DOCUMENT

It all started in my third trimester of pregnancy with my son Glenn (now 6). At around 31 weeks the midwife found I was measuring ahead by 3-4 weeks, so I was sent for a scan where they found he presented breech, with excess fluid (polyhydramnios) and dilated ventricles on the head. At 33-weeks I met with an obstetric consultant who went over everything with me and I was told that it was a 5-10% chance it was something chromosomal. I was scheduled to have the birth by elective cesarean on June 2 2015, and was advised they would have pediatricians in the theatre“just in case”. In theatre I was awake, and I didn’t even know he had been born until they made a comment about the placenta, to which I replied,“has he been born?” and they said yes. I caught a quick glimpse of Glenn before he was rushed off to NICU with my husband in tow. The next few days were hazy due to my recovery. I remember our neonatologist being really concerned about Glenn’s lowmuscle tone and that he wasn’t sucking. At 6 days old, Dr Gina O’Grady (Pediatric Neurologist) from Starship came and examined Glenn, and suspected Myotonic Dystrophy due to his low tone, and facial characteristics (including the tented lip) and she arranged for tests to be done. Our lives then changed forever on 16 June 2015 – this was the day we received Glenn’s diagnosis of Congenital Myotonic Dystrophy. I had heard of Muscular Dystrophy, but not Myotonic Dystrophy. You could imagine my shock when I was told that 99% of the time CDM comes from the mother! I was devastated. Quite often this is the case where the mother is unaware, she has Myotonic Dystrophy until she gives birth to an affected child. I had no idea what this meant for Glenn, as they could not tell me anything – milestones or life expectancy and it was recommended that I go online for information. So that night, I googled, and found two helpful websites - MDANZ, and the Myotonic Dystrophy Foundation. We were eventually able to take Glenn home towards the end of June 2015, with an extensive team behind us which included Homecare nurses, Neurodevelopmental therapists, social workers, speech and language therapists, dietitians – you name it we had it. We were referred to Genetic Counselling, where they went through my family history. I was subsequently testedwhich came back positive (after reading the literature I had been given by MDANZ, I wasn’t too surprised), and then my dad also tested positive. My condition has since been confirmed as Adult-Onset Myotonic Dystrophy – Type 1. As a result I suffer from common gastrointestinal issues (irritable bowel syndrome) as well as Hypothyroidism (Hashimoto’s Thyroiditis), and myotonia in my hands. Sometimes I also get random pain in my hands, wrists, knees, ankles, andmy back and shoulders. I’m also more susceptible to chest and sinus infections than other people, however I have been pretty well the last few years. I wear glasses as I have astigmatism in both eyes along with one eye being long sighted, the other short sighted! My body lets me know if I have overdone things physically, but apart from that I manage. Despite the symptoms, my everyday life is busy, and no two days are the same! We originally lived in Auckland, and then moved to Murupara in July 2016 to be closer to family and for a change in lifestyle. We love it here! YOUR CONDITION IN REVIEW Yaz Dolbel-Neville tells us how she was diagnosed with Adult-Onset Myotonic Dystrophy Type 1, and why her support network helps. My son’s diagnosis led me to my own Newborn Glenn. Yaz and her son Glenn.