Many will already recognize “lagniappe” as a commonly used word; for me, the word has a whole new meaning since Hudson was born. Lagniappe (lan-yap): “Something given as a bonus or EXTRA gift” and the cajun meaning is “a little EXTRA”.
Hudson is lagniappe.
Our family received lagniappe the day he was born.
Down syndrome is lagniappe.
This entire journey and those on it with me are lagniappe.
I could go on and on.
It's the NOLA-call for receiving anything extra, or better yet, receiving something for free. So Hudson’s love is a perfect example of this…. It’s free, it’s extra and it makes the world better.
In June, I had the privilege of attending the National Down Syndrome Congress Convention in New Orleans… IN PERSON! It was four fun-filled, educational, energizing days of truly connecting with my Down syndrome family. From doctors, research teams, families, new technologies and future research, I learned so much and I am so encouraged.
All Down syndrome research has been lacking in funds and support. In a typical year, 80 million would be the most raised to conduct the research done. So this resulted in few studies and certainly none being conducted routinely. To put in perspective, Autism research typically has 200-250 million per year. So the difference is huge, until now. Down syndrome research is expected to hit 150 million this year and we have 8 studies going on now to improve the quality of life and the why the extra chromosome causes more medical needs. I will tell you that I had been asked to participate in a study while living in Colorado. I was pregnant and the research team came daily to my hospital room during my heart failure. I, then and now, would only participate in needed and good research. I would not ever help in early detection of Down syndrome to provide information that would lead to an abortion. But research that is good, inclusive and improves life, I am all in as long as the integrity of the study is only for benefits of the person born or being born with Down syndrome. I am saying this because the research that is being done is good. Research to help prevent or prolong the affects of Alzheimers, studies to learn about sleep apnea and treatments, studies to help medicine and therapies, and so much more.
Why research is important:
People with Down syndrome have a different “disease spectrum”. The 6 million human beings alive today with Trisomy 21 need bold solutions to many major medical conditions. Autoimmunity, COVID-19, Alzheimer’s, Leukemia, Autism, Seizures, Congenital Heart Defects and more. Research is not a quick process. Most trials in a translational science start in a petri dish to an actual clinical trial in 4 years. Then once effective and safe in clinical trial, it then moves to regulatory approval and medical care. So the more funding, the more that can be in the works for our friends. It takes money, time and willingness to participate.
What we have learned:
>60% of adults with Down syndrome have been diagnosed with at least one autoimmune condition
50% of people with Down syndrome display hypothyroidism, attributed to autoimmune thyroid disease
25% of people with Down syndrome have been diagnosed with one or more autoimmune skin conditions
10% of adults with Down syndrome have been diagnosed with celiac disease
Type 1 diabetes, “Down syndrome arthopathy”, and other, more rare autoimmune conditions are also more common
So with this information, the question becomes “Is there a way to stop this autoimmune attack?”
I am in no way medical, but this research is easy to understand. When you have an extra copy of a chromosome, especially the 21st chromosome, you can determine that 4 of 6 interferon receptors are encoded on chromosome 21. So basically it creates receptor “overdose”. This leads to “over-reaction” throughout the immune system. Even in the general population, interferon hyperactivity is known risk factor for autoimmunity. Chronic interferon hyperactivity could lead to premature aging and exhaustion of the immune system later in life. Too much of a good thing sometimes is bad… this is an example of that.
JAK inhibitors could attenuate the ill effects of interferon receptor overdose. JAK inhibitors are small molecules designed to inhibit the JAK enzymes acting “downstream” of the interferon receptors. They are pills that can be taken daily and are fully reversible because they rapidly clear the body. In the study, 10 participants saw benefits with zero adverse events. 6/6 participants with alopecia aerata experienced hair growth. 2/2 participants with atopic dermatitis saw complete remission. 1/1 participant with psoriasis saw complete remission. 2/5 participants showed improvements in hidradenitis suppurativa. ALL participants showed normalized immune markers. 7/7 participants with clinically significant anti-thyroid autoimmunity displayed decreased levels of autonantibodies. Lastly, significant improvements in one measure of visuomotor function, and anxiety/depression scores. Participants were asked to “track” a path with a pencil. It was shown that the JAK inhibitors taken created less errors in this testing, too.
This trial was a success and it has been deemed safe. Skin pathology is clearly improved with alopecia, psoriasis, and atopic dermatitis showing the best responses. Other autoimmune conditions, such as thyroid disease, may also benefit from this intervention. Tantalizing preliminary results justify the investigation of potential improvements in neurological function. 7/12 participants are now taking this medication with a prescription.
The value and integrity question was raised on the neurological improvement. I believe that anything you can do to provide a better quality of life is good. I value a person because we all play a part in this world. Improving anyones life is good, hence the word improve. If it doesn’t help an individual, this wouldn’t create us to then devalue them. All studies meet an ethics board and they do not take lightly the reasons for the studies and always put the person with great intentions as the top priority.
As you can see in this one study alone, it matters. Improving quality of life is the mission and these results did just that. This provides hope for families. Answers are everything on this journey. My job as Hudson mom and advocate is to provide him his best life and the tools to achieve this.
Here is an example of a study with new technology:
Alzheimers is a very real threat to our community. They have linked Obstructive Sleep Apnea (OSA) to early onset Alzheimers. Side note: Children with Down syndrome really should have a sleep study conducted by age 4. Larger tongues and smaller airways can occlude needed oxygen, especially during sleep. And now, with this knowledge of overlap with Alzheimers it's more important than ever. Once diagnosed, many doctors will want to intervene with CPAP machines, teach sleep positions, use oral devices to place tongue in a better position and so forth. This new technology/treatment is called Inspire Upper Airways Stimulation (UAS) therapy. It’s basically a pacemaker for the lungs and tongue. This is the first implantable device for treating OSA. Inspire USA works from inside the body and with the patient’s natural breathing process. A deep breath will send a sensor attached to the tongue to move the tongue to allow the airway to open. I am not medical, so please talk to your doctors about all the details. As a mom, this is named so appropriately: Inspire! I am inspired.
Here is an example of new therapy coming:
JASPER (Joint Attention, Symbolic Play, Engagement, and Regulation) is a treatment approach based on a combination of developmental and behavioral principles developed by Dr. Connie Kasari at UCLA. JASPER is a play-based intervention that teaches social communication skills to young children with autism. This therapy made its way in to many of my conversations and classes because of the overlap and direct connection to Down syndrome and autism. Hudson is dual diagnosed and this therapy sounds, well, needed. I am a fun and energetic mom, but getting Hudson to be engaged in play can be difficult and with short spans of attention to a task. It seems this therapy is designed to connect these dots and make playing fun for all.
As you can see, new tools in my moms toolbox for Hudson are exciting, inspiring and encouraging. These are only a few examples of all I learned. I am so encouraged that we are getting more funding that will benefit my son and the life I pray for daily. A world that accepts him, cheers for him, values his life and plays a role in his successes… all while helping give him the quality of life he deserves.
Quality of a persons life is so important and the research being conducted makes this a priority. Research and development should be ongoing, readily available and participation is a must. The more we learn, the more we can provide, ensuring the life of a person with Down syndrome is respected, loved and cared for. The proverbial ball is rolling and new research is coming. Investing either monetarily or by participation is key to keeping this good forward motion rolling as fast as possible.
My Hudson loves life and makes the world better. Going to conventions, connecting with families, seeing a small part of the work that is being done was great for my heart. One of my favorite takeaways was seeing the siblings of a brother or sister with Down syndrome being doctors or therapist on the stage who are developing mind-blowing tools because of the love they have. These siblings have firsthand knowledge of this life I have, they have so much love and respect, they want to make the world better, too.
Moms, dads, siblings, grandparents, aunts, uncles, friends, and medical teams who love people with Down syndrome, together are lagniappe, too. EXTRA love is free!