Ashley Benoit Olivier Interview

Original recording date: April 2019

In this interview, She discusses her’s sons rare disease diagnosis, Facebook Support Groups, Trisomy and Drew’s Journey.

Transcript

Mary Baudoin (00:17):

Hi everybody. This is Mary Baudoin, your host for This Ability Podcast. Today we have our guest, Ashley Benoit-Olivier, and our topic is rare disease diagnosis and support groups within that. Her son Drew has trisomy, and we're also going to talk about a Facebook page that she created called Drew's Journey. So Ashley, welcome to the show.

Ashley Benoit-Olivier (00:41):

Absolutely.

Mary Baudoin (00:42):

So tell our audience a little bit about you, where you're from and a little bit about your family.

Ashley Benoit-Olivier (00:47):

My name's Ashley. I'm from Louisiana. I have three children, a husband. They call us the red ones because we're all redheads. But Drew is my baby.

Mary Baudoin (00:56):

How old is Drew?

Ashley Benoit-Olivier (00:57):

He will be three on April the first.

Mary Baudoin (00:59):

Okay.

Ashley Benoit-Olivier (00:59):

Liam is six and Lucy is five. When I was pregnant with Drew, our doctors noticed some different things about Drew. He had some cysts on his brain. Because of that, she sent us to a specialist who would do some more testing on me and him. The specialist also saw that he had an artery missing in his umbilical cord. So he at first thought maybe trisomy 18, which would've been extra chromosome on the 18th chromosome. We did testing, opted out for an amniocentesis because I knew I was going to continue with the pregnancy no matter what. So no matter what the testing said, we were going to have Drew.

Mary Baudoin (01:37):

Did you have a normal pregnancy? I mean, "normal." Any hospitalizations or anything like that?

Ashley Benoit-Olivier (01:43):

No hospitalizations. We had talked about that the other day. Nausea, really bad nausea so bad that at one time I was in the bank and I was making a deposit and I was like, "I need y'all bathroom right now." And they looked at me kind of funny like, "I'm not going to rob the bank. I just got to go." So yeah, everything about which, that was a question the geneticist asked us was the pregnancy, if it was any different from others. And yes, I have to say that that pregnancy seemed different. I just felt different. Something felt off.

(02:14):

Towards the end. He was actually born early. He was actually to be born on April the fifth. I had went in for a checkup and the doctor said, "You have no fluid left." All the fluid had leaked. And he said, "If you wait till Tuesday to do the section, then he's not going to make it. You need to go to the hospital now." That was another thing that the geneticist had looked at and said, "That's a marker of some type of trisomy is the fact that the fluid leaks." Don't know where it goes.

Mary Baudoin (02:42):

I looked up a little bit of a trisomy information and you have some great information on Drew's page and you said March is the trisomy awareness month.

Ashley Benoit-Olivier (02:52):

Yes, it is.

Mary Baudoin (02:52):

So here's one fact, that humans do have 23 pairs of chromosomes for a total of 46. Trisomy is a condition in which an extra or third copy of a chromosome is present, resulting in a total of 47 chromosomes. The prefix tri of course means three. And here's another interesting fact that a full trisomy means that every cell in the body has the third copy of a chromosome. A mosaic trisomy means that only some of the cells have the third copy.

Ashley Benoit-Olivier (03:24):

Yes.

Mary Baudoin (03:24):

Is that what Drew has?

Ashley Benoit-Olivier (03:25):

Yes.

Mary Baudoin (03:25):

Yes.

Ashley Benoit-Olivier (03:26):

A mosaic. After he was born and everything, his doctor diagnosed him with a mosaic, trisomy eight. It's the eighth chromosome. We've been just kind of living with that diagnosis and it's really rare. The only thing that I kind of found, I hit the ground running on Facebook, [inaudible 00:03:43] goes to Facebook. So there is a trisomy eight mosaic Facebook page. You ask to be added as a member. I looked at it the other day and there was about... globally, there's only 700 people in this one little group worldwide.

Mary Baudoin (03:55):

Worldwide.

Ashley Benoit-Olivier (03:56):

So that crazy small group, yes.

Mary Baudoin (03:59):

Do you find that it's still a good network of people to connect with within that group?

Ashley Benoit-Olivier (04:04):

Absolutely. A lot of us, we get on there and we say, "Hey, we're going through this. How many of you have gone through this? What did you do?" Or insurance questions because insurance questions is a whole other ballgame. On that page, you can get on there and try to answer all your questions because like you said, it does vary. Because it is mosaic, not every kid has the effect itself the same. Everybody varies. They can kind of guide you in the right direction.

Mary Baudoin (04:33):

How old was he when his doctor noticed that something was off?

Ashley Benoit-Olivier (04:36):

Pretty much right at birth. His soft spot on his head was large. There was no bone that separated the front and the back soft spot. So they said that was kind of a odd thing. So they had referred us to a neurosurgeon who told us there was then really she could do because all that had to be done is the hole close. And she couldn't close the hole. It had to take its own time. And she said it might never close. He might continue with a soft spot for the rest of his life. He later, when he turned one, they said they had recommended he have surgery. So he had a few things going on there that they did surgery on when he turned one.

Mary Baudoin (05:13):

Did you notice developmental delays and things that your other children were doing by a certain age that he wasn't doing?

Ashley Benoit-Olivier (05:19):

I think I guess when everybody goes through that, they notice something. He wasn't smiling when I noticed my other children would start to smile. He wasn't rolling over. He wasn't doing the things at a typical stage a child his age would do.

Mary Baudoin (05:36):

Whenever you guys found out about the diagnosis, how did your family react?

Ashley Benoit-Olivier (05:40):

Well, both sets of our parents are very supporting of everything and they love our children very much. There was no terrible reaction. Both sides were both willing to accept it, do what we needed to do to help Drew.

Mary Baudoin (05:55):

Right, right. Here's another interesting fact about trisomy, that Down Syndrome is the most common living trisomy affecting the 21st chromosome and occurs in one out of every 800 births. Edwards syndrome, trisomy 18 occurs in one out of every 5,000 births. Guess this is pronounced Patau syndrome, trisomy 13 occurs in one out of every 16,000 births. Warkany Syndrome two trisomy eight occurs in one out of every 25,000 births. He has the mosaic trisomy, which is even more rare. So tell me about everyday life with Drew.

Ashley Benoit-Olivier (06:36):

My other two kids, getting dressed with them is so quick and easy. But Drew, there's a lot more to it than just getting dressed, comes with braces for his legs, special shoes, we got to put glasses on. We have a routine where he has to take his medicine. He does have hypothyroid, so he takes medicine every morning and he knows his routine. Yeah, the beginning of the day is a little hard because we're already running crazy. Now we got to slow down, do medicine, do shoes, do braces. He goes to a sitter. I work full time. His therapist come to him, which is a blessing for me. He does speech on Mondays. He does physical therapy on Wednesdays and he does occupational therapy on Fridays.

Mary Baudoin (07:19):

He is able to walk?

Ashley Benoit-Olivier (07:20):

Yes. When he turned two, he started walking. So he's been about a year behind schedule. Most kids walk at one, walked at two. It was hard at first because he had a lot of therapy to do to that for that, but he's walking now. We're working on jumping and running.

Mary Baudoin (07:39):

I want to ask you, what is the relationship like between his brother and sister?

Ashley Benoit-Olivier (07:43):

They love him. They fight, just normal brother and sisters do. Somebody will go to take mostly food from him because he loves to eat, loves to eat.

Mary Baudoin (07:52):

I do too.

Ashley Benoit-Olivier (07:54):

But if they try to take food from him, he'll say, "No. Mine." They fight like brothers and sisters, but they love even harder. And I think for kids, it's odd that they would understand it. It's like they understand that something's different about Drew. I feel like they're more caring for him and caring for other-

Mary Baudoin (08:11):

Because they're probably going to have friends that'll do a sleepover at your house. And they'll probably ask questions like, "Hey, what's up with your brother?"

Ashley Benoit-Olivier (08:17):

That was last year. My two older ones wearing tee ball. That kind of hit me hard whenever a little kid asked his brother, "Is your brother blind? Why does he wear glasses?" And he's going to have to answer questions like that one day, "Why is your brother like this? Or why doesn't your brother go to school with us?" That one hit me hard because that was the first time that ever-

Mary Baudoin (08:36):

I think a lot of moms and dads and caregivers can relate to what you're saying. You and I had a discussion about Drew last week about his immune system, that it's very compromised. Tell us more about that.

Ashley Benoit-Olivier (08:48):

Very impactful, actually. I never thought that an immune system would play such a big role in how our are going to pan out in the future. We're doing hemoglobin infusions, which his immune system is solo. They tested it. The immune system is very complex, which I've learned. I've learned a lot of medical terms. His immune system is very compromised. People donate plasma and they spin it into a medication. Subcutaneous, which means that it just goes right underneath the skin. It's not in the vein, so we do it at home. My husband and I take turns sticking and every other week. They pretty much told with him on these hemoglobin infusions, he has zero response to immunizations. So it's pointless to even do immunizations. So they said while we're on this hemoglobin infusion, that is his immunization.

Mary Baudoin (09:39):

Because the blood is pretty much purified to some degree.

Ashley Benoit-Olivier (09:42):

Yes, yes. Absolutely. We hope that this is his best defense against anything.

Mary Baudoin (09:47):

How often does he have to get that?

Ashley Benoit-Olivier (09:49):

Every other week, the last virus he had, everybody else had it in my house. It was of a 24-hour bug. We ended up in the hospital for five days.

Mary Baudoin (09:58):

Oh wow.

Ashley Benoit-Olivier (09:58):

Something that may be 24 hours for you or I, it will be a week or two in the hospital for him. Hopefully these infusions will help. He also has T-cell deficiency where they kind of explained it to me. His body's kind of fighting itself. He has some, the B-cells are good and the T-cells are not. So the B-cells are trying to attack the T-cells. His body's in a constant battle with itself. They're talking maybe later on down the road, possibly a T-cell transplant, a bone marrow transplant to take the bad T-cells, put fresh new-

Mary Baudoin (10:31):

What is his life expectancy?

Ashley Benoit-Olivier (10:33):

There's not a lot of information out there. They do have on trisomy, they have... It's Adults Living With trisomy, a pamphlet that had found when we found the diagnosis. So there is adults out there living with trisomy and I read in the pamphlet that they can still have children. They still can live normal lives. On the support group, the Facebook page they have, it's nice to see other parents of adults with this trisomy eight. They'll post and they'll say, "This is my son, he's 50." And they'll post his picture and gives us some kind of hopes of what the future might hold. I know when we first got the diagnosis, my husband had found an article from a doctor that said he had never met an adult with trisomy eight. So that was like-

Mary Baudoin (11:19):

That's hard. You think the worst.

Ashley Benoit-Olivier (11:21):

Yeah. And that's another memory that sticks out because that was hard for him. In my heart of hearts, I guess I didn't want to face the inevitable. I still have hope for his future. I think that he's going to have a big, bright future. He loves rock music.

Mary Baudoin (11:39):

Oh, awesome.

Ashley Benoit-Olivier (11:40):

On our page, you can see videos of him rockin out.

Mary Baudoin (11:44):

Cool. So tell us more about your page. What's the name of it? How can people find it?

Ashley Benoit-Olivier (11:47):

Drew's journey. It's on Facebook. I created the page. We had did a benefit for him just because back to the insurance, at one time he needed some testing done that insurance wasn't going to pay. Our family got together and they decided to put on this benefit for him to help raise the money for his future medical costs, for the cost of the test. So I created the page for that and to update people all his milestones he was meeting. And then it just kind of took off. We update pretty frequently and letting people know how he's doing, something new he did this week.

Mary Baudoin (12:22):

That's good. Correct me if I'm wrong, but whenever you were pregnant or whenever you had him, you started a journal documenting-

Ashley Benoit-Olivier (12:30):

Yes.

Mary Baudoin (12:30):

And you want to eventually turn that into a blog, right?

Ashley Benoit-Olivier (12:32):

Yes.

Mary Baudoin (12:33):

Yeah.

Ashley Benoit-Olivier (12:33):

I actually have two entries out.

Mary Baudoin (12:35):

We can find those on Drew's journey?

Ashley Benoit-Olivier (12:37):

Yes, on Drew's-

Mary Baudoin (12:37):

I'll definitely look that up. Well, Ashley, is there anything else that you want to talk about with Drew, anything that you'd like our audience to know or anything that you'd like to share?

Ashley Benoit-Olivier (12:46):

It's not a diagnosis, it's more than that. He's such a joy and if I wouldn't have continued with the pregnancy, which that was never my plan, he wouldn't be here to show us what life is really about. It's about the small things and taking it day by day, and that's kind of how you have to do it. When there's so rare disease. You don't have a lot of information out there. I know some syndromes that have teams of doctors who see this on a regular basis and so they have a team that jumps in and takes care of that child. But we really haven't had a team. We don't have a team. We kind of have to take it day by day. And when something arises, we see a doctor for that. So yeah, it's way beyond the diagnosis.

Mary Baudoin (13:32):

It's a way of life. I think he's an adorable child. I love looking at the pictures and the videos and of course with the siblings as well. You guys do great work with him and it's good that you're a part of a support group that can help. You can talk about those kind of things. I think that's going to wrap up this episode of Tries for Me and Ashley, I want to thank you for sharing your personal story. I know it's very personal to get out there, the information about your family. I think that if somebody's listening and they have had a child that was recently diagnosed with this or some other form of rare disease, I think you've given them some hope.

(14:05):

I think that your story is something that somebody else could connect to because they've probably gone through some of the things that you're going through or they might be just finding out that their child has this diagnosis. It's refreshing. It makes other people feel uplifting when they can hear stories like yours. So thank you so much for being here.

Ashley Benoit-Olivier (14:22):

Thank you for having me.

Mary Baudoin (14:23):

All right. All right, everybody. That's going to wrap up this episode of This Ability Podcast. Thank you so much for tuning in and we'll see you next time.