Riley’s Fight with CLN3 Batten Disease

13/06/2024

We know there are a lot of people that follow Riley’s story and wanted to give a little update. Since she has been on the medication Miglustat, for a little over a year now, we have been waiting to see how her doctors appointments went, specifically her eye appointment before updating anyone.

We flew to Texas at the end of March to see her neurologist, Dr. Clark, at the Texas Children’s Hospital for Riley’s routine 6 month check up. He was pleased with how she was doing, and didn’t see any noticeable progression. We saw her local neurologist in April for a follow up, and again she did not see any noticeable progression and is pleased with where Riley is at. We have been doing Optical Coherence Tomography (OCT) tests regularly before she started the miglustat. The OCT looks at the back of the eye and allows the doctors to measure the thinning of her retina and optic nerve. This was what they were using to measure the efficacy of Miglustat. The last test we did was in February of 2023 and she started the miglastat at the end of May 2023. This past Saturday, she had her latest OCT, her recent results showed she had a slight change in her left eye but had basically no change in her right and her vision is considered stable at this point!

We had no idea how we were going to get the medication with the astronomical price, but the fundraising started and money started to come in. We still had no idea how we would do it but we knew we had to make the decision to start the meds, as time is not on our side with this disease and it just all somehow worked out! We were able to continue to purchase the meds, and we can’t thank everyone enough for the support, there is no way we could have done any of this without all of your support, and it shows it was the right decision!

This is uncharted territory and we have no idea what the future will look like but we are hopeful with what we are seeing and we are just anxious to continue to do what we can to help make this medication available to all CLN3 Batten Disease children.🩵🩵

10/06/2024

Today is International Batten Disease Awareness Day! A day for all of our Batten families to tell their stories and come together to raise awareness. We are grateful for the amazing community filled with such fierce advocates that support each other. Riley will be 9 in August, and everyday is a blessing. Today we advocate for Riley, and all batten kids who deserve a cure and hope for the future.

Here is the link where you can help, you can donate to raise funds or email a pre-written letter to leaders and decision makers.

https://ow.ly/KMj950S1e0F

08/06/2024

Two years ago today Riley was diagnosed with Batten Disease CLN3. Two years in and this day looks totally different than what we had expected it to look like and what we were told it would look like. Diagnosis day devastated our family and has changed our lives forever but it has taught us how to live in the moment and enjoy every second we have together. This year has taught us lots of patience and to find the positive in the little things.

05/06/2024

Today’s Batten fact looks at some of the symptoms Batten children and adults may experience. Raise awareness by sharing our Batten facts before International Batten Disease Awareness Day and the BDSRA Virtual 5K on Sunday!

Help us reach our $75,000 fundraising goal: https://ow.ly/xvjJ50S18Qi

02/06/2024

It’s time for daily Batten facts! We’ll share a daily fact through International Batten Disease Awareness Day on June 9. Our first Batten fact summarizes what Batten disease is. Raise awareness by sharing our Batten facts before International Batten Disease Awareness Day and the BDSRA Virtual 5K on June 9!

Help us reach our $75,000 fundraising goal: https://ow.ly/M96R50S17Pw

01/06/2024

🚨Opportunity to advocate!🚨
Please consider taking a second to follow the link to reach out to your representatives with a pre written e-mail to raise awareness for Batten Disease, and encourage our representatives to petition the FDA to adopt a better approval process for rare and ultra-rare disease treatments!

BDSRA Foundation | Powered by CharityEngine

22/05/2024

Today was Riley’s last day of second grade! We are so proud of her accomplishments this year. It has been a difficult adjustment at times. She has changed to a bigger school with a different layout, new teachers, and classmates but we are so grateful for her teachers and their support this year.

Riley has been working with a Blind/Low Vision Teacher, and they have been working on learning Braille. She has been doing so well with the alphabet. I decided to test her and she did great! (Sorry the video is a little long)

30/04/2024

Pediatric rare disease drug development relies on the commitment, motivation, and tenacity of the parents. BBDF is grateful for our partnership with rare disease families who are advocating for treatments for Batten disease. Congratulations to Batten mom, Judy Stecker, co-founder of Wheeler’s Warr...

24/04/2024

We’ve got the 18-month results of the Batten-1 trial using the miglustat medication that Riley has been on for the past 11 months (off label). The results are yet again promising, while we don’t know the future of this uncharted territory this brings hope where there wasn’t any before.

This is the trial as I’ve mentioned previously, that we had hoped to have Riley in, but it is currently on an indefinite hold for phase 3, due to some unexpected funding issues. The national batten organizations and families are currently working to find a way to make this trial happen because as soon as we clear the phase 3 trial, we can get FDA approval for this medicine to make it available to all the batten families through insurance.

Every CLN3 Batten child deserves this medication and every day with this horrible progressive disease that they don’t have it is devastating. I know everyone behind the scenes are working hard to figure something out but it’s hard not to be angry where the situation is at and where the FDA can do something and still hasn’t.

There are so many issues that need worked on but I am so grateful for everyone in the Batten world that has gotten us to this point. From the families, doctors, and scientists that have found a possible treatment for CLN3 to help slow this disease, to our amazing community that has supported us and help us to provide this medication for Riley. Thank you all. I hopeful this medication will be approved soon and all our batten kiddos have access to this medicine.

28/03/2024

Here we go…headed to Texas for a checkup with her neurologist in Houston.
We had expected this trip to look a little different. We were hoping we would be heading down for the start of the trial, but unfortunately that plan has changed due to the trial being put on hold because of funding. This is devastating for the Batten community as this means with no trial there is no FDA approval for the Miglastat that we have been fortunate enough to have Riley on for the past 10 months.

We are hopeful this won’t be forever and the trial continues at some point, and that all our CLN3 kiddos have access to this medication that will hopefully slow this horrible disease. Until then, we’ll keep advocating for these kids and pushing for easier access to lifesaving medicine!🩵

27/03/2024

Hey everyone! Make sure to get your registrations in for Jailbreak 2024 by Friday! There are still plenty of spots available so don't feel like you're stopping anyone else from participating. This also may be the last year that the Jailbreak event is able to take place for a couple years so lets make this one the best one ever!

If you want to participate, in any way, contact Lee Mitchell at [email protected].

UPDATE

The last day we will be accepting registrations for this years Jailbreak event will be Friday, March 29th. In order to register, you will need to send Officer Mitchell an email with your name, nickname and preferred crime so he can generate a WANTED poster for you. This will be the last date he will be available to accept the registration and create the posters.

Please email Officer Mitchell at [email protected] to register before it’s too late!

19/03/2024

Make sure to get signed up for this event, it is a fun time and it would be great if we do even better than last year with participation. It’s a fundraiser to help our local law enforcement with programs for the community throughout the year and a portion of the funds will go to Riley’s medical fund. Once again we are grateful for the support!

We are still accepting registrations for this years Jailbreak fundraiser. Proceeds will once again benefit the Riley Pitner fund. For those that are not familiar, Peru Police Department Captain Colten Pitner’s daughter, Riley, was diagnosed last year with CLN3 Batten Disease. This is ultimately a terminal disease and medications to assist in slowing the progression for children are astronomically expensive. The family relies on fundraising efforts to help Riley get the medications she needs while they continue to attempt to get into the trial.

If you or someone you know would like to participate in or simply donate towards this years event, please contact Officer Mitchell at [email protected] ASAP. Thank you.

07/03/2024

During this years jailbreak fundraiser, a portion of the money raised will go to help with medical/medication costs for Riley. We are so grateful for our community and for everyone that participated last year, and we hope we can get another great year to help benefit our police department and Riley.

We have been able to provide Riley 9 months so far with the medication that is expected to help slow the disease progression and with insurance not paying there is no way we would have been able to do that without the people and businesses around us that are participating in these types of events.
Thank you all for sharing and participating in this fun event!

Please reach out to Lee Mitchell or the Peru Police department from this link as soon as possible so we can get you signed up!

JAILBREAK 7 ANNOUNCEMENT

This year, members of the Peru Police Department and the Miami County FOP Lodge #72 will conduct the 7th annual Jailbreak fundraiser. This year’s event will take place on Friday, April 12th, 2024.

For the second straight year, proceeds will help Peru Police Department Lieutenant Colten Pitner’s daughter, Riley, in her continuing battle against CLN3 Batten Disease.

The most current update from the Pitner family is the following:

We've had several people reach out recently to ask how Riley is doing and what they can do to help. First, we wanted to express our overwhelming gratitude to everyone that has kept us in their thoughts or helped in any way. Through the amazing efforts of this community, we've been able to provide the medication that the doctors say will slow progression of the disease, get her to see therapists and specialists, and purchase therapeutic equipment to help slow mobility loss. Her doctors are continually impressed with her condition, and we absolutely could not have managed this without all of you. Although we've managed to find a pharmacy that can offer us the medication at a lower price, that is still our biggest expense. We continue to fight with insurance to get them to pay, but for now, we're relying on fundraising for this medication.
As for Riley herself, she is doing well and continues to fight the progression of the disease. Her eyesight seems to be holding steady, the seizures are controlled by medication, and she continues to excel in physical therapy to keep her mobility steady. She is happy and loves playing with her friends at school, and her little brother at home. We just want to thank everyone that has contributed to help us provide the best level of care for her so she can continue to be her happy self.

For anyone that would like to participate in the Jailbreak fundraiser, please contact Officer Mitchell at [email protected] as soon as possible.

More information will be released in the following days and weeks leading up to the event. Thank you.

01/03/2024

Rare disease day 2024 is coming to a close!🦓
This isn’t a day I particularly enjoy being apart of as it’s a reality I don’t like to confront on most days, but it’s a day for awareness and speaking out about the issues and trying to get change.
Our community deserves treatment, fair access to life saving medication, affordable medical equipment and easier access to adapted support.

One thing I am grateful for in the
rare disease community is the amazing individuals that are coming together to fight and to raise awareness for all of us. I’m grateful for the people we have met in the Batten community that are kind, accepting, and fierce advocates, that are all willing to help in whatever way they can.

Our voices deserve to be heard and our stories need to been seen. This is a hard life but we won’t ever stop fighting or advocating for our beautiful girl. 🩵

29/02/2024

If you haven’t yet, please click the link. It just takes a second to send a pre-written email to our state representatives and it does all the work for you. The more people they hear from, the more likely they are to take action!

WOW! 📣💜 Since the launch of our advocacy module for Rare Disease Week just two days ago, over 250 Batten advocates have participated and over actions 340 have been taken. From the bottom of our hearts, THANK YOU for advocating for the Batten disease and rare disease communities. Let’s keep it going! Please share the link below and encourage others to send letters to their congressional representatives before midnight EST on Thursday.

Click this link to get started and watch the tutorial on this page for full instructions: https://ow.ly/CGIA50QIKeY

27/02/2024

Hey everybody! This week is Rare Disease Awareness Week and we have something super simple you can do to help us try to help Riley and other kids with Batten Disease. Below is a quick video, just over a minute long, and a link to take you to the BDSRA website. From there you can send an email to your senator and representatives. The email is already written out so you don’t even have to think about what to say. Please reach out to your congressman and senators and help us urge them to support initiatives that facilitate research and easier access to potential life-saving medication. Together, let’s raise awareness and make a difference for all the families affected by this devastating disease! Please share this post so we can reach as many people as possible.

23/02/2024

We recently took a bucket list trip for Riley to New York. With the uncertainty of everything going on, we wanted to make sure she got to go while her vision is still relatively good.

She has been planning this trip for probably over a year and was so excited to actually get to go and complete her bucket list items. I don’t have my phone much so unfortunately I didn’t take as many photos as I should have but we checked off just about everything on her list and then some. It was an amazing trip with lots of great memories.

We got to see Aladdin on Broadway✔️
Walked through Central Park✔️ (she loves Home Alone and wanted to see where Kevin ran in the park to meet the bird lady)
We saw the Brooklyn Bridge✔️ ( it apparently wasn’t as exciting as her Barbie dream house cartoon made it seem)
See the Statue of Liberty✔️
We went to the Harry Potter store and tried some butter beer ice cream✔️
Walked around Time Square✔️
Went to the American Museum of Natural History✔️
Met up with the NYPD and received lots of badges, coins, and stuffed animals✔️

04/01/2024

♥️We are so grateful for this!♥️

This is great opportunity to get some wonderful pictures taken and help support Riley at the same time.

Please share and spread the word

03/01/2024

**2023 year in review**
This past year was very challenging mentally, physically, and emotionally for our family, and finding out the trial has been pushed out until possibly the end of March was another hit of disappointment.
We have made some wonderful memories and new friends. The laughter and love makes the days not feel so dark, and most of all, we couldn’t have made it through the year without the support from our family, friends, and community. Your continued contributions and support have brought us so much joy and encouragement through this year, given us so many wonderful memories, and allowed us the opportunity to provide the medication needed for Riley to hopefully slow this disease.

We are looking forward to 2024 trying to stay positive and live in the moment. Thank you all for your support and encouragement, we are so grateful for everyone who is following us in this journey and hopefully you don’t mind the photo dump!

Wishing everyone a happy 2024 and good things to come!🎉

08/12/2023

It’s a little late because we didn’t see this when it was first posted, but we are so grateful for Southeastern Guide dogs and Banks, he is the best!

Sweet, 7-year-old Riley is legally blind, but her vision loss is only one symptom of the nightmare diagnosis of Batten disease. This rare, inherited brain and nervous system disorder progresses rapidly and has no cure.

Help comes in the shape of Banks, a skilled companion dog with a slow, calm, and soothing demeanor. Banks provides unconditional love and emotional support, quelling Riley’s sleep disturbances, anxiety, and fears. “He just makes me feel brave,” says the bravest of little souls.

Give the magic of friendship and help more kids like Riley.

This week, help us reach our $10,000 Facebook donation goal to support our programs for children and teens. Each generous contribution you make will be matched dollar-for-dollar, instantly doubling its impact, up to a total of $250,000, thanks to our Best Friends Buddies.

28/11/2023

Please consider supporting a small business and a fellow Batten mom.

Check out her shop where she makes these awesome ornaments with tactile braille for the visually impaired or blind.

We have recently introduced braille in her school setting and are so excited to get these to hang on our tree to continue to familiarize her with it!

My new favorite: this brailled family name request. 🎄🩵

25/10/2023

We recently took the kids to the zoo (thanks for the tickets that were donated for Riley) it was a perfect day and there was hardly anyone there, the animals were active, and we didn’t have any lines.

These are the best times and the memories that are created are so important. We are grateful for the continued support.

20/10/2023

October is Blindness Awareness Month.

Having genetic vision issues in my family, blindness is nothing new to me. It has always been a fear and a possibility when having children. It has made me appreciate my vision and senses so much, and has become a goal to instill that appreciation in our children. One of my favorite things to do with Riley as she was growing up would be laying on the ground staring at the clouds in awe of the colors of the sky, or the twinkle of the stars, and closing our eyes to smell and hear everything around us.

Riley is legally blind at this point. She is doing well and managing, in fact if you saw her, you probably wouldn’t even know she was blind but it is there. She doesn’t use a cane yet, or have anything obvious saying she is blind, but it’s the little things or the uncertainty she has when in situations that she may have a harder time wanting to participate.

Discovering this world of disability and advocacy has been challenging and has made me realize how much change is needed.

Blindness is a spectrum and no blindness is the same. This doesn’t define who she is, it is just an obstacle in her path. I don’t know why I’ve been chosen to be her mom, as I certainly don’t feel I am adequate or strong enough to be given such a big task, but she gives me strength and reminds me everyday why we do what we do, and makes me grateful that we have such an amazing kid.

Not all disabilities are visible or the same, so just always be kind and patient with people; we never know what battles they may be fighting.🩷💜

14/10/2023

We had such a great time at the dodgeball tournament today! Thank you to everyone that showed up, participated, and supported us we are so grateful!🩵🩷

13/10/2023

Just a heads up for anyone planning on coming out, there’s been some last minute changes due to weather. We are still looking forward to a great event and can’t wait to see everyone there!

We would like to thank ALL of our generous sponsors for helping make the next Riley Pitner fundraiser possible! With that being said, we have had to make some last minute changes…

Due to the prospect of a rainy and chilly day, we have opted to move the event to Maconaquah High School and the event will now be a DODGEBALL tournament instead of a kickball tournament. Rules are posted in the comments below.

Registration still begins at 8am and consessions, raffles and 50/50 drawings will still be available. All teams that have pre-registered have already been notified of the change. Please make sure you arrive early so you can get registered and we can get the brackets finalized before 9am.

Please plan on joining us tomorrow for a great day of fun. LET’S DODGE IT FOR RILEY!!!

29/09/2023

This! This is Riley’s neurologist Dr. Clark we travel to see in Texas, giving the one year results we have been waiting, hoping, and praying for!

These are early results showing the medicine is doing what it was expected to do. It is slowing progress in this disease and giving us hope where there wasn’t any before.

Everyone who has supported us or who has donated to us and helped us provide this medicine for Riley, you are making a difference! We aren’t out of the woods with the FDA, and having this be approved so insurance will cover it, but this shows we made the right decision to try and get this medication through fundraising for her and we are so grateful for everyone’s continued support!

Dr. Gary Clark, Chief of Neurology at Texas Children’s Hospital and Lead Investigator of BBDF’s Batten-1 Phase I/II trial presents encouraging preliminary results to the scientific community at the International NCL Congress in Hamburg, Germany today. See press release: https://beyondbatten.org/press/highly-promising-12-month-results-in-the-phase-i-ii-trial-of-batten-1/

20/09/2023

More than 70 genetic disorders are known to cause childhood dementia for more than 700,000 children worldwide. Most of these disorders are neurological, like Batten disease. Today, we raise awareness for Childhood Dementia Day to remind government decision-makers, researchers, and healthcare professionals about childhood dementia and the urgent need for action to solve it.