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Welcome to Unlimited Parenting, where we discuss everything related to having children with

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disabilities or special health care needs.

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Today we'll be listening in to Angela, EIPL's Executive Director, and Sarah and Melissa,

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my fellow parent education coordinators, as they discuss their personal experiences with

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rare disease in honor of Rare Disease Day.

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So without further ado, let's jump right into their conversation.

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So we were talking about rare disease, February being rare disease month.

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And Angela, yesterday you mentioned disease and kind of threw that out there.

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I'm intrigued.

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So yeah, so it's rare disease month and I was thinking to myself, does my daughter have

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a disease?

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Like, is that really the right term?

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Because I was kind of bothered by it.

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Yeah.

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Like, what do you mean rare disease?

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How do I promote that?

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Yeah.

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And so I thought, okay, because she has a genetic disorder.

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So I went and looked because yay for Google.

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So I said, what is the difference between a disease and a disorder?

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And I was shocked that I learned that they are actually two different things, because

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it turns out that a disorder is a group of symptoms that disrupts your normal body function,

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right?

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Which could be a syndrome, right?

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But a disease is a, so here's the difference.

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So a disease is a medical condition.

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The disorder may not have an identifiable cause.

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A disease does have an identifiable cause.

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And that's the only difference.

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So I had no idea that a disease meant that you could identify what was causing it.

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I guess I always thought of when you think of disease, you think of something that is

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communicable, other people can get it, or it's potentially life threatening.

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And sometimes our genetic disorders aren't necessarily life threatening.

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Because you said that to me yesterday.

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You said that your daughter has a disease.

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And that would essentially mean that my son, who also has a genetic syndrome, has a disease.

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And I was like, great, he can have a disease.

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Like you can catch it or something.

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Yeah.

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Exactly.

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That's what I was thinking.

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So I thought, why is that an outdated term to say that it's rare disease month?

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But apparently it's not.

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So I've never looked at it in that perspective before because he, well, his syndrome is missing.

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So it's a deletion.

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So I've never, I've thought of a disease as you have something, you've caught something.

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So yeah, very much that.

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So tell me, so for others, what is his?

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And I'll tell you.

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You share yours, I'll share mine.

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Okay, we can do that.

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So well, you guys are going to tell your story.

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I was thinking about this.

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We all had a very different, how did we get to genetics?

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So mine was pretty quick.

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He had a seizure when he was nine months old.

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Our neurologist thought he maybe saw something and ordered genetic testing.

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I didn't have to fight for it.

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I didn't have to really ask any questions.

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I didn't have to push.

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It came back to us and it came back that he had a deletion on his 15th chromosome.

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So that told us it was one of two things.

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It could either be Prader-Willi or it could be Angelman syndrome.

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So then we did some additional testing.

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It was called a FISH test that told us that it was in fact his maternal copy of his 15th

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chromosome, a protein called UBE3A that is deleted.

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It's amazing how we learn just all these letters.

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We are all suddenly biologists.

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Right?

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You have to be.

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So I learned that and I guess I would say to begin with the mom guilt hit me because

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I learned that it was the maternal copy.

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We all have a paternal and a maternal copy of this UBE3A and to get completely in the

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weeds the paternal is always silenced and we use our maternal copy.

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So for my kiddo who doesn't have a maternal copy, he is pretty heavily impacted.

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Let's just say that.

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So I had some mom guilt to begin with and then I realized that this was before I even

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existed.

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It was a deletion.

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It was completely de novo.

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Well that's really interesting and important too because what you're saying is that it's

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not hereditary.

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Correct.

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In our case it was not hereditary.

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I think a lot of people think that it is automatically hereditary if you have a genetic condition.

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Right?

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It's like genetic means hereditary and it doesn't.

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Yep.

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Absolutely.

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Do you want to tell?

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Yeah.

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I was going to say because mine did.

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Mine is hereditary.

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So our journey started when I had our youngest, Truman, 14 weeks premature.

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I had some fluid buildup of my amniotic fluid and for no reason.

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This is my third pregnancy normal.

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I did everything normal.

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I didn't make bad healthy choices and it just happened.

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And so doing some research, you know you get on Google and you're like why did this happen?

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What does this mean?

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And we couldn't really find anything.

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And then about so he has cerebral palsy, rare seizure disorder and some cardiovascular issues,

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pulmonary issues, things like that.

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Feeding.

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He has one kidney.

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And so about 13 years later we were introduced to a study.

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My neighbor's kiddo has a rare genetic disease condition and she's on the listserv.

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And so she came across a study for CP, cerebral palsy.

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And so I reached out to the company doing the study and test.

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And we didn't really fit the criteria because it was premature and that was one of the deciding

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factors that we couldn't be part of the study.

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Because he had CP because of the brain damage.

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And so they really were just ruling it out as it was a result of being premature.

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So in speaking to the genetic counselors we were able to kind of go in the back door of

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the study.

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They reached out to our insurance company and they were able to because of all of the

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other things that came along with that, able to get us into the study.

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And when we do those studies as parents trying to find answers for our kids we take, we run

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the risk of finding other things that we may not have been prepared for in our own selves.

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And we have to agree to that.

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We agree when we sign those papers and maybe we don't even realize we're signing those

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things but we are saying that yes, because they need to look at us too to see if it is

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hereditary right?

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And so we understood the risk and whatever that comes from.

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And that kind of just flagged a thought in my mind and I'll talk about that in a second.

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But turns out Truman's CP and all the other things were not a genetic, had nothing to

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do with his genetics and the results.

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But we did find out that he and I have the BRCA1 mutation which is the breast cancer

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mutation.

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And he had another liver something but it wasn't a big deal at that time.

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So he has the mutation for breast cancer as do I.

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And that makes a lot of sense because I am a daughter of a mother and aunt, grandmother

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who had massive stage 4 breast cancer when we discovered my mom's.

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And so I made a decision, thank you to breast cancer research and all of the genetic research

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that is done to take a pre, I'm a pre-vibor is what we're labeled.

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Really?

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A pre-vibor.

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I didn't know that.

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Not a survivor but a pre-vibor.

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So I made the decision to remove my ovaries and then both of my breasts.

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And so I won't have to, hopefully, lessens my risk of getting breast cancer.

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So I still can but I actually have a higher survival rate than women who don't have that,

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don't carry the gene.

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What does it mean for Truman?

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So for Truman, so that's a good question.

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So for Truman and boys, so my boys actually could, my other two.

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You have two other sons.

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I do.

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So my other two could get tested.

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And what that means for males is that they can pass on the gene mutation.

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So when they're doing their own family planning, that can be a conversation.

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And then they also have to be screened earlier than what is recommended for prostate cancer

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and those types of things.

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But now you know.

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Yeah.

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And so without that testing, when women get ovarian cancer, there's no early onset testing

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for that.

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It just, you just have it and that's how you find out you have ovarian cancer.

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But with this mutation, it is a, there's a higher survival rate and it's really the only,

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it's the most serious precaution for women who have or males who have that mutation to

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remove the, remove the ovaries because those are what are the hormones that cause, that

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cause the sometimes devastating cancer.

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So and that also helps me to advocate for my sister who could now not have to fight

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to get testing.

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She can just be tested without, without question.

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So wow.

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Yeah, that's amazing.

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I have a different story entirely.

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I'm back to the, I'm back to the non-hereditary, but that's, that's not how we got testing

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done.

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So I have a, my daughter, we went, she wasn't meeting her milestones as a newborn, right?

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Similar to you, Melissa, although she didn't have seizures, she just wasn't meeting those

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early milestones.

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She wasn't crawling on time.

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She wasn't sitting up on time.

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Not, we knew pretty early that she wasn't, something was off.

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So yeah, so my daughter wasn't meeting her milestones, but the difference with me is

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that I have a first cousin who actually he has since passed away.

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We were very close growing up, but he was very similar and in his development with delays

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and intellectual disabilities.

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And so very early on we started to question, is there something going on here that's similar?

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But he had never been diagnosed with anything specific.

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And but then again, we're the same age, so science really hadn't gotten that far.

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So we started our journey very early.

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Actually my daughter Amber was about four months when we started that, that our Odyssey,

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as I call it, our search for a real answer.

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And actually we started with potentially that Angelman syndrome diagnosis.

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And then the testing came back negative.

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And over the years, finally she was diagnosed, she was diagnosed with an atypical Rett syndrome

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diagnosis.

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But at the time the gene for that condition wasn't even discovered until she was three

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years old.

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So we were sort of in the throes of getting that testing done.

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And then it came back negative and, but it was still so new that there really wasn't,

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all of the pieces weren't there.

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So there were new tests that came on.

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It was like, oh, test for this too, to see if it's this reason.

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And then it was negative and negative and negative.

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And so over time, by the time she was 10 years old, we had exhausted all of the testing and

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came to accept that atypical Rett syndrome was her diagnosis.

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It was the closest thing that fit, but we didn't have a real actual reason for it.

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And as she got older, she was doing things that most people with Rett syndrome weren't

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doing, which kept sort of creating a gap of, that got wider of, okay, she quacks like a

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duck, but she's not really a duck.

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Why, why?

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What is happening here?

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So like she was developing verbal language and that typically isn't happening.

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There's a, usually a regression that goes with Rett syndrome that she wasn't experiencing.

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And so finally in, I think it was 2016 or 2017, I, thanks to my work, I was able to

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go to a genetic conference and I was, and it was huge.

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It was the, it was just enormous.

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There wasn't a breakout session that had less than a thousand people.

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I've never been to anything that big.

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It was so big, but they were talking about the updated science and they were talking

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about these gene tracker databases and that they would put in the symptoms and the genes.

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So we all have variants apparently in our genes, variations that may be causing something,

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but variations that usually aren't.

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So most of us will find mutations on our genes that don't really do anything.

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And that's great.

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Right?

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But then there are those, those variants are possibly doing something.

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So they, these gene tracker databases will look at, they'll put these variants in and

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then maybe another lab in another part of the world even will punch in their person

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with their symptoms and their variant.

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And then they'll say, oh, hey, my person has those symptoms and that variant.

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Maybe we have something that's causing this here.

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And so they had this one presentation was, I think they had come across like four or

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five other kids that had this similar symptoms and the same variant.

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And that's how they discover essentially a syndrome.

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The newer with whole, whole exome and whole genome sequencing.

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Now they're able to find that.

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So I said, hmm, we need to, we need to find out how we can do this.

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So the biggest challenge for us is that my daughter by now is an adult and she is not

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a priority when it comes to getting into genetics and genetic testing.

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So how do you justify paying for this kind of genetic testing, which can be expensive.

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It's gotten a lot less expensive over the last 10 years, but it's still expensive and

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insurance companies and Medicaid will still have policies and parameters around who can

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be tested and paid for and how, unless you're getting in like you did, Sarah, to a research

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study, you know, that's where the challenge lies.

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So because I have a cousin and potentially something happening that could have been hereditary,

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we were able to talk about the medical necessity, right?

242
00:16:08,040 --> 00:16:11,500
What is the path for her future as she becomes an adult?

243
00:16:11,500 --> 00:16:17,240
What are some things that maybe we need to look at, like is there a cancer or a heart

244
00:16:17,240 --> 00:16:22,120
condition or any of those kinds of things that we need to look at?

245
00:16:22,120 --> 00:16:27,040
And so we were able to say, yes, we can get this paid for.

246
00:16:27,040 --> 00:16:33,480
And so we did, but we still sat on a wait list for two years because in Idaho we only

247
00:16:33,480 --> 00:16:37,800
have, well, at the time we had one state geneticist.

248
00:16:37,800 --> 00:16:39,040
Now we have two.

249
00:16:39,040 --> 00:16:40,040
That's exciting.

250
00:16:40,040 --> 00:16:44,400
But actually prior to the one, we didn't have anybody, right?

251
00:16:44,400 --> 00:16:46,560
We had visiting geneticists.

252
00:16:46,560 --> 00:16:47,560
That's who I got mine from.

253
00:16:47,560 --> 00:16:52,840
Somebody who visited either from Portland or Salt Lake City, they would come to Idaho

254
00:16:52,840 --> 00:16:55,240
on a rotation and see patients.

255
00:16:55,240 --> 00:16:57,800
So we were very fortunate.

256
00:16:57,800 --> 00:17:05,840
We got in two years later, we did the genetic testing and in January of 2020 we got her

257
00:17:05,840 --> 00:17:09,840
results and we, I'll never forget it.

258
00:17:09,840 --> 00:17:15,920
I mean, we were 80th approximately in the world, in the whole world to have this mutation.

259
00:17:15,920 --> 00:17:20,640
But it's because other people got that testing and the whole genome and whole exam sequencing

260
00:17:20,640 --> 00:17:26,560
happens now that we're able to find so many of these rare conditions.

261
00:17:26,560 --> 00:17:29,920
And there are those that will say, well, what difference does it make?

262
00:17:29,920 --> 00:17:31,680
What, you know, it's a label.

263
00:17:31,680 --> 00:17:33,120
It doesn't matter.

264
00:17:33,120 --> 00:17:36,200
It has been life changing for us.

265
00:17:36,200 --> 00:17:38,760
And just like you, it was life changing.

266
00:17:38,760 --> 00:17:41,360
You know, you altered your whole life.

267
00:17:41,360 --> 00:17:50,320
As parents, when we have kids, no matter what the situation and what the challenges they

268
00:17:50,320 --> 00:17:55,640
have, we're always wanting to know why, what, why, why, why, why.

269
00:17:55,640 --> 00:18:00,480
Not that it's going to change the way we feel about our kids, but as humans we want answers

270
00:18:00,480 --> 00:18:02,300
to the unknown, right?

271
00:18:02,300 --> 00:18:10,520
And so I think that by doing that, it helps us in our brain process the things.

272
00:18:10,520 --> 00:18:16,080
And then how do we, how do we move forward and educate our families, our plan of care?

273
00:18:16,080 --> 00:18:17,560
That's what I wanted.

274
00:18:17,560 --> 00:18:18,560
Yeah.

275
00:18:18,560 --> 00:18:20,400
I wanted people.

276
00:18:20,400 --> 00:18:28,160
I wanted to find other, because while Angelman syndrome is rare, it's not as rare as Amber's.

277
00:18:28,160 --> 00:18:33,240
When we got our diagnosis, I think someone told me that maybe we were the 12th in the

278
00:18:33,240 --> 00:18:34,240
state maybe.

279
00:18:34,240 --> 00:18:35,240
Yeah.

280
00:18:35,240 --> 00:18:36,240
Yeah.

281
00:18:36,240 --> 00:18:37,240
That's probably correct.

282
00:18:37,240 --> 00:18:38,520
It was probably about, yeah, about correct.

283
00:18:38,520 --> 00:18:42,960
I had never, and I was told, oh, a lot of them are a lot older.

284
00:18:42,960 --> 00:18:46,600
You're the youngest, obviously, because he was a year when we got that.

285
00:18:46,600 --> 00:18:48,600
So I just wanted to meet people.

286
00:18:48,600 --> 00:18:52,200
I wanted to know what I was going to expect later on.

287
00:18:52,200 --> 00:18:54,960
And like, I wanted to talk to other parents.

288
00:18:54,960 --> 00:18:58,840
And it did, it gave me a preparation for seizures.

289
00:18:58,840 --> 00:19:03,480
It gave me a preparation for the sleepless nights that we would be having.

290
00:19:03,480 --> 00:19:07,040
So it was knowledge, but it was also a community too.

291
00:19:07,040 --> 00:19:10,280
That I know that it didn't change anything.

292
00:19:10,280 --> 00:19:11,280
It did.

293
00:19:11,280 --> 00:19:12,280
It did.

294
00:19:12,280 --> 00:19:16,400
Because I know that when we started with that diagnosis, one of the things about Angelman

295
00:19:16,400 --> 00:19:22,120
syndrome is that by and large, these are nonverbal individuals.

296
00:19:22,120 --> 00:19:27,320
And so you're going to look for completely different ways of communication rather than

297
00:19:27,320 --> 00:19:31,920
waiting for some sort of verbal language to kick in.

298
00:19:31,920 --> 00:19:37,920
And so that changes how you're doing your therapies and or, you know.

299
00:19:37,920 --> 00:19:38,920
Yeah.

300
00:19:38,920 --> 00:19:40,240
Because our trajectory absolutely changed.

301
00:19:40,240 --> 00:19:41,360
We were doing signs.

302
00:19:41,360 --> 00:19:46,940
We were very much starting to get him to, well, try to, you know, babble.

303
00:19:46,940 --> 00:19:49,280
And that was something that he was not going to ever do.

304
00:19:49,280 --> 00:19:50,280
So it did.

305
00:19:50,280 --> 00:19:54,440
It did change our trajectory in terms of our interventions and how that was going to look

306
00:19:54,440 --> 00:19:55,700
like for our family.

307
00:19:55,700 --> 00:19:59,200
But it also changed that whole family planning dynamic too.

308
00:19:59,200 --> 00:20:02,600
We knew that this was a, you know, yours was not.

309
00:20:02,600 --> 00:20:03,600
Yours was hereditary.

310
00:20:03,600 --> 00:20:05,380
We knew that ours was not.

311
00:20:05,380 --> 00:20:08,220
It was just complete fluke.

312
00:20:08,220 --> 00:20:09,920
So we felt okay.

313
00:20:09,920 --> 00:20:19,640
However, we also had had, I didn't have family, but I had experienced multiple, multiple miscarriages.

314
00:20:19,640 --> 00:20:26,360
He, we have an older child that had some spina bifida.

315
00:20:26,360 --> 00:20:28,160
We have stuff going on.

316
00:20:28,160 --> 00:20:33,200
So it did propel us to get some extra genetic counseling.

317
00:20:33,200 --> 00:20:35,160
And that was helpful.

318
00:20:35,160 --> 00:20:36,160
So it did.

319
00:20:36,160 --> 00:20:37,160
It did.

320
00:20:37,160 --> 00:20:38,160
It changes the trajectory, I guess.

321
00:20:38,160 --> 00:20:39,440
I didn't tell you.

322
00:20:39,440 --> 00:20:40,740
So I didn't even say.

323
00:20:40,740 --> 00:20:45,640
So my daughter's condition is so rare that it doesn't have an A. Kind of like your BRCA1

324
00:20:45,640 --> 00:20:46,640
gene.

325
00:20:46,640 --> 00:20:54,640
We have a mutation on a gene called the HNRNPH2 gene, which stands for a whole bunch of things

326
00:20:54,640 --> 00:21:00,000
that I can't pronounce, but I can, I can do that in a string of letters, right?

327
00:21:00,000 --> 00:21:01,000
Yeah.

328
00:21:01,000 --> 00:21:05,520
So we are, we are that rare, but going back to that whole thing of what are you going

329
00:21:05,520 --> 00:21:07,340
to do differently?

330
00:21:07,340 --> 00:21:10,720
So she's in her early twenties now, right?

331
00:21:10,720 --> 00:21:12,320
And it's like, okay, so what are you going to do?

332
00:21:12,320 --> 00:21:13,820
Well it turned out.

333
00:21:13,820 --> 00:21:15,720
So think about when we got diagnosed.

334
00:21:15,720 --> 00:21:18,400
It was January of 2020.

335
00:21:18,400 --> 00:21:28,160
So in March of 2020, this wild genetic situation happened involving RNA and COVID happened.

336
00:21:28,160 --> 00:21:36,160
But what that did for us in a very strange way is it gave us time, a lot of time to be

337
00:21:36,160 --> 00:21:39,640
together because we weren't going in public, right?

338
00:21:39,640 --> 00:21:40,640
We were all home.

339
00:21:40,640 --> 00:21:41,640
We were quarantined.

340
00:21:41,640 --> 00:21:42,640
We're all, we're in these.

341
00:21:42,640 --> 00:21:50,120
It was a weird time of pain for so many people, but at the same time for us, it was an amazing

342
00:21:50,120 --> 00:21:55,600
opportunity for getting to know the community, right?

343
00:21:55,600 --> 00:21:59,680
The people, because while there were only about 80 in the world, we have a foundation

344
00:21:59,680 --> 00:22:02,840
called the YBRP, Yellow Brick Road Project.

345
00:22:02,840 --> 00:22:09,280
And we have a community of people on a Facebook page where we're learning from each other.

346
00:22:09,280 --> 00:22:15,560
And so I was learning about interventions that parents of young children were doing

347
00:22:15,560 --> 00:22:22,120
and seeing success in using technology that I hadn't even looked at at her age over the

348
00:22:22,120 --> 00:22:23,120
year.

349
00:22:23,120 --> 00:22:24,120
She was out of high school.

350
00:22:24,120 --> 00:22:25,120
She was out of school.

351
00:22:25,120 --> 00:22:31,360
And so it gave us the ability to realize that Amber could do things that we didn't know

352
00:22:31,360 --> 00:22:32,360
she could do.

353
00:22:32,360 --> 00:22:39,200
And we learned about a visual impairment called cortical visual impairment, CVI, that we

354
00:22:39,200 --> 00:22:42,040
didn't know anything about, which is common in this.

355
00:22:42,040 --> 00:22:46,680
And then I was able to go in eventually and do a functional visual assessment on her.

356
00:22:46,680 --> 00:22:49,040
And she turns out she does have this.

357
00:22:49,040 --> 00:22:51,160
We adapted our environment.

358
00:22:51,160 --> 00:22:55,720
We did so many things that just increased her learning.

359
00:22:55,720 --> 00:23:01,960
And so those are the things that it's like, I didn't even know that this was a possibility

360
00:23:01,960 --> 00:23:04,360
and learning doesn't stop.

361
00:23:04,360 --> 00:23:10,880
So what can we do to help increase her independence as she continues to get older and keep her

362
00:23:10,880 --> 00:23:13,560
healthy and all of those things?

363
00:23:13,560 --> 00:23:14,800
There's a lot more to this.

364
00:23:14,800 --> 00:23:18,120
But for us, it was truly life altering.

365
00:23:18,120 --> 00:23:24,560
And I want to shout that from a rooftop so that if there is somebody out there that says,

366
00:23:24,560 --> 00:23:30,320
well, my insurance company won't pay for this, or they say it won't matter, or it's just

367
00:23:30,320 --> 00:23:34,600
a label, I want to say that that's wrong.

368
00:23:34,600 --> 00:23:35,600
Yeah, agreed.

369
00:23:35,600 --> 00:23:42,520
I mean, we're not out here trying to take something away from our kids or change, change

370
00:23:42,520 --> 00:23:49,800
our kids or cure them, especially with that word disease and like is curable.

371
00:23:49,800 --> 00:24:00,180
I wouldn't change anything other than to provide support, education and learn how to increase

372
00:24:00,180 --> 00:24:02,360
his quality of life.

373
00:24:02,360 --> 00:24:07,000
So yes, we just talked about that this morning.

374
00:24:07,000 --> 00:24:09,560
That is what I would want from that word cure.

375
00:24:09,560 --> 00:24:13,520
And in the Angelman community, it very much is a hot topic.

376
00:24:13,520 --> 00:24:18,280
It's a hot word because we have a lot of clinical trials that are in the pipeline right now.

377
00:24:18,280 --> 00:24:19,280
That's very exciting.

378
00:24:19,280 --> 00:24:21,320
And we do too, which is a miracle.

379
00:24:21,320 --> 00:24:29,960
But at the end of the day, there are some of these conditions that are very health compromising

380
00:24:29,960 --> 00:24:35,680
and they can be we have lost children in our community already.

381
00:24:35,680 --> 00:24:40,440
We have had kids that have passed away due to the medical complexities of this.

382
00:24:40,440 --> 00:24:45,640
And I don't think there's anybody out there that would disagree that yeah, you want to

383
00:24:45,640 --> 00:24:47,600
care for that 100%

384
00:24:47,600 --> 00:24:55,560
I don't want to change my daughter's personality, change any of those things about her.

385
00:24:55,560 --> 00:25:07,160
I want to cure the devastating health impacts that come with so many of these rare diseases.

386
00:25:07,160 --> 00:25:11,880
Yeah, I look at like, if I have a headache, I'm going to take some aspirin.

387
00:25:11,880 --> 00:25:14,360
I don't want my headache to stick around forever.

388
00:25:14,360 --> 00:25:18,280
I don't want him to have seizures that impact every minute of his life.

389
00:25:18,280 --> 00:25:19,280
I just I don't

390
00:25:19,280 --> 00:25:23,720
or you or you know, I mean, no, nobody wants to cure for cancer.

391
00:25:23,720 --> 00:25:25,720
I think that might not be true.

392
00:25:25,720 --> 00:25:27,040
Yeah, well, I guess that's true.

393
00:25:27,040 --> 00:25:28,040
Yeah, you're right.

394
00:25:28,040 --> 00:25:30,240
You know, people do want to get cancer.

395
00:25:30,240 --> 00:25:34,920
So there's other conditions that people are like, well, I what's it going to matter?

396
00:25:34,920 --> 00:25:36,520
Right, right.

397
00:25:36,520 --> 00:25:38,720
And yeah, there's a lot of that out there.

398
00:25:38,720 --> 00:25:39,760
And that's fine.

399
00:25:39,760 --> 00:25:47,560
And also, if you if somebody is good where they're at, no matter what, that's where they're

400
00:25:47,560 --> 00:25:48,840
at.

401
00:25:48,840 --> 00:25:49,840
And that's great.

402
00:25:49,840 --> 00:25:53,600
That you know that there's no judgment there for me at all.

403
00:25:53,600 --> 00:25:57,760
I'm you know, be be good where you're at and wonderful.

404
00:25:57,760 --> 00:26:03,160
But there is also, again, like I said, so many of these conditions that there are underlying

405
00:26:03,160 --> 00:26:07,720
issues that are truly devastating.

406
00:26:07,720 --> 00:26:16,640
And you know, we want to I personally believe that even if we are good where we're at, if

407
00:26:16,640 --> 00:26:23,480
we can provide more information to the science of all of these conditions, then I feel like

408
00:26:23,480 --> 00:26:27,080
we're we're helping in some way.

409
00:26:27,080 --> 00:26:33,920
And I know that I know that at my daughter's age, no matter what is happening scientifically

410
00:26:33,920 --> 00:26:40,120
for the clinical trials and the treatments and the cures that may come five to 10 years

411
00:26:40,120 --> 00:26:45,320
down the line at a gene editing level, she's not a candidate.

412
00:26:45,320 --> 00:26:52,840
And that's that's not even in our that's not something that we're looking forward to treatments

413
00:26:52,840 --> 00:26:54,600
that could improve her quality of life.

414
00:26:54,600 --> 00:26:58,200
Like you said, yes, of course, I want her to communicate more, I want her to be able

415
00:26:58,200 --> 00:26:59,200
to be more independent.

416
00:26:59,200 --> 00:27:01,760
I would love all of that for her.

417
00:27:01,760 --> 00:27:06,120
Because when she's frustrated and upset about something, and she can't express that there's

418
00:27:06,120 --> 00:27:07,480
nothing worse.

419
00:27:07,480 --> 00:27:15,240
But really, we want to be part of the puzzle that can get pieced together to truly advance

420
00:27:15,240 --> 00:27:18,800
the science and help us understand all of these conditions better.

421
00:27:18,800 --> 00:27:21,940
Well, I think that's part of being a part of the community, too.

422
00:27:21,940 --> 00:27:26,040
No matter where you're at in your journey or whatever you want to call it, you know,

423
00:27:26,040 --> 00:27:29,240
older parents are giving knowledge to younger parents.

424
00:27:29,240 --> 00:27:34,240
And those younger parents are teaching us older parents about technology, about all

425
00:27:34,240 --> 00:27:35,240
of these new things.

426
00:27:35,240 --> 00:27:37,840
So we all have something to teach one another.

427
00:27:37,840 --> 00:27:42,520
I really think that because in our community, and I speak obviously about the Angelman community,

428
00:27:42,520 --> 00:27:45,520
but there are some angels.

429
00:27:45,520 --> 00:27:51,680
And I use that term really loosely because Reese can be the devil as well.

430
00:27:51,680 --> 00:27:54,120
But the doctor's name wasn't Dr. Devil.

431
00:27:54,120 --> 00:27:55,120
But it was.

432
00:27:55,120 --> 00:27:56,120
It was Dr. Harry Angelman.

433
00:27:56,120 --> 00:27:58,520
So that's why we have this.

434
00:27:58,520 --> 00:28:04,800
We have angels that are in our community that are 70 years old that are still teaching us.

435
00:28:04,800 --> 00:28:06,500
They are still teaching.

436
00:28:06,500 --> 00:28:09,500
There is something to be said.

437
00:28:09,500 --> 00:28:14,240
She just celebrated her 72nd anniversary or birthday.

438
00:28:14,240 --> 00:28:19,080
And she lives in an assisted living home, but she had all of her friends and family

439
00:28:19,080 --> 00:28:20,080
around her.

440
00:28:20,080 --> 00:28:21,080
And isn't that cool?

441
00:28:21,080 --> 00:28:23,800
Yeah, I want to see that.

442
00:28:23,800 --> 00:28:26,120
And as part of our community, that makes me happy.

443
00:28:26,120 --> 00:28:31,400
I know that there are days where it is not unicorns and rainbows, but I want to be able

444
00:28:31,400 --> 00:28:33,120
to see that kind of stuff.

445
00:28:33,120 --> 00:28:34,120
It provides hope.

446
00:28:34,120 --> 00:28:35,120
Yeah.

447
00:28:35,120 --> 00:28:39,080
And I think Amber gives a lot of others hope.

448
00:28:39,080 --> 00:28:40,080
I know she does.

449
00:28:40,080 --> 00:28:45,080
Well, I'm telling you, there's plenty of now that we're getting more and more diagnosed,

450
00:28:45,080 --> 00:28:50,080
even in our small group, I think we're about nearly around 200 at this point in just, you

451
00:28:50,080 --> 00:28:51,640
know, four short years.

452
00:28:51,640 --> 00:28:56,080
So most though, well, let's talk about that real quick.

453
00:28:56,080 --> 00:29:02,320
So yeah, most most are doing, they might be doing a lot more.

454
00:29:02,320 --> 00:29:04,680
I mean, there's a broad range is what we're finding.

455
00:29:04,680 --> 00:29:10,200
You know, there are some kids that are very, very mobile and can run and jump and climb

456
00:29:10,200 --> 00:29:21,600
and and read at a grade level and speak with verbal communication in ways that I have never

457
00:29:21,600 --> 00:29:23,560
heard my daughter speak, you know.

458
00:29:23,560 --> 00:29:29,320
And on the other hand, we do have kids that, like I said in the beginning, you know, very,

459
00:29:29,320 --> 00:29:38,680
very medically complex kids that are nonverbal, who are not mobile, who are struggling with

460
00:29:38,680 --> 00:29:47,400
seizures, who are struggling with feeding and and tube fed and so lots and lots of variation,

461
00:29:47,400 --> 00:29:49,520
even if we have the same gene mutation.

462
00:29:49,520 --> 00:29:52,480
So we need to understand that better.

463
00:29:52,480 --> 00:29:59,400
But I was going to say, the majority of the kids that are getting diagnosed now with this

464
00:29:59,400 --> 00:30:05,360
particular disorder are very young, because they are getting access to this whole exome

465
00:30:05,360 --> 00:30:11,480
sequencing rather than having to go through this, as I said, odyssey of testing.

466
00:30:11,480 --> 00:30:15,400
We no longer have to test for this and then test for this and then test for this and then

467
00:30:15,400 --> 00:30:19,360
look at this and then maybe it's metabolic and then maybe it's this and then maybe we

468
00:30:19,360 --> 00:30:21,760
wait and see for another five years, right?

469
00:30:21,760 --> 00:30:23,400
It's those days are gone.

470
00:30:23,400 --> 00:30:28,160
Yes, you have access to whole genome whole exome sequencing.

471
00:30:28,160 --> 00:30:33,400
Now not every condition out there is found through that process.

472
00:30:33,400 --> 00:30:38,720
But this one is so and many are so.

473
00:30:38,720 --> 00:30:44,720
But the majority of those kids right now, as I'm watching, are not in the US.

474
00:30:44,720 --> 00:30:45,720
Interesting.

475
00:30:45,720 --> 00:30:46,720
Yeah.

476
00:30:46,720 --> 00:30:53,800
Well, to me, it tells me that is getting access to genetic testing and why.

477
00:30:53,800 --> 00:30:54,800
Yes.

478
00:30:54,800 --> 00:31:02,360
So I've I've been on my own personal crusade to find out why are people not getting more

479
00:31:02,360 --> 00:31:06,640
genetic resources or access here in the US.

480
00:31:06,640 --> 00:31:15,240
And I think from that also come the services and interventions to for that.

481
00:31:15,240 --> 00:31:16,240
Sure.

482
00:31:16,240 --> 00:31:17,240
In each right.

483
00:31:17,240 --> 00:31:19,240
What are those services and where can you access them?

484
00:31:19,240 --> 00:31:26,760
And you know, there is there is a bit of inequity, obviously, in any of this.

485
00:31:26,760 --> 00:31:32,000
So I live in an area where I am close to a geneticist.

486
00:31:32,000 --> 00:31:37,080
I could get or, you know, I'm right here in the Boise area.

487
00:31:37,080 --> 00:31:45,080
If I live one of our families, amazingly lives in a very rural state in a very like seven

488
00:31:45,080 --> 00:31:48,960
hours, seven, eight hours from any anywhere to travel.

489
00:31:48,960 --> 00:31:50,960
Well, look at our families in Alaska.

490
00:31:50,960 --> 00:31:51,960
Yeah, I mean, they know.

491
00:31:51,960 --> 00:31:55,600
I mean, so but this is in the continental US.

492
00:31:55,600 --> 00:32:03,720
But either way, to travel, to see somebody when it's seven, eight hours or just for other

493
00:32:03,720 --> 00:32:09,680
families here in Idaho accessing things like early intervention, our infant toddler program,

494
00:32:09,680 --> 00:32:15,200
even if you're an hour away and there's nobody that can kind of come to your home or you

495
00:32:15,200 --> 00:32:21,200
can't get there, you're going to be behind significantly in either even getting a diagnosis

496
00:32:21,200 --> 00:32:22,880
or getting those interventions.

497
00:32:22,880 --> 00:32:29,560
And so there's a lot that kind of goes into the big picture of why we might not have a

498
00:32:29,560 --> 00:32:32,160
diagnosis or why we might.

499
00:32:32,160 --> 00:32:35,160
And then what happens even if you get a diagnosis.

500
00:32:35,160 --> 00:32:43,880
So you know, and then there are catch all diagnoses like Sarah, your son has a CP diagnosis,

501
00:32:43,880 --> 00:32:51,800
which again, and my cousin who was in his early 50s when he passed, you know, he had

502
00:32:51,800 --> 00:32:53,760
an intellectual disability.

503
00:32:53,760 --> 00:32:59,480
And that was all that there was ever to diagnose him with.

504
00:32:59,480 --> 00:33:05,180
Many, many people because a spectrum get an autism diagnosis.

505
00:33:05,180 --> 00:33:07,120
And that's as far as it goes.

506
00:33:07,120 --> 00:33:13,760
And so if they are a level three autism, which may include not having verbal language and

507
00:33:13,760 --> 00:33:18,240
some other things, are they being referred to genetics?

508
00:33:18,240 --> 00:33:24,460
And a lot of times they aren't and for for again, a number of reasons.

509
00:33:24,460 --> 00:33:31,080
We know that pediatricians and pediatricians sometimes will tell you that they feel that

510
00:33:31,080 --> 00:33:35,040
this is out of their scope or out of their wheelhouse, I should say.

511
00:33:35,040 --> 00:33:39,720
Like they don't feel I've read some studies where they say they don't feel like they don't

512
00:33:39,720 --> 00:33:43,880
they don't know enough about whether what to refer to.

513
00:33:43,880 --> 00:33:47,040
So they wait for developmental pediatricians to do it.

514
00:33:47,040 --> 00:33:48,600
That was absolutely our case.

515
00:33:48,600 --> 00:33:51,120
I knew something was happening.

516
00:33:51,120 --> 00:33:52,360
He was our third.

517
00:33:52,360 --> 00:33:53,440
Something was different.

518
00:33:53,440 --> 00:33:57,960
And I kept telling the pediatrician that and it wasn't until the seizure that got us to

519
00:33:57,960 --> 00:34:03,640
a neurologist that got us to the specialist that the I wholeheartedly believe that we

520
00:34:03,640 --> 00:34:06,600
would have waited and waited and waited.

521
00:34:06,600 --> 00:34:11,120
It was that seizure that was the catalyst that got us into that specialist.

522
00:34:11,120 --> 00:34:15,520
But I agree, our pediatrician was not ever going to make that call.

523
00:34:15,520 --> 00:34:18,640
But sometimes they don't do it because they don't want to refer.

524
00:34:18,640 --> 00:34:19,920
This is what somebody told me.

525
00:34:19,920 --> 00:34:22,040
A pediatrician actually told me this.

526
00:34:22,040 --> 00:34:28,760
They are a little hesitant to refer to a service that might not be paid for.

527
00:34:28,760 --> 00:34:32,120
And they don't want to put that burden on a family.

528
00:34:32,120 --> 00:34:36,880
So you're grappling with a real I don't know, I guess that's almost an ethical debate, right?

529
00:34:36,880 --> 00:34:42,840
Yeah, we get to make the decision on how they could pay for something or or at least try.

530
00:34:42,840 --> 00:34:45,440
Is there a way anyway, like dangling the carrot?

531
00:34:45,440 --> 00:34:47,520
Yeah, there's a lot of barriers.

532
00:34:47,520 --> 00:34:49,440
I think that's just the end point.

533
00:34:49,440 --> 00:34:53,240
There's just a lot of barriers to access for a lot of reasons.

534
00:34:53,240 --> 00:35:01,440
And if I had my magic wand, it would be to provide access to anybody who wants it, because

535
00:35:01,440 --> 00:35:04,400
there are always going to be plenty of people who don't.

536
00:35:04,400 --> 00:35:05,400
Right.

537
00:35:05,400 --> 00:35:07,440
And you don't have to know.

538
00:35:07,440 --> 00:35:12,200
There are others though, in other states, and not here that I've ever seen, but I have

539
00:35:12,200 --> 00:35:18,840
heard from parents in other states that have said, if I get a different diagnosis than

540
00:35:18,840 --> 00:35:26,200
what I already have from a clinical standpoint, like our age of ret syndrome, then we might

541
00:35:26,200 --> 00:35:31,880
lose our services, because that's qualifying their child that diagnosis is the what's qualifying

542
00:35:31,880 --> 00:35:33,600
them for services.

543
00:35:33,600 --> 00:35:40,560
And then something like HNR and pH 2, which is so rare, might not fit into a category

544
00:35:40,560 --> 00:35:45,840
that somebody is saying, yes, that still qualifies you for services.

545
00:35:45,840 --> 00:35:47,320
So, right.

546
00:35:47,320 --> 00:35:53,440
So yeah, because autism, CP, those are those catch all diagnoses that they will fall into

547
00:35:53,440 --> 00:36:00,440
a bucket of, okay, yes, this will potentially help get eligible for certain services.

548
00:36:00,440 --> 00:36:01,440
Yep.

549
00:36:01,440 --> 00:36:02,440
Right.

550
00:36:02,440 --> 00:36:03,440
Magic words, magic words.

551
00:36:03,440 --> 00:36:04,440
Yeah.

552
00:36:04,440 --> 00:36:07,640
So and again, that varies from state to state.

553
00:36:07,640 --> 00:36:13,440
And hopefully some of that is changing again, as we've made improvements in in all of this.

554
00:36:13,440 --> 00:36:21,000
But you know, it's time, time and science, time and science and advocacy, always advocacy

555
00:36:21,000 --> 00:36:22,320
and always parents.

556
00:36:22,320 --> 00:36:27,680
Does anybody have any parting thoughts or something that they wished parents knew or

557
00:36:27,680 --> 00:36:32,560
something that you wish you knew sooner before we go?

558
00:36:32,560 --> 00:36:40,240
I'll start and then I think that we in our minds, bodies and hearts as parents have a

559
00:36:40,240 --> 00:36:43,960
sixth sense and intuition.

560
00:36:43,960 --> 00:36:54,440
And to not ignore that as a as a parent, searching for for an answer or just for peace of mind

561
00:36:54,440 --> 00:36:59,640
that listen, listen and continue to ask questions.

562
00:36:59,640 --> 00:37:06,600
Trust your mom or your dad trust your trust that gut of yours, because we're usually we're

563
00:37:06,600 --> 00:37:08,080
usually right.

564
00:37:08,080 --> 00:37:11,000
Even if we don't want to be, I don't think any of us wanted to be.

565
00:37:11,000 --> 00:37:13,000
Yeah, no, I mean, no, I didn't.

566
00:37:13,000 --> 00:37:15,920
So yeah, it was the only time I wanted to be wrong.

567
00:37:15,920 --> 00:37:16,920
Right.

568
00:37:16,920 --> 00:37:17,920
I know.

569
00:37:17,920 --> 00:37:18,920
Yeah.

570
00:37:18,920 --> 00:37:26,400
So I don't I think I've already said everything that is parting words.

571
00:37:26,400 --> 00:37:31,560
If somebody doesn't know how to access genetic testing and that's something that they want,

572
00:37:31,560 --> 00:37:38,000
then hopefully they'll contact us or a parent center in your own state or region.

573
00:37:38,000 --> 00:37:39,000
Absolutely.

574
00:37:39,000 --> 00:37:42,560
Yeah, I wouldn't add anything that we haven't already said.

575
00:37:42,560 --> 00:37:44,440
I'm thankful that I had access to it.

576
00:37:44,440 --> 00:37:48,040
I'm thankful I didn't ever have to fight for it.

577
00:37:48,040 --> 00:37:50,400
And it came to us really easily.

578
00:37:50,400 --> 00:37:53,400
I know that I am not.

579
00:37:53,400 --> 00:37:54,400
That's not normal.

580
00:37:54,400 --> 00:37:59,680
I know I recognize that my privilege in that that we got a diagnosis so quick and and then

581
00:37:59,680 --> 00:38:08,440
everything started very much falling into place for us.

582
00:38:08,440 --> 00:38:13,760
Thank you so much to everyone out there in podcast land for listening in.

583
00:38:13,760 --> 00:38:21,600
If you are in Idaho or planning on moving to Idaho and have any questions on systems

584
00:38:21,600 --> 00:38:27,440
or services for children with disabilities, please reach out to us on our website at I

585
00:38:27,440 --> 00:38:30,080
pull Idaho dot org.

586
00:38:30,080 --> 00:38:41,640
That's I P U L Idaho dot org or by calling us at 208-342-5884.

587
00:38:41,640 --> 00:38:45,240
Until then, this has been unlimited parenting.

588
00:38:45,240 --> 00:38:52,000
Thanks for listening.