Wolf-Hirschhorn Syndrome-Some FACTS
- Kids DO NOT usually die by the age of 2 years old. Yes, it can happen, but that is rare now. Most kids/adults with the syndrome live for well into their 30's, 40's and there is a lady in the US who is 62 years old. She is actually one of the first patients ever diagnosed.
- It is a chromosomal disorder which effects the short arm of chromosome 4. It is not caused by drugs, alcohol or poor eating throughout a pregnancy. It is not caused by poor parenting. For 80% of cases, it is something that has occurred spontaneously at conception and is not likely to happen ever again. In the remaining 20% of cases, one of the parents will have something called a balanced translocation. Without going into the genetics too much, it basically means that the parent has passed on the faulty gene at conception. This happened in our case. Something I had no idea of when I conceived Ryley.
- Seizures-85% of all children will have some sort of seizure activity. Most grow out of their seizures by the age of 10. Some have a more complex seizure disorder as well. This is the case for Ryley, which is why he still has seizures every day. Most people don't realise he has seizures every day because he has learnt to adapt and protect himself.
- Slow growth- Usually mistaken for Failure to Thrive. Kids with WHS simply grow slowly. Ryley was always a tiny tiny kid. When he commenced the Ketogenic Diet to control his seizures and got a PEG feeding tube he gained weight very rapidly for a child with WHS. This is still nothing like a neurotypical child.
- Heart, kidney, eye (and other organ) defects. These can occur in some children. Ryley has 6 monthly ECG's to monitor his heart as well as a kidney ultrasound. This is only because he is part of a longitudinal study of the Ketogenic Diet. No other reason. Ryley is blind in his right eye. It is the least of his problems.
- Intellectual Disability/Development Delay. Most children/adults with the syndrome at some point will have a diagnosis of ID/DD (whatever you want to call it...just not mental retardation please). It is an interesting term. Usually used to get access to better therapy services, specialised school settings or adult programs or support funding. It is measured by having the child/adult complete a standard IQ test which is verbally based and not adapted to people who can't use verbal language. Ryley was termed 'unmeasurable' when it was time for his IQ test. He therefore apparently has no IQ. I beg to differ.
- Some children/adults can talk. If they can't talk they usually find a way of communicating their needs. Ryley lost the few words he had at an early age when the seizures commenced. He has only gotten 2 words back: Mum and Yeah. We don't expect him to ever use verbal language again. But he has developed his own system of communicating.
- Some children/adults can walk. We were told Ryley would never walk by an ill-informed medical professional. He started walking at age 7. Many children and adults with WHS do achieve walking, whether it is with a supportive aide or not. It may take them until they are 18, but most will achieve it.
- Children and adults with WHS command a presence like non other. They are social, happy beings who love to be around people. To smile, laugh, express their joy at life. Ryley's number one motivator is people. He craves human beings. He reaches out to them, and implores them to meet his gaze. He is often described by teachers at his school as being one of the most popular kids. He has many many friends.
I have written this post in response to some of the utter rubbish I have found floating around the internet. I know many people around the world are keen to learn more about Wolf-Hirschhorn Syndrome and this is a wonderful thing! I am really pleased that people are seeking to learn more.
The reality is that most of the information that is out there is outdated.
It simply doesn't reflect the beauty of our children.
We had the pleasure of hearing from and speaking with Dr John Carey in November last year. He is considered to be one of the world experts on the syndrome. Search for articles written by him if you want accurate medical information.
I am proud of Ryley.
The syndrome doesn't make him who he is.
The medical complexities don't make him who he is.
He is Ryley.
Who is nearly 10 years old.
I wouldn't have him any other way.
|Where to next?|
|With his cousins.|