Subscribe
Share
Share
Embed
We explore the unique lives and work of our community's leaders, professionals, and inspirational members--conversations about the challenges, courage, and dedication that are pillars of this community. We share new perspectives, insights, and knowledge about the rare disease that impacts our daily lives and guides our individual journeys.
The National MPS Society exists to cure, support and advocate for MPS and ML.
[00:00:00] Jason Madison: Hello, my name is Jason Madison, and I would like to welcome you to this month's episode of the National NPSs Society's Our Voices Podcast For this second season, our conversations we'll focus on the many unmet needs and areas that could use more support in our N P S and ML community.
[00:00:55] One of those unmet needs is the lack of widespread knowledgeable physicians in rare disorders such as NPSs and ml. This lack of knowledge can lead to parents and patients with rare disorders finding . Their concerns dismissed, often leading to missed opportunities for proper treatments. Today I'll be speaking with a pediatric orthopedic surgeon who specializes in skeletal dysplasia, metabolic bone disease, spinal deformity, and genetics.
[00:01:23] The surgeon is also an MPS parent who went through the process of shock. Uncertainty and fear that often comes. Within the initial MPS and ML diagnosis, we had discussed how this man and his family navigated the challenges of life and career while trying to care for the specialized needs of a child with a rare life-threatening disease.
[00:01:43] We'll also talk about how to provide a non-affected sibling, a sense of having their own life, while also feeling like a helpful part of a family of a child with a rare disorder. And finally, we will touch on the grief that comes when a child passes and how their legacy can inspire action and research that provides hope and groundbreaking treatments for future generations.
[00:02:04] It is my honor and privilege to introduce to you Dr. Klain White. Hello, Dr. Klain White. How are you doing today?
[00:02:11] Klane White: Jason. Thanks for having me.
[00:02:14] Jason Madison: Thanks for coming. I I remember the first time that I remember actually meeting you was at a conference and it was right before I was About to move to Seattle and I he went up there to do a presentation and I was like, oh, this guy's in Seattle. I gotta go up and talk to him. So I ran up to you and made sure to introduce myself and was like, I'm gonna be coming seeing you at the University of Washington, so be prepared. So that was great. Yeah. So that was great and it did help because I know at the time my particular geneticist out there was on a, on the road to retirement, so I was really happy to have someone who was familiar with the disorder that was going through to at least beat a center for my care at University of Washington.
[00:02:55] I'm highly appreciative of the time and your willingness to talk to me at that conference. So I just wanted to give you an opportunity first to tell me exactly what you specialize. Like I, I threw out a bunch of words in the introduction, but what do those actually mean
[00:03:10] Klane White: fantastic. I think first of all, I just wanna say, I think we're all, we all loathe the members of the NPSs Society, or community, but at the same by time at the, I should say on the flip side, we've made so many friends and it's just such a fantastic group of people, and.
[00:03:26] It's one of those clubs that you're happy to be part of, but maybe you wish you hadn't been. But
[00:03:30] Jason Madison: Yeah it's one of those, yeah, you don't wish you were part of the club, but boy you're certainly glad that it's there if you need it, a
[00:03:37] Klane White: Exactly. And to your question, so I, I'm a pediatric orthopedic surgeon, so my background in training is an orthopedic surgery, and then I did a, an extra year in pediatric orthopedics which is the way that orthopedist train as opposed to pediatricians who do three years of pediatrics and then maybe do, several years of genetics or whatever.
[00:03:57] It's a little bit of a different road. My, I guess expertise, for lack of a better term is in genetic disorders of bone. Children who have genetic disorders that affect the growth of the information of their bone, the deformities that become of that.
[00:04:12] And in the end, some of the the functional limitations that result from these bone dis and bone and joint disorders.
[00:04:19] Jason Madison: That definitely, does affect a lot of NPS disorders and ml as well as a range of
[00:04:24] Klane White: absolutely. They're the quintessential skeletal dysplasia, aside from say, aplasia. Yeah.
[00:04:30] Jason Madison: before you knew of your daughter's diagnosis, what did you know about MPS disorders?
[00:04:39] Klane White: I hate to say it, but maybe I read, a couple lines on it during our, second year of medical school when we learn about biochemistry and or, disease pathophysiology. But really it's not something that's taught in in medical training for the most part.
[00:04:55] When I first learned about it, I was a junior resident. I hadn't had much exposure to. Pediatric orthopedics at time, which is clearly the field where most of these patients live.
[00:05:07] Jason Madison: So before the diagnosis, you you had, you, you were married, right? And you had one daughter already? So what was about Susanna? Did you start to notice and how old
[00:05:20] Klane White: Yeah. It's interesting and I actually, because I, I talked to my wife Amy about this ahead of time, just, to help. It's been a while now. It's, it's been 24 years, 25 years maybe since she was born in 99. It is interesting because our older daughter, Madeline she was just this stocky, strong, very kind of firm child
[00:05:43] Jason Madison: And Madeline
[00:05:44] Klane White: older sister.
[00:05:47]
[00:05:47] Klane White: And Madeline was just about two years of age when Susanna was born. And Amy was really persistent about this.
[00:05:53] She goes, and I, I blew her off a little bit in the beginning. She's something's just not right. She's, she seemed a little more fragile. She, it was just this weird mother's intuition, which you hear about a lot, right? It, and One thing I've learned from this rollercoaster is that never ever doubt mother's intuition.
[00:06:13] So as a physician, that's something actually I teach our trainees. If a mother is saying there's something wrong with my child, you are obligated to look into it. But.
[00:06:22] Jason Madison: I I think my mother will also agree
[00:06:24] Klane White: It's very funny. It's ubiquitous. It's she just seemed a little, lower, less, a little more fragile. I don't know. And then she did have this bump on her back, which is, in hindsight what we call patho pneumonic, it's it's, it's a finding that is almost solely associated with, particularly Hurler syndrome, but NPS disorders in general.
[00:06:44] And so that, that was the, that was what sort of brought it to our attention. And we brought her, so I, again, I was an orthopedic resident at the time and I happened to be doing research at at the Children's Hospital in San Diego. And, I happened to be working at an institution, which is really probably one of the preeminent pediatric orthopedic institutions in the country.
[00:07:03] I brought her to one of my faculty, mentors, and he goes, yeah I'm not sure what this is it's not right. There's something weird going on here. Based on X-rays, she had both hip dysplasia and this spinal deformity. He referred her to genetics. And there again, we're seeing one of the guys who wrote literally one of the textbooks on identification of genetic disorders based on what we call Dysmorphology.
[00:07:25] When he looked at her and she goes, yeah, she kinda looks like you guys, and and. In hindsight, again, NPS disorders, they're progressive, right? So babies don't really show those sort of outward appearances that we associate with NPS disorders, especially, at this point, she was only two or three months of age, so
[00:07:44] Jason Madison: How did mps first come into the conversation when you brought her? Because you were saying you didn't know
[00:07:49] Klane White: Yeah at the time, we didn't, the internet was pretty scanned. We had to dial up, with the screeching noise and telephone connection. And really I had to go to textbooks and so I got out, pediatric textbooks, went to the library and so really there were only a couple of things that could cause this, and, Two of them were MPS related, mochi syndrome and Hurler Syndrome, and the third was Achondroplasia.
[00:08:11] We knew it was probably, at least in my mind, I was supe suspicious. It was one of these three things and we were pretty much reassured this was not achondroplasia for sure. And then we were pretty much talked outta of the fact that it could be nps and the genetic said so why don't you just come back in six months?
[00:08:27] We'll talk again. We can test her if you'd like, sort of thing. And we're like, yeah, let's, why not? We wanna know.
[00:08:34] Jason Madison: Exactly. But he still showed some doubt
[00:08:37] Klane White: Yeah, it was a laissez, fair attitude towards the whole thing and not in a, in a bad way. He just wasn't that worried. This was of course, around she was born in April. So this was about October. And by the time, at that time, by the time we got testing back, it was probably another six weeks later.
[00:08:53] Literally two days before Christmas I was driving the car with the girls in the backseat. I was in a research year, so I, I had a little extra time on my hand we I, the geneticist called me while I was driving the phone. I did have a cell phone, it wasn't that long ago.
[00:09:07] And and so I got this diagnosis over phone while I was driving down the freeway and had to go home and break the news to Amy.
[00:09:16] Jason Madison: Wow. So that must have been, in some ways, it might have been nice to reaffirm what. You knew was wrong, but at the same time you don't want to hear that. After that happened, did you and Amy come up with a plan of what you're going to do as far as treatment?
[00:09:35] Because I know you were still going doing residency and that MO means moving around a lot. In doing all that did you have a plan or how did you figure out what to do?
[00:09:47] Klane White: It was everyone has their own course and I have to actually correct myself. I was not on research at this time. I dunno why I was driving the kids in the middle of the afternoon. Cuz I, maybe I was post-call or something, but Yeah so actually I was in the middle of actual clinical residency, which means usually you don't have much time to do much of anything.
[00:10:03] Basically in the end we were fortunate enough that we had a great community around us, and as we spoke about at the beginning, the NPS community is pretty tight knit and was pretty amazing for us. I did have ethernet connections at work and so I could do literature searches there.
[00:10:18] And funny enough, my mother-in-law worked at children's Hospital in Orange County and worked with one of the hematologists oncologist, one of the bone marrow transplant docs. And who said, oh yeah children with Hurler syndrome get bone marrow transplants and they seem to do pretty well with it.
[00:10:32] This is at the time when. Al Doza was being developed by Amal Kki. It was still in clinical trials. I somehow reached him. I e I think I emailed him. I got his email address through the internet and, he was extraordinarily generous with his time and So we had a long conversation and he said, I'm developing this drug, but you know what, for your daughter, bone marrow transplant's, the best thing for her.
[00:10:54] And of course now we refer to stem cell transplant. This is just when cord bloods were coming onto the scene. The advice given to me at the time was, you wanna go to the center that does the most of these if you're having a heart surgery, you wanna go to the heart surgeon with the most experience, right?
[00:11:08] We, of course, then we contacted the folks at the University of Minnesota and with probably within three weeks, we were in Minneapolis in the middle of the winter doing workup and evaluation with that group. And by April she had a a bone marrow match. Just before her first birthday, had her first bone marrow transplant.
[00:11:29] Jason Madison: Did you see any improvement
[00:11:30] Klane White: her story was not so straightforward she did not her, so they were doing a an experimental protocol, which was supposed to reduce some of the side effects of the transplant. But what it turned out was that, Protocol resulted in kids not in grafting. So I think almost all the kids who had that protocol did not in graft on the first go round.
[00:11:50] So she had to have a second bone marrow transplant the following October. This was a time where we had to lean on a lot of people. To help us through. And so unfortunately as a resident I had pretty good health insurance,
[00:12:05] but we, people were. Who we barely knew were giving us airline vouchers, miles, for their flights. And I was flying back and forth almost every other weekend from San Diego to Minneapolis while she was in the hospital. That was a challenging time for sure.
[00:12:24] Jason Madison: would you suggest that other families not feel bad, but to reach out for support when they need
[00:12:30] Klane White: I would take help from anyone and everyone who is willing to offer. We, we, and I think you, you're interested in how we supported our older daughter and, The truth of the matter is we were relying on somewhat relative strangers. For much of the support that we had.
[00:12:48] We were in Minneapolis, we knew no one in Minneapolis. We lived in a dorm, so we made friends with some of the college students who ended up, taking care of Madeline during the day when we were at the hospital. And now one of those college students ended up becoming a bone marrow transplant nurse.
[00:13:05] And because of her experience and now is still a really good family friend of ours. A lot of these relationships.
[00:13:13] Jason Madison: Yeah. My experience with Minneapolis is, being from the Northeast, I go there, everybody's alarmingly nice and pleasant. Very good people up there and I'm glad that you had that opportunity to meet the, and that's the thing, in these awful situations, sometimes you do meet, these wonderful people to have lifelong relationships with, and that's really an important part of that.
[00:13:37] And I know you just brought up Madeline, and I know that is a concern for a lot of parents. And how they interact with the non-affected sibling cuz there could be a fear that sometimes their lives can be overshadowed by the needs of their affected sibling or siblings.
[00:13:56] Do you have any advice or thoughts about what parents can do in that situation? Cause it seems like you and Amy did a, a good job working with Madeline to help her through that
[00:14:08] Klane White: Yeah. It's interesting how that worked out. We, as I have already mentioned we let people into our lives who we barely knew. Who basically would help keep her busy and felt like she was getting all the attention that she ever wanted in her life. We had friends of friends, we had volunteers from the hospital.
[00:14:26] We had to trust other people that we really. Barely knew. And we also had the trust of a lot of close family and friends, my family, Amy's family would come out to Minneapolis or at some point we, when we made it back to San Diego, We had family there, they would basically make her life an adventure.
[00:14:45] They would take her out on, just on the campus bus, around the University of Minnesota campus. It was a free bus ride, and they would just go and ride the bus for the day. And they'd run into parade and they'd go camping, like pseudo camping for the day. For her life was actually , quite an adventure.
[00:15:03] If she asked her, it was relatively blissful. , but the other part of this is that I think people should not be afraid to bring siblings into the hospital. We brought her in every, almost every day. And we made it a safe and a fun space for her.
[00:15:17] We celebrated almost every imaginable holiday and every birthday at least once in the hospital. And, brought in balloons and cake and, music, whatever, that kind of stuff. And even when Susanna was extremely sick we tried to normalize it as much as possible and we would engage her, but engage her at her level.
[00:15:38] That, as an example for that, when Susanna lost her hair during transplant, I. Lo behold, Susanna looked like all of Madeline's bald dolls. And so we have these, we have this picture of Susanna with all that Madeline lined up Susanna with all her bald dolls, and then we took a picture of it, and just things like that.
[00:15:57] We, it is just try to normalize the process as much as possible.
[00:16:02] Jason Madison: Yeah. Madeline felt like she was still a part of the family helping her sister, but still had an opportunity to live her own life and do that. That's pretty incredible. And I, hope that helps a lot of other parents who might be struggling with that issue. So I know eventually your daughter Susanna did pass,
[00:16:25] do you mind expressing or sharing how you and your family dealt with the grief?
[00:16:29] Klane White: That's fine. I'm happy to share, we, I, but in general, I would say that we weren't very public about our grief. We were very private about our grief. I'm happy to share it now, but at the time, the three of us became very tight knit. We celebrated Susanna.
[00:16:44] We continue to celebrate Susanna, her birthdays, now I'm in Denver, but we are going to go back every summer. She died on July 24th, and we will be there to visit her every July 24th. Madeline's flying out. She lives in England, now we're flying her out from England.
[00:17:00] This is our routine. When we're in Seattle, we would decorate her grave site every holiday and, bring her flowers and put balloons and bring cakes and, Susanna was such a joy for us.
[00:17:13] Such a personality. That's how we want to remember her, and that's what we do. And at the time specifically, we leaned on everyone who knew and loved Susanna, , because she was just such a array of sunshine. She touched so many lives and another sort of byproduct of her.
[00:17:32] Of Susanna's being in our lives that we, her therapists, her teachers, still our friends, now, two 15 years later with a lot of these people, we still communicate with them regularly. She's with us every day and And that's, I think that's the only way we could really, do that.
[00:17:50] And just one other thing is just and not everyone can do this, but we were fortunate enough to be in a position where we could give back in her honor, we started a small foundation. We raised money for the local children's hospital. put, in her name.
[00:18:02] And it's. Focus was to raise money to provide support for other children with chronic life-threatening diseases. And so we felt like that was a very meaningful place to, to exert our efforts.
[00:18:15] Jason Madison: So with that grief, you turned it, tried to work best as more of a celebration of what she was able to enrich your lives and the lives of those around her in a short time she was here. That's pretty awesome. And I know that's also helped inspire you and your practice because you've had, on both sides, you've been a parent. Who's had to deal with doctors who might not be necessarily listening to what you're saying, but you've also a doctor who has to deal with talking to parents about different treatment options and, sometimes it's good news and sometimes it's bad. Do you think your experiences as a parent has helped you as a physician dealing with patients and family families?
[00:19:42] Klane White: Oh yeah, very much as I mentioned earlier, the mother's intuition is just one aspect of that. I think really engaging families in a way that's approachable and meaningful. And, I think it's easy for physicians to get entrenched in what they think they know as opposed to what they might really know.
[00:20:06] We make a lot of decisions based on experience. But if you don't have experience with this order, then you're stuck leaning on other experiences, which may or may not be applicable to, the MPS condition. And in the end, you need to be able to express that, that empathy and that understanding of what they're going through and.
[00:20:26] And, listening and finding out what their real concerns are. And quite honestly, maybe sometimes there's a misunderstanding on the family side that then you have to be very gracefully, redirect and explain why you know that's not correct or, I'll be honest, I've, families will tell, so I, if I take care of a child who has a disorder that I'm not very.
[00:20:47] Knowledgeable about or experience? The first thing you know, especially though I take care of a lot of kids with rare diseases, and I will say, so what are other parents telling you about this? What are you reading on the internet? Tell me what you've researched. I, educate me. Every nps.
[00:21:02] Patient or family knows that their job is to educate their physicians. And I, I accept that that pupillage is, so to speak for other conditions that I'm less knowledgeable about.
[00:21:15] Jason Madison: In my own personal experience, I've had physicians that don't know and some of 'em just don't listen, and it's so frustrating and I've had other physicians who want to learn, and I know from a patient perspective how much more I appreciate. Even if you don't know listening and trying to learn. And that makes it so much easier.
[00:21:37] And I've also learned as a patient, you can fire your doctor and that's I'll bring Denise dangle up cause I know she touched posts of our lives. But that was one thing that she always told me that really has stuck with me and I try to pass down is, you can fire your doctor.
[00:21:52] I don't. Always like to, but don't feel bad about it if you're concerned about their plan of care. And I hope you haven't gotten fired, but from a pro professional standpoint, what would your reaction be to if a parent decided to go to
[00:22:10] Klane White: I will say I've had many parents get second opinions based on my first opinion. I don't take that personally. And I'm very Clear and transparent about the fact that if you wanna get another opinion, please let me know and let's share what you learned and let's talk about it.
[00:22:27] And if your physician is upset that you got a second opinion, then you probably shouldn't be with that physician in the first place. don't feel like your physician is listening, Doctors are dime a dozen. There's thousands of us out there, right? So if you're not happy, go somewhere else.
[00:22:46] It's don't, you can't feel bad about that. It's like anything, if I don't like their service at a restaurant, I'm gonna go to a different restaurant. It's no different. Obviously the stakes are much higher, but, which is you could argue is even more reason to say, you know what, I'm moving on.
[00:23:01] And you don't have to be rude about it. You don't have to be. Vindictive about it. Just say, you know what I just don't feel like we're connecting and I'm gonna move on.
[00:23:08] Jason Madison: Dr. White, I think you're worth more than a dime, but doesn't do you have any maybe quick advice to a parent that might feel guilty about a decision they made in the care of their child that might not have worked out the way that they had hoped?
[00:23:23] Klane White: I've done that. When we moved to Seattle, we were convinced that we should change the medication regimen for our daughter's post transplant immunosuppression and. Quite honestly I think that may have been what led to her death. And we weren't really on board with it, but in the end, we decided that we were gonna try and accommodate that physician's opinion, even though we weren't totally comfortable with it.
[00:23:48] And we live with that decision now. And I don't know if there's any way you can undo that, that you can't. And so we all make the best decisions we can in the time that we have and under the circumstances that we have. These children can be pretty fragile and it's you just do the best you can and you have to understand that and be able to know that you made the best choice possible.
[00:24:13] Jason Madison: And some of these things you cannot control. So you can't take blame for things that you don't know. And I think sometimes that's really hard for parents, but I appreciate you sharing that with me and to our audience. So I did wanna bring up that, I do know that experience has helped you.
[00:24:33] Cause I actually saw a video from your days think out in Seattle where you were the doctor with the tiara. Yeah. And I saw that video of wow, that's a whole nother side of Dr. White that I've never seen before. And that's so wonderful. And I saw the joy that you brought to your patient and their family.
[00:24:52] And I think that's, Something that you might not have considered doing if you didn't have that experience with your own daughter. And seeing how doctors' actions can have such a positive impact on
[00:25:05] Klane White: Yeah dress up was certainly a big part of Susanna's life. She was always putting on some kind of tutu or tiara or something or another. definitely some inspiration there. But you can't you can't take yourself too seriously. So we, these families are in the hospital for months and months on end, which in that case was the situation.
[00:25:26] And yeah, it was I love those experiences. Excuse me.
[00:25:29] Jason Madison: That's wonderful. So is there any before we go, is there any hopes or. Things that you would like to see in the future, or you think that's gonna happen within the NPS and ML community? From either your perspective in orthopedics or just in general?
[00:25:43] Klane White: There's, it's always Hope, care cure, right?
[00:25:46] Jason Madison: Yeah.
[00:25:46] Klane White: It's a long road. If you asked me in the year 2000, if we were gonna have gene therapy by 2010, I would've said yes, definitely. And we still don't have it. But, the technologies are advancing all the time and we're definitely close with some industry work in gene therapy and some other non-industry sponsored research.
[00:26:06] I hope for the day where, we can make this diagnosis in a timely fashion, perhaps even prenatally or even preconception. Preconception and so that we, we don't have to worry about it anymore. Again, it's a club that I am very proud to be part of, but I think we're okay with, not inviting new members.
[00:26:25] If we don't have to.
[00:26:27] Jason Madison: But if you are a member of the club and if they see you at a conference or anything do you think would you be open to have conversations with the families or if there's a listener who might wanna just reach out to you cuz they're, they don't necessarily, might not have the resources or don't know where to turn.
[00:26:44] Is that something that, you're open
[00:26:47] Klane White: I guess I was open to you, so I guess I better keep the door open else, right?
[00:26:52] My email is freely available. I'm always happy to talk with families. O oftentimes what happens is we end up setting a phone, setting up a phone call, and if then families wanna share x-rays, whatever, and that's always free, right?
[00:27:03] If I have to provide care in my institution, of course then the institution wants to charge and all that kinda stuff. But I'm more than happy to do that. And quite honestly I'm pretty well connected within the pediatric orthopedic community nationally. And so I can always help you find someone locally who I think, could probably help guide your care and at least, facilitate care.
[00:27:22] At the very least, I.
[00:27:24] Jason Madison: And that's an important thing about coming to this the community is we are all open to talking with each other and sharing information. Listeners can also just contact the National NPSs Society and they can contact with you Dr.
[00:27:37] White. And it's always great to see you in person. So if you're at a conference, definitely, take that opportunity to introduce yourself, I wanted to say thank you very much for taking the time out of your busy schedule for talking with us today. And I think it was a good conversation and I think it'll be very helpful for people who are at a different stage in their journey to hear.
[00:27:59] Your own particular story. So thank you very much,
[00:28:01] Klane White: it's been my pleasure. And thank you for doing this podcast and thanks to all the staff at the National NPS Society for all the work they do every day to make, all our families' lives better
[00:28:14] Jason Madison: yeah. They do they do an awful lot, so thank you very much.