Dr. Jeffrey Newell (00:00):
Hello, I'm Dr. Jeffrey Newell, professional of pediatrics and pharmacology, special education at Vanderbilt University Medical
Center in Nashville, Tennessee. Welcome to this podcast series titled Bringing Focus to the Diagnosis and Management of Rett
syndrome. Today, joining me is Page Nues. Paige, could you please introduce yourself and tell us a little bit about yourself?
Paige Nues (00:24):
I'm Paige Nues and I'm director of Family Empowerment at the International Rett Syndrome Foundation. I'm parent founder of
Katie's Clinic for Rett syndrome and related disorders at UCSF Benioff Children's Hospitals, but my most important title is
mom to Katie who's now 20 years old who has Rett syndrome and was diagnosed at 17 months of age.
Dr. Jeffrey Newell (00:43):
Thank you Paige for joining us. Today's episode is titled Improving the Patient-Clinician Relationship in Rett Syndrome. So
let's begin. Paige, as you pointed out, you're a mother of a daughter who has Rett syndrome. I'd love to hear a little bit
from you just about your experience and your daughter.
Paige Nues (01:07):
Well, thank you. I'm happy to share this story because Katie has classic Rett syndrome and while her diagnostic journey and
progression of symptoms sounds quite familiar to many others with Rett syndrome, it's also very unique to her, and I think
we find that with most children with Rett syndrome.
(01:25):
Katie was born quite typically with no birth issues. We took home a happy, healthy child. She was our first, and we started
to first notice some nagging flags, nagging issues around four or five, six months of age. She started spitting up a lot.
She didn't seem to have the strength to roll over, prop herself up, hold her head up for extended periods of time like other
babies we knew. Over the next few months, we shared these concerns with her pediatrician who didn't seem particularly concerned
and kept reassuring us that all children develop at different speeds. But by about 10 or 11 months of age, she agreed that
maybe a referral for some physical therapy and some intervention would help and she'd eventually catch up. But by about 12
months of age, 13, when we really started doing some intensive therapies, she agreed that we really needed to dig a little
deeper and see what was going on with Katie.
(02:18):
We were referred to pediatric neurologists and geneticists. We visited quite a few. We began our search for an answer to what
seemed like a weak and floppy body, but an overall happy and really bright kid who was developing language and playing with
toys and loved music and people. But during that period of time, she also started to really have periods of inconsolable crying
and disrupted sleep, prolonged naps and then not sleeping at night. She started to lose her ability to hold toys and chew
and swallow food textures that other babies were progressing to.
(03:04):
It was really a very scary time. We were getting all kinds of new language across our vocabulary, like fine motor skills and
gross motor skills, and we were looking at all kinds of metabolic disorders and things that were pretty scary. At 17 months
of age, a genetic panel for Rett syndrome came back positive. We started our journey, at that point, knowing what she didn't
have, but we weren't quite sure where this syndrome was going to take her because Rett syndrome's genetic, but it's not hereditary,
so it was a brand new syndrome to us and we had to do a lot of work to understand what her future might look like and what
we could do to help her on that journey.
(03:54):
Her neurologist who diagnosed her at the meeting where we got the diagnosis, handed us a handbook from the International Rett
Syndrome Association at that time, and it was called the Rett Syndrome Handbook and she said, "This is my copy. You can't
have it, but I highly recommend that you get a copy for yourself and follow it closely because it has a lot of information
that might help you with Katie's journey." And that was about it. We were with a wonderful team, a neurologist and a pediatrician,
who were very compassionate and empathetic, but didn't have much experience with the syndrome and we were kind of left to
really educate ourselves and then educate all of the therapists who had gotten involved with our child.
(04:37):
We became very committed to trying to help her through what we learned was a period of regression. We engaged in intensive
therapies, early intervention, thinking that we could influence the progression of her disorder. I think that really did help
and we were really grateful to have the support of people around us who were willing to learn about this rare disorder along
with us, but there's really no treatments or a cure and she went on to have her first seizure at the age of three. She was
at risk for aspiration coupled with the periods of having intense seizures and the inability to chew and swallow very well.
We ended up in the ER due to dehydration and her inability to get fluids in during some seizure clusters.
(05:34):
We said, "This is no way to live." She got a G-tube. At that time, she also developed scoliosis by the age of five and it
slowly progressed to having the need for spinal surgery at the age of 13. We never got control of her seizures, so we were
constantly changing medications. Different specialists were coming into our life beyond the realm of therapies. We had a gastroenterologist,
an orthopedic surgeon, our neurologist who we were visiting with very frequently, our pediatrician who was seeing us regularly
to try to help with these symptoms management.
(06:20):
During that time, she also lost the little speech that she had. She lost her ability to hold objects or play with toys. Eventually,
the crying periods really diminished, which we were happy about and we started our journey with assistive technology and communication
intervention to see, even though she had lost her verbal speech, if we could get through with assistive technology so that
she could communicate her wants, her needs, things that she enjoyed. A lot of those therapies continue today because she is
now completely in a wheelchair. She never learned to walk or stand independently, but with the use of bracing on her feet
and sometimes in her elbows, she's able to stand and enjoy weight bearing in a standing frame, and she can communicate with
her communication device. She's been involved at school, sometimes in a special ed classroom, sometimes with mainstreaming,
sometimes when she's had pretty intense medical issues like with her seizures or surgeries or pneumonias when she's had to
be home for a period of time to recover, she's had homeschooling.
(07:45):
It's been a full-time job managing Katie, but she's overall a really happy young adult now and transitioning to an adult transition
program after high school. We've gone on to have two more children. It's not hereditary, as I said earlier so they're typical
and wonderful sisters to her. But it's been a complicated time and really has been much more successful because of the relationships
that we've made with the clinicians in her life, with the doctors and therapists who have embraced Katie, have embraced our
family, have embraced me and the process of determining what interventions and what therapies and what medication managements
we're going to try with her because we try one thing and there's side effects, which then affect other things like her GI
or her sleep, her ability to stay awake during the day to get the therapies and interventions that are so crucial for her.
It's been a good journey, but it has definitely been a learning experience for all of us.
Dr. Jeffrey Newell (08:53):
Wow. Yeah, I mean there's so much to it. As you nicely articulated, there's so many different waves and things have come up
at different times and different ages. I think you mentioned that your clinicians, when you first got the diagnosis, they
had a book, which is kudos that they had the Rett Syndrome Handbook. But as you point out, they didn't really have particular
knowledge about it, but they were interested in understanding and working with you. I think hearing that, and if you could
give some advice for parents and thinking what is helpful with that interaction with the clinicians, it's helpful to achieve
this sort of relationship. How would you advise people on that?
Paige Nues (09:45):
Yeah. Well, I think in hindsight, I tell parents this all the time now, which I think it's really important to find clinicians
who, like we were fortunate enough to experience, are open to learning. Who are not afraid to say, "We've never experienced
a patient with this rare disorder, but I'm willing to learn and I'm willing to listen to you as a parent."
(10:08):
I found the most reassuring moments in Katie's progression that she experienced with Rett syndrome were moments where I knew
something had changed. I knew that there was a problem. I knew that something was not quite right with Katie, and I would
make an appointment with either her neurologist or her pediatrician or another specialist, and they would really listen to
me and they respected the fact that I didn't want to be there in a doctor's office with my child. I wanted her to have as
much of a normal typical experience as she could, but I knew that there was something different.
(10:46):
Because she was nonverbal and she's unable to tell me where it hurts or what hurts or what's going on with her, it's a bit
of an investigative process for both the clinician and myself to exchange information to really figure out what's going on.
That's how we discovered that she was suffering from reflux, and that was a lot of the reason why she was crying inconsolably
and once we got that under control, which was pretty easy with a medication, but she couldn't tell us that that hurt or that
there was acid coming up in her throat. I think that's, again, in hindsight is the best advice that I could tell a parent
is you need that local quarterback in your corner who says, "Yes, I'm going to listen to you. I'm not going to dismiss your
concerns as just this is Rett syndrome and there's nothing we can do about it."
(11:42):
But then we also were able to visit with a Rett Syndrome Center of Excellence, and not for her daily care, but for guidance.
We were able to find a specialist who really did know Rett syndrome and who has also become a part of our team to help us
as well as to help her pediatrician and her local clinicians be able to tease out what is a common Rett symptom and what's
the best intervention for these Rett symptoms versus what's just a common medical issue, or what is something that might be
going on with Katie that's not so common, but is not Rett-related, right? Because those are forks in the road that we encounter
all the time. To do collective decision making between ourselves as parents and then the physicians who are super trained
in their specialty has been probably the best solution for us to be able to really help Katie through this journey with her
rare disease.
Dr. Jeffrey Newell (12:43):
Yeah, I mean, I think you summarized it so nicely. I mean, I know I talk to families quite frequently who have come to see
me and they say, "Well, their doctors at home don't really know anything about Rett syndrome." I say that it's not so much
that they've had experience with Rett syndrome in the past, but they're willing to understand and learn and work, like you
said, with the family, work with the people who have expertise at the Centers of Excellence who might be willing to give consultations
and give advice and give phone calls to help that.
(13:23):
And like you said, entering to a shared decision making that they understand maybe the family has been more up on Rett syndrome
than they are and the family is living it so they are bringing that. I always say that it's good for a doctor who will not
forget that they're a doctor and not just write everything up to Rett syndrome. People with Rett syndrome have childhood problems
and adult problems as they grow up so they have problems with the ear infections, and so just not being blinded by this rare
complex disorder, but keeping being a conscientious physician that people are, but they sometimes lose track of that. Now,
I think this has been a great discussion. Paige, do you have any final things you'd like to say to this closing to summarize
what we've been talking about?
Paige Nues (14:15):
Yeah, thank you. Thanks. I do. I think I probably have two things that I'd like to really reinforce. One is to really ask
clinicians, neurologists, pediatricians, everybody involved in someone with Rett syndrome's life to be really patient with
parents. A lot of the things that come up feel like they're elective decisions, whether to change a seizure medication, what
is the right time for surgery? When is the right time for a G-tube or scoliosis surgery? How long to wear orthotics or braces
during the day? It's a lot of things that are not urgent care or emergent care, but really need to be attended to. We don't
want our children to be taking a lot of medications. We don't want them to use a lot of equipment, but it takes us time to
really accept those decisions and those interventions and to get to the other side of them where we can see in hindsight,
"Oh, that was the best thing we ever did."
(15:22):
I'd ask clinicians to really help parents through those decision making points, to get to accept the intervention, to see
it as a positive, to see it as a win against Rett syndrome where we often feel like there aren't a lot of wins. That's a best,
I think, outlook and lens to approach the journey with Rett syndrome. And also understand that this is going to be a long-term
relationship, that we don't have a cure or really transformative treatments at this moment in time, so that relationship is
probably going to be many, many years long and many more visits than with other patients. Invest the time to have a positive
relationship and guide the parent about when to call, when to make an appointment, when to come in and not delay treatment.
(16:09):
The second thing I would really talk about is where we are at in our life, where Katie's 20 years old, is we're really facing
the necessity to do transition to adult care and transition out of pediatrics. That can be really a very daunting moment in
time because we don't find that there's a lot of adult physicians who are very familiar with developmental disorders and people
with developmental disorders, much less something as rare as Rett syndrome. I really put out a request to clinicians to help
parents make that transition, to help us get good medical summaries, to be armed with good recommendations of future care
that we can carry on into that search for the right adult practitioner locally to help us. I think those are the two things
I would probably want to hit home.
Dr. Jeffrey Newell (17:06):
These are really important issues. Yeah. Well, thank you, Paige, for this great discussion and thanks, everyone, for participating
in this activity. Please continue on to answer the questions that follow and complete the evaluation.
