<div>My incredible son Jack has a disease that we have a chance to cure - can you help us get him into a promising new gene therapy treatment?
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<div>Jack is the sweetest boy, 2 years old, with the best smile, and we want you to be part of his journey to find a cure for him and others like him! Please donate and share in honor of his 2nd birthday coming up on October 19th!
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<div>Jack has an extremely rare de novo (no one else in the family has it) genetic disorder with a GABRG2 – p.A106T c.316 G&gt;A (gain of function) variant resulting in hypotonia, intractable epilepsy, global development delay, nystagmus, asthma, continuous productive cough, sleep variant laryngomalacia, non-verbal, non-ambulatory, g-tube dependent, hip dysplasia, severe intellectual disability, and dystonia. Jack’s variant is 1 of 25 known cases internationally (according to a researcher, Dr. Ortiz out of Denmark, who has dedicated his work exclusively to study this specific variant for over 3 years).
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<div>Jack has OT/PT weekly, technical OT for communication, speech bi-monthly, sees a chiropractor 2X a week, and has 12 specialists that work hard giving him the best care available.
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<div>We are part of the amazing Cure-GABA-A Foundation – a group of people who are working extremely hard to find a cure for our kids. They are SUPER close to a treatment for Jack’s specific variant, GABRG2 – loss of function. This treatment is intended to help repair Jack’s “leaking” GABA receptor. If all goes well with presenting to the FDA after the mice trials have had great success, the goal is to have treatment available in the Spring of 2027!!!
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<div>About the foundation:
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<div>Cure GABA-A Variants, a non-profit organization, has been focusing on groundbreaking research and the organization of a digital Natural History Study for the various GABA-A Variants.
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<div>Founded in 2023, their mission was to address the urgent need for effective treatments for individuals affected by GABA-A Variants, a group of genetic disorders that cause debilitating neurological symptoms.
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<div>The organization has the sole focus of understanding the most efficient and effective way to develop potential therapies for GABA-A Variants.
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<div>They have collaborated with renowned global academic institutions to conduct extensive research projects in collaboration with leading experts in the field. Their dedicated team of scientists and clinicians have made remarkable discoveries, identifying key elements of the understanding of GABA-A Variants.
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<div>Furthermore, the organization’s goal is to secure grants and funding from prestigious sources, enabling us to accelerate our research efforts.
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<div>They plan to publish our findings in reputable scientific journals and hold annual Cure GABA-A Scientific Roundtable/ or Conference. We encourage our researchers to present the work at international conferences, establishing ourselves as a trusted authority in the field of GABA-A Variant research.
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<div>Jack’s Journey:
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<div>Jack was born on 10/19/24 after a normal "unremarkable" pregnancy. I was induced at 37.5 weeks due I had high BP during pregnancy. At birth, his Apgar score was 5 and then within 5 minutes it was noted at an 8. He was notably "floppy,” not as warm as he should have been, and later that night, he stopped breathing and was rushed to the NICU. He initially had trouble eating and would desat while trying so he spent the first 1.5 weeks on a feeding tube until he learned how to drink from a bottle. He had an MRI done and it was “unremarkable.” They put him on a very outdated EEG where he did not show seizure activity. He spent 2 weeks in the NICU, and was diagnosed with reflux and sleep apnea, both of which he does not have. He was discharged on Enfamil rice formula and with a sleep apnea monitor.
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<div>Additionally, diagnosed with hypotonia (low muscle tone), which at the time, we didn't realize was so severe. We just thought that he would need OT/PT and get the support he needs.
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<div>The NICU doctor also started the FISH (Fluorescence in Situ Hybridization) panel and microarray, thinking that Jack had Prader Willi Syndrome. We knew something wasn't right - just the way he moved, he was a very calm baby, did not interact or smile much at the time, and the doctors brushed it off saying "babies do weird things," "he's just acting like a newborn still," "let's wait and see."
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<div>Jack's FISH panel came back negative, and we were told he was "fine."
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<div>When he turned 2 months old, he started having these arm/leg jerking episodes and then stopped for about 2 weeks. We thought it was reflux related.
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<div>January 2025: Right before I was going back to work from maternity leave, Jack had just turned 3 months old, he started having what I could see as 8+ seizures a day along with several O2 desats to the 40's (babies should not go below 88 for O2).
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<div>All the children's neurology specialists within a 3-hour radius were booked out 3-5+ months to get an initial consultation so we took him to Lurie Children's where we waited for 8 hours in the ER until he was admitted on the neurology floor. Those 8 seizures+ that we saw were actually 20+ (a mixture of clinical (meaning while awake) + subclinical (while sleeping)) and Jack was diagnosed with intractable epilepsy, which is basically epilepsy that is hard to control with medication. He was in the hospital for over a week, trying to figure out what medications could help with seizure control, and was prescribed Keppra &amp; Oxcarbazepine.
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<div>All the doctors were really concerned because this was not an easy diagnosis, given that otherwise, he was healthy. We started genetic testing, which you first have you go through the basic panels, then the mitochondria, then the insurance will cover the whole genome sequencing ($36K test).
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<div>February 2025: Jack had a SVT event (Supraventricular Tachycardia where the heart gets stuck at a high heart beat) - his heart was stuck at 252 for 25 minutes. Devin rushed him to the ER while I took care of Elliott. He was then transferred to Lurie's. He tested positive for the rhinovirus, but the doctors thought the 2nd ASM that he was prescribed may have been causing it (Oxcarbazepine) and had triggered the SVT event and that he likely had an ion channel disorder. They ended up changing his medication from Oxcarbazepine to Clobazam. He was also prescribed another medication, propranolol, to help keep his heart rate lower that he had to take until he was a year old. One concern I had when leaving is that he was drooling 4X his normal amount on this new med.
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<div>March 2025: Jack started having these strange events where he would try to swallow his saliva and his body would go crazy, moving all over, and noticeably uncomfortable and gasping for air. Instead of taking 10-20 minutes to drink a bottle, he was taking an hour plus. He dropped from the 30% percentile in weight to 5%. He was admitted again for over a week. They administered a swallow test after a few days of monitoring him on the EEG and all his food he was consuming by mouth was going into his lungs. He could no longer eat from mouth, and had to get a NG tube, and was ultimately diagnosed with severe oral-pharyngeal dysphagia. We were very lucky he did not develop pneumonia or worse.
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<div>We were happy we figured out the issue but were really confused about how it happened (note this for later in his story). He was taken off Clobazam and put on Topiramate. This brought on fighting acidosis as a new challenge, so we had to adjust his sodium bicarb several times to to keep his CO2 levels in the right zone. It was noted that he also had global developmental delay showing gross and fine motor delays. As well, he was tracking with his eyes but not consistently so was referred to Ophthalmology.
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<div>April 2025: Jack was admitted for an 2-day EEG study and his amazing neurologist increased his dosage of topiramate to help with increased seizure control and to help with desats. We also realized on this visit that he cannot take any ASM’s in the Ativan family of drugs (Clobazam) due to how his body reacts with intensively increased desats (15+ a day). She also suggested getting him on the keto diet, which we started the process.
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<div>We finally received answers once Jack's whole genome sequencing came back from genetics, reflecting the variant in GABRG2. However, there was not anything about the condition that we didn't already know other than he will have normal life expectancy. With quick research, I found the Cure GABA foundation and shared Jack's story.
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<div>June 2025: Jack was admitted to establish the keto diet. Again, was fighting acidosis as being on the keto diet + the anti-seizure medications increase the C02 reading, and ultimately added EFFER-K too. This diet was life changing for him as he went from having 6-12 desaturation events while sleeping to having 4-6, so definitely helped.
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<div>Jack also had an appointment later in the month with Ophthalmology where he noted that Jack could see and had healthy eyes, but they were delayed developing so his eyes would become cross-eyed at times. He also notably has nystagmus where the eyes shake, which is common of those with epilepsy.
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<div>Jack also got his SMILE! Loves to laugh with his big brother, Elliott. :)
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<div>July 2025: We took a family trip to Jamaica. We were told by Jack's specialists previously at Lurie's that he may never be able to hold up his head, and something about the sunshine of Jamaica - He started holding up his head!!!
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<div>August 2025: Jack was rushed to the ER and then transferred to Lurie’s after he became suddenly very sick with a respiratory virus/belly breathing/congested/runny nose and had respiratory failure resulting in getting placed on high flow for a few days. He tested positive for the rhinovirus and was diagnosed with bronchiolitis. He was prescribed a suction device, nebulizer treatments, and oxygen (.5 liters – 1 liter while sleeping). Jack was referred to the aerodigestive clinic to further see what could be done in regards to his desats and swallow issues. This clinic is a combined practice of ENT/pulmonology/GI to figure out surgical interventions that could help him.
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<div>We requested a referral from Jack’s neurologist to see a specialist at Shirley Ryan Ability Labs to help Jack with mobility.
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<div>September 2025: Jack had an appointment with the aerodigestive clinic in which they recommended that he gets the G-tube for long-term use versus using the NG tube, pulmonology ordered him a shakey vest (High-Frequency Chest Wall Oscillation) for daily use, sleep study conducted, and another swallow test.
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<div>Jack had the 2nd swallow test done, and to all of our surprise, he could swallow with zero aspiration. He could now try eating puree’s by mouth. His favorite are apple sauce with butter and mashed avocado.
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<div>October 2025: Jack was admitted again with a respiratory virus/fever, turned out to be the rhinovirus again, and also had a UTI. He was placed on the high flow again for a few days. He was prescribed a 3% sodium chloride neb to help with air clearance as part of his regimen, to hopefully avoid him getting sick again.
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<div>We connected with Agustina at Cure GABA-A who referred us to speak with top researcher, Sebastian Ortiz!
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<div>Later in the month, we spoke with a Sebastian out of Denmark who has exclusively studied Jack’s variant, and suggested we get him back on Oxcarbazepine immediately as this ASM has shown in 30% of patients to eliminate seizure burden. This was the medication he had been on prior to the SVT event. We also learned that any "Ativan" family of ASM's cause Jack's GABA receptor to go from having a "leak" to a "flood" and that's why he regressed back in March 2025 with feeding.
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<div>November 2025: Jack had a sleep study done and showed no issues. Jack was seizure free, clinically, since May and started to have clinical seizures again. We asked his neurologist if we could add Oxcarbazepine as another ASM, and provided the researcher’s information, and she agreed! He quickly became seizure free (so we thought).
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<div>Jack went to Shirley Ryan Ability Lab and the doctor prescribed a wheelchair, stander, bath chair, activity chair, vest (to help with core while sitting), and AFO’s (ankle braces) to help with mobility.
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<div>December 2025: Jack’s surgery to get his g-tube went well
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<div>Jack was approved for the waiver for Indiana, which is a huge relief as he will have many resources until he's 62 years old. Also, will have care in case something happens to me/Devin. On the wait list until sometime late in 2026 or 2027.
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<div>February 2026: admitted for a week to Lurie's with adenovirus. He lost 2lb in 4 days. Breakthrough seizure activity due to having trouble keeping his meds down as well.
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<div>March 2026: admitted for a week to Lurie's with adenovirus, astrovirus, and rhinovirus.
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<div>April 2026: We started to take Jack to this chiropractor called Adjusted Living that specializes in treating the central nervous system and within 2 weeks, Jack started lifting his head more, grasping toys longer, being more alert, twisting his body while sitting, saying "mmmmm (mom)," and more.
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<div>Jack finally received the stander. Still waiting on the other equipment.
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<div>May 2026: Jack’s surgery to get the triple scope and impedance study (to test for reflux) was completed, and he was diagnosed with sleep variant laryngomalacia (floppy voice box while sleeping) and why has snored since birth. No reflux! No surgical intervention suggested. Jack also had a 24-hour EEG while admitted during this visit as we didn’t believe he was having any seizures (both clinically and subclinically) and we were right. Seizure free!!!
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<div>Jack saw his ophthalmologist and he recommended he has strabismus surgery to cut the muscles around his eyes as right now; Jack cannot see depth. We are planning to have this done at the end of the year to provide him with a better quality of life.
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<div>July 2026: Jack had a severe respiratory illness and didn't land in the hospital as we were able to manage his symptoms from home, thanks to all his medical equipment, medication, and advise from all of his awesome providers!
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<div>August 2026: Another respiratory illness, and no hospital stay! Winning!
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<div>We also had a crazy storm come through where we didn't have power for 9 days, which is a challenge with a kiddo that requires power for nearly all of his medical devices. Thanks to his daddy for picking up a generator and portable air conditioning unit, we are set up for success if this happens again.
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<div>We also took our first road trip to Kansas City to visit with family, and Jack did great.
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<div>October 2026: Finally picked up Jack's wheelchair!
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<div>He had a 6-month check-up with cardiology and if all checks out after his heart monitor results come back normal (that he wore for 24 hours), he only has to see his doctor every year (versus every 2-3 months after his SVT episode, and the last visit, we had a 6 month gap). So exciting!
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<div>Jack's also in process of getting an AAC device for communication, and hopefully soon, a nurse!
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<div>We thank you for taking the time to read Jack's story and appreciate your donation to support finding a cure so he can have an amazing quality of life ahead!
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Celebrate Jack Shannon's Birthday by Supporting CURE GABA-A

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Celebrate Jack Shannon's Birthday by Supporting CURE GABA-A

Just $479 to go!
Make an impact.