Mom, Kristy shares with us all about Ebony.
How did you choose the name Ebony?
We had a list of names that we liked but we couldn’t decide so we waited until she was born to see what name suited her character.
Three words that describe Ebony:
Adventurous, curious, cute
How and when was Ebony diagnosed with BBSOAS?
She was diagnosed in late 2018 after a long battle with the doctors. We new that something was wrong from when she was first born. She was born with severe hip dysplasia, Oromotor dysfunction and hypotonia. Ebony was in a full harness for six months then double nappies for nine months after that. Ebony couldn’t breast feed at all so we had to go for bottle fed from birth. She was always very floppy as well. She had her first tonic colonic seizure at twelve months old in which she stopped breathing and I had to perform CPR on her until she started breathing on her own again. Very scary but glad that I knew how and what to do. We pushed and pushed the doctors and paediatricians both public and private because we new that there was an issue here and we wanted answers so we could give Ebony the best chance of a good life. The paeds finally come up with doing a genetics test. We had to wait for about four months for the results. In late December Ebony had another seizure which resulted in another hospital visit and over night stay and that was when we found out the results. We were dealt a double blow that day as we found out that not only Ebony had this syndrome but Kristy also had this syndrome as well for her whole entire life without knowing what it was. We were happy to finally find out what is was because we could finally start giving Ebony the best care but at the same time absolutely terrified because it is such an unknown syndrome with lots of ailments.
Does she have any siblings?
Ebony has an older brother named Robert and he is seven years old. He is the best big brother anyone could ask for. Always protecting and loving his little sister. He understands what she wants better than us some times. He has since been tested and the result come back with no deletion or mutations which was good.
What are Ebony’s favorite things to do?
Ebony loves to look at picture books and rip the pages out, She loves playing with matchbox cars and she loves playing doctors and most of all she loves to watch her Ipad.
If eating solid foods, what are her favorite things to eat?
Ebony loves to eat everything she can find in the fridge and cupboard. She loves fruit the most. We thought we were going to have a real issue with her having oromotor dysfunction(the inability to swallow properly and chew for long periods of time), but she has proven us wrong. Now we have to do our best to stop her from eating too much as she will graze all day if you let her. When she gets sick is when we worry. If Ebony is to tired due to being sick she won’t eat at all.
What are Ebony’s strengths?
She is head strong, kind, loving and cute.
What has she taught you?
Ebony has taught us Patience as we always need to be with her all the times. She has taught us to be alert at all times, as at any point in time she could be getting into something she shouldn’t be into or doing something dangerous because she has no understanding of fear. Above all Ebony has taught us to love and except people more from all walks of life.
What are the most challenging and rewarding aspects of raising a child with BBSOAS?
The most challenging aspects of looking after a child with BBSOAS are, you have to watch them 24/7 due to them having so many issues. For example with Ebony she has learnt to open doors now so if you leave the door unlocked and you take your eye off her for one second, She will be out the door and down the road before you know it and she wont come back if you call. If you forget to lock the cupboard Ebony will get into whatever is in the cupboard and that could be dangerous. When we are out for a walk we have to hold on to her hand because if we don’t she will run out onto the road and she won’t stop if you scream at her. She can and does have seizures at any time day or night without notice. she has a habit of licking everything no matter what it is and when she hurts her self, if you don’t see her do it you don’t know that she has hurt her self until you see the blood, scratch, bruise burn or cut as she doesn’t scream or cry when it happens.
It is rewarding when Ebony just surprises you by saying something that she has never been able to say before or doing something that she has never been able to do before wright out of the blue. The inchstone accomplishments that pop out of nowhere. But It is the most rewarding when Ebony acknowledges us by giving us a hug or a kiss and saying “Love you”. That is a rare occurrence.
If you could go back in time and give yourself one piece of advice on the day Ebony was diagnosed with BBSOAS, what would it be?
The only advice I could give my self if I could go back to the day that we got the results about Ebony and Kristy would be don’t give up the fight.Their are kind people out there that are willing to help but they won’t come to you. You have to go out and find them.
What is the hope you have for Ebony’s future?
We hope that Ebony has a happy and healthy future with lots of love from all the people that she meets along the way and we will always be there for her just like everyone does for their children. We know she has a hard and bumpy road ahead. That’s why it is so important to spread awareness about BBSOAS. The more people know and understand about BBSOAS and the people that have been diagnosed with this syndrome the better it will be for everyone.
Carlie is the President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.