Stella Update June 2022

As a quick recap to Stella’s voyage so far:

Who is Stella? Stella is a beautiful 2 1/2 year old who is the first daughter of Jessica & Greg; first granddaughter of Joe & Nancy Mandelbaum and Dick & Jane Linderman; and first niece of Sam & Kelsey Mandelbaum and Sara Linderman.

Stella was born a perfectly happy and healthy baby with no pregnancy complications, and for the first 5 months of her life we were the happiest we have ever been as a family. Stella had her first seizure on April 13, 2020 and on April 27th, 2020, we received the forever changing news of her CDKL5 Deficiency Disorder (CDD) diagnosis. CDKL5 is a rare genetic disease that causes both daily seizures as well as severe developmental impairments. There are currently no definitive drugs or treatments available to manage CDKL5 kids’ seizures to give any sort of break. There is such a wide range of development success rates that there is no way of knowing where Stella will land on the spectrum--meaning we don’t know if she will ever walk or talk. We have been working tirelessly to get Stella all of the resources necessary to line her up for future independence and happiness.

For this update, we wanted to concentrate on how hard Stella has been working the past year. Her hard work was actually showcased by one of the world’s leading rare disease advocacy organizations, AllStripes, on their social media accounts which you can watch by clicking the button below.

Click here to watch AllStripes Video

Stella is still the hardest working little girl we know with the most jammed packed therapy schedule we can create at the time. Believe it or not, if her therapists had time for more sessions, we would try and fit more in for her! Here is a little taste of what her weekly schedule looks like when it is not interrupted by doctor’s appointments:

Each therapy is scheduled for 45 to 60 minutes, however, Stella averages a good 30 minutes of hard work each session with lots of cuddles in between. She works so so hard and we walk away from each session more proud of her than before!

50% of her therapies are at home and 50% of her therapies are in clinic. We would like to take this opportunity to thank ALL of her therapists and teachers for believing in our Stella and continuing to work with her even when she acts like the 2-year-old she is!

Stella has been keeping to this schedule more-or-less for the past year and a half. Here are some progress updates:

1) Physical Therapy – Reminder, some kids with CDKL5 learn to walk where many don’t…

Although Stella still prefers to lie on her back most of the day, she can now easily roll to her tummy and get up on her knees to sit for periods of times!
When placed in a standing position, Stella can now confidently stand on her own for a couple of minutes and has even progressed to take 1 or 2 independent steps!
When placed in standing position by a couch or table, Stella can cruise from one side to another—slowly, but on her own without assistance!
Stella needs minimal hand holding assistance to walk across the room! But still needs that helping hand for confidence 😊

2) Occupational Therapy – Reminder, Occupational Therapy focuses on fine motor skills, such as grasping, which is very limited in most CDKL5 kids…

Stella is finally reaching for things that interest her, even though finding those “things that interest her” are still hit or miss!
She is starting to grasp items given to her in her hands more and learning to ungrasp and drop items in buckets!

3) Feeding Therapy – Reminder, some kids with CDKL5 ultimately require a G-Tube for nutrition…

Stella is still our little foody and Grandpa Joe and Grandma Nancy are still spending hours to cook, measure and provide her meals weekly to her!
Stella is still on a very strict ketogenic diet where we have to measure everything she eats or drinks to the 10th of a gram! This diet creates a lot of limitations of the feeding skills we can practice…
Stella can now feed herself a pre-loaded spoon!
We are working on chewing solids more, and Stella LOVES chewing on a nice piece of steak! (Ribeye steak is her favorite!)
She is getting so much better at drinking from a straw with assistance in holding the cup for her!

4) Speech Therapy – Reminder, communication seems to be the hardest skill to acquire for kids with CDKL5…

Stella is still playing with sounds although the “m” sound is her preference. She has said “more” once and recently we heard her approximate “I love you” which brought more joy to our world than we can describe!
Stella has limited-to-no expressive language—meaning she has no consistent words, does not point to things she wants, and so far, no sign language. We are working hard to try and teach her how to use switch buttons to communicate and also the iPad for communication!
Stella’s receptive language is improving every day, and although her processing time is long, Stella understands a lot!

5) Hippotherapy – Reminder, this is physical therapy performed on horses! We know this is a unique kind of therapy, so you can learn more by clicking here

Part of this therapy is to ride the horse in different directions in order to strengthen different areas of Stella’s core. Stella rides the horse forward, backward, side saddle, and even while she is on her hands-and-knees!
Stella has gained enough core stability and strength over the past year to sit herself up on the horse on her own where the therapist is now really just spotting her to make sure she doesn’t fall!
Stella has even gained enough strength to “trot” with the horse at a faster pace—which she LOVES!

6) Vision Therapy – Reminder, many kids with CDKL5 have Cortical Vision Impairment (CVI) where the eye structure is normal, but the brain cannot process what the eye sees…

We are having a difficult time finding a vision therapist who has vast experience with kids with CVI. If you know of anyone, please send them our way!

7) Music Therapy – Reminder, this is a form of speech therapy for Stella…

STELLA LOVES MUSIC!
She is starting to make noises during songs at appropriate times and loves hitting the tambourine! If you don’t know the song “Matilda the Gorilla” make sure you Google it because it’s one of her favorites during music therapy!

As you can see, our little girl continues to stay busy as ever, and we are just trying to get her the best of the best resources available to give her the best chances for future independence! She continues to show us what the baby steps of progress really look like and there is not a person in our family that takes anything for granted. We are so proud of her for literally every step she takes, every look she gives, and every sound she makes.

Some of Stella’s therapies, equipment, and medicine are covered by insurance but there is quite a bit that is not. We are forever grateful for the public and private social services who help make up some of the difference and help with some of the out-of-pocket necessities such as the Westside Regional Center, California’s In-Home Supportive Services, Partners in Care Foundation, and Chai Lifeline. There are not enough thank you’s in the world for the amount of resources and time Stella’s grandparents have also put towards her care to make up for even more expenses and time requirements not covered. We don’t know where we would be without her Uncle Sam and Aunts Sara & Kelsey who keep pushing her to do her best and for finding resources to advance our cause. Finally, Jess and Greg would not be able to function or work to proved for the rest if it were not for her daytime nurses/nanny’s Maria & Alexa, or her nighttime nurses Johanna, Crystal, or Susan. Team Stella Strong continues to grow larger and stronger by the day and together make her continued growth and development possible! THANK YOU!

Stella is very lucky in that she has so many forever friends already from our friends who had kids around the same time. Although she has not been able to play with them as much as we originally hoped they would due to the pandemic and her being in the high-risk group, when the kids are all together, we see how much fun she will have after COVID becomes less of a threat to her. At the same time, we must admit that it’s tear-jerking sometimes to see how hard she works, yet how delayed she still is. It’s so wonderful seeing all of her friends, some over a year younger than her, naturally growing and developing as they should and hitting all of their milestones, and surpassing all of hers, without a second thought. We wish so much with all of our hearts that life was that easy for her. But we keep our heads up and keep believing that all of the development hurdles she is forced to overcome are truly just delays, and are so thankful for the wonderful examples her forever friends bring to her life. We also hope that Stella’s example helps teach all who she touches to not take anything for granted no matter how big or small of an accomplishment it is.

When the pandemic hit, we, like a lot of people in the world, jumped on the Peloton bandwagon. For any of you who have also taken classes, you know that the instructors are known for hitting you with some pretty inspirational lines right when they know you probably have reached a point in the workout where you want to quit. Lines like “Never easy, Always Worth It…”; “How you do anything is how you do everything…”; “Tough times don’t last. Tough people do…” But the line that ALWAYS gets us the most is: “You don’t have to. You get to.” Think about that line again—You don’t have to. You get to.

The reality is, that no matter how hard Stella works, Stella may never get to do a lot of things. She may never get to do a hard workout that she wants to quit in the middle of like a Peloton class. She may never get to read a book on her own like the books we dreaded reading in school. She may never get to deal with a deadline that forces her to work overtime on the weekend.

Imagine what life can be like if you take Stella’s example and start looking at day-to-day life with the attitude of “You don’t have to. You get to.”; it makes you appreciate all of the little things that much more, right?

Well, as Ralph Waldo Emerson said: To know even one life has breathed easier because you have lived. This is to have succeeded.

Let’s make Stella the most successful person this world has ever seen, and let’s all breathe easier for her.

Fundraising Update

Thank you all again for all of your time and generosity during the 2021 fundraising season. Because of your efforts and donations, for our first year of fundraising we were able to raise over $123,000 in 2021 for CDKL5 research and support, and we raised awareness of what CDKL5 is to over 2,000,000 social media users!

The Mandelbaum and Linderman families are also very excited to announce that we have decided to move forward with starting our own nonprofit organizations to help fundraise for research and science that focuses on working towards finding a cure for CDKL5 and similar rare genetic disorders. We are convinced that the cure for Stella revolves around advancing genetic therapies that will help many genetic disorders—CDKL5 being one of them. We want to ensure that the dollars we raise in the future go towards those efforts. The names of the organizations are:

Cure Rare Foundation
Cure CDKL5 Foundation

We are still in the process of acquiring 501(c)3 status which is why we paused aggressive fundraising efforts, and instead are putting our efforts towards getting organized and building our network so that we can hit the ground running once 501(c)3 status is approved. In the meantime, we have moved forward with hiring a Director of Fundraising & Events to ensure that we are ready to go when appropriate, and although we have found a brilliant mind to help us with marketing on a part-time basis, we are still on the hunt for a full-time in-house Marketing lead. If you would like to get involved or volunteer in our efforts, please email us at team@stellastrong.com

CDKL5 Research & Studies

Team Stella Strong is a fierce believer of research and science and wants to help in any way we can to make sure that no other family has to endure what our family has been forced to survive. Here are some study highlights that we are either a part of or hope to be a part of that we wanted to make you all aware of:

Cortical Vision Impairment (CVI) Therapy Study at Children’s Hospital Los Angeles – a study geared towards developing standards of care for therapy services for those suffering from CVI
Cortical Vision Impairment (CVI) Range Study at Children’s Hospital Los Angeles - a study geared towards developing a way of measuring the degree of CVI a person suffers from
Fintepla Study at Children’s Hospital Los Angeles and/or UCLA – a study using a very promising new antiseizure medication for children with CDKL5
Baby Brain Imaging and Behavior Study at UCLA – a study examining brain function and behavior in early infancy in order to identify the earliest predictors of autism spectrum disorder (ASD) or developmental delay.
CDKL5 Outcome Measure Study at Telethon Kids Institute, Australia – a study aiding the development of standards of care for kids living with CDKL5
CDKL5 Clinical Outcome Measure Study for CDKL5 Centers of Excellence – a study to develop validated and standardized clinical outcome measures to accurately a reproductively track meaningful changes in clinical trials for optimal testing of new therapies.

Conclusion

As you can imagine there are many other details that we can update you with, but this would be a novel of an update if we did! Now that we are hiring more staff to further our efforts, we hope to send more regular updates to fill you in on Stella’s world that will be shorter in length as well.

In the meantime, make sure to follow us on Instagram, Facebook, and to check our website for updates.

Thank you all for your never-ending love, support, and generosity. Thank you for being the Team Stella Strong that will help us put all the energy possible to get us the win of finding a cure in time for Stella to realize it! We really don’t know what we would do without you.

We hope that all of the dads, grandpas, and father figures out there had a wonderful Father’s Day!

Remember, you don’t have to have a good day today. You get to!

Staying “Stella Strong”,

Jessica, Greg, and Stella

Stella Update December 2023

June 2021 Updates