Still Waiting

Nolan's micro-array (oligonucleotide array) results should be coming back soon. We don't expect to "find" anything on this test, but there is still some anxiety during the waiting period. I have no idea why I am anxious - the results will likely be ambiguous. A micro-array is only useful when a deletion or duplication is actually found, with known significance. Micro-arrays don't detect point mutations or frameshift mutations (small changes to actual genes): they only detect the addition or removal of chromosomal segments. The chances of Nolan having a deletion or duplication are pretty low.

Anyhow, the possible results (and their ramifications) are:

Normal Microarray: No detected deletions or duplications. This means that we will know nothing more about the cause of the various medical issues. They could still be genetic, but not detectable on this particular test. On the other hand, we will have ruled out a lot of other syndromes. Essentially, we'll be in the same place we are now - watching and waiting to make sure nothing new pops up, and not knowing what to expect.

Variation of Unknown Significance: They may find a deletion or duplication which is not currently catalogued. Like Tigger, "he's the only one!" Some deletions or duplications may be harmless - to determine the likelihood of this scenario, we would be tested alongside Nolan if this situation occurs. If we also carry the deletion or duplication, it is likely harmless (because we don't have the health issues). If we don't carry the deletion or duplication, then it is more likely to be the cause of his issues. The geneticist would have to research all the genes affected in the region of duplication or deletion. This finding is a real gray area.

Known Deletion/Duplication Found: A known, catalogued deletion or duplication is found. If this occurs, then we will have a name and a cause for everything. This is unlikely, because Nolan doesn't have many of the features of known microdeletion syndromes. On the other hand, there is wide variance and there are a LOT of microdeletions/microduplications known to cause multiple health issues.

The geneticist said it would take a week to 2 weeks to get the results back. Tomorrow is the 2 week mark, so every time the phone rings, we are on pins and needles.