The decision has been made to move forward with the Whole Exome Sequencing (WES) genetic test. We have waffled back and forth on this one several times. CB had some initial testing done via the CMA (chromosome microarray) and everything came back negative. CB’s pediatrician suggested we move forward with the WES, but the neurologist suggested we don’t mess with it. The geneticist suggested we don’t move forward unless we have something more specific to look for. We felt comfortable with holding off on the genetics testing. This lasted until we heard so much about it at the Apraxia Conference in July. They talked a lot about the FOX2P gene and a deletion within chromosome 7 within the 7q31 region. I then felt compelled to look into it further. Because this is really just starting to get more recognition and more parents are recently doing this type of testing, the information about this gene and several others is somewhat limited. The belief is that this gene mainly impacts language and speech. Since CB has global issues, not just related to speech and language, then we don’t know if he could have this deletion and something else. Or if it would just be something else. While researching this gene, Olem found another gene that could be impacted and would provide an explanation for a whole array of CB’s and HB’s differences. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. CB has issues with his kidneys, ureter, eyes, and CNS. We are not sure about ears. The interesting thing is that HB also has issues with his kidneys, ureter, and eyes. So far, we haven’t seen any issues with his CNS, but the severity and impact of the gene duplications/deletions is variable.
Some of the potential issues/findings are
- Ehlers-Danlos-Syndrome
- skin & joint abnormalities
- kidney and urinary tract abnormalities
- ocular abnormalities
- CNS abnormalities
- Renal coloboma
- sensorineural hearing loss
It is definitely a mixed bag when it comes to genetic testing. You can find out all sorts of information that you may not know what to do with. Additionally, you can find out things that are likely to happen or that have a potential to happen. However, your child may end up with none of the issues that are presented as possibilites. This can cause extra worry that may not be needed. However, we feel that by completing the genetic testing, we will have a better picture as to what is impacting CB. Also, the findings may be useful for getting CB additional help with school.
We will see how this goes, but we are trying to prepare ourselves mentally. We hope to just use the information that is currently relevant and just keep the other information on file but nothing we act upon.