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 two years. Now, at age two, she weighs just 7kg and has never made it onto a centile for her weight, Merryn’s conditions have stumped her Paediatrician, Endocrinologist, and Geneticist and as a result, her condition is currently undiagnosed. She was born with a genetic mutation, ABCC8, responsible for her neonatal diabetes, low birth weight, and slow weight gain. Since around six months old, Merryn has been suspected of having Noonan syndrome due to her clinical signs. Despite numerous blood tests, an official diagnosis has yet to be confirmed, though it is considered likely, and ongoing tests continue.
In the NICU and for the first few months, Merryn required insulin and hourly blood sugar monitoring. 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.
Merryn’s heart conditions 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. Merryn has since transitioned to a percutaneous endoscopic gastrostomy (PEG) for feeding.
During a recent 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.
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. There are concerns that she may have a metabolic or genetic condition affecting her ability to absorb nutrients. Managing Merryn’s weight and feeding has become a full-time job, with regular weight monitoring and constant adjustments to her diet and medication.
Merryn has also struggled with chronic constipation and impaction, due to insufficient fluid intake, meaning she requires water boluses between milk feeds and medications. The first 18 months were marked by frequent vomiting, partly due to reflux and a cow’s milk protein allergy, though this has improved somewhat.
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 have prevented her mother from returning to work as a Paediatric nurse, as her care requirements and frequent hospital admissions take up so much time. The local nursery has declined to accept Merryn due to her tube feeding, which the family is contesting, as they believe nursery attendance would benefit her socialization and development. This would also enable her mother to return to work part-time, alleviating some of financial strain they have experienced since Merryn’s birth.
Maisie, Merryn’s older sister, experienced stress and regression 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 clinics, Dietitians, and Speech and Language therapists. Martin works full-time, while Merryn’s mother manages her care and occasionally works as an agency nurse. 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.
In summary, Merryn’s medical journey has been complex, requiring 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. Despite Merryn’s condition currently being undiagnosed, her family are hoping for continued progress in getting a diagnosis for Merryn to enable them to manage Merryn’s condition effectively.