A week and a half ago we met with the genetics team in Iowa City to initiate the tests that we hoped would provide us with the cause for Ruth Truth's conditions. 

They told us there was only a 30% chance that they would find an answer (we still know so little about the human genome), and that we could expect results in three to four months, so we were surprised when Ruth's results came in two days ago, only a week later.

That's because they didn't even need to get deep into her genes. Our geneticist must have had a lead she kept to herself since one of the initial tests she ordered with Ruth's blood sample returned with biomarkers indicating a rare genetic disorder.

From the test result we received, Ruth's 7-DHC and 8-DHC plasma levels were diagnostic for Smith-Lemli-Opitz syndrome (SLOS). This diagnosis will be eventually confirmed with another test.

SLOS is a rare genetic disorder with no known cure, and we're still grappling with what it means for Ruth and for our family. It seems that most, if not all, of Ruth’s challenges can find their source in SLOS. 

If you're interested in learning more, here are three sites with helpful information: 

Basically, because of changes in the DHCR7 gene, Ruth's body is unable to make the cholesterol it needs to grow and develop both physically and cognitively. It's important to note that this cholesterol is different from dietary cholesterol.

In utero, SLOS babies have an enzyme defect where cholesterol is unable to be manufactured in the normal way, and their cholesterol level can be very, very, very low. When that happens, all kinds of medical and developmental issues arise. Cholesterol is critically important for some of the genes that lead to normal development of the brain, heart, kidneys, limbs, and genitalia. Praise be to God, all of Ruth’s organs seem to have developed as normal. She just has all of the outward physical manifestations of the disorder.
 
As Ruth ages it will become more apparent that she has a syndrome. People with SLOS are physically smaller (typically two standard deviations less than the average population), have intellectual disabilities, experience sleep disruptions, and may have behavioral issues. All of this, even Ruth's ability to function independently, depends on the severity of Ruth's SLOS.

Those are the short-term problems. The long-term problems result when the precursors (7-DHC and 8-DHC mentioned earlier) build up and eventually turn into toxic oxysterols. These precursors should turn into cholesterol, but because Ruth’s DHCR7 genes don’t work, they oxidize instead. In this case, the oxysterols may cause serious harm to the brain, the back of the eye, liver, and skin. As more time passes and more oxysterols build up, there is more likelihood for damage and disease.

In the most severe cases of SLOS, children don't live past infancy due to organ issues; in moderate cases, an individual may live for ~30 years; in minor cases, a relatively normal lifespan can be expected. We're hopeful Ruth has a minor case.

We knew something like this was a possibility. We expected it. We've been waiting for it. We thought we wanted to know. But I was not prepared for how crushing it would be. Oh, how I have lamented! My friend, Mark Mulnix, shared Steven Curtis Chapman's album Beauty will Rise with me a few weeks ago. Chapman wrote these songs after his daughter died. I listened to it yesterday and wept through the whole thing.

For now, nothing changes. Our care for Ruth stays the same. We still expect her to have two more surgeries yet this year. She’s still going to make progress in her own way. 

Our course for the remainder of the year hasn't shifted; it's just that the curtain pulled over future years has been pulled back a little. Now we have an idea of what kind of trajectory to expect. It's like an extreme form of syllabus shock.

Ruth's instrument may be broken, but we are determined to help her play it the best she can. As the genetic counselor said, “Ruth is still Ruth.” It’s tempting to just see her as her diagnosis, but she is so much more than that. I just need to look at her smile or make her laugh to remember this.

We pray she would be a vessel of mercy to make known the riches of God's glory (Rom. 9:23). We pray that this jar of clay would be filled with treasure (2 Cor. 4:7). That treasure is the light of the knowledge of the glory of God in the face of Jesus Christ (2 Cor. 4:6).

There's still one more thing to say about all of this. SLOS is a genetic disorder, which means that Ruth inherited two non-working DHCR7 genes—one from Lauren and one from me. This means that we're both carriers of a non-working DHCR7 gene. Obviously we have one that works, neither of us have SLOS, but apparently we each have one that doesn't work. Do you see where I'm going with this? If not, grab your Punnett square.

Because Lauren and I both have a working and non-working copy of the DHCR7 gene…

That's heavy, and something more to grieve. Regardless of how we move forward, much faith will be required. We firmly believe in God's providence (purposeful sovereignty) and goodness. He has never failed. He is faithful.

Special thanks to my wonderful wife for fixing my typos and making sure I got the science right. She's an excellent editor.