{"id":96153,"date":"2025-07-27T07:27:21","date_gmt":"2025-07-27T07:27:21","guid":{"rendered":"https:\/\/www.europesays.com\/us\/96153\/"},"modified":"2025-07-27T07:27:21","modified_gmt":"2025-07-27T07:27:21","slug":"newborn-baby-dies-from-rare-genetic-condition-which-scans-failed-to-pick-up","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/us\/96153\/","title":{"rendered":"Newborn baby dies from rare genetic condition which scans failed to pick up"},"content":{"rendered":"<p class=\"paragraph_paragraph__iYReA\">Moments after Dylan and Rochelle Evrard were pronounced husband and wife, they were showered with pink confetti.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Cyndi Lauper&#8217;s Girls Just Want to Have Fun played over a loudspeaker as they celebrated with family and friends.<\/p>\n<p class=\"paragraph_paragraph__iYReA\"><strong>WARNING: This article includes information and images relating to pregnancy loss and neonatal loss, which some readers may find distressing.<\/strong><\/p>\n<p class=\"paragraph_paragraph__iYReA\">The newlyweds were expecting their first baby and their Gold Coast wedding in March 2023 doubled as a gender reveal.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Rochelle was 22 weeks&#8217; pregnant.<\/p>\n<p><img decoding=\"async\" alt=\"a couple who have just got married with pink confetti behind them\" class=\"Image_image__5tFYM ContentImage_image__DQ_cq\"  src=\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/07\/5c7d67e0364784202df10426ee1bf40c\" loading=\"lazy\" data-component=\"Image\" data-lazy=\"true\"\/><\/p>\n<p class=\"Typography_base__sj2RP FigureCaption_text__zDxQ5 Typography_sizeMobile12__w_FPC Typography_lineHeightMobile20___U7Vr Typography_regular__WeIG6 Typography_colourInherit__dfnUx\" data-component=\"Typography\">Dylan and Rochelle Evrard&#8217;s wedding doubled as a gender reveal for their baby. (Supplied)<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Milli Rose Remidy Evrard was conceived naturally after years of trying.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Rochelle had severe endometriosis \u2014 when tissue similar to the lining of the womb grows outside the uterus, affecting a woman&#8217;s ability to conceive.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Surgery paved the way for pregnancy.<\/p>\n<p>Milli born with broken arms and legs<\/p>\n<p class=\"paragraph_paragraph__iYReA\">The Evrards&#8217; baby daughter was born by caesarean section in the Pindarra Private Hospital at Benowa, on the southern Gold Coast, about four months after their wedding.<\/p>\n<p><img decoding=\"async\" alt=\"Black and white photo of a woman and bearded man looking down at a newborn baby in their arms on a hospital bed\" class=\"Image_image__5tFYM ContentImage_image__DQ_cq\"  src=\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/07\/d082c0a770efcf3e45aeb1f867ebcb49\" loading=\"lazy\" data-component=\"Image\" data-lazy=\"true\"\/><\/p>\n<p class=\"Typography_base__sj2RP FigureCaption_text__zDxQ5 Typography_sizeMobile12__w_FPC Typography_lineHeightMobile20___U7Vr Typography_regular__WeIG6 Typography_colourInherit__dfnUx\" data-component=\"Typography\">Dylan and Rochelle Evrard with their baby Milli, who lived for just six days. (Supplied.)<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Their tiny, much-wanted baby girl had two broken arms and two broken legs after the delivery.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Scans and tests during the pregnancy had failed to pick up Milli had an extremely rare genetic condition, despite Rochelle complaining about failing to feel her moving during the pregnancy.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;My whole pregnancy, I was expressing that I was a bit concerned,&#8221; she said.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;I never had a kick count.&#8221;<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Within hours of her birth on July 14, Milli was transferred to the Mater Mothers&#8217; Hospital neonatal critical care unit (NCCU) in Brisbane.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">She opened her eyes and locked them onto her dad, Dylan, as she was placed in an ambulance for the drive north to Brisbane.<\/p>\n<blockquote class=\"EmphasisedText_quote__TE6kn\"><p>&#8220;We didn&#8217;t know that would be the one and only time she ever opened her eyes,&#8221;<\/p><\/blockquote>\n<p>  Rochelle said.<img decoding=\"async\" alt=\"tattoo of a woman holding a baby on a thigh\" class=\"Image_image__5tFYM ContentImage_image__DQ_cq\"  src=\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/07\/05c52da16161c82884102b97a31eb598\" loading=\"lazy\" data-component=\"Image\" data-lazy=\"true\"\/><\/p>\n<p class=\"Typography_base__sj2RP FigureCaption_text__zDxQ5 Typography_sizeMobile12__w_FPC Typography_lineHeightMobile20___U7Vr Typography_regular__WeIG6 Typography_colourInherit__dfnUx\" data-component=\"Typography\">Rochelle Evrard has a tattoo on her right leg of her holding Milli. (Supplied: Annette Dew)<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Milli died in her parents&#8217; arms six days later.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Amid the grief, they feel blessed they had almost a week with her.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;She was beautiful,&#8221; Rochelle said.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;When we touched her, she reacted. She couldn&#8217;t move her body but her little toes would go or her little fingers.<\/p>\n<blockquote class=\"EmphasisedText_quote__TE6kn\"><p>&#8220;She definitely reacted to our touch and our sound.&#8221;<\/p><\/blockquote>\n<p>Nursery and home ready for a baby<\/p>\n<p class=\"paragraph_paragraph__iYReA\">The Evrards&#8217; home at Mudgeeraba, in the Gold Coast hinterland, had been meticulously prepared to take their baby home.<\/p>\n<p>If you, or someone you know, needs help:<\/p>\n<ul class=\"ContentAlignment_marginBottom__4H_6E ContentAlignment_overflowVisible__N2zKU\">\n<li><a class=\"Link_link__5eL5m ScreenReaderOnly_srLinkHint__OysWz Link_showVisited__C1Fea Link_showFocus__ALyv2\" href=\"https:\/\/www.lifeline.org.au\/\" data-component=\"Link\" rel=\"nofollow noopener\" target=\"_blank\">Lifeline<\/a>\u00a0on 13 11 14<\/li>\n<li><a class=\"Link_link__5eL5m ScreenReaderOnly_srLinkHint__OysWz Link_showVisited__C1Fea Link_showFocus__ALyv2\" href=\"http:\/\/stillbirthfoundation.org.au\/\" data-component=\"Link\" rel=\"nofollow noopener\" target=\"_blank\">Stillbirth Foundation<\/a>\u00a0(research and education to prevent stillbirth) on 02 9557 9070<\/li>\n<li><a class=\"Link_link__5eL5m ScreenReaderOnly_srLinkHint__OysWz Link_showVisited__C1Fea Link_showFocus__ALyv2\" href=\"https:\/\/rednosegriefandloss.org.au\/\" data-component=\"Link\" target=\"_blank\" rel=\"noopener noreferrer nofollow\">Red Nose 24\/7 grief and loss support line<\/a>\u00a0on 1300 308 307<\/li>\n<li><a class=\"Link_link__5eL5m ScreenReaderOnly_srLinkHint__OysWz Link_showVisited__C1Fea Link_showFocus__ALyv2\" href=\"https:\/\/mensline.org.au\/\" data-component=\"Link\" target=\"_blank\" rel=\"noopener noreferrer nofollow\">MensLine<\/a>\u00a0Australia on 1300 789 978<\/li>\n<li><a class=\"Link_link__5eL5m ScreenReaderOnly_srLinkHint__OysWz Link_showVisited__C1Fea Link_showFocus__ALyv2\" href=\"https:\/\/www.beyondblue.org.au\/\" data-component=\"Link\" rel=\"nofollow noopener\" target=\"_blank\">BeyondBlue<\/a>\u00a0on 1300 22 46 36<\/li>\n<li>Emergency services on triple-0 if you need immediate care<\/li>\n<\/ul>\n<p class=\"paragraph_paragraph__iYReA\">They had a baby capsule in their car, a baby bath in the bathroom and a nursery decorated in pink.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;I remember years ago somebody saying, &#8216;No one ever prepares you for an empty capsule in the car when your baby dies,'&#8221; Rochelle said.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;When we were in the last day with Milli, I just said, &#8216;Someone needs to go find our car and remove the capsule.&#8217;<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;And so, someone did, and for months I didn&#8217;t even know who had it and I didn&#8217;t care but I just did not want to drive home with an empty car capsule.&#8221;<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Rochelle was 37 at the time and unsure whether she would be able to have any more children.<\/p>\n<blockquote class=\"EmphasisedText_quote__TE6kn\"><p>&#8220;We didn&#8217;t know if she was our one and only,&#8221;<\/p><\/blockquote>\n<p>  the beauty therapist said.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;Things were not on our side fertility-wise.&#8221;<\/p>\n<p><img decoding=\"async\" alt=\"scientist conducting a test in a lab\" class=\"Image_image__5tFYM ContentImage_image__DQ_cq\"  src=\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/07\/0bd18bff7acdc825217bda4ab707be36\" loading=\"lazy\" data-component=\"Image\" data-lazy=\"true\"\/><\/p>\n<p class=\"Typography_base__sj2RP FigureCaption_text__zDxQ5 Typography_sizeMobile12__w_FPC Typography_lineHeightMobile20___U7Vr Typography_regular__WeIG6 Typography_colourInherit__dfnUx\" data-component=\"Typography\">Genetic testing revealed neither Rochelle nor Dylan carried the genetic variant that resulted in Milli&#8217;s condition. (Supplied: ACT Health)<\/p>\n<p>Further testing reveals rare condition<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Before she died, doctors took skin biopsies from Milli for genetic testing.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Months later, the tests revealed she had nemaline rod myopathy, a musculoskeletal disorder that affects about one in 50,000 live births.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Further testing of both Rochelle and Dylan found neither carried the genetic variant that resulted in Milli&#8217;s condition.<\/p>\n<p><a href=\"https:\/\/www.abc.net.au\/news\/2024-03-10\/support-for-dads-coping-with-loss-of-newborn-children\/103269542\" data-component=\"FullBleedLink\" class=\"RelatedCard_link__rsgR9 FullBleedLink_root__lTw_U interactive_focusContext__yRhc_ interactive_defaults__AKxUU FullBleedLink_showVisited__g3Xvz\" rel=\"nofollow noopener\" target=\"_blank\">Support for grieving dads<\/a><\/p>\n<p class=\"Typography_base__sj2RP RelatedCard_synopsis__cFwMW Typography_sizeMobile14__u7TGe Typography_lineHeightMobile20___U7Vr Typography_regular__WeIG6 Typography_colourInherit__dfnUx\" data-component=\"Typography\">Matthew McConnell&#8217;s daughter died when she was just days old. He found himself grieving and lost, but he is stepping up to support other bereaved dads and together they are finding ways to cope.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Queensland Children&#8217;s Hospital clinical geneticist David Coman said her disorder was caused by a mutation in the ACTA1 gene.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Rather than being inherited from her parents, Professor Coman said the genetic variant was known medically as a &#8220;de novo mutation&#8221; \u2014 a gene that spontaneously changed at the point of conception or during early cell division.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;If you can figure why that happens, you&#8217;ll win a Nobel prize for genetics,&#8221; he said.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Milli had what was effectively a small spelling mistake in her DNA with big consequences.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Her muscles were so weak she had to be put on life support soon after her birth.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Professor Coman said her bones were also affected.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;Babies who don&#8217;t move in the womb often have really thin bones,&#8221; he said.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;It&#8217;s kind of like the equivalent of osteoporosis. If you have surgery, and you lie in bed for six weeks, you lose a lot of bone density.&#8221;<\/p>\n<p><img decoding=\"async\" alt=\"a pregnant woman sits on the beach\" class=\"Image_image__5tFYM ContentImage_image__DQ_cq\"  src=\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/07\/158c5a27b00cb23ed1198e25b129ca10\" loading=\"lazy\" data-component=\"Image\" data-lazy=\"true\"\/><\/p>\n<p class=\"Typography_base__sj2RP FigureCaption_text__zDxQ5 Typography_sizeMobile12__w_FPC Typography_lineHeightMobile20___U7Vr Typography_regular__WeIG6 Typography_colourInherit__dfnUx\" data-component=\"Typography\">Rochelle fell pregnant with baby Huey in September last year. (Supplied: Annette Dew)<\/p>\n<p>&#8216;Dignity in diagnosis&#8217;<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Professor Coman said sophisticated genetic sequencing did not always pinpoint a cause of death, but it was important to try.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;In a third of rare presentations, we don&#8217;t get an answer \u2026 so, we do have families that are in limbo,&#8221; he said.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;But for this family, and families where we get an answer, even if it&#8217;s a life-limiting answer, there is still what we call dignity in diagnosis. It gave them information. That&#8217;s really important for the grieving process as well, an understanding of what happened and why.<\/p>\n<blockquote class=\"EmphasisedText_quote__TE6kn\"><p>&#8220;Information is power, too, particularly for reproductive genetics.&#8221;<\/p><\/blockquote>\n<p class=\"paragraph_paragraph__iYReA\">Armed with the knowledge they had not passed the disorder on to their daughter, the Evrards began in vitro fertilisation (IVF) about four months after Milli died.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">After a miscarriage and further endometriosis surgery, Rochelle fell pregnant again in September last year.<\/p>\n<p><img decoding=\"async\" alt=\"collage of a woman holding a baby \" class=\"Image_image__5tFYM ContentImage_image__DQ_cq\"  src=\"https:\/\/www.europesays.com\/us\/wp-content\/uploads\/2025\/07\/1ca8a6834f8232e83abed604111d8619\" loading=\"lazy\" data-component=\"Image\" data-lazy=\"true\"\/><\/p>\n<p class=\"Typography_base__sj2RP FigureCaption_text__zDxQ5 Typography_sizeMobile12__w_FPC Typography_lineHeightMobile20___U7Vr Typography_regular__WeIG6 Typography_colourInherit__dfnUx\" data-component=\"Typography\">Huey Hendrix Evrard was born in May \u2014 his mother says he&#8217;s been &#8220;healing&#8221;. (Supplied: Annette Dew)<\/p>\n<p>Huey born in May<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Huey Hendrix Evrard was born in the Gold Coast Private Hospital on May 2.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Rochelle, who has a tattoo on her right leg in memory of Milli, admits she struggled through Huey&#8217;s pregnancy after losing her firstborn.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;Even though I knew he was healthy, and he didn&#8217;t have Milli&#8217;s condition, I just kept saying: &#8216;What if he dies? What if he just dies?'&#8221; the 39-year-old said.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;I wasn&#8217;t guaranteed that he was going to be here at the end, and it was very stressful.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;At one stage, I was going in three times a week. I was going in very panicked, quite often for reassurance \u2026 just into the maternity ward. I&#8217;d go sit in there for a few hours. They would check his heart rate and his oxygen and just kind of reassure me.&#8221;<\/p>\n<p class=\"paragraph_paragraph__iYReA\">Not even three months into their life with Huey, Rochelle is relishing the constant feeding routine \u2014 even the late-night and early-morning wakeups.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;He sounds like a goat in the middle of the night. He&#8217;s very loud,&#8221; she said with a laugh.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;Last night, we were up probably every 2 hours, but I just love it. You appreciate it a whole lot more when you didn&#8217;t have it last time, you really do.<\/p>\n<p class=\"paragraph_paragraph__iYReA\">&#8220;Huey&#8217;s been very healing \u2014 more than I could have imagined.&#8221;<\/p>\n","protected":false},"excerpt":{"rendered":"Moments after Dylan and Rochelle Evrard were pronounced husband and wife, they were showered with pink confetti. Cyndi&hellip;\n","protected":false},"author":3,"featured_media":96154,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[26],"tags":[63289,63284,630,10934,63288,2892,4446,5564,63280,63281,63279,3736,815,63278,22236,36851,57058,63282,63276,63285,63286,63290,9475,63283,11164,4797,4798,63287,63277,159,67,132,68],"class_list":{"0":"post-96153","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-acta1","9":"tag-ambulance","10":"tag-baby","11":"tag-brisbane","12":"tag-clinical-geneticist-david-coman","13":"tag-cyndi-lauper","14":"tag-death","15":"tag-dna","16":"tag-dylan-evrard","17":"tag-endometriosis","18":"tag-gender-reveal","19":"tag-genetic-testing","20":"tag-genetics","21":"tag-girls-just-want-to-have-fun","22":"tag-gold-coast","23":"tag-grief","24":"tag-mater-mothers-hospital","25":"tag-milli-rose-remidy-evrard","26":"tag-miscarriage","27":"tag-mudgeeraba","28":"tag-nemaline-rod-myopathy","29":"tag-nobel-prize","30":"tag-parents","31":"tag-pindarra-private-hospital","32":"tag-pregnancy","33":"tag-qld","34":"tag-queensland","35":"tag-queensland-childrens-hospital","36":"tag-rochelle-evrard","37":"tag-science","38":"tag-united-states","39":"tag-unitedstates","40":"tag-us"},"share_on_mastodon":{"url":"","error":"Validation failed: Text character limit of 500 exceeded"},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/96153","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=96153"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/posts\/96153\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media\/96154"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/media?parent=96153"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/categories?post=96153"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/us\/wp-json\/wp\/v2\/tags?post=96153"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}