Hope with Every Step Maine

09/22/2025

I have to admit, I’m more optimistic today about AI being a good thing overall for the world than I was jutst yesterday. Brad Margus, Founder & Volunteer Board Chair and A-T Dad, is always thinking outside the box and considers absolutely everything and anythig that could potentially advance A-T reaearch for life improving therapies and a cure for ataxia telangiectasia (A-T).
atcp.org

AI leaders often predict that health and medicine will soon advance as rapidly as computing. They point to breakthroughs in text, images, and code, and suggest biology is next, that cures and life-extending therapies are just around the corner. Until recently, I thought that was naïve. I was sure m...

08/08/2025

Brooke received a box of 392 sachets containing granules that are either the drug (N-Acetyl-L-Leucine) or placebo. She started taking the drug on 6/20/2025.
Directions:
Take 2 sachet (2000 mg) by mouth every morning.
1 sachet by mouth in the afternoon
1 sachet by mouth every evening.
Suspend each sachet in 40 mL of water or orange juice or almond milk.
Administer 30 mins before or at least 2 hrs after a meal.

I don't know why but it always seems like I have questions for people that no one else has asked. The directions don't mention that you shouldn't eat or snack for 2 hours before taking the medication. If you don't take it 30 minuets before a meal, you have to wait 2 hours after eating to take the medication, which indicates to me that you need to take it on an empty stomach.
Most people with A-T burn more calories than most people and often need to snack between meals.

I texted Dr. Hoche to clarify this and she reached out to the trial sponsor with my questions.

Dr. Franziska Hoche: The sponsor said to try to keep her stomach empty but they know it is difficult so if snacks can’t be avoided it is fine. They are actively working on the pharmacology of food interactions and think that the dose eventually can be taken independent from food intake. It’s a bit of a gray zone answer but they acknowledge that with AT it’s difficult to truely be npo for two hours after a meal.

It's so nice to be able to text a doctor with questions.

Brooke tried mixing the granules with water and hates the taste of it. She is happy with mixing it into orange juice. I've been measuring her day's OJ out each morning and putting it in small glass covered jars. We just went on vacation out West and didn't want to bring glass jars on our travels. I found these small 5 oz bottles at Dollar Tree to travel with that worked great! Brooke hates that she's drinking out of a baby bottle (with a straw) and wants me to try and take the pictures off. When we were going to be on the road for the day, I packed these bottles of OJ in a small cooler bag and it worked great. TSA has been so miserable for us to deal with over the years that I expected to have trouble flying with these little envelopes in our carryon medical necessity bag but we had no problems at all. I packed what we'd need for the trip, plus some extras, into a resealable plastic bag and stapled the paper label that came with them to the plastic bag and they didn't ask any questions. That was way better than the time we almost missed our plane because Josh's new powdered meds tested positive for explosives and they had to call an confer with Boston Logan Airport. Well, actually Josh's hands supposedly tested positive for explosives this time but he hadn't touched any medication or anything unusual so we still don't know what that was all about!
We have used approximately 192 packets since June 20th (I think we've missed 2 doses).
We have to save all of the empty packets and bring them and the box with the remaining packets back to each monthly appointment. We'll probably find out why we need to bring them back and forth at tomorrow's appointment.

atop.org/donate

08/08/2025

Visit 3 of 6
On June 20, 2025 Brooke had her first official NALL clinical trial appointment. At each monthly visit they will do a blood draw and will monitor Brooke's liver function. After multiple attempts by both the doctor and a phlebotomist, they were unable to get into a vein for the blood draw. This type of thing has happend in the past with Brooke's veins but hasn't happened in years. The doctor called the trial sponsor to let them know they'd been unsuccessful in securing blood samples for Brooke.

During the screening for the trial on June 6, Brooke refused to attempt the 9-hole peg test with her left hand, she was positive she wouldn't be able to do it. On 6/20 (visit #2), knowing she was already in the trial and the results would be tracked but not play a part in her being found eligible for the trail, she agreed to attempt the test with her left hand.
6/20/25 Peg Test results:
Right Hand #1 (meaning first test) = 103.6 seconds
Right Hand #2 (second test) = 93.4 seconds
LEFT HAND #1 = 138.7 seconds
Left Hand #2 = refused
During qualification for the trial, this test needed to be completed within 150 seconds. As sure as she was that she would have failed, based on today's score with her left hand, she would have qualified!

Franziska Hoche, MD, a pediatric cerebellum/ataxia/rare disease scientist, is the study doctor we have been working with. Dr. Hoche is very kind, smart and patient. We had the privilege with working with Dr. Hoche many years ago, before she earned her doctorate. At the time, her team was developing a scale to track and measure peoples' movements who have movement disorders. This scale is important because without it they wouldn't have any way to measure successes and failures of clinical trials like this one. During this appointment, Dr. Hoche shared a few videos from when Brooke (and Josh too) worked with her helping to develop this scale in 2014. What a little sweetie!
We REALLY appreciate the donations that have been made in support of Brooke's participation in this trial. It gives us extra fuel and drive to keep pushing forward and helping with research even though we haven't been able to fit in organized fundraisers.
Team Josh and Brooke are the best and we thank you!
atcp.org/donate

06/20/2025

We’re baaaaack! It’s been too long since we’ve posted much on this Ataxia Telangiectasia fundraising page. We’ve done a thing or two behind the scenes over the last couple of years, including taking part in an Ataxia-Telangiectasia Longitudinal Study and the A-T Biomarker Development Initiative which mainly consisted of blood draws, wearing devices on wrists and ankles that tracked movements and computer testing.
Our latest A-T related news is that Brooke visited the Mass General Research Institute in Charlestown, Massachusetts on June 6 for enrollment screening for Phase III of a clinical trial. To be accepted into the trial “A Pivotal Study of N-Acetyl-L-Leucine on A-T”, patients with a clinical diagnosis of Ataxia Telangiectasia must either perform a 9-hole peg test within 150 seconds or pass an assisted walking test, along with meeting other study criteria.
N-Acetyl-L-Leucine (NALL) is a modified amino-acid ester that came on the market in the 1970s under the name of “tanganil” and was primarily used to treat vertigo (dizziness) and related symptoms like headaches and nausea with very few mild side effects. As far as A-T is concerned, this study will be looking at balance, motor control and quality of life. In other studies, NALL has been shown to save mitochondrial cells, which generate the majority of cellular energy. People with A-T fatigue easily so this would be huge!
About 40 people with A-T will be enrolled in this study, which is a randomized, double-blind, placebo-controlled study.
Great news, our girl made it into the trial!

There are 3 study periods that include:
- a 2 week Baseline Period (which Brooke is now at the end of)
- Period 1 – 12 weeks, first intervention of treatment or placebo
- Period 2 – 12 weeks, second intervention of the opposite of Period 1 (treatment or placebo)
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After the 6 month trial is over, patients may be offered the opportunity to roll over into an Extension Phase where they could still receive the drug until it is approved by the FDA and available on the market.

We are now tucked into our hotel room for the night for trip 2 of 6 to Boston for this trial. In the morning, we will again report to the Mass General Research Institute and will be trained on drug dosing. Besides 4 more trips to Beantown, Brooke will need to mix a neutral tasting powder into her water or juice 3x daily for 6 months.

To recap, Brooke was screened for this trial 2 weeks ago and was accepted. We will have 6, four hour appointments in Boston/Charlestown over the next 6 months for bloodwork and testing. At home, she’ll need to mix powder (Miralax-like) into her drink 3 times/day. Brooke will be given the drug for 12 weeks and will be given placebo for 12 weeks. No one will know if she’s receiving the drug or the placebo during period 1 or period 2, only that whichever she does not get during period 1, she will receive during period 2.

On the drive down, I felt pretty bummed for a minute that Brooke would be getting this drug and Josh wouldn’t, both for 12 weeks during the trial and hopefully after, but that only lasted for a minute. Josh despises simple neurological tests and that alone would have stressed him enough that he decided not to attend the screening. Instead, he’s happily sleeping at Aunt Kim’s, going to the botanical gardens tomorrow with Kim, Randy and cousins (Grammie has the dog). We are so fortunate to have such great support!

We thought it would be fun to share some of Brooke’s experiences throughout this trial with you! Brooke initially didn’t want to share but we talked and she’s now on board, and as always, is accepting donations!

This trial is not sponsored by A-T Children’s Project, it is sponsored by the drug company Intrabio. ATCP has supported this trial administratively on a temporary basis while it gets up and running but they are not funding it. The fact that this A-T specific trail is being funded by a drug company is a really big deal! When Josh and Brooke were first diagnosed in 2009, there were no drug company sponsored trials happening at all.
www.atcp.org/donate

https://clinicaltrials.gov/study/NCT06673056?bblinkid=284745864&bbemailid=58669178&bbejrid=-1074305403

02/28/2025

Happy Rare Disease Day 2025! Check out this inspirational video celebrating A-T Warriors from around the world, you just might see someone you know! ❤️❤️
atcp.org/donate

07/13/2024

This certainly was a magical evening!

04/25/2024

A-T Children's Project Presents A Biopharma Leadership Ball: ILLUMINATION on Saturday, May 11, 2024 at the Museum of Fine Arts, Boston. Join biotech founders, pharma executives and healthcare investors for a magical evening of celebration and hope for families of children with ataxia-telangiectasia (A-T).
More info at atcp.org/ball

04/28/2023

A little facelift for the barn, rebuild 2021

04/27/2023

I had never posted the full 2021 barn Reno, I guess today was the day. 😉😁..

04/27/2023