Why the Down Syndrome Community Needs to be Involved in Scientific Research

As a recent graduate from UC San Diego in General Biology, I have taken an interest in scientific research while working in Rob Knight’s lab for microbiome research. With the various health complications that Michael has experienced while we were growing up, I have fallen in love with medicine, and have future prospects of delving into integrative medicine in the upcoming years.

 

Through all of these years with Michael in my life, I always asked myself,

 

“Why  is the Down Syndrome community important? Why do we need to keep individuals who have Down Syndrome in our society?”

 

After growing up with Michael, it’s the genuine kindness and love that radiates from these individuals that’s what our society needs today. As many other individuals who have DS, Michael expresses love to others in an inclusive manner, and doesn’t care about someone’s appearance, their sexual orientation, their race, or gender. Our world today needs more loving, and individuals who have DS are the prime leaders in this.

 

But, these individuals are even more important than many realize. They may hold some answers in treating cancer, stroke, and other conditions. And this not only applies to helping the general population.

 

 

Rather than “curing” Down Syndrome, I seek to find medical treatments to alleviate symptoms that are co-morbid with Down Syndrome, while providing a means of improved public health recommendations for these individuals. All in order to improve their quality of life.

 

Just in the 1980’s, the average life expectancy for an individual who has Down Syndrome was around 25 years. Advances in research have helped alleviate symptoms of other diseases that are co-morbid with Down Syndrome, including congenital heart disease, hyperthyroidism, and gastrointestinal problems. Nowadays, these individuals have a life expectancy around the age of 60 and can live more fulfilling lives.

 

Did you know that individuals who have Down Syndrome are protected from coronary artery disease, hypertension, and most solid tumors, including breast, colon, and skin cancers?

 

Interestingly enough, scientists have discovered that individuals who have leukemia but do not have Down Syndrome have  a part of the 21st chromosome amplified. This section of the 21st chromosome may carry a “leukemia oncogene,” which is essential for scientists to study. Not only could this alleviate the amount of cases of leukemia seen in Down Syndrome, but this information could also be essential in treating Leukemia among the general public

 

Joaquin Espinosa, who runs the Espinosa research lab at the University of Colorado Denver, specializes in Down Syndrome and cancer research. His team is currently finding ways to alleviate co-morbidities found with Down Syndrome. He also passionately writes about the importance of including persons who have Down Syndrome into scientific research, as funding for Down Syndrome research is considerably lower than for other conditions.

 

I am also ecstatic to share that we have created a Down Syndrome cohort in the American Gut Project in our lab! I work in Rob Knight’s lab specializing in microbiome research, and the microbiome of individuals who have Down Syndrome is not well understood. Many of the comorbidities seen in Down Syndrome can be treated, and alleviate some of the symptoms that individuals who have DS may experience.

 

You can donate to our project here. Any contribution would be greatly appreciated and helps make a difference :)

Julia ToronczakComment
Communicating with Michael

Hello everyone!

Hope everyone's been doing great! For today's blog post, I wanted to talk about Michael's progress with his communication skills.



As some of you may know, Michael is non-verbal and can't communicate with words like we do. He has an incredible sense of understanding, and even though he doesn’t form words, he's vocal in the sense of humming or grunting. Regardless, he’s most fluent in the most important language- the language of love.

Since Michael communicates with us without words, it’s essential that he communicates with us through reading our expressions and with a sense of feeling. He is incredibly sensitive (as are my mom and I). For anyone who knows an individual who has Down Syndrome, they’ll know that these individuals have an incredible sense of stubbornness- Michael included.



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Ask or tell him to do something in the wrong tone-- and forget it. He will sit, pout, and do absolutely nothing. If you’re in a rush, let’s say for school, or for a doctor’s appointment, then too bad. If you even dare rush Michael when he wants to move slowly, he’ll move even slower.




This is exactly why we talk to him in a soft manner. He’s incredibly sensitive. He picks up emotions and energies-- how else would be communicate with us without words? We are in no way babying him, as he is capable of doing so many things on his own. But once more, we need to approach him in an appropriate manner that fits his needs.



If he’s sick or not feeling well, we can tell since he’ll seem a little off. He won’t smile, he’ll move really slowly, and in general look upset. If he wants something from us, he’ll usually come up to us on his own, but this doesn’t happen too much. Michael LOVES keeping to his routine, and getting out of routine is incredibly upsetting for him.


As for alternative methods of communicating with us, Michael did have an iPad during high school, with various communication apps. From what I remember Michael was not a fan— if I’m being honest, it really felt like he would just touch anything on the screen so that the iPad would be out of his face.


When I was living outside of home during college, Michael initially disliked talking on the phone, or skyping with me. However, over the past few years he’s really gotten the hang of it.



Video chatting has worked so well with us over the past few years. He loves “chatting” with my aunt from Poland that he’s never met. Especially since she loves talking, Michael is so entranced and enamored by her.



While I was travelling in Europe this past summer, this was an incredible method for us to keep in touch. Although he initially wouldn’t look at me for the first 10 minutes of our calls, when he’d eventually get over being butt hurt he’d be so ecstatic to have a way to communicate. It’s enthralling to hear his giggles and spot his smiles while chatting from so far away.



If you have any questions regarding Michael's communication, feel free to comment below or send in a contact form :)

 Videochatting with Michael when I first landed in Europe… did not go so well.

Videochatting with Michael when I first landed in Europe… did not go so well.

 Videochatting with Michael in Europe a few days later after ~10 minutes… finally got a smile!

Videochatting with Michael in Europe a few days later after ~10 minutes… finally got a smile!




Julia ToronczakComment
Why Beyond the Waves


For all the years I have been running this blog, I just stumbled upon the fact that I never explained the why behind the name and our logo. For those who are just joining our story, or have always been following along, here’s our why.

 

Michael loves the ocean waves. It’s always kept him grounded, especially while I was attending university at UC San Diego. Our transition to living apart 4 years ago was devastating for Michael. Each weekend when he would come and visit with my mom, he was so upset he wouldn’t look at me the first 15 minutes we were together. Once it was time for him to go home, he would always have tears in his eyes. It always broke my heart.

 

It broke my heart, since I had no way of letting him know what was going on. The reason I chose to stay in school in San Diego, was so I could stay close to Michael. He didn’t understand why I wasn’t at home anymore. I didn’t have a way of explaining that I was away studying biology in school, and that it was to prepare for even bigger dreams in the future.

 

But one thing strengthened our bond and kept Michael calm and grounded during our visits-- the ocean waves.

 

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The repetitive motion, their white noise, and the beauty behind them consumed his attention, and made him forget about our situation. The beach became a perfect place to visit, as it was so close to our campus.

 

Yet for those who have swum in the ocean-- you know that waves can be rough. Being caught in a rip current with tall waves can be terrifying, especially if you can’t see the next wave coming.

 

But, if you look at the waves from afar, it’s easy to fall in love with the waves and become entranced with their beauty. And the same goes for growing up with someone who has Down Syndrome.

 

Everyday won’t be easy. Sometimes tough situations or hospitalizations come in waves, with barely any room to simply breathe or relax to take care of yourself. But by looking beyond the waves, I’m blown away by how much Michael has enriched my life. I continue to be blown away by his genuine kindness.

 

I have learned the importance of keeping the Down Syndrome community, and to raise awareness and provide a voice for those who need it.

 

As for our logo, I’ve included three waves, to represent the three 21st chromosomes present in Down Syndrome.

 

 

Julia ToronczakComment
Multilinguality Among the IDD Community

Hello!

For this week's post I'll be doing a follow up from last week regarding bilinguality among members in our community. Believe it or not, many of those with IDD (intellectual or developmental disability) can speak or understand multiple languages!

I asked our community if their loved one is also bilingual, and got so many lovely responses! And what's even more incredible, is that some of these individuals can even understand up to four different languages!

It's so inspiring to see other individuals with IDD proving that they're capable of anything. Especially after learning that about 40% of the world population is monolingual! (1) 

Rather they allowing their "disabilities" to hinder them, these individuals instead motivate themselves to accomplish anything they set their mind to. 

You can find the responses from around our community below!


 

Desi

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Fluent: English and ASL, with some dabbles in Spanish and Korean

Hannah has been so proud of her sister Desi, and reveals:

"I can't explain the absolute joy and pride it brings me when I get to speak about her accomplishments. When we got her 2 years ago she had no verbal, visual, or body language of any type. She did not even know when to cry. Now today she is so extremely expressive, and with that comes sass beyond compare, but it's all a cherished milestone!" 

Ian

Fluent in: English and Spanish, currently learning ASL

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Ian's mom, Nancy, shares her thoughts regarding her 3 year old son's ability to grasp other languages:

"My husband is a Spanish teacher and has always loved languages. When we started a family, we agreed he would speak to our children exclusively in Spanish. I'll never forget the first time I realized our oldest could understand directives in both languages, around a year old. When we had Ian and he was diagnosed with Down syndrome, I remember we both shared the same fears about what the diagnosis would mean for his life, and chief among those was the concern that Lucas would not be able to continue his Spanish with the kids.
We asked our geneticist about this and he loved the question and dug into it for us. Unfortunately, he found there were no studies regarding the success of dual languages in kids with Down syndrome. He encouraged us to go for it: dual language for typically developed kids only provides benefits, why not for Ian?
I'll never forget when I realized Ian understood directives in both languages, around a year old! And as his verbal expression emerges, it is mirroring his sister's--he chooses to use Spanish words when it is easier or more familiar."
 

Kevin

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Fluent in: English and Spanish, some sign language

His older sister, Karina, shares her perspective regarding his communication ability:

"My little brother Kevin was raised in a bilingual household so he understood both English and Spanish. Because he had trouble expressing himself sometimes verbally he also learned to use some sign language. Therefore, not only would he use English and Spanish words interchangeably but also incorporated signing.
He never ceased to amaze me, such an intelligent individual. He knew to speak to my parents in Spanish and to his siblings and at school in English. Despite some of his limitations with expressive language, he was very well aware of body language and being able to pick up the emotions of how someone was feeling."

Yoel

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Fluent in: Spanish and English, learning ASL

His mother, Michelle, shares with me how she's continually inspired by him:

"I am the mom to an awesome boy who has Ds and who also knows two languages, okay, THREE. He is able to talk both in Spanish, English, and also knows some ASL. I think he’s consider a trilingual. That’s Pretty amazing 🙌🏼"

Andres

Fluent in: English and Spanish 

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"My brother Andres has DS and is non verbal but he understands both English and Spanish perfectly well. Spanish was his first language. He learned English when he was around 7 or 8, when my family moved to the US. He was primarily spoken to in English at school.

At home we mostly speak to our parents in Spanish, so  by default, also to Andres. Even if my siblings are speaking in English to each other, we revert to Spanish to speak to him. Which is silly since he understands both, but we can’t help it!

He loves watching Spanish novelas and fútbol on Univision, his favorite channel (he doesn’t like any other Spanish network), but also loves the original Hulk tv series and anything Whitney Houston (we’ve seen the Bodyguard over 1000 times and listens to her greatest hits album on loop for years 😂).

When we first moved to the US, my mom was advised to stick to only English with Andres, since he is non verbal, but also on the lower functioning end of the DS spectrum. My mom was adamant on him understanding Spanish, since at the time it was her primarily language. It was the only way he would be able to communicate with our family back home, so she stuck with speaking to him in Spanish at home. His English was reinforced at school, therapy and education tv programs.

Many people who first meet Andres are very surprised to learn he understands both languages, especially since he doesn’t speak. When they first meet him and see that we speak to him in Spanish, they assume right away they need to do the same. We tell them to speak to him in whatever language is easiest for them. He will accommodate to them 😉.

 

Something interesting to note- if we trying to get his attention and Andres refuses to cooperate after a few attempts, all we simply to do is repeat it English and he automatically listens! We think it’s because he associates english with school, a stricter environment than at home. It’s crazy, but once we start to speak in English to him, he knows we mean business 😂😂!

 


 

Jaime

Fluent: English, Spanish, Gallego, ASL

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His mother proudly shares:

"Jaime “DeeDee” is 3 years old, and knows English, Spanish, Gallego (a language spoken in Galicia/North-Western Spain) And basic ASL. At first I was nervous that it would be to much for him. Learning 1 language is hard; now throw in a few more and top it off with an intellectual disability. To no surprise he has shown he is capable. I’m proud he’s able to experience our culture and be included."

Tori

Fluent in: English and Spanish

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Her sister, Kelli, proudly shares:


"So my mom is Hispanic and we grew up with her only speaking Spanish to us, but we also understood English. So that was a cool thing, going to the grocery store and my mom asking Tori something in Spanish and her responding in English! I love it because it shows how extraordinary tori is. So many “normal” people struggle to learn languages and my sister with a “disability” seamlessly flows from English to Spanish."
 

Elena

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Fluent in: Polish, English

Elena's mom, Olga, proudly voices her thoughts regarding Elena's abilities:

"I am bilingual (my mother tongue is Polish) and I always planned on speaking to my children in Polish. We learned about Elena’s diagnosis after she was born, and due to all the limitations the doctors made me aware of, I was hesitant to speak to her in Polish.
Despite everything, I persisted and spoke Polish to Elena. Although she is not speaking yet, she understands both Polish and English and responds back to us using sign language. She has a wide range of vocabulary ( Polish and English) and swiftly shifts from one language to the next.
My daughter has taught me to never underestimate her abilities. She is clever and able to learn multiple languages. Currently she is attending a french daycare."

*Citations

(1) http://ilanguages.org/bilingual.php

Julia ToronczakComment
Michael's Bilinguality
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Hello everyone!

For this week's post I wanted to talk about Michael's bilinguality-- yes, Michael understands two languages! Since my parents are from Poland, we only speak Polish at home. Therefore, Michael can understand a lot of things in both English and Polish. 

Like I've mentioned in earlier posts, Michael has an incredible sense of understanding-- although he may not understand what you're telling him word for word, he can feel the emotions behind the words, and recognize if things are being said out of love, anger, happiness, etc. He may not be able to understand each individual word in both languages, but he can easily sense the emotions coming from them.

In both English and Polish, he understands phrases like "drink water," "go to the bathroom," or "put this away." If we ask him if he's happy or sad in either language, he'll still give similar responses from each language.

He caught on to understanding both languages, since we would repeat phrases twice, once in English, and again in Polish. That way, he grew his understanding of each language. 

Considering that not every person without an intellectual  or developmental disability can speak or understand two languages, it shows that persons with Down Syndrome (or any other intellectual disability) are capable of the same things any other person can do.

And Michael's not alone! I remember a couple of other students in his classroom in high school also understood a couple of languages. Does your child with IDD also know another language? Let us know in the comments!


Now I couldn't say which language Michael understands better, but either way, he has no problems between switching languages. If you have any comments/questions, feel free to submit a comment or submit a contact form :)

Traveling with Michael

Hey everyone!

I'm so excited to be back from traveling in Europe the last month. A lot of people asked if Michael would ever visit Poland one day, and I really do hope so. A majority of our family lives there, and Michael's got so many relatives that love him and wish to see him one day. 

For this week's post, I wanted to talk about how we travel with Michael. He loves going on adventures and visiting new places, but the traveling part comes with some challenges.

In particular, the hardest thing is taking Michael to the bathroom. Michael used to only be able to go to the bathroom at home and at school, and would hardly ever go anyplace else. This made it challenging when we would travel to Yosemite as kids, since Michael would sometimes manage holding it for 8 hours until we got to the campground. Even after waiting at multiple rest areas, Michael wouldn't go to the bathroom. 

Recently he's been doing much better about going to the bathroom outside of his comfort areas, but he's never been on an airplane. Sitting on a plane for hours is miserable enough for us already, but it would be especially difficult for Michael. I honestly have no idea how he would handle sitting in the small seats, or if he would even want to walk into the plane in the first place.

There are times where Michael doesn't even want to walk into a new friends house, and we'll have to calm him down for a few minutes until he'll actually want to walk in. There's no telling how he would behave while trying to board a plane with a bunch of passengers. Since he also hates the sound of kids screaming, if a baby was on the flight he'd also have a rough time dealing with that. As for how he would react with turbulence, I'd assume he would start panicking, so it would be in our best interest to consciously sedate him (like many dentists do for kids who are too anxious).

With that, I'm not sure if we could ever do a trip to Poland with Michael anytime soon (even though trust me, it's definitely on my bucket list to show him the world), it's a great thing that Michael already lives next to his favorite thing-- the ocean!

Maybe one day in the future we can figure something out with him travel farther, but as of now, we'll continue taking advantage of our opportunity to explore Southern California :)

 

 Back from an old trip to Yosemite when we were younger 

Back from an old trip to Yosemite when we were younger 

 Facetiming with Michael during my recent trip to Europe-- it was so nice to get a smile out of him! :)

Facetiming with Michael during my recent trip to Europe-- it was so nice to get a smile out of him! :)

Julia ToronczakComment
July Q & A

Hello! For this week's post I'm answering a couple of the questions from my last Q&A post! I'll be including the rest in the future, along with other Q&A posts. Thank you to all who asked :)

Q: How old was Michael until we knew how severe his condition was?

Given that children with Down Syndrome develop slower than other children, we didn't really understand the severity of his condition until Michael was about 4 or 5 years old.

Since I was growing up alongside Michael, my parents had an easy comparison for Michael's development. While I started walking at 9 months, Michael took his first comfortable steps at age three. Michael didn't start talking until he was about 18 months old, but then his progress began to decline.

Since we were 3, Michael hardly says any words. If he's upset or hurt he'll manage to say "Mama," and in High School he would repeat "Hooray!" after someone. Otherwise, Michael is very intelligent, but lacks the ability to communicate vocally or through sign language.

 

Q: How did Michael learn how to speak when we were growing up?

We would practice everything together, but he would practice the same way that I would. We would watch tv together, especially Sesame Street and Barney, and had a bunch of fun little toys that would teach the alphabet.

When we were about 18 months-2 years old, he would repeat small words with us while we were playing, but gradually stopped attempting to speak afterwards.

As of today, the only words that I've heard him say are "Mama," "Hooray!" and "Julia." Honestly the one part that I struggle the most with with being Michael's twin is watching him being unable to communicate. You can always tell that he's trying to say something, but doesn't know how to say it. He'll tap you on the shoulder or keep pushing you, but nonetheless won't be able to tell you anything verbally.

We do have a very strong connection, and personally I do believe that twins can be a little "telepathic." We understand each other's feelings well, and always enjoy each others presence.

 

Great Opportunities to Swim for Children Who Have Special Needs

Hello!

 Michael loves to go swimming at the Canyonview Aquatic Center at UC San Diego. It's very calm, clean, and a beautiful facility with the best hot tub you can find. 

Michael loves to go swimming at the Canyonview Aquatic Center at UC San Diego. It's very calm, clean, and a beautiful facility with the best hot tub you can find. 

As a past collegiate swimmer for UC San Diego, swimming has had an immense impact on my life. Michael may love watching the ocean waves, but that boy loves his time in the water. Rather than swimming the strokes, he loves to just get in and kick around on some noodles on his back. We haven't enrolled him into lessons before, but as a past swim instructor, I feel more comfortable taking him swimming. 

 For this week's blog post I'm going to share the perspectives of a couple friends of mine who are influential coaches to special needs children. One of them, Leslie, is a Special Olympic Coach and swim instructor for the St. Madeleine Sophie's Center, who I also had the pleasure of teaching swim lessons with a few years ago. The other, Jaimie, an old teammate of mine from UC San Diego who is the coach for the UC San Diego Special Olympics team. 

I highly recommend enrolling your child in a Special Olympics program, or enrolling in swim lessons at the St. Madeleine Sophie's Center if you are in the San Diego area. The benefits that special needs children receive are incredible. They not only impact their own lives, but the lives of the many coaches and volunteers around them.

Below I've included an interview that I had with Leslie and Jaimie:

1. What do you love most about coaching/teaching adaptive athletes? 

Leslie: I love coaching/teaching adaptive athletes new skills, along with improving their swim skills. 

Jaimie: My favorite part about coaching Special Olympics is the relationships I form with my athletes. There is really something special about coaching these kids. They genuinely work hard and always try to do their best. 

They are also so enthusiastic! Finishing one lap can be a time for celebration. They are so receptive to encouragement and you can physically see the effects that a simple high five can have on their attitude and demeanor. Honestly, every practice is so rewarding and humbling. It's definitely my favorite part of the week because I get to put my energy into coaching where I help build their confidence, improve their swimming, and let them have some fun!


2. What reactions do you usually see from the athletes throughout the season, and how do they react to their improvements


Leslie: I see a lot of different reactions and responses from athletes throughout the season, from frustration to excitement.

J:  My swimmers respond and celebrate immediately after any success, such as completing a lap of a new stroke or learning a new technique. The most joy I see from my swimmers is at our end of our season swim meet. My swimmers can't wait to swim their races! After they swim, they immediately sprint to the award stand to wait for their medals. It's a really awesome experience to witness their pure joy and pride when they display the medal around their necks.


3. How are the athletes like with their teammates?

Leslie: The athletes become close with most of their teammates. They cheer each other on at swim meets, encouraging each other and even hanging out.

Jaimie: My athletes who train together are all friends! They encourage each other while promoting an atmosphere of friendly competition.


4. What would you say to parents who are thinking about signing up their kids for swim lessons/Special Olympics?

Leslie: I would encourage parents to sign their kids up for swim lessons to improve their swim skills. I would also encourage them to participate in Special Olympics where they'll learn to compete as an individual as well as a member of a team.

Jaimie:  I recommend Special Olympics to any parent even considering getting their children involved. There are so many sports to participate in and no previous experience is necessary! Special Olympics encourages athletes of all skill levels. For instance, one of our swimmers who competed at the meet had stepped in a pool for the FIRST TIME just 2 weeks before the competition! Special Olympics really is an incredible experience for everyone including athletes, coaches, and parents.

 At the recent Special Olympics 

At the recent Special Olympics 

 

 

Julia ToronczakComment
Graduation
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This past weekend I had my graduation ceremony at UC San Diego. Michael and my mom joined, and he behaved so well! For being around a large crowd in a new environment, I'm so proud of him for being so patient during the long ceremony.

I'm not sure whether or not Michael understands the concept behind graduation ceremonies. Regardless, my mom said he smiled when she told him that they announced my name. 

For this post, I wanted to reflect upon our high school graduation 4 years ago, where I got to walk with Michael up to the stage.

Michael technically did not "graduate" with a diploma. Instead, he got a certificate for his completion of High School, and did not receive his actual diploma until this June, after finishing up his transition program at our neighboring high school.

Beforehand we were a little worried that Michael would not want to walk up to the stage, and that he would get irritated from all of the noise, but luckily we had our own way of circumnavigating that issue. Our school district had given some of the students with special needs iPads, so that they could communicate in a different manner. Since Michael excels by learning through example, we'd always take videos of how to do things on the iPad, replay them for him, and then he'd easily understand the concept.

After filming how we'd walk onto the stage during graduation practice, Michael initially wasn't looking forward to walking up. However, after watching the videos multiple times the night before, Michael was ready to go. 

Even in the hot San Diego sun, Michael was incredible. He walked with us without any issues, and when the time came to go up on stage, Michael walked through without any issues. 

I'm so proud of Michael and his patience. I continue to be filled with gratitude with his ability to overcome new hurdles outside of his comfort zone. 

 He might have not wanted to show a smile, but I'm so proud that Michael made it onto the stage for graduation :)

He might have not wanted to show a smile, but I'm so proud that Michael made it onto the stage for graduation :)

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Julia ToronczakComment