{"id":141012,"date":"2025-09-16T11:21:10","date_gmt":"2025-09-16T11:21:10","guid":{"rendered":"https:\/\/www.newsbeep.com\/uk\/141012\/"},"modified":"2025-09-16T11:21:10","modified_gmt":"2025-09-16T11:21:10","slug":"girl-4-to-lose-the-ability-to-walk-speak-and-see-due-to-rare-genetic-disorder","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/uk\/141012\/","title":{"rendered":"Girl, 4, to lose the ability to walk, speak and see due to rare genetic disorder"},"content":{"rendered":"

A west London<\/a> couple are experiencing “prolonged grief” after their nearly four-year-old daughter was diagnosed with a rare, degenerative genetic disorder that will lead to blindness, paralysis, and a life expectancy of just 10 to 12 years without treatment.<\/p>\n

Emma Vukic and Max Bridge, both 38 from Acton<\/a>, said their only child, Rosie, who is \u201csuper lovable and affectionate\u201d, developed normally until the age of two, when she started to exhibit problems with her speech.<\/p>\n

The couple monitored her but in September 2024, Rosie experienced her first seizure \u2013 and since then, they said she has had around 3,000 seizures, which vary in severity.<\/p>\n

Following advice for gene testing, results in August confirmed Rosie has Batten disease<\/a> CLN2, which affects just 30 to 50 children in the UK, according to Great Ormond Street Hospital for Children (GOSH).<\/p>\n

Emma and Max said their \u201chearts were completely ripped into pieces\u201d by the news that their little girl will eventually lose the ability to walk, speak, see and swallow.<\/p>\n

\"Rosie<\/p>\n

Rosie started to exhibit problems with her speech around the age of two (Collect\/PA Real Life)<\/p>\n

Rosie has been able to access treatment for the disease, and while it is not curative, it is thought to slow the progression so she can spend more time making memories with her parents.<\/p>\n

\u201cIt\u2019s a phase of prolonged grief, that\u2019s how this is going to be, and at every negative milestone, you\u2019ll grieve again,\u201d Max said.<\/p>\n

\u201cThings have changed so dramatically already, and we\u2019re really worried about the future.<\/p>\n

\u201cI want her to be here forever, I don\u2019t want her to go \u2013 especially in the way that she\u2019s going to go.\u201d<\/p>\n

\"Max<\/p>\n

Max said Rosie is \u2018the most beautiful little girl\u2019 (Collect\/PA Real Life)<\/p>\n

Emma and Max, who have been together for 19 years, described their daughter as \u201cvery outgoing and inquisitive\u201d.<\/p>\n

\u201cShe\u2019s very adventurous, she loves animals and people \u2013 she always wants to be right in the thick of everything,\u201d Emma said.<\/p>\n

\u201cEveryone really connects with Rosie, she\u2019s always been an extremely happy child filled with love and energy.\u201d<\/p>\n

Max added: \u201cShe\u2019s the most beautiful little girl you\u2019ll ever see\u2026 she\u2019s my best mate.\u201d<\/p>\n

The couple said Rosie\u2019s development was \u201cpretty normal\u201d until the age of two when her speech \u201cnever really came along\u201d.<\/p>\n

\"Emma<\/p>\n

Emma said \u2018everyone really connects with Rosie\u2019 (Collect\/PA Real Life)<\/p>\n

\u201cAt her peak, she could say around 70 words,\u201d Max said.<\/p>\n

\u201cAt that age it\u2019s not that uncommon and we thought it would come along as she got older.<\/p>\n

\u201cInstead, she got worse and started to regress and lose that language.\u201d<\/p>\n

Emma said Rosie also started developing traits which potentially indicated she could have mild autism, such as \u201cjaw clenching\u201d, \u201chead banging\u201d, \u201csensory seeking\u201d and being \u201csuper hyper\u201d.<\/p>\n

Feeling it could have been down to her young age, Emma and Max continued to monitor her with guidance from medical professionals, but just before Rosie\u2019s third birthday, she experienced her first seizure on September 2, 2024.<\/p>\n

\"Rosie<\/p>\n

Rosie experienced her first seizure in September 2024 (Collect\/PA Real Life)<\/p>\n

Since then, they said Rosie has experienced more than 3,000 seizures, which vary in severity.<\/p>\n

\u201cOn her worst day, she had 140 seizures,\u201d Max said.<\/p>\n

\u201cShe has a wide range of seizures, from a tonic-clonic seizure where she will shake and fall on the floor \u2013 her longest one lasted for 17 minutes.<\/p>\n

\u201cThe other seizures she has are called atonic seizures, where it\u2019s like someone turned the light off, and without any warning, she crumples to the floor.\u201d<\/p>\n

As a result, Rosie was diagnosed with complex, drug-resistant epilepsy and, in January this year, Emma and Max were advised to try gene testing.<\/p>\n

\"Emma<\/p>\n

Emma and Max were advised to try gene testing for Rosie (Collect\/PA Real Life)<\/p>\n

They said they had to wait several months for the results, and on August 8 they were informed Rosie has Batten disease CLN2.<\/p>\n

Batten disease CLN2 is a rare, degenerative genetic disorder affecting 30 to 50 children in the UK, according to GOSH.<\/p>\n

It first causes seizures, then a gradual decline in a child\u2019s ability to walk, speak, see and swallow, alongside progressive dementia.<\/p>\n

The life expectancy for a child with the disease without treatment is 10 to 12 years, GOSH says.<\/p>\n

\"Emma<\/p>\n

Emma and Max said their \u2018hearts completely ripped into pieces\u2019 following Rosie\u2019s diagnosis (Collect\/PA Real Life)<\/p>\n

\u201cOur hearts were completely ripped into pieces; it was the worst thing we could have possibly imagined,\u201d Emma said.<\/p>\n

\u201cHow do you process someone telling you your child is going to pass away so young?\u201d<\/p>\n

Max added: \u201cIt was obviously a shock, and we were very upset \u2013 but I turned more towards, \u2018what can we do? What are the treatments?\u2019<\/p>\n

\u201cIt became apparent there\u2019s nothing we can do really, we were devastated.\u201d<\/p>\n

According to GOSH, Batten disease CLN2 is caused by a change in a gene responsible for making a specific enzyme in the nervous system.<\/p>\n

\"Rosie<\/p>\n

Rosie will progressively lose the ability to walk, speak, see and swallow (Collect\/PA Real Life)<\/p>\n

Since 2019, an enzyme replacement therapy has been used to help prevent neurological deterioration in children with the disease under a managed access agreement, GOSH says.<\/p>\n

Rosie was diagnosed in time to receive the treatment, and she will have infusions every two weeks for the rest of her life, Max said.<\/p>\n

The treatment may soon be unavailable for newly diagnosed children, however, due to funding issues, according to the National Institute for Health and Care<\/a> Excellence.<\/p>\n

\u201cThe eventual path of the disease is the same, but children with treatment will get more time with their families \u2013 more birthdays, more good times,\u201d Max said.<\/p>\n

Emma said Rosie has \u201cregressed a lot\u201d over the last year and can no longer walk independently and is experiencing speech loss.<\/p>\n

\"Emma<\/p>\n

Emma said Rosie has \u2018always been an extremely happy child\u2019 (Collect\/PA Real Life)<\/p>\n

The pair feel Rosie is already suffering from childhood dementia.<\/p>\n

\u201cWho knows how long she has now, it could be a couple of years, it could be quite a bit longer,\u201d Max said.<\/p>\n

\u201cWe have to find a way to continue somehow, life and work still has to continue, even if it seems so pointless now.<\/p>\n

\u201cI want to spend every moment with Rosie and Emma, but that\u2019s not possible.\u201d<\/p>\n

Emma and Max have launched a GoFundMe<\/a> page to \u201cgive Rosie the best possible life with whatever time she has left\u201d.<\/p>\n

\"Rosie<\/p>\n

Rosie is receiving treatment for Batten disease CLN2 (Collect\/PA Real Life)<\/p>\n

They hope to take her abroad for the first time to Disneyland Paris<\/a>, and plan special trips and activities at home.<\/p>\n

Their fundraiser, which has raised more than \u00a319,000, will also be used to give Rosie therapies such as music, water and rebound therapy.<\/p>\n

Symptoms of Batten diseaseBatten Disease Family Association<\/p>\n

Symptoms vary by type, but early signs generally include:<\/p>\n

Behavioural and personality changes<\/p>\n

Clumsiness and coordination issues<\/p>\n

Other symptoms can include:<\/p>\n

Cognitive decline (thinking and reasoning difficulties)<\/p>\n

Speech and language problems<\/p>\n

Muscle spasms, tremors, and twitches<\/p>\n

Hallucinations and episodes of psychosis<\/p>\n

Muscle rigidity and weakness<\/p>\n

Heart arrhythmias (in teenagers and young adults)<\/p>\n

Emma and Max hope to \u201cshine a light\u201d on Batten disease CLN2 to prevent other families from \u201cfeeling lost\u201d with the proposed changes to treatment options.<\/p>\n

\u201cThere needs to be more support for families and more research into the disease itself,\u201d Max said.<\/p>\n

The family has received support from the Batten Disease Family Association<\/a> (BDFA), a UK charity providing advice and care to families.<\/p>\n

\"Max<\/p>\n

Max said Rosie is his \u2018best mate\u2019 (Collect\/PA Real Life)<\/p>\n

Liz Brownnutt, chief executive of the BDFA, said: \u201cReceiving a diagnosis of Batten disease is devastating and has a profound impact on the whole family.<\/p>\n

\u201cAs a patient organisation, the BDFA are here to support families like Rosie\u2019s from the point of diagnosis, to walk alongside them throughout their journey and ensure that they have the best possible support in place so that they are never alone.<\/p>\n

\u201cThe work we do to advocate for families across health, education and social care is crucial to helping families to cope and thrive in the face of adversity.\u201d<\/p>\n

To find out more, visit the fundraiser for Rosie<\/a>. For more information, visit the BDFA website<\/a>.<\/p>\n","protected":false},"excerpt":{"rendered":"A west London couple are experiencing “prolonged grief” after their nearly four-year-old daughter was diagnosed with a rare,…\n","protected":false},"author":2,"featured_media":141013,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[25],"tags":[7675,916,65519,90,56,54,55],"class_list":{"0":"post-141012","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-batten-disease","9":"tag-genetics","10":"tag-rosie","11":"tag-science","12":"tag-uk","13":"tag-united-kingdom","14":"tag-unitedkingdom"},"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/141012","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/comments?post=141012"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/141012\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media\/141013"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media?parent=141012"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/categories?post=141012"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/tags?post=141012"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}