{"id":219139,"date":"2025-09-11T21:14:18","date_gmt":"2025-09-11T21:14:18","guid":{"rendered":"https:\/\/www.europesays.com\/us\/219139\/"},"modified":"2025-09-11T21:14:18","modified_gmt":"2025-09-11T21:14:18","slug":"parents-of-boy-2-with-inad-are-racing-the-clock-to-help-find-a-cure","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/219139\/","title":{"rendered":"Parents of Boy, 2, With INAD Are Racing the Clock to Help Find a Cure"},"content":{"rendered":"

After Jack Drury was born prematurely, he participated in therapies to help him meet his developmental milestones. Jack thrived at first, but after he turned 2 in June, his development slowed.<\/p>\n

\u201cOne of the occupational therapists suggested that we actually go see a neurologist,\u201d Jack’s father, Tim Drury, 37, of South Amboy, New Jersey, tells TODAY.com. \u201cThe neurologist conducted a variety of tests one of which was a genetic test.\u201d <\/p>\n

The genetic test revealed Jack had infantile neuroaxonal dystrophy (INAD), a rare genetic disorder that causes children to slowly lose skills they once had. It is progressive and life-limiting with no treatment or cure. The Drury family felt devastated. <\/p>\n

\u201cIt was horrific,\u201d mom Kelsey Drury, 34, tells TODAY.com. \u201cWe thought it was a death sentence.\u201d<\/p>\n

The family connected with a nonprofit, the INADcure Foundation, which promotes research into treatments like gene therapy for INAD. Knowing that was the only hope to treat Jack, they started fundraising. In weeks, they\u2019ve raised more than $650,000.<\/p>\n

\u201cWe figured let\u2019s try to give ourselves some hope and see how we can help and channel all this energy into something positive,\u201d Kelsey Drury says. \u201cIt\u2019s really a story of our community coming together.\u201d <\/p>\n

\u2018Utterly Confused\u2019 <\/p>\n

While Kelsey Drury\u2019s pregnancy was healthy for the most part, at 32 weeks pregnant, she became ill. <\/p>\n

\u201cI started developing pain in my right side and then overall body aches,\u201d she says. \u201cI remember taking a COVID test because I felt sick, chills and body aches.\u201d <\/p>\n

She visited her OB to make sure she was OK. While Kelsey Drury\u2019s blood pressure looked normal, the doctor also ran blood tests. <\/p>\n

\u201cThe next day, he got (the results) back, and he called me and said, \u2018Get to the emergency room right now. You have HELLP syndrome,\u2019 which means my liver enzymes were extremely high and my platelets were very low,\u201d she says. <\/p>\n

\"Child\"While Kelsey Drury felt helpless after Jack’s diagnosis of infantile neuroaxonal dystrophy, she soon found hope in fundraising for a gene therapy treatment for INAD.Courtesy Drury Family <\/p>\n

HELLP<\/a>, which stands for hemolysis, elevated liver enzymes and low platelets, is a dangerous form of preeclampsia, causing death in a quarter of patients, the Preeclampsia Foundation says. Delivering the baby generally helps stabilize the mom, and then doctors can offer other treatments. <\/p>\n

At 33 weeks, Kelsey Drury gave birth to Jack, who was 3 pounds, 15 ounces. For 17 days, he stayed in the neonatal intensive care unit for oxygen support and to gain weight.<\/p>\n

\u201cHe came out breathing on his own,\u201d Kelsey Drury says. \u201cHe was able to drink a bottle on his own.\u201d <\/p>\n

When Jack neared his first birthday, the couple realized he was \u201cvery behind,\u201d Kelsey Drury notes, and he started various therapies. For about a year, he improved, before \u201che actually started to regress,\u201d she says. <\/p>\n

Jack had been scooting around on his bum to get around, but stopped doing it, for example. That\u2019s when the family decided to take him to a neurologist. They didn\u2019t anticipate that Jack was living with a serious condition. <\/p>\n

\u201cHe didn\u2019t have any physical features that would indicate anything severe,\u201d Kelsey Drury says. \u201cWe were thinking of more of a minor disorder or something with his muscles \u2026 or an autoimmune disorder.\u201d <\/p>\n

Doctors also seemed unsure as to what was happening to Jack. While he had hypotonia, low muscle tone, doctors didn\u2019t seem worried about it.<\/p>\n

\u201cThe medical professionals were utterly confused at what was causing his delays,\u201d Tim Drury says. \u201cThere (were) some physical symptoms associated with like a muscular dystrophy. There (were) other symptoms associated with other things.\u201d<\/p>\n

\"EvenEven though children with infantile neuroaxonal dystrophy often lose their ability to do many things, Jack still eats by mouth and loves pasta, meatballs and peanut butter puffs.child \/ Courtesy Drury Family <\/p>\n

When the doctor revealed Jack had INAD, the family felt stunned. <\/p>\n

\u201cIt was probably the worst news that we could have ever received,\u201d Kelsey Drury says. \u201cIt was, \u2018Your child\u2019s only going to live until about 10 years old and there\u2019s no cure.\u2019 To hear those words, it was heartbreaking.\u201d <\/p>\n

Tim Drury agrees. <\/p>\n

\u201cWe were absolutely blindsided to the fact that Jack had an incredibly rare disease that the neurologist that gave us the diagnosis said she had to Google information about it because she\u2019s never heard of it,\u201d he says.<\/p>\n

For the next week, the two spent their time \u201ccherishing every moment with him,\u201d snapping photos as much as they could. Their grief persisted.<\/p>\n

\u201cI was having dreams of planning his funeral because we thought it was over,\u201d Kelsey Drury says. \u201cWe thought it was a death sentence.\u201d<\/p>\n

After about two weeks, they reached out to the founder of the INADcure Foundation<\/a>, Leena Panwala, and started learning more about INAD. <\/p>\n

After Panwala\u2019s daughter received an INAD diagnosis in 2017, she started the foundation focused on finding treatments and cures. Doctors associated with the organization have been researching a potential gene therapy for the disease, which “will help the quality of life and potentially slow or stop the progression,\u201d Tim Drury says. <\/p>\n

\u201cShe mentioned the possibility of this gene therapy,\u201d Kelsey Drury says. \u201cWe started to come around to the idea that maybe there is some hope.\u201d <\/p>\n

Gene Therapy for INAD<\/p>\n

Often, the first sign something is wrong with babies with INAD is low muscle tone. <\/p>\n

\u201cIt starts with muscle tone not being where we expect it to be, and they typically start to have difficulties with motor milestones, like walking,\u201d Dr. Darius J. Adams, medical director for the Jacobs Levy Genomic Medicine and Research Program at Atlantic Health, tells TODAY.com. \u201cAfter that, this condition can progress to where additional systems are impacted \u2014 for example, the ability to swallow.\u201d <\/p>\n

\"TheThe Drury family tries to make life happy for Jack, who enjoys dogs, being outside and Ms Rachel,child \/ Courtesy Drury Family <\/p>\n

Over time, children with INAD can no longer sit up or eat on their own. Often they require gastric tubes for feeding and eventually need support breathing. It is fatal. <\/p>\n

\u201cMost children, on average, will die by 10 years of age,\u201d Adams says. \u201cSome children, depending on their circumstances and what infections they\u2019ve encountered, can live longer.\u201d <\/p>\n

Estimates of how many children live with INAD are about one child in a million. Yet Adams says that \u201cfar fewer\u201d than 300 children in the United States have been diagnosed with INAD, which would make it rarer than estimated.<\/p>\n

\u201cIt does require relatively sophisticated genetic testing to diagnose this, and so it is possible that we\u2019re not diagnosing some of these kids,\u201d Adams explains. <\/p>\n

It also can present like other disorders, such as Rett syndrome<\/a>, complicating diagnosis. <\/p>\n

In kids with INAD, both parents have to carry a mutation to the PLA2G6 gene, which creates a 25% chance of developing the condition. Carrier don\u2019t have symptoms of the condition. <\/p>\n

While there\u2019s no treatment, interventions such as physical therapy, occupation therapy and feeding therapy can help children live better lives. But, \u201cthose therapies don\u2019t really stabilize the condition or prevent progression,\u201d Adams says. <\/p>\n

Adams and his colleagues are investigating whether giving children with INAD a \u201cfunctioning copy of PLA2G6 will hopefully halt the disease progression,” he explains. He\u2019s designing a Phase 1 and 2 clinical trial to make sure the treatment is safe and works.<\/p>\n

\u201cWe\u2019re going to be looking at both those things with this study,\u201d Adams says. <\/p>\n

They\u2019re recruiting about 10 children to receive the intervention, and their progress will be tracked against a natural history study of INAD, which \u201cwill essentially act as our control group.\u201d <\/p>\n

The U.S. Food and Drug Administration allows such designs in the case of rare disease, Adams notes, because it is difficult to find enough patients for an experimental and control group. Adams will soon submit the study to the FDA for approval. <\/p>\n

The INADcure Foundation has been raising money to support the gene therapy research, including animal trials and toxicity studies. If the FDA approves the clinical trial, more funding will be needed, which is why the Drury family\u2019s efforts are so important.<\/p>\n

Typically, for clinical trials for new treatments, a biotech company will fund them, but those for ultra-rare diseases like Jack\u2019s are less profitable, so there\u2019s less interest from the industry, Adams explains. That’s where INADcure Foundation has come in. <\/p>\n

\u201cThis is a challenging journey,\u201d Adams adds.<\/p>\n

Jack\u2019s Miracle Mission <\/p>\n

Jack loves to laugh, finding \u201cthe littlest things\u201d hilarious. Sometimes he gets frustrated because he used to be more mobile, and now he can\u2019t get around as well. Yet, he remains calm in most situations. And Jack intently follows conversations. He can\u2019t speak, but he tries to mimic sounds and signs to communicate. <\/p>\n

\u201cIf you make like the slightest funny noise or funny face, he has this belly laugh that is so loud,\u201d Kelsey Drury says. \u201cSometimes he laughs so hard he gives himself hiccups. It\u2019s the cutest thing.\u201d <\/p>\n

\"Child\"Doctors say it’s important for Jack to build muscle, so his parents encourage him to use various walkers and activity chairs to keep him engaged.Courtesy Drury Family <\/p>\n

Jack also loves his grandparents\u2019 dog and being outside. <\/p>\n

\u201cWe have made it our mission to do anything we can to make him laugh,\u201d Kelsey Drury says. \u201cWe\u2019re just trying to make him happy and comfortable.\u201d<\/p>\n

He hasn\u2019t lost any cognitive abilities yet, and the doctors encourage the family to push him in therapies to help him develop any muscle that he can.<\/p>\n

It’s unclear if Jack will be one of the children selected for the gene therapy trial. Generally, gene therapy halts the progression of a disease. This creates a sense of urgency. <\/p>\n

\u201cWe\u2019re just in a major push to get this gene therapy approved so that, if he can get it and we can slow the symptoms, we could potentially change the course of his life,\u201d Kelsey Drury says. \u201cIt\u2019s really giving us hope.\u201d<\/p>\n

While they still worry, the family has decided to focus on how they can help Jack. <\/p>\n

\u201cI don\u2019t think either of us could ever articulate the emotions and the weight that this carries,\u201d Tim Drury says. \u201cWe have to do whatever we possibly can for Jack, and sitting around and getting into some of the more negative feelings of heartbreak and despair isn\u2019t going to help our child.\u201d<\/p>\n

That\u2019s why the family started Jack\u2019s Miracle Mission, a fundraiser to support the gene therapy research. Tim and Kelsey Drury shared about it online, and they felt surprised by how many people have donated so far.<\/p>\n

\u201cIt was the power of social media,\u201d Kelsey Drury says. \u201cPeople must have been coming across the page, reading the story and donating without any context from us.\u201d<\/p>\n

\"JackJack is happy and attentive and tries speaking and making sounds. child \/ Courtesy Drury Family <\/p>\n

The two work full time and care for Jack, so it can be tough to continue promoting the fundraiser. Its success keeps them motivated. <\/p>\n

\u201cWe haven\u2019t had a win in a really long time,\u201d Kelsey Drury says. \u201cFor the first time in a really long time, this feels like a win.\u201d <\/p>\n","protected":false},"excerpt":{"rendered":"After Jack Drury was born prematurely, he participated in therapies to help him meet his developmental milestones. Jack…\n","protected":false},"author":3,"featured_media":219140,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[815,159,67,132,68],"class_list":{"0":"post-219139","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-genetics","9":"tag-science","10":"tag-united-states","11":"tag-unitedstates","12":"tag-us"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@us\/115187736323838231","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/219139","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/comments?post=219139"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/219139\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/219140"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=219139"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=219139"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=219139"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}