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.
My son.
Who is nearly 10 years old.
I wouldn't have him any other way.


Brothers.
Where to next?


With his cousins.

My Ryley. 











Comments

  1. So bloody well said Anna... Great post.. WHS Does not define who our kids are... They define themselves... Into some pretty awesome human beings. xxx

    ReplyDelete
    Replies
    1. Thanks Mel! Our kids are awesome human beings!

      Delete
  2. Beautifully written Anna. All the children we met in November at Ballarat were amazing. All very different personalities and all very special people. I might add they are all supported by pretty special families......

    ReplyDelete
    Replies
    1. Thanks Suzanne. All the WHS kids we know are amazing. And you're right, so are the families!

      Delete
  3. Absolutely, precious...I thought that society was beyond the assumption that children and adults with disabilities and somewhat less than perfect, somewhat less than equal....the events of the past days have simply fortified my belief that we need to fight harder to continue the message that you write about well,,,blessings!

    ReplyDelete
    Replies
    1. Sadly I don't think society has moved much at all. But we will keep fighting. Some of us have pretty loud voices too!!

      Delete
  4. Love it! Well said! Thanks for writing this. Sending you and yours love.

    ReplyDelete
    Replies
    1. Thanks Hilary. Sending you guys lots of love right now xo

      Delete
  5. Beautifully written, Anna - thanks for sharing your experiences and blowing a lot of the 'popular', outdated WHS myths out of the water. As a parent of a 1 yr old girl, Mia, who has WHS this whole article chimes with me, as I'm sure it does for so many others.

    ReplyDelete
  6. Love the pictures of your sweet boy. My son, Nathaniel is 19 months old and I haven't realized how different he is until the past few months. My 7 month old niece is sitting up on her own, my friends 9 month old daughter is crawling and pulling herself up while Nathaniel is still rolling around on the ground. I know that I shouldn't compare him to any other child.....even one with WHS, but I still worry and wonder if he'll ever walk. I've always had a positive attitude when it comes to him, but I still do wonder. I know that the Lord never would have given my anything I can't handle. I usually post stories and updates on wolfhirschhorn.org and I came across this website just looking for new information and i am so glad I did. Good luck to you and your family.....Letty

    ReplyDelete

Post a Comment

Agree? Disagree? Love to hear your thoughts! Thanks for stopping by!

Popular posts from this blog

The Dream

Is being strong, enough? Part 1