Welcome to Unlimited Parenting, where we discuss everything related to having children with
disabilities or special health care needs.
Today we'll be listening in to Angela, EIPL's Executive Director, and Sarah and Melissa,
my fellow parent education coordinators, as they discuss their personal experiences with
rare disease in honor of Rare Disease Day.
So without further ado, let's jump right into their conversation.
So we were talking about rare disease, February being rare disease month.
And Angela, yesterday you mentioned disease and kind of threw that out there.
I'm intrigued.
So yeah, so it's rare disease month and I was thinking to myself, does my daughter have
a disease?
Like, is that really the right term?
Because I was kind of bothered by it.
Yeah.
Like, what do you mean rare disease?
How do I promote that?
Yeah.
And so I thought, okay, because she has a genetic disorder.
So I went and looked because yay for Google.
So I said, what is the difference between a disease and a disorder?
And I was shocked that I learned that they are actually two different things, because
it turns out that a disorder is a group of symptoms that disrupts your normal body function,
right?
Which could be a syndrome, right?
But a disease is a, so here's the difference.
So a disease is a medical condition.
The disorder may not have an identifiable cause.
A disease does have an identifiable cause.
And that's the only difference.
So I had no idea that a disease meant that you could identify what was causing it.
I guess I always thought of when you think of disease, you think of something that is
communicable, other people can get it, or it's potentially life threatening.
And sometimes our genetic disorders aren't necessarily life threatening.
Because you said that to me yesterday.
You said that your daughter has a disease.
And that would essentially mean that my son, who also has a genetic syndrome, has a disease.
And I was like, great, he can have a disease.
Like you can catch it or something.
Yeah.
Exactly.
That's what I was thinking.
So I thought, why is that an outdated term to say that it's rare disease month?
But apparently it's not.
So I've never looked at it in that perspective before because he, well, his syndrome is missing.
So it's a deletion.
So I've never, I've thought of a disease as you have something, you've caught something.
So yeah, very much that.
So tell me, so for others, what is his?
And I'll tell you.
You share yours, I'll share mine.
Okay, we can do that.
So well, you guys are going to tell your story.
I was thinking about this.
We all had a very different, how did we get to genetics?
So mine was pretty quick.
He had a seizure when he was nine months old.
Our neurologist thought he maybe saw something and ordered genetic testing.
I didn't have to fight for it.
I didn't have to really ask any questions.
I didn't have to push.
It came back to us and it came back that he had a deletion on his 15th chromosome.
So that told us it was one of two things.
It could either be Prader-Willi or it could be Angelman syndrome.
So then we did some additional testing.
It was called a FISH test that told us that it was in fact his maternal copy of his 15th
chromosome, a protein called UBE3A that is deleted.
It's amazing how we learn just all these letters.
We are all suddenly biologists.
Right?
You have to be.
So I learned that and I guess I would say to begin with the mom guilt hit me because
I learned that it was the maternal copy.
We all have a paternal and a maternal copy of this UBE3A and to get completely in the
weeds the paternal is always silenced and we use our maternal copy.
So for my kiddo who doesn't have a maternal copy, he is pretty heavily impacted.
Let's just say that.
So I had some mom guilt to begin with and then I realized that this was before I even
existed.
It was a deletion.
It was completely de novo.
Well that's really interesting and important too because what you're saying is that it's
not hereditary.
Correct.
In our case it was not hereditary.
I think a lot of people think that it is automatically hereditary if you have a genetic condition.
Right?
It's like genetic means hereditary and it doesn't.
Yep.
Absolutely.
Do you want to tell?
Yeah.
I was going to say because mine did.
Mine is hereditary.
So our journey started when I had our youngest, Truman, 14 weeks premature.
I had some fluid buildup of my amniotic fluid and for no reason.
This is my third pregnancy normal.
I did everything normal.
I didn't make bad healthy choices and it just happened.
And so doing some research, you know you get on Google and you're like why did this happen?
What does this mean?
And we couldn't really find anything.
And then about so he has cerebral palsy, rare seizure disorder and some cardiovascular issues,
pulmonary issues, things like that.
Feeding.
He has one kidney.
And so about 13 years later we were introduced to a study.
My neighbor's kiddo has a rare genetic disease condition and she's on the listserv.
And so she came across a study for CP, cerebral palsy.
And so I reached out to the company doing the study and test.
And we didn't really fit the criteria because it was premature and that was one of the deciding
factors that we couldn't be part of the study.
Because he had CP because of the brain damage.
And so they really were just ruling it out as it was a result of being premature.
So in speaking to the genetic counselors we were able to kind of go in the back door of
the study.
They reached out to our insurance company and they were able to because of all of the
other things that came along with that, able to get us into the study.
And when we do those studies as parents trying to find answers for our kids we take, we run
the risk of finding other things that we may not have been prepared for in our own selves.
And we have to agree to that.
We agree when we sign those papers and maybe we don't even realize we're signing those
things but we are saying that yes, because they need to look at us too to see if it is
hereditary right?
And so we understood the risk and whatever that comes from.
And that kind of just flagged a thought in my mind and I'll talk about that in a second.
But turns out Truman's CP and all the other things were not a genetic, had nothing to
do with his genetics and the results.
But we did find out that he and I have the BRCA1 mutation which is the breast cancer
mutation.
And he had another liver something but it wasn't a big deal at that time.
So he has the mutation for breast cancer as do I.
And that makes a lot of sense because I am a daughter of a mother and aunt, grandmother
who had massive stage 4 breast cancer when we discovered my mom's.
And so I made a decision, thank you to breast cancer research and all of the genetic research
that is done to take a pre, I'm a pre-vibor is what we're labeled.
Really?
A pre-vibor.
I didn't know that.
Not a survivor but a pre-vibor.
So I made the decision to remove my ovaries and then both of my breasts.
And so I won't have to, hopefully, lessens my risk of getting breast cancer.
So I still can but I actually have a higher survival rate than women who don't have that,
don't carry the gene.
What does it mean for Truman?
So for Truman, so that's a good question.
So for Truman and boys, so my boys actually could, my other two.
You have two other sons.
I do.
So my other two could get tested.
And what that means for males is that they can pass on the gene mutation.
So when they're doing their own family planning, that can be a conversation.
And then they also have to be screened earlier than what is recommended for prostate cancer
and those types of things.
But now you know.
Yeah.
And so without that testing, when women get ovarian cancer, there's no early onset testing
for that.
It just, you just have it and that's how you find out you have ovarian cancer.
But with this mutation, it is a, there's a higher survival rate and it's really the only,
it's the most serious precaution for women who have or males who have that mutation to
remove the, remove the ovaries because those are what are the hormones that cause, that
cause the sometimes devastating cancer.
So and that also helps me to advocate for my sister who could now not have to fight
to get testing.
She can just be tested without, without question.
So wow.
Yeah, that's amazing.
I have a different story entirely.
I'm back to the, I'm back to the non-hereditary, but that's, that's not how we got testing
done.
So I have a, my daughter, we went, she wasn't meeting her milestones as a newborn, right?
Similar to you, Melissa, although she didn't have seizures, she just wasn't meeting those
early milestones.
She wasn't crawling on time.
She wasn't sitting up on time.
Not, we knew pretty early that she wasn't, something was off.
So yeah, so my daughter wasn't meeting her milestones, but the difference with me is
that I have a first cousin who actually he has since passed away.
We were very close growing up, but he was very similar and in his development with delays
and intellectual disabilities.
And so very early on we started to question, is there something going on here that's similar?
But he had never been diagnosed with anything specific.
And but then again, we're the same age, so science really hadn't gotten that far.
So we started our journey very early.
Actually my daughter Amber was about four months when we started that, that our Odyssey,
as I call it, our search for a real answer.
And actually we started with potentially that Angelman syndrome diagnosis.
And then the testing came back negative.
And over the years, finally she was diagnosed, she was diagnosed with an atypical Rett syndrome
diagnosis.
But at the time the gene for that condition wasn't even discovered until she was three
years old.
So we were sort of in the throes of getting that testing done.
And then it came back negative and, but it was still so new that there really wasn't,
all of the pieces weren't there.
So there were new tests that came on.
It was like, oh, test for this too, to see if it's this reason.
And then it was negative and negative and negative.
And so over time, by the time she was 10 years old, we had exhausted all of the testing and
came to accept that atypical Rett syndrome was her diagnosis.
It was the closest thing that fit, but we didn't have a real actual reason for it.
And as she got older, she was doing things that most people with Rett syndrome weren't
doing, which kept sort of creating a gap of, that got wider of, okay, she quacks like a
duck, but she's not really a duck.
Why, why?
What is happening here?
So like she was developing verbal language and that typically isn't happening.
There's a, usually a regression that goes with Rett syndrome that she wasn't experiencing.
And so finally in, I think it was 2016 or 2017, I, thanks to my work, I was able to
go to a genetic conference and I was, and it was huge.
It was the, it was just enormous.
There wasn't a breakout session that had less than a thousand people.
I've never been to anything that big.
It was so big, but they were talking about the updated science and they were talking
about these gene tracker databases and that they would put in the symptoms and the genes.
So we all have variants apparently in our genes, variations that may be causing something,
but variations that usually aren't.
So most of us will find mutations on our genes that don't really do anything.
And that's great.
Right?
But then there are those, those variants are possibly doing something.
So they, these gene tracker databases will look at, they'll put these variants in and
then maybe another lab in another part of the world even will punch in their person
with their symptoms and their variant.
And then they'll say, oh, hey, my person has those symptoms and that variant.
Maybe we have something that's causing this here.
And so they had this one presentation was, I think they had come across like four or
five other kids that had this similar symptoms and the same variant.
And that's how they discover essentially a syndrome.
The newer with whole, whole exome and whole genome sequencing.
Now they're able to find that.
So I said, hmm, we need to, we need to find out how we can do this.
So the biggest challenge for us is that my daughter by now is an adult and she is not
a priority when it comes to getting into genetics and genetic testing.
So how do you justify paying for this kind of genetic testing, which can be expensive.
It's gotten a lot less expensive over the last 10 years, but it's still expensive and
insurance companies and Medicaid will still have policies and parameters around who can
be tested and paid for and how, unless you're getting in like you did, Sarah, to a research
study, you know, that's where the challenge lies.
So because I have a cousin and potentially something happening that could have been hereditary,
we were able to talk about the medical necessity, right?
What is the path for her future as she becomes an adult?
What are some things that maybe we need to look at, like is there a cancer or a heart
condition or any of those kinds of things that we need to look at?
And so we were able to say, yes, we can get this paid for.
And so we did, but we still sat on a wait list for two years because in Idaho we only
have, well, at the time we had one state geneticist.
Now we have two.
That's exciting.
But actually prior to the one, we didn't have anybody, right?
We had visiting geneticists.
That's who I got mine from.
Somebody who visited either from Portland or Salt Lake City, they would come to Idaho
on a rotation and see patients.
So we were very fortunate.
We got in two years later, we did the genetic testing and in January of 2020 we got her
results and we, I'll never forget it.
I mean, we were 80th approximately in the world, in the whole world to have this mutation.
But it's because other people got that testing and the whole genome and whole exam sequencing
happens now that we're able to find so many of these rare conditions.
And there are those that will say, well, what difference does it make?
What, you know, it's a label.
It doesn't matter.
It has been life changing for us.
And just like you, it was life changing.
You know, you altered your whole life.
As parents, when we have kids, no matter what the situation and what the challenges they
have, we're always wanting to know why, what, why, why, why, why.
Not that it's going to change the way we feel about our kids, but as humans we want answers
to the unknown, right?
And so I think that by doing that, it helps us in our brain process the things.
And then how do we, how do we move forward and educate our families, our plan of care?
That's what I wanted.
Yeah.
I wanted people.
I wanted to find other, because while Angelman syndrome is rare, it's not as rare as Amber's.
When we got our diagnosis, I think someone told me that maybe we were the 12th in the
state maybe.
Yeah.
That's probably correct.
It was probably about, yeah, about correct.
I had never, and I was told, oh, a lot of them are a lot older.
You're the youngest, obviously, because he was a year when we got that.
So I just wanted to meet people.
I wanted to know what I was going to expect later on.
And like, I wanted to talk to other parents.
And it did, it gave me a preparation for seizures.
It gave me a preparation for the sleepless nights that we would be having.
So it was knowledge, but it was also a community too.
That I know that it didn't change anything.
It did.
Because I know that when we started with that diagnosis, one of the things about Angelman
syndrome is that by and large, these are nonverbal individuals.
And so you're going to look for completely different ways of communication rather than
waiting for some sort of verbal language to kick in.
And so that changes how you're doing your therapies and or, you know.
Yeah.
Because our trajectory absolutely changed.
We were doing signs.
We were very much starting to get him to, well, try to, you know, babble.
And that was something that he was not going to ever do.
So it did.
It did change our trajectory in terms of our interventions and how that was going to look
like for our family.
But it also changed that whole family planning dynamic too.
We knew that this was a, you know, yours was not.
Yours was hereditary.
We knew that ours was not.
It was just complete fluke.
So we felt okay.
However, we also had had, I didn't have family, but I had experienced multiple, multiple miscarriages.
He, we have an older child that had some spina bifida.
We have stuff going on.
So it did propel us to get some extra genetic counseling.
And that was helpful.
So it did.
It did.
It changes the trajectory, I guess.
I didn't tell you.
So I didn't even say.
So my daughter's condition is so rare that it doesn't have an A. Kind of like your BRCA1
gene.
We have a mutation on a gene called the HNRNPH2 gene, which stands for a whole bunch of things
that I can't pronounce, but I can, I can do that in a string of letters, right?
Yeah.
So we are, we are that rare, but going back to that whole thing of what are you going
to do differently?
So she's in her early twenties now, right?
And it's like, okay, so what are you going to do?
Well it turned out.
So think about when we got diagnosed.
It was January of 2020.
So in March of 2020, this wild genetic situation happened involving RNA and COVID happened.
But what that did for us in a very strange way is it gave us time, a lot of time to be
together because we weren't going in public, right?
We were all home.
We were quarantined.
We're all, we're in these.
It was a weird time of pain for so many people, but at the same time for us, it was an amazing
opportunity for getting to know the community, right?
The people, because while there were only about 80 in the world, we have a foundation
called the YBRP, Yellow Brick Road Project.
And we have a community of people on a Facebook page where we're learning from each other.
And so I was learning about interventions that parents of young children were doing
and seeing success in using technology that I hadn't even looked at at her age over the
year.
She was out of high school.
She was out of school.
And so it gave us the ability to realize that Amber could do things that we didn't know
she could do.
And we learned about a visual impairment called cortical visual impairment, CVI, that we
didn't know anything about, which is common in this.
And then I was able to go in eventually and do a functional visual assessment on her.
And she turns out she does have this.
We adapted our environment.
We did so many things that just increased her learning.
And so those are the things that it's like, I didn't even know that this was a possibility
and learning doesn't stop.
So what can we do to help increase her independence as she continues to get older and keep her
healthy and all of those things?
There's a lot more to this.
But for us, it was truly life altering.
And I want to shout that from a rooftop so that if there is somebody out there that says,
well, my insurance company won't pay for this, or they say it won't matter, or it's just
a label, I want to say that that's wrong.
Yeah, agreed.
I mean, we're not out here trying to take something away from our kids or change, change
our kids or cure them, especially with that word disease and like is curable.
I wouldn't change anything other than to provide support, education and learn how to increase
his quality of life.
So yes, we just talked about that this morning.
That is what I would want from that word cure.
And in the Angelman community, it very much is a hot topic.
It's a hot word because we have a lot of clinical trials that are in the pipeline right now.
That's very exciting.
And we do too, which is a miracle.
But at the end of the day, there are some of these conditions that are very health compromising
and they can be we have lost children in our community already.
We have had kids that have passed away due to the medical complexities of this.
And I don't think there's anybody out there that would disagree that yeah, you want to
care for that 100%
I don't want to change my daughter's personality, change any of those things about her.
I want to cure the devastating health impacts that come with so many of these rare diseases.
Yeah, I look at like, if I have a headache, I'm going to take some aspirin.
I don't want my headache to stick around forever.
I don't want him to have seizures that impact every minute of his life.
I just I don't
or you or you know, I mean, no, nobody wants to cure for cancer.
I think that might not be true.
Yeah, well, I guess that's true.
Yeah, you're right.
You know, people do want to get cancer.
So there's other conditions that people are like, well, I what's it going to matter?
Right, right.
And yeah, there's a lot of that out there.
And that's fine.
And also, if you if somebody is good where they're at, no matter what, that's where they're
at.
And that's great.
That you know that there's no judgment there for me at all.
I'm you know, be be good where you're at and wonderful.
But there is also, again, like I said, so many of these conditions that there are underlying
issues that are truly devastating.
And you know, we want to I personally believe that even if we are good where we're at, if
we can provide more information to the science of all of these conditions, then I feel like
we're we're helping in some way.
And I know that I know that at my daughter's age, no matter what is happening scientifically
for the clinical trials and the treatments and the cures that may come five to 10 years
down the line at a gene editing level, she's not a candidate.
And that's that's not even in our that's not something that we're looking forward to treatments
that could improve her quality of life.
Like you said, yes, of course, I want her to communicate more, I want her to be able
to be more independent.
I would love all of that for her.
Because when she's frustrated and upset about something, and she can't express that there's
nothing worse.
But really, we want to be part of the puzzle that can get pieced together to truly advance
the science and help us understand all of these conditions better.
Well, I think that's part of being a part of the community, too.
No matter where you're at in your journey or whatever you want to call it, you know,
older parents are giving knowledge to younger parents.
And those younger parents are teaching us older parents about technology, about all
of these new things.
So we all have something to teach one another.
I really think that because in our community, and I speak obviously about the Angelman community,
but there are some angels.
And I use that term really loosely because Reese can be the devil as well.
But the doctor's name wasn't Dr. Devil.
But it was.
It was Dr. Harry Angelman.
So that's why we have this.
We have angels that are in our community that are 70 years old that are still teaching us.
They are still teaching.
There is something to be said.
She just celebrated her 72nd anniversary or birthday.
And she lives in an assisted living home, but she had all of her friends and family
around her.
And isn't that cool?
Yeah, I want to see that.
And as part of our community, that makes me happy.
I know that there are days where it is not unicorns and rainbows, but I want to be able
to see that kind of stuff.
It provides hope.
Yeah.
And I think Amber gives a lot of others hope.
I know she does.
Well, I'm telling you, there's plenty of now that we're getting more and more diagnosed,
even in our small group, I think we're about nearly around 200 at this point in just, you
know, four short years.
So most though, well, let's talk about that real quick.
So yeah, most most are doing, they might be doing a lot more.
I mean, there's a broad range is what we're finding.
You know, there are some kids that are very, very mobile and can run and jump and climb
and and read at a grade level and speak with verbal communication in ways that I have never
heard my daughter speak, you know.
And on the other hand, we do have kids that, like I said in the beginning, you know, very,
very medically complex kids that are nonverbal, who are not mobile, who are struggling with
seizures, who are struggling with feeding and and tube fed and so lots and lots of variation,
even if we have the same gene mutation.
So we need to understand that better.
But I was going to say, the majority of the kids that are getting diagnosed now with this
particular disorder are very young, because they are getting access to this whole exome
sequencing rather than having to go through this, as I said, odyssey of testing.
We no longer have to test for this and then test for this and then test for this and then
look at this and then maybe it's metabolic and then maybe it's this and then maybe we
wait and see for another five years, right?
It's those days are gone.
Yes, you have access to whole genome whole exome sequencing.
Now not every condition out there is found through that process.
But this one is so and many are so.
But the majority of those kids right now, as I'm watching, are not in the US.
Interesting.
Yeah.
Well, to me, it tells me that is getting access to genetic testing and why.
Yes.
So I've I've been on my own personal crusade to find out why are people not getting more
genetic resources or access here in the US.
And I think from that also come the services and interventions to for that.
Sure.
In each right.
What are those services and where can you access them?
And you know, there is there is a bit of inequity, obviously, in any of this.
So I live in an area where I am close to a geneticist.
I could get or, you know, I'm right here in the Boise area.
If I live one of our families, amazingly lives in a very rural state in a very like seven
hours, seven, eight hours from any anywhere to travel.
Well, look at our families in Alaska.
Yeah, I mean, they know.
I mean, so but this is in the continental US.
But either way, to travel, to see somebody when it's seven, eight hours or just for other
families here in Idaho accessing things like early intervention, our infant toddler program,
even if you're an hour away and there's nobody that can kind of come to your home or you
can't get there, you're going to be behind significantly in either even getting a diagnosis
or getting those interventions.
And so there's a lot that kind of goes into the big picture of why we might not have a
diagnosis or why we might.
And then what happens even if you get a diagnosis.
So you know, and then there are catch all diagnoses like Sarah, your son has a CP diagnosis,
which again, and my cousin who was in his early 50s when he passed, you know, he had
an intellectual disability.
And that was all that there was ever to diagnose him with.
Many, many people because a spectrum get an autism diagnosis.
And that's as far as it goes.
And so if they are a level three autism, which may include not having verbal language and
some other things, are they being referred to genetics?
And a lot of times they aren't and for for again, a number of reasons.
We know that pediatricians and pediatricians sometimes will tell you that they feel that
this is out of their scope or out of their wheelhouse, I should say.
Like they don't feel I've read some studies where they say they don't feel like they don't
they don't know enough about whether what to refer to.
So they wait for developmental pediatricians to do it.
That was absolutely our case.
I knew something was happening.
He was our third.
Something was different.
And I kept telling the pediatrician that and it wasn't until the seizure that got us to
a neurologist that got us to the specialist that the I wholeheartedly believe that we
would have waited and waited and waited.
It was that seizure that was the catalyst that got us into that specialist.
But I agree, our pediatrician was not ever going to make that call.
But sometimes they don't do it because they don't want to refer.
This is what somebody told me.
A pediatrician actually told me this.
They are a little hesitant to refer to a service that might not be paid for.
And they don't want to put that burden on a family.
So you're grappling with a real I don't know, I guess that's almost an ethical debate, right?
Yeah, we get to make the decision on how they could pay for something or or at least try.
Is there a way anyway, like dangling the carrot?
Yeah, there's a lot of barriers.
I think that's just the end point.
There's just a lot of barriers to access for a lot of reasons.
And if I had my magic wand, it would be to provide access to anybody who wants it, because
there are always going to be plenty of people who don't.
Right.
And you don't have to know.
There are others though, in other states, and not here that I've ever seen, but I have
heard from parents in other states that have said, if I get a different diagnosis than
what I already have from a clinical standpoint, like our age of ret syndrome, then we might
lose our services, because that's qualifying their child that diagnosis is the what's qualifying
them for services.
And then something like HNR and pH 2, which is so rare, might not fit into a category
that somebody is saying, yes, that still qualifies you for services.
So, right.
So yeah, because autism, CP, those are those catch all diagnoses that they will fall into
a bucket of, okay, yes, this will potentially help get eligible for certain services.
Yep.
Right.
Magic words, magic words.
Yeah.
So and again, that varies from state to state.
And hopefully some of that is changing again, as we've made improvements in in all of this.
But you know, it's time, time and science, time and science and advocacy, always advocacy
and always parents.
Does anybody have any parting thoughts or something that they wished parents knew or
something that you wish you knew sooner before we go?
I'll start and then I think that we in our minds, bodies and hearts as parents have a
sixth sense and intuition.
And to not ignore that as a as a parent, searching for for an answer or just for peace of mind
that listen, listen and continue to ask questions.
Trust your mom or your dad trust your trust that gut of yours, because we're usually we're
usually right.
Even if we don't want to be, I don't think any of us wanted to be.
Yeah, no, I mean, no, I didn't.
So yeah, it was the only time I wanted to be wrong.
Right.
I know.
Yeah.
So I don't I think I've already said everything that is parting words.
If somebody doesn't know how to access genetic testing and that's something that they want,
then hopefully they'll contact us or a parent center in your own state or region.
Absolutely.
Yeah, I wouldn't add anything that we haven't already said.
I'm thankful that I had access to it.
I'm thankful I didn't ever have to fight for it.
And it came to us really easily.
I know that I am not.
That's not normal.
I know I recognize that my privilege in that that we got a diagnosis so quick and and then
everything started very much falling into place for us.
Thank you so much to everyone out there in podcast land for listening in.
If you are in Idaho or planning on moving to Idaho and have any questions on systems
or services for children with disabilities, please reach out to us on our website at I
pull Idaho dot org.
That's I P U L Idaho dot org or by calling us at 208-342-5884.
Until then, this has been unlimited parenting.
Thanks for listening.