Today we have a new abbreviation, CONS. It is short for Cerebro-Oculo-Nasal Syndrome. This disorder has some manifestations suggestive of the Holoprosencephalic spectrum. It is characterized by central nervous system anomalies, and includes HPE in some instances.
What does this mean? It means that Abby actually had another, apparently more rare neurological disorder, which has many of the same characteristics as Holoprosencephaly, however it is different. Two of the major physical clues to this were the shape of Abby’s head and the wide placement of her eye sockets, and absent eyes.
Go figure- we found an even MORE rare condition, with even less research available than HPE. I have so far been unable to find any evidence of any prenatal diagnosis of this disorder, and most of the research appears to come out of Brazil
This may seem weird, but I’m sad that Abby didn’t have HPE as we thought. Or, maybe she did have HPE along with the CONS? Honestly, I don’t know and it doesn’t really matter since she’s no longer with us. However, I’m glad that her prenatal diagnosis was HPE and not something else. I would never have found Families for HoPE, and would never have been prepared for her arrival. Regardless of the specifics of her condition, she was a child who had a neurological condition. The condition manifested itself in many physical abnormalities that we had to prepare for, and there was a great likelihood that her time on Earth would be short. It would have been a horribly lonely and HoPEless 5 months from the time she was diagnosed until now if we didn’t have the HoPE community. Thank you for including us, as we so clearly needed you J
The good news is, as we thought, nothing was found that suggests that Matt or I are carriers of the few genes that would make this a reoccurrence in future pregnancies. As Dr. Abuelo put it, “Abby’s condition was like being struck by lightening”. So, we can try to get pregnant again when we’re ready, and Connor doesn’t have to worry about passing anything along to our future grandchildren.
I thought I’d feel happier after getting this news; perhaps thought I would find some closure and comfort in the genetic testing and “go ahead” for future children. But I really don’t. No matter how much information you have, or how great you find out your own genes are, losing your child still f’ing sucks. Sorry, I know that isn't terribly inspirational, but it's true.
