I'm so bad at blogs. I start them, and then never write on them so eventually they get deleted..like the one where I wanted to do a weekly post about my pregnancy...ha! I posted once and that was it.
This blog... this will be different. This will be all about my son, and the rare disease he has called cerebellar agenesis. There is not much known about this disease as there are not many reported cases. In starting this blog hopefully I can share what I've learned with others as I learn them.
I guess I should tell about myself and my family. I'm married to a wonderful supportive man (B) and we share a home with our two dogs. We are anticipating the arrival of little Chase, now in more ways than you can imagine. As of today I am 23 weeks and 3 days pregnant. For three weeks we though Chase was a healthy baby girl that we would name Shelby...July 5th, that all changed with a roller coaster of information and emotion.
The following is what my husband and I recently posted to our Facebook to share our news with family and friends. Hopefully, this will explain some things a bit better, but again, this is all we know...
So where do I start? I guess we could start by telling you that halfway through our 3rd anatomy scan on Tuesday, we found out that Shelby will really be Chase since our baby is not a girl, it’s a boy.
But that’s the least of our problems. We also found out that Chase does not have a cerebellum, which is part of the brain, and for this to happen is extremely rare. This disorder is known as cerebellum agenesis. It is so rare in fact, that there is not much documentation about it so we won’t know what his outcome will be. We are now seeing a high risk obstetrician and have been in contact with a neonatologist. Reports that we, and the Doctors we have talked to over the past couple of days, have found, vary from person to person. There was only one case found so far that this was found before the baby was born, but the outcome is unknown. The other limited cases reported, it was found later in the person’s life and varies from small minor delays, to sever major delays. Information is very conflicting on what we find online as some of what is reported is not what our Doctors feel is necessarily true in our case and they don’t agree with what is written.
Since finding out Tuesday, we’ve had another ultrasound (this is the 7th ultrasound during this pregnancy) and a fetal MRI, which will be read by a leading expert in this field. We also had an amniocentesis done, which is a test for chromosomal abnormalities. The preliminary came back normal.
We will update more about Chase as we find out, but again, please keep in mind that this disorder is so rare that what you may find while researching may not be the exact case. Even the Doctors we talked to were quite surprised by what they found, as they anticipated a much worse outcome, due to other diseases with similar characteristics.
B has made contact with two people, a woman whose son has this and a man who has this, to hopefully share their experiences with us.
We want to apologize for not talking to anyone over the last few days, as you can see, it has been a roller coaster of information and emotion. Feel free to write to us, but please don’t be offended if our answers are delayed.
My goals in starting this blog are to find others with this disease and to hopefully be a resource to others through my experiences.
-E
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