Noah's Mohr-Tranebjaerg syndrome journey

Heard from the CEO at Rinri today they are the London based company working on stem cell for Auditory Neuropathy. He wanted to let me know they’ve made incredible advances this year 🤞 We are still a LONG ways from pediatric trials but I love that the CEO keeps in touch with me and gives me updates. He said kids like Noah is the EXACT reason they are doing the work to bring this treatment to reality! I would literally sell my soul to fix this disease for my dude!

I am so excited to announce that Noah has been selected to be the Sherwood Middle Schools Sparrow. ❤️ This is an incredible opportunity for kids/teachers/our community to learn about the SILENT world Noah lives in and about his extremely rare disease Mohr Tranejbaerg syndrome. It’s impossible to truly grasp hearing loss until you actually live with it! I am so proud of my boy-two years ago we couldn’t even take his photo! Look at him now.

Portland Sparrow Clubs
ADB Photographix (Jamie Wirth)

https://investors.frequencytx.com/news-releases/news-release-details/frequency-therapeutics-presents-results-demonstrating-sustained

Frequency Therapeutics Presents Results Demonstrating Sustained Improvement in Hearing Loss Patients Treated with FX-322 | Frequency Therapeutics Evidence of Durable Hearing Improvements in Follow-Up with Patients from Phase 1/2 Study; Speech Intelligibility and Audibility Sustained for Up to 21 Months After Initial Dosing Data Highlighted at the 2020 American Academy of Otolaryngology – Head and Neck Surgery (AAO-HNS) Annual Meeting WOBURN...

Some hearing research updates

https://www.hearinglosstreatmentreport.com/

Hearing Loss Treatment Report www.HearingLossTreatmentReport.com

If they can do this I have to get them to fix Noah’s gene it’s one letter and the first letter in a super small gene! Noah just needs his first letter cut off and replaced with an A!!! How hard can that be 🤷‍♀️

This hospital is in OREGON where we live!!

https://www.oregonlive.com/health/2020/03/ohsu-doctors-edit-a-persons-genes-inside-the-eye-to-try-to-reverse-blindness.html

OHSU doctors edit a person’s genes inside the eye to try to reverse blindness A patient recently had it done at OHSU’s Casey Eye Institute in Portland for an inherited form of blindness, the companies that make the treatment announced Wednesday.

My deaf son is meeting his IEP goals. 🤟. We had to set new ones harder goals. Noah is determined- Noah is driven- Noah works hard every single day to live in a world we take for granted. Trying to hear is HARD so much harder than we can even imagine! Noah should be an inspiration to us all 💙

Noah is published in the medical journals. This is what we need for future research- answers- treatments and maybe even a cure 🙏
(It’s a very scientific read)

https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1121?af=R

Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome We report a novel TIMM8A variant in a patient with DDON syndrome that alters the initiation codon, resulting in no detectable protein and a reduction in TIMM8A transcript abundance. Decreased steady‐...

https://www.medicalnewstoday.com/articles/275923.php #1

I feel like Noah's condition is like a marathon a race between progression and science. I sure hope that science wins!

Breakthrough: scientists use ear implants to regrow auditory nerves Researchers from the University of New South Wales in Australia have used cochlear implants to deliver gene therapy, allowing regeneration of auditory nerves.

Last week an event happened in our town that I can totally relate to. Yes I am saying it out loud!!! Over the past two years I’ve texted those closest to me the words “I hate my life” “I can’t do this anymore”. Nobody truly knows what someone is going through. You might think you do because you follow them on social media but really you don’t. I am lucky that my brain has the chemical ability to pull myself out not everyones does. It’s impossible for me to describe what it’s like to be told YOU are the reason your son has a disease that will impact every aspect of his entire life. Will he blame me someday-will he hate me!!! So until you hear those words don’t judge if you don’t like what I share about the life we are living unfollow me because I post because it HELPS ME!!! I didn’t- he didn’t- we didn’t ask for this it’s NOT what I thought life would be like. 💗

No major Noah news. Yesterday was the first day he provided feedback at implant/mapping apt which was huge! He's LOVING ASL and signs the letters as he's learning sight words and books. We increased his Vitamin E dosage and I continue to be in touch with Dr's/Scientists on any updates with clinical trials, stem cell trials, etc. His most recent bloodwork was great and continues to appear that his mitochondria is not in oxidiative stress. I am hoping to continue to connect with more families with MTS/Mohr Tranebjaerg syndrome so we can learn from each other.

2020

The year of HOPE!

Hoping for continued research
Hoping for possible treatment options
Hoping for advancements in gene therapy, stem cell, and fda approvals.

https://www.sciencedirect.com/science/article/pii/S1471491419302382

https://www.google.com/amp/s/www.labiotech.eu/biotech-of-the-week/rinri-therapeutics-stem-cell-therapy/amp/

This Biotech Is Developing a Stem Cell Therapy for Deafness Sheffield is one of the UK’s historic industrial bases. It also hosts the biotech Rinri Therapeutics, which is developing a stem cell therapy to treat deaf patients who are not eligible for cochlear implants. Mission: To develop a stem cell therapy for a rare form of deafness where the neuronal wi...

I only had to email the researchers a FEW times that did the study on Vitamin E in Australia but I got a response. I will never give up trying to help Noah! 💙💙💙

The Dr they mention is Noah’s Dr it’s is reassuring that we are taking him to the best center in the US!

Email:
I know Russ Saneto well and have visited Seattle Children’s a couple of times in the last 6 years or so. I think it is clearly one of the best centers in all of the USA for research and care of patients with mito disease, so your family is in very good hands.

In most mito disorders, including Mohr-Tranebjaerg Syndrome, we really still don’t understand why mutations in one gene often cause a fairly specific set of symptoms like deafness or dystonia, while mutations in another gene cause quite a different set of symptoms. This research was trying to understand some of the mechanisms that might underlie that, hoping to prompt insights into more specific treatments for the different types of mito disease. I think the overall insight was that the TIMM8A protein plays a somewhat unexpected role in the brain, with a specific link to assembly of one of the 5 complexes of the oxidative phosphorylation system, namely complex IV, also known as cytochrome c oxidase. This was shown by studying SH-SY5Y cells, which resemble neurons found in the brain, compared to a regular lab cell line. At least one consequence of this is to affect the resilience of SH-SY5Y cells in terms of their survival, and Di’s group found this interesting effect of vitamin E being protective against this process, at least in cell culture.

I hope I can offer you some comfort by saying that we will continue our research in this area and are moving our analysis into animal models in the near future. This will provide us with an opportunity to investigate more closely the effects of Vitamin E and other anti-oxidants.

When Noah was diagnosed my sister said “don’t let Noah’s diagnosis define him” today he scored a basket while playing basketball. He might not have passed the ball and stole from his teammates but a year ago he wouldn’t have even stepped foot on the court. Noah has MTS a disease 70 people have that we had no idea even existed but Noah is still a 6 year old boy living the best life we can give him 💙

Amazing possible MTS breakthrough

Vitamin E

https://www.biorxiv.org/content/10.1101/725655v1.full

Neuronal-specific function of hTim8a in Complex IV assembly provides insight into the molecular mechanism underlying Mohr-Tranebjærg syndrome Human Tim8a is a member of an intermembrane space chaperone network, known as the small TIM family, which transport hydrophobic membrane proteins through this compartment. Mutations in TIMM8A cause a neurodegenerative disease, Mohr-Tranebjærg syndrome (MTS), which is characterised by sensorineural ...

Could this be our future I sure hope so!! Noah’s change is the first letter of the gene in the start codon. I wrote the professor at UC Berkeley yesterday of course I did- and asked. MTS is a small gene and Noah’s change makes it easier to target because they can replace the start codon and the gene should start coding to then produce!!! So all good news the PROBLEM=no current vector to administer the change inside his body. https://www.thecrimson.com/article/2019/10/25/mit-harvard-new-gene-technology/

Harvard, MIT Researchers Develop New Gene Editing Technology | News | The Harvard Crimson A team of researchers from the Broad Institute led by Chemistry and Chemical Biology professor David R. Liu ’94 developed a novel gene-editing technique called “prime editing.”

We need as many parents of Mohr-Tranebjaerg (MTS-DDON) parents to attend this conference. We need this disease in front of the medical community. We are the DRIVERS of science. https://www.umdf.org/symposium/

Symposium Visit the post for more.

Headed to our first Hands and Voices camp this weekend. (A camp for deaf and hard of hearing and their families). We can’t wait to learn and grow as a family. The first symptom of MTS is Auditory Neuropathy (ANSD) a rare hearing disorder that affects the cochlear nerves.

I had a friend post such a raw true emotional post about her grief yesterday and I made me want to share mine on Noah’s page. Looking at these pictures makes me realize how far we’ve come on this journey. The first few days were painful beyond belief. I can’t even describe the dehabilitating sadness. I grieved the loss of someone that was still alive but his entire life was going to be different. Some days are still hard- some days I still cry- some days we are so busy I almost forget- some days I research- but most days I don’t- some days I even sleep now. Most days I just try to love Noah for who he is and focus on each day and not focus on the when will his disease progress. 💙

Thank you to those that follow Noah’s journey but most importantly thank you to my family and close friends that have WALKED the journey beside me.

The first photo was before we got the call the 2nd was the morning after.

I started this page at the request of our Mitochondrial disease DR. to put us in touch with other MTS (Mohr-Tranebjaerg) families throughout the world and other physicians that might be treating them. So far I've connected with two families one in the US and one in Germany. I am hopeful that more families on this journey will find us and we can become MTS warriors together.

I am beyond excited that my boy started Kindergarten this week. He's going to do great things and teach people so much.