Age of parents:
Age: 20 months
Is this your only child?
Yes, 2 other children
Diagnosis of child:
Smith Lemli Opitz Syndrome
Getting a diagnosis changed our life. While on the one hand it validated our feeding struggles since most infants with SLOS are born without a hunger drive, it was also the end of any hope of a “normal” life. I remember walking out of the neurologist’s office after his diagnosis struggling to hold back tears and sobbed the whole drive home.
What are the biggest challenges facing your child on a daily basis?
We struggled with Mathew from the day he was born because he lost weight very quickly, didn’t seem to be hungry, and couldn’t latch. It took eight months of GI appointments but eventually he was tested Smith Lemli Opitz Syndrome (SLOS), a rare genetic disorder caused by a mutation of the DHCR7 gene in the chain that produces cholesterol.
What are the happiest moments you have with your child on a daily basis?
He is the most affectionate person I’ve ever met! He loves hugs and kisses. Sometimes he has a hard time with strangers, and other times he will kiss random people’s legs when we’re out of the house … he’s really got the sweetest disposition, and he loves cuddles!
Are you married? Married.
Has your special needs child had an effect on your marriage?
A sense of humour is vital and it has kept us sane and connected through some stressful times.
Are your family and friends supportive?
Making friends with people who have special needs kids made a world of difference for me, and they were more helpful than doctors or Google. Also, learning to accept that you can’t do everything and to say yes when people offer help is so important!
What has your child taught you about yourself, both positively and negatively?
Patience. Having patience is probably the most challenging thing, both with Mathew and with myself. Mathew has always had obsessive compulsive tendencies and one of the compulsions usually has to do with making noise - right now his compulsion is to bang on everything like a drum. Hearing him banging on the washing machine or taking a toy metal pan and banging it on the tile can drive me nuts. And it’s pretty constant, it happens a LOT.
What is your dream for your child?
Now that we have got his health issues better under control, I hope he can get on with being a boy, playing, having some carefree fun times!