wolfhirschhorn.org

Liam’s wonderful father added this post to his Facebook account.  I thought I would copy and post it here because it was so beautifully written and so heartfelt.  We want to share our story with the world, but it has sometimes been very difficult to do so.  We are so very blessed to have Liam as our child.  He has defined for us the meaning of strength, courage and unconditional love.  I hope you enjoy reading Liam’s journey over the past four years!

Today is Liam’s 4th Birthday and with world rare disease day (Feb. 29th) just having passed I thought it would be timely to share some of our journey…
Sharing this kind of stuff has been hard in the past especially seeing that I only see folks back home in person once in a blue moon, if at all and being a bloke I don’t tend to spend enough time as I should keeping in touch..anyway..

So Melissa’s pregnancy with Liam was eventful to say the least, being classed as high risk. Liam was always very small which caused concern, however when he was born (at a whopping 4 pound 12 ounces), everything seemed fine and we were given the “all clear” essentially. As his first year progressed though, Melissa became increasingly concerned that he wasn’t meeting some milestones as he should have been. Initial tests didn’t reveal anything and it was only a micro array test that led to that phone call that no parent ever wants to receive. Our pediatrician called us with a diagnosis that Liam had “Wolf-Hirschhorn Syndrome and that we should google it to find out about it. The first three or four entries are pretty accurate”. That is how we found out, over the phone and told to google it..needless to say when you google it you are met with all kinds of horrific and frightening information..a traumatic experience to say the least.

WHS affects 1 in 50,000 children born and involves a de-novo genetic mutation (which means it occurs randomly at conception and has nothing to do with the parents) where part of the 4p gene is missing. WHS, like most genetic disorders is a spectrum disorder, some people being affected severely, others with less serious problems depending on exactly where the deletion is and how big it is. Liam’s deletion is literally tiny (hence it could only be found on a micro-array) which may have something to do with why he presents towards the milder/ less affected end of the spectrum. However he does still have serious health issues including small kidneys and impaired kidney function. He is predisposed to suffering from seizures and does have small seizures almost like drop attacks that only last a couple of seconds and self resolve, but these usually only happen when he is really tired or getting sick, so we haven’t needed to medicate him for these. He suffers from really bad reflux (which he is on long term medication for) and is prone to picking up any bugs that are going around as his immune system is compromised somewhat. He also has an extreme oral aversion (mainly to textures) so the bulk of his nutrition is delivered through a G-Tube directly into his belly. (An emergency trip to the hospital was needed just before his second birthday to insert the tube when he basically refused to eat). Since having his G-Tube inserted all of our lives have become a lot more stress free as we can be sure he is getting the nutrition and hydration he needs. Melissa has become a master “pediatric chef” and purees every kind of food imaginable (Including salmon, chicken, beef, kale, sweet potatoe)..Liam has to have the healthiest diet of any toddler I know!

He does eat orally when he is in the mood and as long as the texture is smooth. He LOVES Ice Cream!! No matter what though he is only ever going to be “petite” (in the words of our pediatrician) and currently weighs in at close to 25 pounds I think..

To say that Liam has spent plenty of time at the doctors would be an understatement. Specialists, physiotherapists, speech therapists he has seen them all. He has been poked, prodded and pricked way too much for a kid his age. But he still doesn’t mind going and the last time we saw a new doctor and she asked him what his name was, he proudly replied “Superman!”

Liam has been walking since shortly after his second birthday and never stops talking!  Most people have difficulty understanding what he is saying, but we understand him and that’s all that really counts 🙂

He has the best sense of humour, is very smart, inquisitive (i.e. very nosy!), loves people and being around people and is very loving and affectionate.

We have come a long way since we first learned of Liam’s diagnosis and Liam continues to exceed all of our expectations every day.

He is our pride and joy and we would not change a single thing about him.

If you have not yet been lucky enough to meet Liam, I hope you will one day and now you may know a little bit more about him for when you do.