This is our little Warrior Raphael who has a rare undiagnosed genetic disorder. This page will provide updates of Raph and his fight against all his medical battles. Raphael Jeremiah Nadong's Story
My pregnancy wasn’t complicated but it was stressful and there was always something a bit off every time I went in for an Ultra Sound. The specialist just couldn’t put their finger on it and simply said, ‘your boy is a mystery’. Little did we know how true this sentence would be after Raph’s birth. At 9 weeks I was experiencing cramping and some spotting. During the Ultra Sound, we were told our baby had fluid build up behind his neck and diagnosed him with a Cystic Hygroma (CH). CH can be a marker for particular syndromes that are fatal so I was advised to get the Non Invasive Pre-Natal Test (NIPT) done also known as the Harmony Test. The NIPT is used to look for the likelihood of having a baby with the common genetic conditions such as Down Syndrome, Edward’s Syndrome & Patau’s Syndrome. The test came back negative but positive we were having a little boy. At my routine 20 weeks’ scan, there were issues with my baby’s heart particularly the structure of his pulmonary artery so I was referred to a Paediatric Cardiologist for further heart scans. There was some thickness in our baby’s ventricles and the structure of his pulmonary artery was abnormal but not concerning so was asked to come back in another 5 weeks. After the second check, the ventricles were within normal size and the Paediatric Cardiologist was happy with the overall picture. However, baby was measuring small and I had quite a bit of amniotic fluid. This alerted my OB for me to be monitored every week and so the exhausting late night CTG and Growth scan commenced from 25 weeks. Raph was always measuring small but once he fell below the 1st Centile, it was decided he needed to come out and would be born at 35 + 4 weeks via C-Section on the 16th of May 2016 at St John of God Private Hospital. I can remember Raph’s birthday so clearly, something I will never forget. When Raph came out, he only let out a very soft weak cry and my OB held him up high for a split second right before he was whisked away by the Paediatrician and team of nurses. They were taking forever with him on the neonatal bed. Eugene and I were clueless as to why they were taking so long. I just wanted to meet my baby and hold him. Finally, the Paediatrician came to us and told us that our baby had stopped breathing for around 10 minutes and they were working hard to revive him. They managed to get him to breath but were concerned and needed to bring him to the nursery for monitoring. I told Eugene to stay with our baby because I didn’t want him to be alone. We all thought everything was going to be okay, but when a code blue was called in the nursery I knew straight away that had to be Raph. The Paediatrician came in to tell me that it was indeed Raph and that he had stopped breathing again this time for 12 minutes. He was very concerned so he made the decision to transfer him to the Neonatal Intensive Care Unit (NICU) at Monash Health. I was so heartbroken knowing I would be separated from my baby. My nurses were amazing though and helped me get on a wheelchair (even though it was not advised after having a C-section) and wheeled me to see Raph before he would be transferred away. After 8 hours I finally got to see my baby! He was so small but pink all over and was sucking on a little dummy. At the same time, I was gathering all my strength to stay awake because I was so out of it from all the drugs. He was the cutest little thing I had ever seen and fell in love with him straight away. I was so lucky my OB worked his magic and managed to get me a bed at Jessie McPherson Private Hospital which is located inside Monash Health. This would mean I would be close to my baby! After Raph was transferred via Ambulance, I too got transferred a few hours later. That night, we would begin our 5 month’s NICU journey which is another long story on it’s own. We would also come to find out that Raph had a cluster of defects which were not noticed at St John of God. Just to name a few, Raph has the following:
- PDA & ASD of the heart (PDA closed at 3 months of age)
- Heart murmur
- Cleft palate (repaired in July 2017)
- Contracted fingers
- Hypertonic Muscle tone
- Abnormal rigid movements
- Infantile Spasms
- Myoclonic Seizures
- Global Developmental delay
- Severe hearing loss
- Single transverse palmer crease on both hands
- Continuous home oxygen
- Apnoeic episodes where he stops breathing and turns blue during wake times
- G-tube fed via the belly due to dangerous swallowing
- Most recently, Pulmonary Hypertension
- Left to right shunt of the heart
- Undiagnosed lung disease
We have had extensive Genetic testing done which has all come back normal. Raph was even part of an Exome Sequencing Study which also came back normal. To this day Raph remains undiagnosed but is presumed to have a rare genetic condition which has caused all these issues. A pure mystery believed to be a change in him and not inherited from Eugene or myself. The not knowing is probably the hardest for me especially moments when I start to think about what Raph’s future may hold. Eugene and I has since become Raph’s Doctor, Nurse, Physiotherapist, occupational Therapist, Speech Therapist and the list goes on, on top of just being his average Mum and Dad. The last 15 months has been a crazy roller coaster ride for my family and myself. It is extremely heartbreaking having to watch your baby go through so much pain and I wish I could take it all away. Living each day as it comes and appreciating all the little things has been the only way I have been able to get through it. Along with the strong support network from Eugene, my family and friends. One particular verse I hold dear to my heart and gives me hope is
Jeremiah 29:11 – For I know the plans I have for you,” declares the Lord, “plans to prosper you and not to harm you, plans to give you hope and a future. We have been told time and time again that Raph will not live a long and normal life however, Raph is a strong fighter and always recovers from all his medical battles. One thing for sure is I will do everything in my power to ensure he has the best quality of life and I will help him reach his full potential.
