Yesterday was an interesting and exhausting day. As you may remember, we were not able to get whole genome sequencing approved through our insurance company for all five of us. What we were able to get approved was a “Quint Analysis,” which meant that Ava was going to be the focus of the sequencing. We were all sequenced. Ava’s results were analyzed first. When they found three primary variants in Ava, then they tested the rest of us to see if we had the variants. We did not look at secondary variants or for carrier genes with Ava.

We found three primary variants of interest.

DBH (Ava, Oskar, Gina shared this variant)

Associated diseases: dopamine beta-hydroxylase deficiency

NAGA (Ava, Oskar, Gina shared this variant)

Associated disease: Schindler disease, type I Schindler disease, type III and Kanzaki disease

SPG11 (Ava, Oskar, Lucy, Justin shared this variant)

Associated with spastic paraplegia 11, autosomal recessive

None of the variants are paired with another variant in the same gene. (It’s not necessary that this be the case to cause a problem, but it makes it easy to say, “Yes, that it” when it happens.) What we do not know is about the potential interplay between these variants. It could be that individually, being a carrier on one is not problematic, but together, it could lead to diminished function.

The good news is that there are functional tests for all three variants that may help to interpret the results. If testing suggests a disease state, then we will want to consider deletion/duplication analysis or whole genome sequencing to identify the second mutations.

What I am disappointed in is that we did not analyze Oskar and Lucy individually. They may have other variants that are different from Ava. We need to treat all three children equally. Since we know that there are a constellation of symptoms between all three children, it makes sense to us to look more closely at the younger two. As of now, Oskar and Lucy’s exome will be analyzed in the research setting. We also went ahead and signed the paperwork for all five of us to have our whole genome sequenced in the research setting if needed.

I think it makes sense to push on the insurance company to have the younger two children’s exome analyzed in the clinical setting. There is enough support for each child to have their exome analyzed individually. If our functional tests come back negative, I would also love to push on our insurance company to approve the whole genome sequencing for our family.

Due to my new onset of health issues, they are going to analyze my exome sequencing data. We are going to push for this to be covered through our insurance company in the clinical setting. I have asked to know the primary gene variants, the secondary gene variants as well as my carrier genes.

I was hoping to go to the meeting in Wisconsin and have solid answers for my children and our family. I was hoping that we were going to take a step out of the diagnostic odyssey and step into the next stage, treatment. However, that is not what happened yesterday. We were told that this was “a new first step” in our journey for answers. They are an amazing group in Wisconsin.They are like family to us. They will share the information with other groups. We can get the hard drive. This is huge!  Their focus is in the children. They want to help our three children. They want to help me. We truly feel blessed to be a part of their group.

I couldn’t even talk or type after the meeting yesterday. I needed time to process it. Again, I find myself learning new words that I can barely pronounce. As a parent, I will learn the new words and I will do as much research as I can to help keep up with this process. It is the role of a parent to keep pushing for answers. It is the role of a parent to not give up. I will not give up. I owe it to Ava, Oskar and Lucy to find out as much as humanly possible.

I love you Ava, Oskar and Lucy. I will never give up. I promise.