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Amy Case Study Transcript

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Amy Case Study Transcript

Amy's Spinal Muscular Atrophy Makes Pregnancy a Challenge

Amy: We’ve been married almost 10 years. I was born or diagnosed with spinal muscular atrophy type one. It is a genetic, progressive neuromuscular disorder.

I’ve never sat on my own. I was given a tracheoscomy at the age of five. We learned that, actually, the prognosis is two years of age. I’m now 36.

I suction frequently. I use a BiPAP overnight to open and expand the lungs, keep them open and hopefully, free from infection, and a lot of machines to help keep the respiratory system going and healthy.

The other impact is, like I said, the strength issues. I’ve been in a chair all my life. I’ve never walked, so that’s nothing new to me. But some of the issues with strength in my hands and fingers are, like I said, you just, you learn to adapt.

I went to our regular doctor and said something’s not right, do the blood work, find out what’s going on. Three blood tests later, they found out I was pregnant. The first two were completely negative, nothing showed.

He was so supportive. He was phenomenal. But he admitted, this was not his area. He was a little leery about getting involved heavily, just because of the risks that might be involved.

So, he referred us to, and we’ll keep names out of it, a world-renowned hospital, to a world-renowned high-risk team, and it was horrible.

I was treated like dirt. My baby, my unborn baby, was treated like a non-existent thing. I remember going to them and asking for an ultrasound just to make sure everything was okay, and it was questioned why.

I remember being on the table and doing the ultrasound and seeing my baby for the first time and I was, you know, elated and happy, and yeah, scared.

But yet, the doctor had come in and his first and only words were, so do we have a live one here or not? And it was just, it was horrible. I laid there, I was dumbfounded, I didn’t know what to say.

We left the appointment and all I did was turn to Steve and say please promise me one thing, and I said never take me back there. And at that point, he said, most definitely.

And we left and we began researching other people we knew with disabilities who had kids. Fortunately, Dr. Murphy referred me to Dr. Kirschner and also a respiratory pulmonologist, who was Dr. Winslow.

As there were so many doctors brought in and you were trying to just, you know, get everything straight in your head, on top of being pregnant, it wasn’t easy.

I remember, honestly, the first conversation I had with Dr. Murphy, and that provided us with the hope we needed to say we can do this.

And once we were in the room at the RIC and we talked, we met Dr. Murphy and then she brought in Dr. Kirschner and Dr. Winslow.

They were very honest and that was, I think the best thing about the whole experience. They were very honest. They didn't say, "you know what, we can do this, we're confident."

They said flat out; we have never done this before. We have never had a patient who was diagnosed with SMA type one, first of all, live to the age of being pregnant, let alone being pregnant and getting through it without some difficulty, without some impairment, without anything, you know, negative happening.

But, if you’re willing to give it your all, you are willing to go through it, we will be there right beside you, helping you through, using our expertise in determining what you need, what’s going to be best for you and the baby, we’ll do that for you.

And that’s all we needed. You know, we didn’t want the whole daisy picture that everything’s going to be perfect and we’ll get through this fine. We wanted reality.

But we also wanted doctors that would listen and not talk to us, but with us, and Dr. Kirschner has always done that. You know, the whole team at RIC has always done that.

If they found something needed to be different, they would talk us through. They didn’t say, you need to do this. It’s, you know what? We think this might help you, these are the reasons why, you tell us what you think.

And you can’t beat that in medicine.

Actually, it was 34 and 1/2 weeks, Danni was born at. That’s when some of the pain issues started. With Danni, I believe, it was roughly three weeks I was in the hospital letting them take care of my pain until she was actually born.

With being cesarean, we kind of went well, we didn’t plan it, the doctors planned it.

Steve: Dr. Murphy planned it.

Amy: When the baby would be born, and we were actually told 10 days ahead of time, okay, get to here. If you can get to here with virtually no problem, then I’ll take her. And we had an end point in mind.

Steve: To tell her a few more days or a week, that was a goal she could work towards and they take you in and the show you the little incubators and stuff and its like, okay, I did not expect to see this. I don’t know that I was ready for this.

But she said what do you want for your kid and I want the best I can have.

Amy: I remember the morning that she was born. I was very nervous just because I knew what would be involved with the surgery and I’ve never been one to like surgery, honestly.

Even though I knew the doctors were amazing people, there was still the fear there of what could happen.

I don’t remember exactly, like every detail of that day. I just remember there being a lot of people.

[Hospital sounds]

[Baby crying]

And I remember hearing somebody yell, you need to wake up, wake up now. And I felt this weight put on my chest and all I remember hearing was, wake up mommy and say hi to your baby.

And it was like what? And I woke, opened my eyes and she was sleeping on me and I couldn’t talk because I was on a ventilator, but all I said was hi baby, but nothing came out, and she opened her eyes and looked at me, and it was just, that was it.

I remember the conversation coming up, I was actually in the hospital and Steve and I had talked about, do we want to do this again? And all things considered, pregnancy number one was just so easy.

And I remember Dr. Kirschner being in the room and I was talking to her and just telling her, I think we want to do this again. And her response was, okay, I think this is something we need to talk to the other doctors about.

And the only condition I had was okay, I will do this again so long as the three of you are with number two.

Interviewer: The three main doctors?

Amy: Dr. Kirschner, Dr. Winslow, Dr. Murphy, all had to be there. I said if you can promise me that, we can do it.

Dr. Kirschner’s role was very similar to what it was in the first, but she was more of a coach too, in number two. Things are a little harder nowadays, but a lot of that strength had come back.

It just, it took a lot from me but also, I don’t think what people realize is the role that the kids have in the therapy. You know, you have this baby there. This baby can do nothing for itself, and you have to. And you can’t go to the baby and say, you know, I’m just too tired. You know what, I don’t have the strength today.

So you really push yourself to do everything you can. I mean, yeah, there are people there that step in to help, but this is my baby. I don’t want my child to get bonded to a PA that’s going to come and go in three months.

Their dad, sure. I don’t have an issue with that, but it’s our kid, and that was the attitude and that really helped me get through.

Oh, it’s a lot of fun, I mean, they’re very active, they’re very entertaining. You can be having the worst day ever, and something sparks them and they cackle and laugh and suddenly, everything that’s horrible and hurtful goes away. You know, they definitely brighten your day. They keep us really active.

I mean, with our situation and living with us and they, things can get pretty depressing when the disease takes over and runs things, you look at the kids and you fight back 10 times harder.

We know that the medical team was very communicative with each other. And actually, there were times where, if we couldn’t reach one person in the team, then it was usually Dr. Kirschner that would step up and we were able to talk to her and she would then go to the rest of the team and explain what’s going on, explain my feelings and everything, and they would all come to a decision together.

The other thing that was amazing is they were never afraid to talk to us. You know, so many times, when you’re living with a disability, people talk to you but they kind of talk at you. Its like you’re almost not human to them and you’re just a subject. And we were never that to these doctors.

We were actually people who just wanted to have a family and they had the knowledge, they had the expertise to possibly see that happen, and they were willing to put it into action and make it happen.

Yeah, things could have went wrong, but we were very fortunate and we owe everything to them.