April 28, 2020 3 min read
"We found out Nico had some abnormalities of the urinary system in utero. We had a high chance of needing surgery in utero too, to place a stent in his bladder, so we did an amniocentesis as a first step to prepare for it. But it came back normal.
We still expected his urinary system to be affected at birth, but nothing prepared us for this rare disease journey.
Immediately after he was born, a genetic nature to his condition was suspected; as so many of his systems were found to be affected. But we would live in and out of the hospital for months before getting a diagnosis.
We did the first round of genetic testing within the first two weeks of his life, but it came back normal. Genetics is such a vast field that unless you know what you’re looking for, it can be extremely hard to find. It wasn’t until we did a whole genome sequencing test that a mutation was found in the ATN1 gene. At the time, he was the 8th case in the World! There are now 11 known cases and his syndrome is now officially named CHEDDA." - @finding_our_rainbows
Thank you so much for sharing that with us, María. What an amazing journey you've been on, indeed. Wow! That is so fascinating that he is 1/11 known cases worldwide. Tell me, what truly amazes you about Nico?
"What amazes me about Nico every day, is that he has such a pure and joyful smile in spite of everything he has been through and all his daily struggles. He has such a way to remind you just how beautiful life really is."
I can see how he would. Tell me about Nico more - what does he like? Can you describe his personality to us?
"Nico has the most charming smile. He also has a fiery little personality. He’s very chatty and not afraid to tell you what he thinks! He also makes the sweetest sounds to put himself to sleep too. (I would say) that even though he may be “non-verbal” - he gets his point across easily in his own way. He loves music, likes his own space and (I would say) he’s kind of a night owl...he’s definitely not a morning person!"
Well Nico and I have that in common, 100%! I'm definitley more of a night owl and not a morning person at all. Just ask my husband, lol. Tell me, how do you describe your life and label of being a "special needs parent."
"Many things about parenting for us is different (compared to most). Some of those basic needs like food for example, look nothing like typical parenting. We parent from a medical aspect whether we want to or not, because our child is medically fragile. Our night routines are filled with medical needs. Our activities of daily living have included therapies and doctors appointments from the moment he was born. But parenting a special needs child changes your perspective on life. Everything is sweeter in a way, and amongst the chaos we find the most simple joys in our life."
I love that María, thank you for sharing. Do you have any advice for new parents that have joined our club recently? Is there anything you'd want to share with them in hopes that you can ease their minds and give them hope?
"Some days will be hard, so hard...but you will make it through. Try to find one thing that makes you smile; even on the hardest of days. And on those good days, take pictures and write notes in your phone about it; to help you get through the next hard one. Don’t forget to talk about your feelings either...don’t let them build up. Find your people, reach out and connect to those who are on similar journeys."
That is really good advice, María! I might have to start doing that myself. In fact, for those out there reading right now, our genetics counselor actually introduced María and I to one another! Despite our children having different diagnosis (my daughter Ava has Williams Syndrome), she thought we'd enjoy connecting as "rare mamas." The only thing, is that we didn't get to meet each other in person yet... I can't wait for the day when it's safe to do so and the Coronavirus is hopefully well behind us! Thanks so much for taking the time to talk with me today, María. Nico is so lucky to have you and your husband on his team!
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