This post is where I’m going to start our story, because our lives changed the moment that we first heard the words “Smith Lemli Opitz Syndrome.”

My oldest son Mathias was born on July 5th, 2016. 3 days past his due date, and 1 day past the day I wanted him to be born. I had a normal pregnancy and normal ultrasounds, and he was born at a healthy, average birth weight of 7 lbs 13 oz. But it became apparent from day one that something wasn’t quite right (I will write a separate post about our journey towards a diagnosis) and we discovered 8 months later that he has Smith Lemli Opitz Syndrome (SLOS).

Smith Lemli Opitz Syndrome is a mutation of the DHCR7 gene. This gene provides information to an enzyme which is the final step in cholesterol production.

Because of this mutation, Mathias doesn’t produce cholesterol properly. Cholesterol is vital to brain + body development. People affected by SLOS have a wide range of physical and developmental issues.

If you google SLOS you will find examples of the extreme ends of the syndrome which are, quite frankly, described horribly and offensively. You’ll read things like “malformations” “deformities” and “retardations” and your general response will be OMFG. Because it is NOT pretty. And you know what you’re going to be freaked out and sad, if you, like me, googled SLOS to find more information if you found out that you’re a carrier of the mutation or if your child was recently diagnosed.  I’m here to tell you that the things that you read on google are not always, and not usually, the case. As with all syndromes, there is a HUGE spectrum between cases. Mathias is on the mild end of the spectrum. Let me explain in layman’s terms as much as I can.

Some syndromes are caused by an extra or missing copy of a gene (this is the case with Downs Syndrome). If this is a case, your cases are extremely similar. If you bake a cake, and you forget an ingredient, or add an extra one, and every time you make it you do the same thing. So if you make a cake, and add cocoa powder, it will always be a chocolate cake. Downs Syndrome kids are all chocolate cake (because let’s be honest, who doesn’t love chocolate cake? If you don’t, I don’t trust you). But syndromes with a mutation are different, because there are different mutations – the cake recipe changes based on the ingredient substitution. Let’s say that I’m making a cake but I’m not using artificial sweeteners, so I substitute sugar with maple syrup. It still sweetens the cake, but in a different way. Baking is chemistry, so even though sugar and syrup are both sweet, the finished product isn’t quite the same. But what happens if I make that cake and instead of grabbing sugar I accidentally substitute salt? That cake isn’t going to taste right. In the case of mutations, one ingredient is substituted for another and that substitution may or may not be the right fit. Even if it’s an “acceptable” substitution, it won’t make the original recipe. This is the case with SLOS, but because there are so many different mutations of the gene, almost as many as there are people with SLOS, the recipe is always a little different.

For a child to be born with SLOS (or most mutations), one mutated gene must be passed from each parent. So both me and Lucas are carriers – we each have one functioning DHCR7 gene, and one mutated one. If you remember the chapter of genetics in your high school Bio class, you’ll recall that every one of us carries 2 copies of each gene, one from each parent. We both passed our mutated copies to Mathias and ta-da! SLOS baby. In Livia’s case, one of us passed a mutated copy and one passed a healthy copy. Livia is a carrier, like Lucas and myself. But since our mutations are both different, Mathias’ combination is pretty specific to him compared to other people with SLOS.

All people with SLOS share some commonalities: distinctive facial features, small head circumference (microcephaly), some intellectual disabilities + learning and behavioral problems. The neurologists at MGH decided to test Mathias based on his microcephaly, his so-called “failure to thrive” (FTT) and his conjoined second and third toes (a seemingly minor trait shared by 97% of people with SLOS!).

Mathias’ lack of hunger drive, inability to latch at birth, + consequent feeding problems stem from SLOS. The geneticists I’ve spoke to told me that most children with SLOS develop a hunger drive between the ages of 1-3.

He is otherwise in great physical condition, with none of the other physical problems or abnormalities that some others with SLOS have.

As far as his development goes, that remains to be seen. He continues to impress his doctors but he has consistently “failed” the developmental tests done by Early Intervention (with the exception of his social skills, which remain high). He doesn’t eat, he doesn’t speak, he struggles with basic communication and has yet to pick up any sign language. He has impressed me since the birth of his sister in showing empathy and understanding but, then again, Mathias always does well in “social” situations. He could be mainstreamed in school, drive a car, work, live on his own; or he could need special ed, be mostly nonverbal, tube fed and dependent on us for the rest of his life. It’s an unknown for us, but I hope that my sharing can shed some light for others in similar situations.

There are not many of us: 1 in 20,000 children in the US is born with SLOS, and even less are mild because some mild cases go undiagnosed. As one mother told me on Instagram – we’ve won the lottery. Maybe I should gamble more.