Susan Matesanz

mom/ child neurologist / neuromuscular / gene therapy 💪🏻🧠@childrensphila. Philadelphia, PA. All opinions are my own.

[Wendy Hasson MD @WendyHassonMD]

Have you ever watched a baby die of pertussis? I have. Several.

This is what it looks like:
A newborn baby can’t stop coughing. They can’t catch their breath and they can’t eat. They get dehydrated and stop peeing. They sometimes have pauses in their breathing. Parents are terrified so they come to the ER.

In the ER, labs show they have a dangerously high white blood cell count. Their blood has become thick from the white blood cells and doesn’t travel through organs like it should. Less oxygen gets delivered to vital organs. They start to seize. Imaging reveals they had a stroke. They can’t pump blood to their lungs and body.

A breathing tube gets placed in their trachea. They get put on a ventilator. A plastic catheter is placed in their veins and arteries to give them medicine and measure blood pressure.

If they are lucky, they can make it to a #PedsICU that provides #ECMO, or full heart lung bypass. They are attached to machines that take over all their body functions.

But it’s too late. Their hands and feet turn black because they can’t perfuse their bodies. Their faces turn grey/green. They won’t stop seizing from the brain injury.

They are attached to too many machines to hold while alive and parents lay their bodies on top of them and cry until they fall asleep then cry again.

There is nothing to do but stop the machines. Antibiotics to treat pertussis were given but were no match for the infections effects on a newborn baby.

Parents finally hold their baby after the machines have turned off and their baby is cold and lifeless.

Is this what you want? This is what RFK Jr will bring to American families.

[Susan Matesanz @suzmatMD]

@WorldMuscleSoc Will hopefully be there next year!

[Susan Matesanz @suzmatMD]

Wish I were in person at #WMS2024 but so thankful @WorldMuscleSoc provides a high quality and affordable virtual option. Grateful to be able to learn without having to travel and leave my young children.

[CHOP Research @CHOP_Research]

Thanks to our @ChildrensPhila Clinical In Vivo Gene Therapy group for sharing their unique expertise w/ scientists & clinicians across specialties at Sept. 20's symposium! The event highlighted evidence-based research + offered best practices for #AAV #GeneTherapy in children.

[Ben Samelson-Jones, MD, PhD @DrSamelsonJones]

Last week to register for our symposium on the clinical practice of #AAV based #genetherapy.

w/ @LindseyAGeorge @DeniseSabatino2 @doshib25 @suzmatMD

[ASGCT @ASGCTherapy]

Register for a Sept. 20 in-person event at @ChildrensPhila, The Safe and Effective Practice of AAV #GeneTherapy!

During this full-day seminar, you'll hear from ASGCT Board Member @LindseyAGeorge, Past President Beverly Davidson, @DeniseSabatino2, + more. https://t.co/Kkt0MR5M4i

[Susan Matesanz @suzmatMD]

Proud to collaborate on this piece led by @oabdulhamid and @pandaneuro. Decision to pursue Elevidys treatment requires individualized detailed counseling and consideration of potential risks / benefits given unknowns. https://t.co/JuPSIyU6Ib

[Susan Matesanz @suzmatMD]

Very exciting news on $srpt #elevidys expansion for the #DMD community. As treating physicians, it’s important we maintain a high safety standard and ensure systems are in place for thorough monitoring and follow up.

[Susan Matesanz @suzmatMD]

@T_C_08 @AANEMorg @PennNeurology Welcome and congrats! I’m peds neuromuscular faculty at CHOP, so will look forward to meeting you.

[Susan Matesanz @suzmatMD]

Super proud to share our collaboration w/the Clinic for Special Children on early dual treatment in SMA. All 2 copy children, despite early tx, developed ultrasound changes. Dual tx was safe, additional data on efficacy needed. https://t.co/2UQ5grs7xe

[Susan Matesanz @suzmatMD]

What a great first day at #ASCGT2024, and had the chance to speak about the implementation of approved #genetherapy. Awesome to share the stage with my #cigt colleague @DrSamelsonJones who spoke about #AAV clinical trials. So proud of what we are building @ChildrensPhila.

[Susan Matesanz @suzmatMD]

Seeing this after a full day of #SMA clinic hurts my heart. My early treated pts are running and jumping. It’s unacceptable to deny tx. #zolgensma works & time is motor neurons. How dare an insurance company deny a lifesaving treatment for these sweet babies. @DGlaucomflecken

[Ben Samelson-Jones, MD, PhD @DrSamelsonJones]

Before #GeneTherapy, SMA was the most common monogenic cause of infant mortality.

#ASGCT @suzmatMD

Insurance Denies Newborn Twins Life-Saving Treatment for Fatal Genetic Disorder: 'Hard to Cope' https://t.co/Dci1D4m0zr via @people

[Susan Matesanz @suzmatMD]

@LakhotiaNeuro Agree 100%! These are lifesaving, amazing drugs but the default can’t be that each new one to market goes higher than the previous one.

[Susan Matesanz @suzmatMD]

3) Thanks @ESilvermanMD for sending me this article!

[Susan Matesanz @suzmatMD]

(1/3) This 1000%. We must develop new systems to evaluate rare disease therapies - patients deserve access. #Elevidys works. Things families of my patients have told me since getting the drug: 1) He can walk up the stairs at night. https://t.co/Nl6mL9BQvI

[Susan Matesanz @suzmatMD]

2) He walked for 2+ hours on Halloween and didn't need the wagon once 3) He jumped for the first time 4) He's barely falling anymore. Even when the FDA does approve - then the battle w/ insurance starts. Believe patients, believe rare disease experts, and change the system.

[Ben Samelson-Jones, MD, PhD @DrSamelsonJones]

Another first-in-human #AAV #genetherapy success at @ChildrensPhila supported by our Clinical In Vivo Gene Therapy Group w/ @LindseyAGeorge @suzmatMD

Gene Therapy Allows an 11-Year-Old Boy to Hear for the First Time https://t.co/zOcgzAzqKt

[Susan Matesanz @suzmatMD]

This is tragic - yet another instance of an insurance company blocking a rare disease family from access to a life-changing therapy. Give rare disease families a chance, and let doctors dictate treatment plans. #genetherapy. https://t.co/uxEBHHdpRQ

[Susan Matesanz @suzmatMD]

Great news - this is promising, excited to see what protein expression looks like at the higher doses. Higher protein levels with less frequent dosing would be great for patients! #duchenne #dmd
Dyne Therapeutics Announces Positive Initial Clinical Data https://t.co/j1onCRfxTn

[Susan Matesanz @suzmatMD]

Great news - excited to see more data on this drug, and looking forward to the future where we have more tools to treat #dystrophin disease

[Muscular Dystrophy News Today @mdnewstoday_]

The FDA granted EDG-5506 orphan drug and rare pediatric disease designations for Duchenne MD, and orphan drug designation for Becker MD.

https://t.co/lzkcfLBYH5

#MuscularDystrophyNews #MuscularDystrophy