Well, when I first went to my doctor and told her I wanted to have a baby she told me it would take a while, because I’ve been on pills forever and because of my age – yes, if you’re over 35 you’re considered “of age” … yes, I rolled my eyes too …
But, she also said that I should think about a few tests that you can do before you start trying to conceive and have them done once I got all my shots, yearly lab work, etc.
I got pregnant that month – meaning I did not do any test beforehand, nor took any shots …
When I went to her office after my first scary shit episode, she presented me the Horizon Carrier Screening Test – that looks at your genes to see if you’re a carrier for up to 274 autosomal-recessive and X-linked genetic conditions
274 genetic conditions !
Holly s****!
To make things better, she also told me that it’d be totally normal to be a carrier for 1 or 2 conditions – that would only matter if my husband was a carrier as well, as in that case we’d have a risk of passing on a genetic condition to our baby
Ok, it’s better to know and be prepared, right?
The test is kind of expensive, so we – myself and my husband – agreed that I’d do it, and if there were any “bad” conditions, he’d do it.
The process is super simple, but the wait is kind of long … 2 weeks.
Went home, spit in the tube and mailed it – boom, done!
2 weeks after … scary shit came back
I am a carrier for Sickle Cell Disease and Usher Syndrome.
I immediately googled them, of course … just to make it even scarier
To sum up, in lay terms, the Sickle Cell Disease will make my baby have abnormal hemoglobin, the severity of the disease varies widely from person to person and is a lifelong illness; the Usher Syndrome impacts both hearing and vision – and type 1B (my type) is severe : children with type 1 Usher syndrome are profoundly deaf at birth and have severe balance problems, and are usually completely blind by age 10.
My heart sank.
We discussed how the results would impact or not my pregnancy – and decided to test my husband and find out if he was a carrier as well; because we believed that it’d be better to be prepared for any special needs my baby could have in the future.
2 V E R Y L O N G W E E K S
Turned out he’s a carrier for 2 other conditions, but not the same as mine – so yes, huge sigh of relief here!
I’d encourage you to do it – if you do find out your baby has any condition, you can prepare not only yourself emotionally, but your family and your house to welcome your little one, you’d have time to read and research about it, connect with families that go through the same challenges, etc.
If interested, I’d begin reading about it here, and talking to your doctor!
