Family Stories

Episode 14: Family Stories

Having a child with SCN2A can have a significant impact on the whole family. To mark International SCN2A Awareness Day on February 24th we interviewed three parents about having a child with SCN2A.

Hosted by Kris Pierce and David Cunnington, parents of Will, who has SCN2A.

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Audio Timeline / Chapters:

  • 00:00 – 00:47 Introduction
  • 00:47 – 22:02 Angie
  • 22:02 – 35:27 Nicolas
  • 35:27 – 46:52 Kris
  • 46:52 – 48:29 Summary

Guest interviews:

Angie Auldrigde is a mother of 3 children, Mark, Jillian and Luke. Angie writes a blog called Mighty and the Bean which provides great insights to the ups and downs of having a child with special needs. Angie has an innate ability to write what we are all thinking and feeling in a very eloquent way.

Nicolas Lorente is the father of Erik, who has SCN2A. Nicolas is passionate about ensuring that future treatments for SCN2A are available to families in Europe. This passion led Nicolas to found SCN2A Europe and moderate a Facebook group for European families affected by SCN2A.

Regular hosts:

Ms Kris Pierce RN MHSc MWellness, is a rare disease advocate and mother to Will who has SCN2A. Kris has held a range of board, project management, advocate and consumer representative roles and has been instrumental in working with local, state and federal governments to secure funding for multi-million dollar projects. Kris is highly skilled in building teams to work together collaboratively and is a co-founder of Genetic Epilepsy Team Australia (GETA) and SCN2A Australia, and a RARE Global Advocacy Leadership Council member.

Follow Kris on LinkedIn or Twitter.

Dr David Cunnington is a sleep physician and father to Will who has SCN2A. He is director of Melbourne Sleep Disorders Centre, and co-founder and contributor to SleepHub. David trained in sleep medicine both in Australia and at Harvard Medical School in the United States. David’s clinical practice covers all areas of sleep medicine and he is actively involved in training health professionals in sleep. David is a regular commentator on sleep, both in traditional and social media.
Follow David’s posts on sleep on Facebook or Twitter

Transcript:

Welcome to SCN2A Insights bringing you the latest research and clinical updates on SCN2A and genetic epilepsy from around the world.

Dr. David Cunnington: Welcome to this episode of SCN2A Insights. I’m David Cunnington.

Ms. Kris Pierce: And I’m Kris Pierce.

Dr. David Cunnington: And in this episode, you can hear from some families about the impact that SCN2A has had on them, why are featuring that in this episode, Kris?

Ms. Kris Pierce: February 24th is International SCN2A Awareness Day. And around the globe SCN2A groups, their families and their supporters are raising awareness about SCNA and their related disorders. We spoke to a few parents from around the world in order to hear about their families, how SCN2A has impacted them and also their hopes for the future.

Dr. David Cunnington: We interviewed Angie Auldridge from the United States, Nicolas Lorente from Germany in Europe and I interviewed you as well from Melbourne in Australia.

Ms. Kris Pierce: Angie she resides in America as you said. She’s married to Isaac and has three children: Mark, Jillian and Luke. And she writes her blog called Mighty and the Bean which provides great insights into the ups and downs of having a child with special needs. And Angie has this innate ability to write about what we’re all thinking and feeling in a very eloquent way. Make sure you follow her. So welcome Angie.

Angie Auldridge: Thank you so much for having me. I am a mom to three children: Jillian, Mark and Luke. Mark, our middle son, he’s six-and-a-half and he was diagnosed with SCN2A in August of 2015, followed about six months after his autism diagnosis.

So, in the beginning, Mark had a lot of delays and just developmentally we knew something was off with him. We kind of we’re suspecting autism and we began getting evaluation through the school system and then later through the Kennedy Krieger Institute in Baltimore, Maryland. And we were able to get him a diagnosis of autism at 20 months of age because he was missing all these physical milestones that really got our attention. He didn’t walk until he was almost two. There was no speech, no speech sound. He was just delayed all around. I would say that global developmental delay was our first diagnosis.

And then we received the autism diagnosis in early 2015 but there was still something a little bit off. He wasn’t walking. He had a very low tone, sort of that floppy baby. And so, they were concerned that there may be something else going on. So, we had our first round of genetic testing. He went through and they test him for just the baseline type things. I think Prader-Willi, Fragile X, there were some other things, Angelman Syndrome and all of that came back negative. And then they said, they asked us, approached us if we would want to do Whole Exome Sequencing. And so, we agreed. And so, my husband and myself and Mark, we’re all tested. And about six months later, it yielded the results and it came back that he had an SCN2A missense mutation that was a pathogenic variant.

And so, that we knew that we had our answer to what we were seeing and have helped us put all the puzzle pieces together that it wasn’t just autism. It really helped to explain a lot of the delays and it helped to further explain as Mark has gotten older and just a little bit caught in the pyramid and things that we’re seeing.

Ms. Kris Pierce: Since you’ve got that diagnosis, what has that meant for you?

Angie Auldridge: So, one of the biggest things when we received the diagnosis, as I mentioned, really helped us make sense of the whole puzzle. So, in addition to not walking when he should have been walking and not talking, all those other things, Mark was also having complications with his GI system. We have dealt with a lot of GI distress and we were seeing a specialist for that. We noticed that his ankles were pronating. So we were seeing a lot of physical characteristics of clinical manifestations.

And so, once we got the diagnosis it was just very helpful to be connected to the patient community because then we could connect with other families with SCN2A and understand that a lot of what we’re seeing, other people were seeing in their kid and it really helped us to connect and identify and understand as you’re trying to tease out what is just your child and how they are and what is SCN2A and what are features of autism. And so, I think it really helped us figure out and tease out what to do from there.

And it helped us connect with other parents who had children with SCN2A and they were able to suggest– people that who were further along in the journey were able to suggest us different therapies to try. It was suggested that we give craniosacral therapy a try. Other people suggested physical therapy, horseback riding. There are lots of therapeutic things that other children with SCN2A were benefiting from and particular OT techniques. They were all really helpful and suggestions to help us kind of guide in the right direction. Because with autism, it’s very broad and sometimes it’s the competence of all the other things that you may be dealing with when a child has a genetic condition that has other features in addition to all the sensory challenges and all the neurological concerns that come with autism.

Ms. Kris Pierce: The power of connecting with other families is really evident. Will didn’t get his diagnosis till he was 14 so we didn’t have that connection. But once have it, you know like you said all the pieces sort of fall into place. And you talk to other parents and you can sort of start teasing out what is SCN2A, what is just your child and start addressing some of those issues. So what are some challenges that you’re facing with Mark?

Angie Auldridge: Some of the initial challenges were just being able to access services and getting them paid for through insurance. And then also having the appropriate care and support in the school system, and I know a lot of parents will really resonate with that. I think in the very beginning, we were told that Mark would benefit from 40 hours a week of ABA, Applied Behavior Analysis therapy and that he really would benefit from weekly speech and OT and PT sessions. These were all things recommended to us. And of course, you turn around and go to the school system and they don’t offer that level of intense service. So based on the state where we live.

And so, it became on-us to be able to figure out how to provide it by private insurance. And my insurance company did not cover habilitative services and so, I had to learn very quickly what that meant and that meant rehabilitative is when there was still there, you lost it and then you have to get it back. Well, the insurance company will pay for that. However, they would not pay for habilitative because that meant that the skills were never there in the first place and to acquire the skills take a lot more therapy hours and time and money. And that was something that our insurance did not cover.

And so, I had to scramble and figure out how to purchase an insurance plan for Mark which is not that simple. So, once we did get coverage for him, we were able to kind of get going but that took several months before I could get everything in place. And meanwhile, we’re worrying because you know that early intervention window, the earlier that you intervene and provide services, the better. So, there’s a lot of stress in the beginning about getting his services set up and going and covered. And of course, it’s expensive so no one can really afford that out of pocket so we really had to rely on the insurance.

And then from there, it was trying to juggle all the things. And so that meant I have been able to work full-time and at that time, we only have two kids and now we have three. And it was trying to figure out how to get everybody to where they needed to go when they need to go and how to get Mark to where he needed to be. And so, it really enlisted my entire family. My mom, my dad, my sister, her boyfriend, even sometimes we’d call on the neighbors. We used our small army to get Mark to where he needed to go and for two years, we drove him an hour and a half away for daily therapy because we live in a rural area in our state and there really were no service providers that could provide that level of care for him.

And then as time has gone on and we have transitioned into public school, you know it’s really become a challenge to make sure that Mark is supported in the ways that he needs support. And so, a lot of programs that are designed around autism don’t necessarily address all of Mark’s unique needs. And so, we’ve had to be very vigilant with different things. So Mark is on a special diet and so we don’t allow him to have dairy or gluten which presents some problems when they do snacks and there were other types of crafts at school so we had some challenges there.

But he also, now you know for those that are listening that know anything about SCN2A, you know that seizures are often part of the clinical picture. And for Mark, thankfully, at least to our knowledge, he has not experienced the seizure. But we do know there are seizure triggers like getting overheated and that’s something that Mark struggles with. He can’t really sweat very well. And so, he can get overheated easily, of course, things like flashing lights, there’s just kind of common seizure triggers and so we try to make sure that the school system is aware of all of those concerns. And so that they take it seriously and they be careful around Mark with those things.

So, in terms of challenges I would say access to services, being able to find providers in our area and then always challenging to find a way to make it all happen when you’re living your life and you have a career and you have other children, so just trying to juggle all the plates.

Ms. Kris Pierce: It’s like a full-time job on top of your full-time job. We were talking yesterday we had a meeting at a local hospital and talking about what families with SCN2A or DEEs need and we’re saying literally it’s a full-time job managing the appointments and the therapies and on top of anything else that you do. So, you’re doing an amazing job, Angie.

Angie Auldridge: Thank you. Sometimes it doesn’t feel like it. But yeah, we try. We try to set it all in because I think in the beginning we definitely paced ourselves a bit and slowed things down. But in the very beginning, we were trying everything. We were putting him at aquatics therapy. We were looking into all kinds of different diets and supplements. And we just want to throw everything at him because we were desperate to see some type of progress because everything we were trying wasn’t working. So, we definitely paced ourselves as he’s gotten older.

Ms. Kris Pierce: I can relate to that. We have done that as Will got older as well. And you talked about seeing progression, what are you seeing in Mark?

Angie Auldridge: Sure. So, one of the big things that we see and he’s teaching us many lessons is that Mark is a very slow learner and so it takes many, many repetitions for him to get a skill. And so what he had taught us over time is that we just have to keep trying. I think it’s very easy to give up and decide, “You know what? After a year of this he’s not getting it, we’re not going to try anymore.” And that’s how I felt with straw drinking and I just posted something recently.

But he will be seven in May and he was still drinking out of a sippy cup and it was because of his low tone and his oral motor problems. He just could not figure out how to form his lips around the straw. And so, we worked with every cup under the sun. We worked with OTs and speech therapists. And one day, he just picked it up and he figured out how to purse his lips around the straw and he sucked. And we were just beside ourselves that you know we had no idea that he would be able to do it. I was convinced at that point that he would be on a sippy cup forever or we would have to figure out some other way for him to just safely drink out of an open cup. But he has shown us that he will get it, it’s just going to take a lot of time.

And so Mark has begun saying words. He speaks words kind of more like he will identify objects and he will– if you say to him, you know, he wants his iPad and you kind of say, you know, iPad. He’ll say, “iPad please.” you know sort of fill in blanks. But nothing is really functional yet. So we’re not to the point where he sort of has any type of conversation. I’m not sure if we’ll get there but we are learning that eventually, Mark will come around on some of these skills. And so, that is something… I know that the researchers mentioned in the previous conference that they could observe in mice that it took many, many trials for the mice to do a particular task and that slow learning is something that they were seeing. And I definitely resonate with that. We see that with Mark.

So, in terms of how he’s doing, he’s doing very well and he’s healthy. It just takes him a really long time to get it. He will get the things that he practices the most. And so I think that’s the lesson he’s taught is that repetition is key.

Ms. Kris Pierce: What are some of the hard things, Angie, I’ve seen you talk about some of the regressions, some of the challenges around seeing Mark get something and then perhaps a regression for whatever reason whether he’s sick or it’s just part of the condition? How do you manage that as a parent?

Angie Auldridge: One of the things that we make sure to do is celebrate every small inch stone that we meet and that includes things like straw drinking or being able to say the months of the year or his numbers because what will happen and especially in times of illness, he will regress. And so what that looks like is that he will stop talking. You won’t hear any words. He will maybe not sleep at night. He’ll be up a lot. He will be frustrated.

So, an example of that was over the holiday break when he wasn’t at school for a couple of weeks, you know, kids get bored and so during the day, he would be just done binging through his TV shows on Netflix and he would want a different program. But the problem is, is that Mark is set in routine and rigid and with what he likes and what he’s comfortable with, so if you try to show him a new show or some type of new music that you think he would like, he doesn’t like new stuff. So, even though he wants novel, he also – he doesn’t like novel so it’s this weird place where we end up.

And so when we have periods of regression, he gets really frustrated and there’s just a lot of crying and tantrums and so that’s what we see a lot is we see the loss of words. He’ll regress with toilet training so we are, I would say like 75% toilet trained but when we go through these periods where he will– and I won’t even necessarily call it a true regression. It’s not like we have to relearn a skill. He just stopped doing that skill if that makes sense.

Ms. Kris Pierce: Mm-hmm.

Angie Auldridge: He will stop talking. And it’s not like we have to do many repetitions to get him to talk again. He’ll just, once he’s feeling better physically, he’ll then just start talking again. So, it’s just interesting to kind of watch the plateaus and they seem to come pretty regularly. I mean every December around the holidays, we go through a rough patch. And it’s just, it kind of made me dread the holidays a bit because I know that Mark is going to be out of school, that’s going to be confusing, that’s going to go against the grain of his routine. And then it also spells also some other problems that he may encounter with that lack of routine. And usually, that’s accompanied by winter illnesses and all that kind of stuff.

So, those are probably the harder things we see. But he just– he surprises us so much. One day, he’ll show us he can do something pretty amazing that we didn’t think he could do. And then the next day, we’ll find him in a situation that doesn’t make any sense that he knows better. He’ll completely forget to try to go to the bathroom and he’ll have an accident where he’s – maybe he went two weeks for that one. So, that’s kind of the mystery of him as you see, it’s kind of unpredictable.

Ms. Kris Pierce: It’s a real joy to see you show all his inch stones as you said, and I think we all celebrate those in our SCN2A family when we see our kids take a step forward. You really feel the rejoice through our community when our kids take those steps forward. So it’s really great that you share those with the community, not only obviously with your small family, community but that everyone gets to see those steps forwards as well and celebrate them with you. What are your hopes, in terms of SCN2A, what are your hopes for the future?

Angie Auldridge: Of course, I have hopes for Mark and then the SCN2A as a whole. But my hopes for Mark were that he’s been able to functionally communicate not only his needs and wants but his thoughts, impressions, feelings in a meaningful way. And that he would be able to make progress. And of course, that we would have avoid seizures. We know that at any point, we could start to deal with that.

But my hope for the SCN2A community is that we continue marching and speeding towards a cure. I do believe that there are targeted treatments, we see that clinical trials coming. And my hope is that for the family that gets an SCN2A diagnosis when their baby is super tiny, that will be able to say, OK, and we have something we can do about it. Because it’s never comfortable or easy pill to swallow the first to be told, “Oh, we found the answer to what you’re looking for, for your child as to the reason why you’re seeing all these things. It’s SCN2A. There is no cure.

I mean I think we were blessed enough to have a diagnosis at that time that there was a community on Facebook that was gaining momentum. And I believe at that time, we were like among 80 families when we were diagnosed and now, it’s hundreds of families. So, the patient community has increased and so I’m hoping that because of that patient community and the connections and the interest with researchers that a cure whether that’s a medication or that’s gym therapy or whatever that looks like that there is a tangible answer for families when they receive the diagnosis. And my greatest hope is that for kids like Mark and like Will and the older kids and adults that there would be an intervention that is just as effective for them as it is for the infant that are diagnosed.

Ms. Kris Pierce: That’s a big one of us as our kids get older, are these treatments coming through going to be helpful for our kids. I mean of course we soldier on and we have the cape for treatments for anyone because we don’t want families to go through what we have but yeah, there is that hope there that any treatments or medications might help our older kids. I guess moving on from that, if you could stand in front of either researchers or clinicians, what is one thing that you challenge them to do?

Angie Auldridge: I think that a question that I have for researchers would be what can we do to speed research? My challenge to researchers would be how can you engage the patient the community in a way that allows us to feel like we have some type of not control but you know that we’re all working together. Because I think that sometimes as caregivers, we feel sort of out of control and helpless, and that we’re just waiting for science to come up with this sort of magical cure. And so, when you talk to researchers, you hear that things are you know years away, that clinical trials take years to develop, that there are a lot of hoops to jump through with the FDA. I know that there are some clauses with rare disease and there’s a loophole there.

But I think that I would like to see the researchers really engaged with patient and patient communities and be receptive to our input as far as what we’re seeing. And our children and how that could potentially help transform what they are seeing in the lab. But I think that for parents, who are in the busyness of caregiving, it’s really important to feel like we have a vested, not just interest but I guess our efforts, there is some type of effort that we can make that will contribute and help towards research. And that’s why, whenever there is any type of opportunities for research, I’m always interested to see if we can participate because it makes me feel like I’m doing something. That’s my thing is, what can we do? What’s the tangible thing that we can actually do to contribute towards speeding up research?

Ms. Kris Pierce: Just lastly, Angie, what advice would you give to a newly diagnosed SCN2A family?

Angie Auldridge: I think my biggest piece of advice would be to connect with family groups and to find other families either near you or on social media that also have SCN2A. And then find who everyone sees for– who are the good neurologists, who are the good doctors. Get connected because it takes a while to figure out who’s going to be part of your child’s medical team. And if you, can tap into the knowledge and the experience of other families who have been down the road ahead of you, and have worn out the bad neurologists or the ones that maybe are not necessarily bad but maybe the ones that aren’t well versed in SCN2A, I think you’re going to save yourself a lot of time and a lot of wasted time really trying to get connected.

So, I would suggest getting connected with other families and seeing who the good specialists are. And then also pay attention to what they’re seeing in older children so that you can be on the lookout for those types of things, other families are seeing you know, for instance, I know in the community, the SCN2A community we see a lot of issues around puberty.

So even though Mark is not there yet, I’m still paying attention to what, if there’s, you know do I need to be looking for early signs of puberty? Do I need to be cautious about hormones and what that’s going to look like? And so, even though every child is so unique and different, it’s still helpful to see what other people are facing further along in the journey. And so I think that if we can learn from the families who have gone before us, I think it’s going to save us a lot of time.

Ms. Kris Pierce: Thank you for joining us today. I really appreciate your time. You really explained well your journey and the hopes and the joys that you find with Mark and also some of the challenges and we really appreciate you sharing that with our community.

Angie Auldridge: Oh, thank you for the opportunity. I appreciate it.

Ms. Kris Pierce: Our next interview is with Nicolas Lorente from Germany who heads up SCN2A Europe. I was lucky enough to meet Nicolas in December 2018 here in Melbourne and we’ve remained in contact since providing support and advice to each other as we navigate supporting the families in our region. Nicolas is the father to Erik who has SCN2A. Tell us a little bit about Erik.

Nicolas Lorente: Well, thank you, Kris. Well, Erik is eight years old. He’s a very nice boy. He’s nonverbal but he’s able to communicate more or less at least the basic things with signs or cards or we parents probably are now able to understand him more or less what he’s trying to say or express just looking at his eyes. Physically, he’s almost OK for an eight years old boy. He sleeps pretty well, he eats well. He’s also nice to the people around him. He likes kindergarten. So actually, everything is perfect.

Ms. Kris Pierce: Does he have seizures?

Nicolas Lorente: Yes, he had seizures. He started having seizures at the age of five. And this of course was one of the biggest challenges let’s say because autism, which was diagnosed at the age of two more or less, was more or less manageable. But seizures of course brought some other challenges.

Ms. Kris Pierce: How did you first know that there is something wrong that led you to try and find out what might be happening?

Nicolas Lorente: Pregnancy was not easy because my… had to lie on the bed from month 5, 6 to month 8, 9 but it seems that it has nothing to do with these problems so the first six months were quite normal in all areas. And from months 8, 9, I could say he started not doing whatever a child should do.

Ms. Kris Pierce: Mm-hmm.

Nicolas Lorente: First, more in the movement and later, yeah, in all other areas.

Ms. Kris Pierce: Just go through how you got the diagnosis.

Nicolas Lorente: Yeah, it was quite difficult because the paediatrician we had was convinced that everything was OK. He was just a bit delayed like any other child. Some relatives are in the area of they have small children and they gave us a little bit of the alarm and then yeah. So at the age of two, more or less, then we were with experts and they told us it’s probably autism. So we started doing the things they do, normally do. And then as I said, at the age of five, suddenly, seizures started as well.

Dr. David Cunnington: In the healthcare system in Germany Nicolas, who do you interact with? So, where do the kids with autism and epilepsy fit? What sort of specialist do you see and what department?

Nicolas Lorente: It’s quite interesting because if you have autism or autism that your pediatrician thinks that your child has autism, you are more in the social pediatrician or psychiatry for children and all these areas, so quite far away from neurologists. And only when you have epilepsy, epilepsy is in the hands of the neuro paediatrician. And then you are more in contact with the neuro paediatrician. And the social paediatrician, says, “OK, now, it’s the neuropediatrician.” But of course, I see that there is no connection between the two and this is sometimes challenging we know that probably without seizures we would never have our genetic test and this is something that makes me worry a little bit.

Dr. David Cunnington: It’s certainly interesting and I’m sure as time goes by, that will be more evident that some people, some children with autism but without seizures actually have developmental epileptic encephalopathy but without epilepsy as a major focus.

Nicolas Lorente: Yeah, and this is something I want to push because I hear that 80% of autism comes from genetic mutations so I cannot really understand how this is not done almost automatically once you have diagnosed autism. Because in our case, it was clear that to know or not know was crucial. We started with Lamotrigine which was the typical antiepileptic that you take at the beginning but it was the wrong one because for our loss of function SCN2A mutation, sodium blockers is not the best solution. So, we changed to Keppra, things went a lot better.

Ms. Kris Pierce: And that’s really better within the SCN2A space to have that understanding of the loss of function or gain of function. And it’s good that you have that understanding in helping Erik. Having got your diagnosis how did that impact you as a father?

Nicolas Lorente: Yes, of course, we all want to have healthy children. I have a lot of fun with them. And all these special needs were not easy from the beginning. It’s… all these medical checks, all these special therapies, not to know what really happens, autism also being so abstract and so wide so it was challenging from the beginning. And the problem was we are more or less accepting autism than epilepsy started. It was another shock. So, it was not easy. Because suddenly the nights were very short and seizures normally occur in the morning, 5:00 to 7:00 in the morning. But very often I was realizing that– I didn’t want to have an average child with an average life and Erik gave it to me. Certainly very challenging but it also opens doors that would have remained closed.

Ms. Kris Pierce: And has it impacted your family?

Nicolas Lorente: Yes, such a situation brings you to the limits and you need to handle this somehow with yourself first but also with your wife, with the rest of the family. And it’s an ongoing process I mean it’s not easy. It takes time. So imagine it would probably take some years to find a good solution for everybody.

Ms. Kris Pierce: We’ve been down this road now for 18 years and we’re still navigating it Nicolas, so it’s a daily, weekly challenge to balance your child’s needs, your own needs and your partner’s needs and so it’s a challenge that we continue to navigate throughout life.

Nicolas Lorente: Yes, I fully– I’m fully aware and I try to keep this in mind and be conscious that it’s not easy for anybody and we all have to find compromises in this journey.

Dr. David Cunnington: So having met you, Nicolas, I’ve learned that one of your special skills is searching for things using Google, it’s one of your sorts of professional tools that you’re good at. So, have you been able to bring that skill to SCN2A and help to learn about both Erik and other things we can do in SCN2A?

Nicolas Lorente: I think it is. I think because I have been working searching the patents, well, you learn some skills which then you can use in Google or other areas and I’m really quick and really find whatever they want in the net. And of course, well, SCN2A to put SCN2A in Google is quite easy and quite fast and quiet– it works very fine because it’s very specific SCN2A. But yeah, I’m able to find everything I want on the net and I hope that is – so my job has helped a little bit Erik in terms of finding information, experts, other families or whatever.

Dr. David Cunnington: Like you say, you know it’s sometimes isn’t easy to find mechanistic information using something like Google. But sometimes the softer the information or you know, social information, how it impacts families, those type of things, that’s the bit that’s often doesn’t leave us readily or isn’t as readily accessible via Google.

Nicolas Lorente: Yes, of course, this is something that’s in Facebook, creating close groups and then going into very specific and very private situations than you find– what you find in the net is more of the general information or the expertise of people or the documentation that people are publishing. But of course, you need to go to more private areas in order to go into the details and specificities of SCN2A disorders.

Ms. Kris Pierce: And as we know, in the rare disease space like SCN2A, often the parents are the experts. And whilst we’re not medical practitioners, we’ve often experienced something that another parent is going through and you can share that and support them through that experience So, it’s very important those family connections.

Nicolas Lorente: Absolutely. I always say I mean we are the experts. And it doesn’t mean that I’m not criticizing the clinicians but it’s impossible but if you have 7,000 rare diseases, it’s impossible to be experts on any of these rare diseases. But that’s why it’s so important that patient representatives are invited to Congresses and conferences because they bring very, very special information to the clinicians and to the so-called experts. And I think the two cohabitates very nicely in the discussions and I think the majority of the places or Congresses, I’ve seen or I’m checking, I mean they are included. I think it’s a very interesting job or hobby.

Dr. David Cunnington: And you’re been proactive in starting SCN2A Europe, what was your motivation behind that.

Nicolas Lorente: Well, about more or less one year ago I was in Melbourne, I was doing my around the world alone and I decided to check if there was somebody in Melbourne is I had in mind there’s somebody in Australia. And I ended up having lunch with Will Pierce and the family. Later I was in Seattle at a conference of the family SCN2A foundation and I see how far both, the USA and Australia managed to go and I hope that’s something similar could happen also in Europe which will certainly help Erik but also all other European SCN2A children.

Dr. David Cunnington: Because there are challenges in different regions and I know when you met with us over lunch and that was really lovely to meet you when you came to our place for lunch. You highlighted there is some peculiarities of the medical research community and some of the regulatory things around that in Europe that we don’t face for example in Australia or aren’t faced in America.

Nicolas Lorente: The main challenges are two in Europe. First that we have these two levels Europe, the European level and on the country level. It’s not automatically the same. It’s not automatically recognized. So, you have the specific legislation, you have the rules, you have also the ways of work in which certainly different in Germany or in Spain. And secondly, the languages. We see this clearly that a lot of people not being good at English and of course, they remain very passive in the discussions or even request things in their native language. And of course, having so many languages in Europe it’s a big challenge. All these languages, all these different legislations make things especially in the cooperation more difficult. I think it’s getting better with time, so one of my goals is to make it even easier and make this cooperation also outside Europe and more possible or easier. And of course, to reach of families and get them well informed.

Ms. Kris Pierce: What are your hopes around SCN2A for both Erik and SCN2A families in Europe?

Nicolas Lorente: My hope is, of course, to have a clear vision. I don’t want to hear from any European body or agency or whatever that when something has been discovered, maybe in Australia, maybe in the US, that yeah, we need to wait. In Europe, we need to wait because you haven’t done this and you haven’t prepared that. And this is something I don’t want to hear. So that’s why I want to base the past so prepare everything, be aware of every single detail. Once something can be done, it can really be done for Erik but of course, we’re all European children.

I’m doing now the pre-training of the European who went to school which is something very interesting, very nice, it’s offered by the European Union for patient representatives really to get closer to what happens from the research until the medication, let’s say, And I see it’s really challenging. There are a lot of small details that you need to be sure that they are correct and more, I’m more convinced that somebody needs to be in front and really ask some questions to the right people. So that one is some partial maybe therapies, some partial solutions for some of the children also in Europe that can’t really get access to it.

Dr. David Cunnington: So thanks very much for your time and for the great work that you’re doing for families in Europe.

Nicolas Lorente: Thank you very much for the time and for the offer to share my experience with you.

Dr. David Cunnington: Our final interview was with you to give us some insights into SCN2A and your experience as a mother and the impact it’s had on our family. So tell me a bit about you and your family.

Ms. Kris Pierce: So, we’re a family of four, yourself and me our now 18-year-old adult children, twins, we have Ella and Will. And Will was diagnosed with SCN2A at the age of 14. Will started having seizures on day four that we noticed and they were presented as apnoeic seizures so he would basically turn blue and need resuscitating and that went on for a few weeks. We then went home and he was stable for a couple of weeks and then had another big seizure. And ended up at the children’s hospital and then spent pretty much the rest of that year in hospital having seizures. He would have a seizure, wake up, have another seizure, fall asleep, have a seizure and he really rotated through that for quite a few months which obviously have a devastating impact on his little brain. And because of the devastating presentation of his seizures, they originally thought that Will had Alper’s which is a neurodegenerative condition. And they sent him home for palliative care. And basically, we thought we were taking him home to die.

And obviously, that’s a devastating diagnosis for anyone to deal with. But over time, we started seeing really small gains in him like we’d see a small smile or just really, just a small gain in something that we hadn’t seen before. And over time, we saw this continue and so this sort of went against Alper’s diagnosis. During that time when he was in the hospital, he had every test that was possible, metabolic, muscle biopsies, all kinds of tests that didn’t show anything up. But this Alper’s was diagnosed on his deteriorating EEG. But as I said, over time, we realized that he was making games which went against Alper’s diagnosis.

Over the next couple of years, up unit he was probably four or five, he had a really rough time. He would continue to have quite significant seizures. If he got gastro or any other illness, he would end up in hospital fighting for his life. He was very fragile medically for the first five, six years of his life and we were in and out of hospital quite a lot. And it was a pretty traumatic time to him but also for us, as a family.

But then over time, the seizures started to get less although when they came, they came with a vengeance and they were very strong, severe seizures which could last for up to 45 minutes which would involve giving rescue medication, ambulances and emerging– racing to the hospital. And these really went on really until he was in his teens, these massive seizures. And we never knew when they were coming.

In saying that, we could always tell when there was something wrong and you could sort of seeing it building. It was like this crescendo with him and you sort of sit and watch and we’d always say, the teachers or his carers, you know is not right. There’s something coming and then we would be hit with one of the seizures. And that’s been the case for him right across his life. There was always sort of some indication. And he also had an aura, so he could also tell us in some way that something was coming. He would come and find an adult that there was a seizure coming.

Some of the other things that he’s had to deal with are his movement disorder but it took us quite a while to work out what it was, probably till we saw Ingrid Scheffer where he would get pain and that will come in his arm or his legs and that was quite painful for him. But these are all symptoms that we were trying to work out what they were in isolation because we had no diagnosis. We had no way to work out that these things all fitted under one umbrella like SCN2A. So, we’re managing them one thing at a time, one day at a time, which on reflection, it was the only way we could do it because we didn’t know.

Dr. David Cunnington: So how did a diagnosis eventually appear?

Ms. Kris Pierce: So, the diagnosis came, we were – because it was complex and we were getting no answers There was always these mysterious symptoms that we thought came under an umbrella, or the neurologist thought it came under an umbrella. So we were sent to Professor Ingrid Scheffer to go into her genetic epilepsy trial. So that meant having an appointment with her and getting Will’s DNA sent to America to be tested to see on the genetic panel at that time. And it took quite a few years for that to come back, probably two or three years I think maybe for that to come back with an answer of SCN2A. Yeah, that was when he was 14.

So quite a long diagnostic odyssey for us or for Will. But when– we’re glad we know now because it makes sense of a lot of things that he’s dealt with and many of the symptoms are similar or the same to other SCN2A patients. So, it just makes sense. And we found our tribe, we’ve now got families around the world that we’ve become friends with and we’re working with together to make the SCN2A impact less by working together.

Dr. David Cunnington: so what have been some of the challenges along the way?

Ms. Kris Pierce: I think it’s interesting, I’ve recently, last year, participated in some focus groups on the plusses and minuses of having a diagnosis. And in some ways, I feel that not having a diagnosis meant that we just managed each day as it came, we managed each symptom. We weren’t reading into each symptom, what it was or what it meant or where it was going. We sort of, after we let go of the Alper’s diagnosis, we had the freedom just to take Will each day.

So I think that was the kind of– it was a blessing. But in saying that, I’m very glad that we now have a diagnosis particularly with treatments in the pipeline that knowing what’s caused all these problems, that there’s work being done to help probably won’t, maybe help Will but to know that other families won’t have to go through what we’ve been through, I think that’s been really helpful. It’s been kind of therapeutic for me to have something to sort of work, but my energy into and help future families not deal with what we have.

Dr. David Cunnington: But one of the challenges that really manifested for you much more than for me is that ability to work.

Ms. Kris Pierce: I’ve done paid work, let’s say, really for 18 years, I– for a long time, the carer always like full-time, extremely demanding. It crushed me for quite a few years. And I’ve struggled with pulling myself out of that hole and finding a way to be, to give back or to feel like I’ve got a purpose. And I’ve done that in different ways not just in working in SCN2A but yeah, for sure, the challenges for me personally were I lost myself for a while. I lost who I was, what made me, what made me feel like I was making a positive contribution to society and it wasn’t easy to come out of that, to be honest, and you’ll know that as well as anyone else.

Dr. David Cunnington: But there’s been lots of joy, as well, so what are some of the examples of that?

Ms. Kris Pierce: Will is just a joy so is Ella, I have to say that. But Will still has challenges. People look at Will and I think he’s on the milder end of SCN2A what do we have to worry about. And in many ways, that’s correct. His seizures are controlled at the moment although he’s still on medication. He’s got an intellectual disability and will not be an independent adult. He’s functionally nonverbal although he can communicate. He has autistic traits which need to be managed and is getting more challenging as he gets older.

So, you know, whilst we’ve probably been through the worst, we’re certainly not out of the woods and I don’t think we ever will be with Will. We’ll always be his carers. We’ll always be making decisions with him and for him. But in terms of the joys, he himself is a joy and he has these passions in his life and I don’t even know how he comes across them. But his passion for hauling cows has evolved over the last couple of years where he just loved to see his cows. And he’s drawn in the hauling cow community to the point where they’re trying to work out how we can get him a job and how we can get him functioning within that community and doing something that he loves but also in a meaningful way and like he’s done it all on his own. He brings people into his passions. One of his other passions is Queen that he play We Will Rock You and we listened to that 24/7. We can sing it back to front. He can sing it back to front.

Dr. David Cunnington: So one of the really joyful things for me is apparent recently is Will is working with a young heifer so that’s a young type of female cow, to show her the– he shows this and who knew cow-like music too. So, Will playing Queen and singing We Will Rock You to this cow while he’s washing and brushing her.

Ms. Kris Pierce: Yeah.

Dr. David Cunnington: It’s pretty joyful.

Ms. Kris Pierce: Yeah. And he does. To know Will is to yeah, to find the joy I think. And he knows who gets him. And he really grabs on to those people who understand who he is and what his passions are and basically who will indulge those passions really. And we’re really lucky to have some really special people around us that have helped us develop Will into the young man that he is. But also, there are some pretty amazing people out in the world that has really taken him under their wing and that’s really evolving at the minute. So that’s really exciting and brings a lot of joy to him and to us.

Dr. David Cunnington: What about hopes for the future?

Ms. Kris Pierce: Well, I think my hopes for Will which have always been the case, is that he’s happy and he is happy. In terms of SCN2A if there was a treatment that could reverse some of his symptoms so that he was more independent. He’s not independent in his activities of daily living. He can’t brush his teeth. He can’t go to the toilet completely by himself. He can eat food but he can’t cook his own food. So, you know, if there are things that can reverse those things or help him be more independent then that would be– I would be chasing that down fairly fast and being interested in having those conversations for him. And there is some hope around that but we have to wait and see where that goes.

Dr. David Cunnington: And what about broader hopes, not just Will but for the family?

Ms. Kris Pierce: Wow! That’s a big one. I think Will hopes we’ll be buying a farm and we’ll be retiring on a farm. If it’s near a beach, I’m open to that. But I don’t know broader hopes for the family is to, just to contribute I think in an ongoing way to this community, to the SCN2A community.

Dr. David Cunnington: Thanks for those insights.

Ms. Kris Pierce: Thank you. One of the reasons we wanted to do this podcast and interview some parents were just to give insights to people working in the field of SCN2A or genetic epilepsies, to understand how SCN2A impacts our family’s lives, the challenges and what’s important to us, as families.

Dr. David Cunnington: And that means that to some of the researchers throughout the podcast, we’ve been interviewing people, that’s a theme that’s come through and it really helps the researchers not just think about it, this seizure, this particular experiment. But it’s actually making– the work they are doing, it’s making a real difference to children’s lives and potentially saving lives.

Ms. Kris Pierce: Yeah, and a lot of the scientists now who work in the lab, it’s a very confined space and has photos of our kids up on their wall or the SCN2A calendar up on their wall to remind them of why they are trying to find answers for children with SCN2A.

Dr. David Cunnington: So thanks for listening to his episode. Please subscribe to the podcast so that you can get all the episodes when they’re released and keep up with being informed about SCN2A and developmental and epileptic encephalopathies. And follow us on social media @SCN2A Australia on Facebook and Twitter. Thanks a lot.

This podcast is not intended as a substitute for your own independent health professional’s advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health provider within your country or place of residency with any questions you may have regarding your medical condition.