#Prader-Willi Syndrome (PWS) is a genetic disorder that is often misdiagnosed.
Meet Jody, he was diagnosed with #PWS just before his second birthday, & this is his mom’s story:
I can actually still feel the butterflies in my stomach as emotions of nervousness, anxiousness and pure excitement overcame me on the eve of the 27th August when I was induced to go into labor. Little did we know what was lying ahead in the next couple of hours…I clearly remember the moment he was born….emotions overcame me as I was about to hear my baby boy cry for the first time and finally get to meet our bundle of joy – but no sound came. All I could see was my pale faced baby being rushed over to a corner in the room to resuscitate him. He was then rushed off to Neonatal ICU, which was then to be his home for the first month of his life. The doctor later explained that he had come down the birth canal so fast that he basically bungee-jumped down my womb at the last minute with such a great force that the cord had snapped.
Once I was back in my room the Neonatal specialist explained that Baby Jody was in a bit of trouble but they were doing everything they could to stabilize him. At that moment, everything seemed so surreal, like I was watching a movie of someone else, yet I could feel every inch of pain. We were told that he had a loss of oxygen to the brain and chances were high that he could have sustained some brain damage but a series of tests had to be conducted. The worst part was that we could not see him that day, hold him or welcome him into our family as any new parent would want to do. They did not want to risk him getting any infections.
We were able to meet our baby for the first time on Day 2 but only for a little while as they did not want him to be stimulated in any way. His brain was basically “put to sleep” and they wanted to slowly bring him out of it to prevent convulsions. What greeted me was not your usual newborn baby but instead a baby with pipes all over and needles in his head. Those first couple of days he went through so many tests as they could not determine at that stage exactly what his diagnosis was as he was a bit of a challenge / complicated case.
During his tests (MRI scans, ear tests, eye tests, constant blood tests – finding his veins was a nightmare on it’s own), they discovered that he had dislocatable hips and he needed to wear a pelvic harness for 3 months to ensure that his hips would grow correctly. This meant regular visits to an Orthopedic Surgeon to determine if he would need to be operated on if the pelvic bones did not grow correctly. (thankfully surgery was not needed)I felt so sorry for him, because in less than a month on earth he had gone through so much. The next hurdle was to take him off the drips to start teaching him to feed (breastfeeding, bottle feeding, cup feeding). What a challenge the feeding was but he overcame this hurdle. Physio sessions were started as he was quite floppy. They did tests for neuro muscular diseases and were basically scraping at the bottom of the barrel for some answers. We were told he would never be able to run around normally like his older sister but we, together with our amazing families and friends did not give up hope and continued to pray and have faith. We were encouraged to talk to him, sing to him, hold him and we did this but most of all we prayed for him.
When Jody was about a year old, he was we were referred to the Neuro Paediatric group at Red Cross for further assessment. Professor Wilmshurst and her team initially identified PWS as a possibility….his almond eyes, floppiness, birth story, etc. but needed to run some tests to rule out anything else. After a series of genetic tests conducted again, one of the first blood test that was done, came back negative. He underwent bone scans on the hand to determine his bone age. He then had to undergo a #MuscleBiopsy removing a small piece of his muscle to determine if there was anything related to a muscular disease (due to his floppiness) and during the same surgery his testes had to be brought down as they were underdeveloped. He was finally diagnosed with PWS just before his second birthday in 2016 after the second test came back positive.
Shortly after he was diagnosed, we were referred to the Endo Clinic, had to consult a dietician, 2 x sleep studies were conducted and we are at the point now where he needs to have his adenoids and tonsils removed before growth hormone therapy can start. Coupled with this, he needs to start with OT and Speech Therapy as we have just been to the Developmental Clinic recently and there is a bit of delay in some areas.
It has been a roller coaster journey thus far – We are at constant crossroads where we question – are we doing the correct things / making the correct choices which will affect the rest of his life. It is tough and I salute all parents who have children with PWS. But then I look around and see that there are so many out there who are worse off…so we can only thank God for favoring us as parents with such joyful and blessed children…it makes us stronger and it makes me think we are chosen to educate others and make people aware of rare diseases such as #PWS, we need to be their voices so they are not stigmatized by society, we are the proven case studies that professionals can use to enhance medicine and make treatment options more affordable to everyone. Jody astounds us daily with his progress. He became stronger and stronger and it was evident from Day 1 that this was no ordinary boy – he was an angel sent from above. When he smiles, his face lights up and at such a young age, he has become such a charmer with everyone he comes into contact with.
Thanks to Joy for sharing her story with us.
It is quite common in SA for a delay in the diagnoses as a result of the child needing two tests. In Jody’s case the second test was conducted fairly soon after the first but many of us did not have that experience. Although many doctors suspect that the child may have PWS they do a blood test called the FISH test which only picks up 70% of the cases. This test will identify if a child has PWS as a result of a microdeletion on the father’s 15th chromosome. A microdeletion is a loss of part of the gene which would have occurred randomly during the time of conception. There is another test which I think is more costly and possibly not as well known about by many of the doctors and that is the #Methylation test. This test picks up 100% of the cases. I don’t know why the methylation test isn’t immediately conducted after the FISH test fails in many of the cases but often months or even years go by before a family realise that another test can be conducted. The other 30% of cases are made up of UPD 25% which is (2 chromosones 15 from mom), imprinting defect 5% (error in the father’s inherited chromosome 15 regulating the imprinting process) and Chromosome translocations involving the PWS region makes up 1%.