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Spotlight On: Drs. Partridge, Morrison, and Khor

Spotlight On: Drs. Partridge, Morrison, and Khor

We are so fortunate in the Puget Sound area to have an amazing trio of doctors who are working collaboratively to improve healthcare and outcomes for individuals with Down syndrome.  We interviewed Dr. Rebecca Partridge, one of the DSC’s newest board members and the creator of Virginia Mason’s Down syndrome program, her colleague Dr. John Morrison who helped her expand that program beyond pediatrics, and Dr. Bernard Khor of Virginia Mason’s Benaroya Research Institute.

Q: What was the inspiration for the Down syndrome program at Virginia Mason?

Dr. Partridge: The inspiration was definitely my son, Joshua!  I moved to Seattle in 2009 to work at Seattle Children’s and immediately wanted to know how to get him the best medical care.  Although there were great doctors, there wasn’t a location to provide him the coordinated expertise he needed.  In October 2012 I moved to Virginia Mason with the dream of developing a program to provide excellent care to all people with Down syndrome since it was such a gap in our community.

Q: What are you proudest or happiest about with the reception of the clinic/program in our community?

Dr. Partridge: The community support inspires me.  The way families are committed to the best for not just their loved one makes me feel like I am part of a whole community.  I love seeing connections develop between families and resources.  We are stronger together as we work toward our goal of creating the best lives for our families.

Q: People often ask if individuals with Down syndrome need to be seen in your clinic even if they are happy with their current primary care physician – what is your advice?

Dr. Morrison: Strong relationships are important in primary care, and I don’t want to replace a primary care physician that you love. That being said, I do think occasional consultation with our clinic is helpful to address and monitor clinical issues that are specific for Down syndrome – similar to occasionally seeing a specialist for an ongoing issue. We can also help coordinate care with other specialist that many people with Down syndrome need to see, such as audiologists or sleep medicine.

Dr. Partridge: One of the best parts of my job is getting to play different roles for different families.  For some families it works for us to function as their primary medical care home.  For others, we serve as consultants, especially if they far away, although virtual visits are making this easier.  Our entire team is committed to providing the most up to date care in a coordinated fashion.  As a parent myself, it’s unbelievably difficult to keep up on everything my own children need.  We are able to coordinate not just visits with a doctor, but also the most experienced clinicians – audiology, ophthalmology, sleep medicine, otolaryngology and more and ensure every patient’s health care needs are met. 

Q: You’ve been a pediatric clinic for several years – can adults with Down syndrome be seen in your clinic?

Both doctors respond “Absolutely!”

Dr. Partridge:  It’s been fascinating how my own needs as a parent have helped our program evolve.  My son is now 18; he needs a great doctor too!  With Dr. Morrison joining our team, we can provide care for people with Down syndrome from before birth through end of life.  We never have to tell people they have “aged out.”  Your team is with you every step of the way.

Dr. Morrison: I am a board-certified internist and pediatrician who joined the Down syndrome program in 2019 to help care for patients with Down syndrome as they transition to adulthood and beyond. Dr. Partridge and I work closely together, and with our team, we provide comprehensive care for people of all ages.

Q: How did you become interested in or involved in working with Down syndrome?

Dr. Morrison: I’ve long had an interest in medical care for children and adults with complex health needs, and particularly in these patients’ transitions into adulthood. I joined the Down syndrome program last year after discovering the passion and hard work Dr. Partridge had already put into it. I now get to follow my professional interests with a great group of patients, and a wonderful team committed to great patient care.

Dr. Khor: I’ve been interested in inflammation and autoimmunity for many years. A chronic problem has been inadequate control of disease in many patients. This tells us that we need more drugs and the ability to understand which drug to use in which patient. I spearheaded a unique effort to look for new druggable genes that regulate the differentiation of T cells, which are master regulators in autoimmunity, and stumbled upon a new druggable gene (DYRK1A) that turned out to be a very important gene in Down syndrome! This led me to learn what I didn’t learn in med school – that people with Down syndrome are at much higher risk of autoimmunity, which are chronic diseases that can severely impact quality of life of patient and caregivers. The increasing lifespan in Down syndrome means that autoimmunity is becoming a very important and relevant problem, but it remains very poorly studied. Our work suggests that DYRK1A inhibitors might be especially useful to treat autoimmunity in Down syndrome and we are actively pursuing this research, but we are also committed to more broadly understanding why people with Down syndrome are predisposed to autoimmunity, how autoimmunity in Down syndrome should best be treated, how this therapy might differ from the typical population, and eventually how to prevent people with Down syndrome from getting autoimmunity!

Q: You also teach a puberty class hosted by the DSC specifically for children and teens with Down syndrome – what age is that geared for and what should we know about it?

Dr. Partridge: Understanding Adolescence and Puberty is geared for anyone who needs the education.  Children as young as 7 attend, as do adults in their 20s.  I felt like I had to “reinvent the wheel” talking to Josh about puberty, so I decided to share what I learned, what worked, and what didn’t.  Now that he’s getting older, stay tuned for the next class, there’s always more to learn!

For more information or to register for the upcoming puberty class in July-August, click here  https://downsyndromecommunity.org/programs/understanding-adolescence-puberty/

Q: How does your clinic work with the Benaroya Research Institute?

Dr. Partridge: Benaroya Research Institute and The Down Syndrome Program at Virginia Mason work hand in hand.  It’s great to have a team working toward the goal of making the lives and health of people with Down syndrome better.  Families can learn about research opportunities during a clinic visit or can choose to enroll.  We welcome everyone’s participation in research, even if you aren’t seen at Virginia Mason!

Dr. Khor: After interviewing successfully across the country, I came to Seattle specifically because of Benaroya Research Institute’s longstanding expertise in collecting samples from participants and Dr Partridge’s unique clinic setup and her passion for research. What this means is that we’ve been able to do productive research starting with the very first sample donated! We have a dedicated staff who works with families interested in participating in research, whether in Dr Partridge’s clinic or not, ready to walk them through the consenting and collecting process.

Q: What research are you engaged in that involves or benefits individuals with Down syndrome?

Dr. Khor: Our research focuses on understanding how the immune system in people with Down syndrome works differently. The major thrust is to understand how these differences predispose them to autoimmune diseases (e.g. type 1 diabetes, hypothyroidism, psoriasis, celiac disease, and over 85 others!), how autoimmunity in Down syndrome is best treated, and ultimately how we might prevent autoimmunity in Down syndrome. In terms of therapy, I’m always thinking about (i) precision medicine, i.e. of the many medications out there, which are the ones we should reach for first in Down syndrome, and are these choices different than in people without Down syndrome, and (ii) novel therapeutics, i.e. what new drugs might be useful to treat autoimmunity in Down syndrome (e.g. DYRK1A inhibitors), recognizing that these drugs might also benefit subsets of the general population.

I think it’s important to point out that this work is fundamentally about studying the immune system. This has obvious immediate applications to autoimmunity, but also to many other important life aspects or diseases relevant to Down syndrome, including (i) vaccination, (ii) infections, including COVID-19 and (iii) Alzheimer’s disease. These are all of interest to us and we are happy to share our understanding with the Down syndrome community.

Q: How can we participate in the research you are doing?

Dr. Khor: This is very much a collaborative effort! It’s so crucial and unique that we’re working with samples from human participants, so that we keep our research grounded in actual things going on in people! We have multiple ways for people to participate – in addition to asking Dr. Partridge, Dr. Morrison, or myself (and our team is at many Down syndrome events like the Buddy Walk), you can email [email protected]. Important things not immediately obvious: We need participants with Down syndrome and without Down syndrome, so parents and siblings are an important part of this effort! We also need participants with autoimmunity and without autoimmunity. To understand how the immune response is broken, you have to understand what it looks like when it’s healthy, so everyone has a vital role to play! Participants don’t have to be patients of Dr. Partridge or Dr. Morrison, and we are constantly offering ways to collect from spots convenient to participants.

For more information about the Benaroya Research Institute’s work relating to Down syndrome, click here https://www.benaroyaresearch.org/tags/down-syndrome