Mum, Sarah mainly manages Merryn’s care and now works on the nursing Bank. The intense focus on Merryn’s needs has strained the family, but they find support and respite through the James Hopkins Trust, allowing her mother, in particular, some much-needed time to handle life administration and rest.
Merryn’s older sister, Maisie, experienced severe stress and separation anxiety during Merryn’s NICU stay and being only a little older, has found it difficult having a sister that requires so much attention. Despite these challenges, Maisie has developed a close bond with Merryn and expresses a desire to become a nurse or doctor to help other children like her sister which is heartwarming.
Merryn remains under the care of various specialists, including Endocrinologists, Geneticists, Paediatricians, Cardiologists, Feeding Clinic, Dietitians, and Speech and Language therapists.
In summary, Merryn’s medical journey has been complex, requiring fairly constant care and monitoring. Despite the challenges, the family remains dedicated to her well-being, finding moments of relief through the respite that we provide here at the James Hopkins Trust and hoping for continued progress in getting a diagnosis for Merryn to enable them to manage Merryn’s condition effectively.
Mum says, ‘JHT means the world to us. It gives me much needed time & headspace and a little rest whilst I know Merryn is being looked after by such a caring & capable team. I stay local as it’s a bit of a trek going back home so I often catch up with friends over a coffee, chase up appointments, do a food shop- just the usual things that I find tricky to do with 2 small people one of which is fairly constant in her needs. I’m so grateful to be part of the JHT family.’
