The Unseen Voyage of a Rare Mom

When Michelle first learned of her daughter Hailey's rare diagnosis, an ultra-rare genetic disorder called Jordan's Syndrome (ppp2r5d), the ground beneath her seemed to shift. Facing the labyrinth of healthcare during the COVID-19 pandemic, she became a beacon of resilience, her story a mosaic of love, adversity, and unwavering determination. Join us as we unravel Michelle's compelling narrative, revealing the raw and intricate journey of parenting a child with special needs. From adapting to virtual medical appointments to decoding a symphony of new allergies, Michelle's candid reflections offer a deep dive into the realities that shape the world of 'spoonies'—those remarkable individuals and families who navigate life with chronic illness.

Our exchange with Michelle transcends the personal and taps into the universal—the strength found in community and the solace in shared experiences. As she opens up about her therapeutic escape through blogging and the sanctuary of support networks, we are reminded that no one walks this path alone. Our conversation promises not just to touch your heart but to forge a connection, extending a virtual hand to all those who might find themselves in the echoes of Michelle's journey. This episode is a testament to the power of storytelling, advocacy, and the unspoken bond that links us all in times of uncertainty and hope.

Be sure to check out @mamabearfor rare on all social media platforms (Facebook, Instagram, TikTok) and her website and blog at mamabearforrare.com

Links to all mentioned in this episode:

https://www.instagram.com/mamabearforrare?utm_source=ig_web_button_share_sheet&igsh=ZDNlZDc0MzIxNw==

https://jordansguardianangels.org/

https://effieparks.com/

https://www.instagram.com/extraluckymoms?utm_source=ig_web_button_share_sheet&igsh=ZDNlZDc0MzIxNw==

https://www.instagram.com/findyourrare?utm_source=ig_web_button_share_sheet&igsh=ZDNlZDc0MzIxNw==

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Transcript

Jen: 0:42

Hi, my Spoonie Sisters, it's your Gracefully ,Jen, , and today I am completely honored. I get to sit down here with Michelle and talk about her beautiful, rare daughter, and I'm so excited to welcome you. Hi, Michelle, how are you? Hi?

Michelle: 0:59

thank you for having me. I'm really excited and also honored to be here and talk a little bit about Haley and her rare diagnosis and how we have kind of navigated something that we weren't expecting.

Jen: 1:10

Okay, so I kind of just want to dive in. And you know, you told me that Haley is almost four years old and she was born at the beginning of COVID. So can you kind of walk us through all of the beginnings of all this? Well?

Michelle: 1:24

Haley, since, I would say, the beginning of my pregnancy has been kind of a mystery and just throwing surprise after surprise. She was actually originally a twin and we lost the other twin early on in the pregnancy. So the pregnancy was a little bit different than with my son, just in the fact that you know it. Just a lot of unexpected things happened. And then my pregnancy was pretty typical, like you know, genetic testing was done and everything was pretty much, you know, on track to be an okay delivery and a standard C-section.

Michelle: 2:01

And nope, in true Haley fashion, she was like five and a half weeks early. I guess she knew COVID was coming and the world was about to shut down. So she's like I'm good, here I am. So yeah, so she was early and you know, she spent a little bit of time in the NICU, which now, in hindsight, makes kind of sense because she did have this rare diagnosis. So, yeah, it was definitely she threw us through some loopholes, but you know we did everything we could to kind of figure out her, her rare diagnosis, and we are, you know, fortunate in the fact that we got a diagnosis so early on, because I know there's a ton of people out there who may still be wondering about their child, and I just do feel very lucky and fortunate that we were able to get some answers early on.

Jen: 2:48

Okay, so it sounds like right from the beginning. Like a lot of the rare mommas that I've talked to, you just knew something wasn't quite right. Where did you go from there? Did you take her to the pediatrician and and try to ask questions?

Michelle: 3:01

She was whisked away pretty quickly and I saw her for maybe 2.5 seconds. But like in that short time I just kind of knew something needed to be thought. You know I was like this isn't right, like I just feel it in my bones. Even the C-section was not easy. The doctors were struggling a little bit to get her out which also again in hindsight makes sense because she had such low tone or hypotonia that they couldn't extract her. So I think just the delivery that should have been kind of just straightforward and easy.

Michelle: 3:34

You know, that kind of threw me through a loop and so early on I was pretty much pressing every nurse, every doctor, my family, my husband, like something isn't adding up.

Michelle: 3:45

And then I became a doctor and I was all over Google trying to figure it out and I did say early on in the NICU I said like can we do more testing? I asked the NICU doctor and you know like I just pressed for answers and we did do the genetic testing but, as most people know, it's still a pretty general panel, so it's the things that you would expect to look for. So when they came back and said you know, your child doesn't have any of these diagnoses, I was like great, but now what? So that was just a whole big journey and you know we were trying to figure out who do I go to next, and it was really just trying to figure out what specialists to see. So we brought her to as many specials as we could again, because if it was because of COVID we just couldn't bring her in person physically. So that was also really difficult with explaining to a doctor.

Jen: 4:38

So it was a lot well, yeah, especially because a lot of things we need the doctor to look at our child right and, and you want them to be able to look and see what is going on and what are these symptoms that you're seeing. And when you can't do that, how in the world can you get them to understand what you're trying to say and that you're not just a paranoid mom? So what was the first?

Michelle: 5:01

specialist.

Michelle: 5:02

Yeah, so the specialist while I had. I had talked to the pediatrician several times and I was like, listen, like she's not doing that, she's not meeting this milestone. And I remember at one point I diagnosed her. Well, I diagnosed her many times, but at one point I said you know what? I think she has this. And I asked the doctor and we did a virtual appointment and he kind of Brush me off a little bit and was like I don't think so and I was like, okay, I still think there's something.

Michelle: 5:29

And then at one point my husband is like you know what I'm seeing, what you're seeing, and we thought maybe she Was visually impaired. We weren't sure she was. She was tracking and she wasn't really eye contact and she was about like two and a half three months old and I just remember with my son Was no typical, like he was doing these things. So at that point we had seen an ophthalmologist and I called us I'm not sure if my daughter See and he got her in like the next day, because I just lost it on the phone and he got her in and he said, listen, everything structurally looks great, but I think you need to see a geneticist. And you know, I mentioned some of the things about her that no mother wants to hear. It's really hard to hear those kinds of things, but I think I needed to hear it and be validated in that sense. So that kind of became our path. Then we saw geneticists and so on and so forth, but that geneticists actually misdiagnosed her. So it was definitely a lot of hurdles.

Jen: 6:32

Okay, so what was the miss miss diagnosis?

Michelle: 6:35

we didn't really look at her extremities, he didn't really interest. I just looked at her and said I think she has a congeplasia, which is a form of dwarfism, which I really didn't think was too far off, because at one point I said, oh, maybe she has that, maybe that's you know something. I found the internet but In my gut I said I don't think so because she was still missing different milestones. I didn't line up with that specific diagnosis. So that was a little bittersweet because I was like, okay, I feel validated. But then when we got the answer that she didn't have it, I was like Now what? So it was really really difficult navigating that and feeling kind of isolated. Like you know, I didn't know what to do next.

Jen: 7:19

Okay, so the miss diagnosis. Where did you go next from there?

Michelle: 7:23

neurologist who did you know all the testing she could do. When everything kind of checked out, she wasn't really sure, like if there was anything else going on. But she's like you know what, let's just do some more genetic testing. And she sent that out and I waited, and I waited and I finally called the office and I was like Must be something. Like did you get anything? And they said give us a few days.

Michelle: 7:45

And called me back and I am obsessed and so grateful for this doctor because she did have a diagnosis. But she didn't want to call me in until she knew more about it because it was this ultra rare Disease that you know less than two hundred people globally had. So she waited until she could find everything and put in a packet and call me in and sit me down and she told me this is your daughter's diagnosis, she is Jordan syndrome. There's a facebook family out there, there's this whole community. You know, this is what I know, this is what I found out. And so she sat me down and again we are so beyond lucky to have gotten that you know diagnosis because again it was so rare. The fact that she found it was just like the stars aligned for us, because we could still be sitting here waiting and wondering. But we were very lucky in that moment.

Jen: 8:37

That is incredible, and the fact that she took the time to make sure that she got it right, to give you all the proper information to. That's how people should be. That's the kind of work they should do. That's what they should strive to be right? Okay, so now you have the diagnosis. Yeah, exactly, a lot of people don't get that. So now you have it. Where?

Michelle: 9:03

do they send you next? Yeah, I first joined this facebook group because I was like what do I do? You know, I need like some kind of support. That's the most isolating feeling, thinking like I don't have an, I don't know what to do, where do we turn? And I went to bed. My husband and I know stayed up all night talking and, and you know, we're like we're gonna figure this out, we're gonna get through this, we're gonna get her whatever she needs.

Michelle: 9:27

And when I woke up after joining the facebook group and just like introducing myself, I woke up to messages from probably everyone in the community with pictures of their children, like telling me they're here for me. And it was just like such an amazing feeling, knowing that like I was alone. But I really wasn't. And I wasn't alone. You know, like I had this new global family. And then we were connected with a geneticist, dr Chung, who was like I call her the Beyonce of like the genetics world and she is just amazing. And she brought us into the office and we met her and just she gave us so much hope and kindness and, you know, just directed us like what should we do next? And we were again really lucky that we live in New Jersey and this doctor was in New York City and we had access and we could, just you know, drive in and go see her. So that was like really again like we felt very fortunate in that sense.

Jen: 10:24

That's actually really really good. So, okay, so you have her pretty nearby. I mean, it was her right. I'm not butchering that. Yes, yes, oh, my goodness sorry, I warned you about my brain. I warned you about my brain, okay. So, as you're talking to her and finding out more information from not only her but also the community, is this something that you had to both be a carrier to pass down to your child?

Michelle: 10:50

Actually we're both tested just because they do a lot of research and we we both aren't. And it is a random mutation that can occur in utero but it also can be passed down. And we are finding, as our population grows, and we're finding, you know, more individuals diagnosed with Jordan syndrome, or the scientific name is PPP2 or 5D for Haley, specifically her variant. We're finding that there are parents that have passed it down so they didn't know they had it. They, you know, and it's just science to me is so crazy and amazing. But you know, we also learned a lot and I learned a lot. I'm not a medical person, I am not. I don't love science, but I feel like I am pretty well versed in it now because you just kind of have to be and to understand the complexities of you know, your child.

Jen: 11:40

Okay so now she's a little bit older and and you've you've met this wonderful community. I'm hoping that means you've gotten answers. What does her her care plan?

Michelle: 11:50

look like so lucky because she is in the most amazing place. She, her school is beyond anything I could have ever asked for or hoped for. She is receiving like a wonderful curriculum and she gets all her therapies every single day, whether it's OT or PT or speech or feeding, and they're working on different communication devices and applications and like not only that, but the people that look after my child every day like love her. You know it's just like when we talk it's you can tell. It's so apparent that like they're trying to teach her and they're trying to like help her in every way, but like there's this level of love that they truly care for her. So I know, when she's not with me, like she is just as loved as if she were home. So you know, we have this like wonderful plan in place and they help us get all her adaptive equipment and help us like with insurance, which I could talk for days about. But they're just so helpful and I just feel like we have so many different things in place for her that help her be the most successful Hayley that she can be.

Michelle: 12:57

What does her future look like? We're hopeful that she is going to do all the things, but there's a lot of question marks. I think that we don't know she's hate using the word nonverbal because she's verbal in her own way. She has voice inflections that tell us things and she uses body gestures and we know what she needs and what she wants. But I do see that it's in her that she really has so much to say to me and she's starting to babble and I know she just wants to tell me off or tell me to go away and I cannot wait for that day. But I do foresee that she is going to be more mobile. I know she has a lot of motivation. So I don't know. I see a lot of beautiful possibilities for her and I think not only are we pushing her but I see her pushing herself. So I think big things are in her future.

Jen: 13:50

That's incredible. Ok, so what do her symptoms look like? What does a day in the life of Hailey look like?

Michelle: 13:56

Hailey, among the other children with Jordan syndrome. A big symptom, I would say, is hypotonia or her low muscle tone. So physical things for her are more difficult than your average person. So she does struggle with sitting. We're still trying to get her to sit independently and there was a period where she was and then she was like, eh, I like rolling around on the floor. So we are trying to navigate that a little bit for her.

Michelle: 14:23

But we do have a lot of adaptive equipment that helps her and her therapies. But she is sassy and she is spicy and she gets where she needs to go without walking or typical crawling, so she gets to the places she needs to go. She does have seizure disorder so we are controlling that with medication and she sees a neurologist every few months and we just keep track of that. But her day doesn't look like a typical kid but we make her life as typical as possible and expose her to everything. And she has an older brother who they kind of fight over toys sometimes and I'm like I love this and she can't speak words yet but she tells him when she's annoyed and when she wants to watch her show and she's really coming into her own and she's turning four in four days and to me it's amazing how far she's come. So her day is different than what we expected, but it's beautiful in its own right. So, yeah, it's filled with love at home and then she goes to school and we know that she's thriving there.

Jen: 16:35

That's wonderful. What does her care plan look like in a day? Is she able to eat on her own? Does she have medications that she has to take? What does that look like?

Michelle: 16:47

Does take seizure medications in the morning and at night, so we usually give that to her with her bottle. She's not eating solids. She does eat purees and she's mostly formula-fed, a feed protein. But it's amazing that she doesn't really chew foods. But I will give her half her pill in the morning with her bottle and she swallows it. I'm like you are amazing, Because even I as an adult I struggle with taking pills. So it's just amazing the things that she can do. But they're working on feeding therapy at school and we're working on that as well. But we struggle too because all these allergies just popped up. So now we're like, OK, we need to navigate that. It's another hurdle, but we'll figure it out and we'll get it, but we'll get there.

Jen: 17:34

So are the allergies something that typically comes with this, or is this a whole separate thing, separate thing?

Michelle: 17:41

We're just like navigate that one. I'm like great thing. But you know, she she was eating like yogurt when she was an infant. Like that was her first puree food and now all of a sudden she's allergic. So we're like all right, well, we're just going to find alternatives and we'll figure it out as it comes. Yeah, I'm not sure if that's like a typically like Jordan syndrome thing or just a Haley thing.

Jen: 18:05

So so I'm going to ask you a question that's more about yourself, not Haley, because you are a spoonie in your own right. You know you've got all this energy that's going to take care of your daughter and doing the best that you can for her. So I consider you a spoonie too. So what would be in your spoonie toolkit to take care of yourself in a day? I?

Michelle: 18:26

mean I can totally relate to like sometimes I feel like my spoons are depleted and I'm like I need to reenergize.

Michelle: 18:34

And I do feel like, you know, with Haley she does lose, you know, hours of sleep in the night and then that affects us.

Michelle: 18:43

So, you know, some people don't agree with us, but sometimes we will put her iPad in her room and play her favorite show, cocoa Mellon, whether she's sleeping or not, or just watching it, like for us, like we need to sleep, because if we aren't well rested or taking care of ourselves, how are we expected to take care of our child? So something as simple as just, you know, like survival mode, like we need to sleep, that's something that we do and I'm really lucky that my husband is really helpful and sometimes I'm like I need to go to bed at like 730, like once the kids are to bed or can you put them to bed. And you know we just work as a team in that way, you know, because sometimes I'm just I'm done by 730. I teach and then I come home and I take care of my kids and some days I'm like I'm done. And you know it's great to have such a wonderful team, absolutely.

Jen: 19:32

And you write a blog.

Michelle: 19:34

You want to tell us a little bit about that that's kind of been my outlet or my therapy since really receiving Haley's diagnosis Full disclosure. I'm proud of it. I'm a big advocate for therapy. I started therapy pretty much when Haley was two months old, when I was kind of navigating the isolation and you know I love therapy and I think that it was so helpful and beneficial for me and my therapist at the time said maybe you should write write down your feelings and I did.

Michelle: 20:04

And then one of my very good friends who used to be a teacher she actually left the profession and she now has this amazing website business and she created a website for me and she's like just blog, just do it. And that was kind of the beginning of it for me and that's when I really started to feel like I had a handle on my emotions and, you know, a diagnosis and it just really helped me channel everything and I think that it was helpful for me to relate to other parents that may be, you know, receiving the same diagnosis and like I understand how they feel and they understand how I feel. So it's just been truly a wonderful tool for me and so many others.

Jen: 20:43

Absolutely and honestly. How can you care for others if you're not caring for yourself first? I almost said that backwards, don't mind me, but you know it's important. You cannot fill anyone else from your empty cup. You can't. It's impossible. Yeah, so I'm glad that you found some outlets like that. What kind of tips and encouragement would you give to someone out there that is at the beginning stages of the same journey that you've been going through?

Michelle: 21:12

Absolutely like embracing every emotion. It's okay, like you know, I'm four years into it and there are days where I'm like I got this, like we can figure it out, and there's days where I'm just a mess and I'm a ball of emotions and I'm teary and, you know, everything just kind of hits me wrong. And sometimes I see a commercial with like a mother and a daughter like doing things, and I'm like why isn't that me? But I also know that I have a different story and it's a beautiful story and it may look different and it may be different. So I try to look at those moments and remember that, like everyone has their own journey and just embrace it and I feel like being able to I don't want to say accept it, because there's days where I don't but just accept the fact that, like, this is your story and you know no one else is writing it for you and you know you'll figure it out and you'll tell it the way you want.

Jen: 22:06

I love it. I love it. So how do you maintain your sunny disposition?

Michelle: 22:12

Some days I do, some days I don't. You can just ask my husband. But you know, I think that I just look at life and it's, you know it's precious and it's short and you know if you spend your days and every single day just kind of worrying or just thinking too much about things and you're just not going to have the time to. You know, be in the present and enjoy the small things.

Jen: 22:38

Yeah, and you know quite honestly, it's okay not to be sunshine and rainbows every day, because our lives are never sunshine and rainbows. All the time they're just not. And you have a beautiful child that has an incredible life with an incredible mother, so why not love it? Who or what lifts your spirits on those really hard days? You?

Michelle: 23:00

know, I feel like I look at my son, who you know he's six and he has his own struggles too. You know he doesn't get to play with his sibling in the same way, but he finds different ways and I see that he's so empathetic and like that makes me so proud. And then I look at Hailey, who it doesn't come easy for her, but she that doesn't stop her, and I think that, like someone once said to me, it's not Hailey who is like struggling emotionally, it's me, you know, and she's happy and she knows happiness only, and so I think that's a big perspective shift and change for me. And you know, they're the ones who kind of just push me forward and I know I have to do it and get through it and figure it out for them.

Jen: 23:44

That's beautiful. Sorry, I was muted. I was about to talk to you and I was still muted, but that's absolutely beautiful. What resources would you recommend to someone that's just at the beginning stages?

Michelle: 23:55

You found my community online. I guess, if you can find a community for if it's you or your child, for their specific diagnosis or disability, but if not, there's like so many resources. You know like if you just go online you'll find your people. You know, I met extra lucky moms, who is another organization that I really connected with, and for me they were really local in New York and New Jersey, actually just New Jersey. So you know, I was able to find people and connect with them and then actually meet them in real life. So you know, you just find your people and then you connect and you know, I think, just looking, you know it's out there if you look hard enough.

Jen: 24:38

Yeah, and there's. You know there's other podcasts, like Once Upon a Gene. She's actually oh my gosh, she's up in Seattle. She's not far from me. I live down by Portland. She's got an incredible resource for all kinds of people. I love it.

Michelle: 24:53

She actually is one of the first people I connected with, like way back. Oh, that's great. Yeah, we go to school. Yeah, she's a great resource as well.

Jen: 25:02

Well, and I think the other one you mentioned to me is find your rare. That's another good one.

Michelle: 25:07

We like we go way back too. I feel like when I was just like looking and I remember searching the keyword rare, I was like am I going to find like rare because it's so rare? And then I found Christine and I was like, oh my gosh, like she just was so down to earth and amazing. So you know and like, and now we connected and it's just like we get life in a different way. So it's just so wonderful all the resources and tools out there.

Jen: 25:33

Yeah, exactly, and you know I've mentioned this in a couple other podcast episodes, but a lot of people don't realize that I was actually the aunt of a rare child. She was terminal and she passed away at the age of three, and so that's part of why I reach out to people like you, because I wanna hear your journey too and I get you, even though my journey is so different. I've seen the other side as well and I know that you have an incredible story to share and I want people to hear it.

Michelle: 26:01

Thank you for sharing that. You know, because we all have our journeys and our experiences and it's important that you know. Other people know about them and you know, can understand that it's not always so easy for everybody.

Jen: 26:17

Absolutely. We all have a journey that is sometimes seen and sometimes very unseen as well. Where is the best place for people to find and follow you?

Michelle: 26:27

Well, I'm MamaBearForRare. I'm very active on Instagram. I love Instagram. I feel like that was kind of where my community really started and I'm pretty much on every social platform and my blog is MamaBearForRarecom. So, you know, sometimes they can find a new blog or just like other resources that I love inclusive brands that I really love, that I know that they promote inclusivity, so just stuff like that and I just feel like it's just a place for people to visit so they feel a little bit less alone.

Jen: 26:59

And are there some other podcasts that you've been on that we can also point people to listen to Mentioned Once Upon a Gene.

Michelle: 27:06

I have a little debut on that. I was so appreciative of Effy to include me. Find your Bear I was also on, so, yeah, there's just been like a few I've been on and I really appreciate it just being able to share that you know and talk to so many other people, and now I'm on yours, which is amazing. I'm a spoony sister, so I was so appreciative that you, you know, asked me to join and you know. Thank you for letting me share my story.

Jen: 27:32

Absolutely. Is there anything that I have not asked you that we need to talk about?

Michelle: 27:37

when it comes to Hailey and your life, I guess, just like for anyone out there who feels like there's nothing out there for you or you just feel isolated and alone. You're not, you have so many people. My inbox is always open. If you want to call me, you can do that Like, and I know that I'm not. I'm just one of the few that you know, I'm sorry, one of the many in this book that you could reach out to. So there's a really beautiful community out there.

Jen: 28:06

Absolutely is, and I'll be sure to get all the links from you to share in the show notes for people. We'll direct them to your blog and the episodes you've been in and all the fun things. Well, thanks for joining and while, spoonie sisters, until next time, don't forget your spoon.