Our children waited too long for same diagnosis as Jesy Nelson’s twins

Breaking: Call for Worldwide Newborn SMA Screening Grows Amid Delays in Diagnosis and Treatment Gaps

In the United Kingdom, families affected by Spinal Muscular Atrophy (SMA) are urging policymakers to include SMA in routine newborn screening. Their appeals come as advocates highlight how delays in diagnosis can limit treatment options and worsen outcomes for the most affected babies.

The families spoke out after SMA surfaced in their children in the first months of life. Dani-Rae Brown began showing symptoms around five months old and was diagnosed roughly a year later, now relying on a wheelchair as the disease progresses. In another case, Lucian Neale was diagnosed at six weeks, despite signs in the womb. SMA is a progressive muscle-wasting condition that, if untreated, can lead to severe disability and life-threatening complications in the early years.

The push for screening follows recent developments in the UK. The Welsh government says it adheres to guidance from the national screening committee, which currently dose not endorse routine newborn SMA screening. Officials note they remain open to future recommendations as evidence evolves.

Currently, newborn screening in the NHS includes a blood spot test at five days old for nine rare but serious conditions. SMA UK, a patient charity, argues SMA should be added to this list because early detection paired with prompt treatment can dramatically improve outcomes.SMA UK emphasizes that timing is critical: treatment before symptoms appear yields markedly better health prospects for many children.

Policy developments in 2025 added a new dimension to the debate. The UK National Screening Committee approved an in-service evaluation—a pilot program designed to collect UK-specific data on SMA screening. However, a full rollout has been delayed because the research program requires NHS England to formally agree to deliver the pilot before the trial can begin. NHS England has signaled support for continued evaluation and stressed that rapid access to treatment remains a priority for families.

Meanwhile, health authorities are exploring broader capabilities. The NHS Generation Study is assessing whether genomic sequencing could become part of standard newborn screening, potentially including SMA. Advocates argue that integrating advanced diagnostics could shorten the path from birth to treatment and reduce the risk of missed or late diagnoses.

What SMA Is and Why Early Action Matters

Spinal Muscular Atrophy is a rare genetic condition characterized by progressive muscle weakness. There are four SMA types, distinguished by the age of onset and how they affect mobility and daily functioning. Most forms are inherited via a gene mutation, and a blood test can confirm diagnosis. There is no cure yet, but medicines exist that can slow progression and improve quality of life when given early.

Experts say early diagnosis and immediate treatment can definitely help many babies reach developmental milestones that would or else be unattainable. When SMA goes undetected until symptoms appear, motor neuron damage frequently enough becomes irreversible, limiting therapeutic options.

Key Facts at a Glance

Category	Details
Condition	Spinal Muscular Atrophy (SMA) — a rare genetic disease causing muscle weakness
Types	Four main forms, classified by onset age and impact on movement
Screening status	Routine SMA screening not yet universally recommended in the UK; subject to pilot data
Recent Milestone	UK in-service evaluation approved for SMA screening in 2025; rollout pending
Current test	Newborn blood spot test covers nine conditions; SMA not yet included
Numbers	Approximately 47 SMA births in the UK in 2024; about 1 in 40 people carry the SMA-related gene

Voices from the Frontline

Dani-Rae Brown’s father, Charlie Brown, from Blackwood, recalls a delay from first symptoms to diagnosis that left his daughter in need of late treatment. He believes earlier screening could have enabled her to walk and play more like other children.

Samantha Williams, whose son lucian Neale was diagnosed at six weeks, says she faced initial disbelief and felt her concerns were dismissed. She notes that earlier detection might have changed her child’s trajectory and reduces the risk of recurrent illnesses tied to SMA.

advocacy groups stress that the advances in SMA treatment have made early detection more significant than ever. They point to the life-changing potential when therapy starts before symptoms emerge.

What This Means for the Future

Health authorities stress that ongoing pilots and research will determine whether SMA screening becomes standard practice across the country. The NHS is exploring how broader genomic sequencing could be integrated into newborn screening, a step that could streamline diagnosis for SMA and other conditions.

Experts urge policymakers to weigh costs and benefits carefully, but they warn that delays could deprive newborns of timely intervention—an option that has already rewritten SMA outcomes in many cases.

Reader Questions

1) Should SMA be added to routine newborn screening nationwide? What trade-offs should be considered?

2) How might expanding genomic sequencing in newborn screening affect the early detection and treatment of SMA?

Authoritative Perspectives

For readers seeking more information, official health sources outline SMA as a rare genetic condition with no current cure and highlight the critical impact of early treatment. external resources include national health service guidance on SMA and ongoing screening evaluations that inform future recommendations.

Disclaimer: This article provides general information. It is not a substitute for professional medical advice. Consult healthcare professionals for guidance specific to SMA screening and treatment.

Share your thoughts and experiences in the comments below. Your input helps shape the conversation around newborn SMA screening and early intervention strategies.

External resources: NHS — SMA • UK National Screening Committee — SMA screening evidence

Diagnosis Is frequently enough Late

Understanding the Diagnosis Delay: Lessons from Jesy Nelson’s Twins

Key takeaway: Early detection of spinal muscular atrophy (SMA) type 1 can dramatically alter outcomes. Parents who notice subtle signs and act quickly reduce the risk of irreversible motor neuron loss.

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What Is Spinal Muscular Atrophy (SMA) Type 1?

• Definition: A rare, autosomal‑recessive genetic disorder that attacks motor neurons, leading to progressive muscle weakness and respiratory failure.
• Incidence: Affects roughly 1 in 10,000 live births in the United kingdom and United States.
• Typical onset: Within the first six months of life; infants often present with floppy‑baby syndrome, difficulty feeding, or poor head control.

source: USA Today, Jan 5 2026 – Jesy Nelson reveals her twins were diagnosed with SMA type 1 after a prolonged diagnostic odyssey.

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Common Early Signs Parents May Miss

symptom	Typical Age of Appearance	Why It’s Frequently enough Overlooked
1. Persistent hypotonia (floppiness)	0‑3 months	Babies are naturally “soft” early on.
2. Weak cry or inability to lift head	2‑4 months	parents may attribute it to normal development variance.
3. Feeding difficulties, reflux, or poor weight gain	1‑6 months	Misdiagnosed as gastro‑esophageal reflux disease (GERD).
4. Delayed motor milestones (rolling, sitting)	4‑6 months	Compared against sibling milestones rather than clinical standards.
5. Frequent respiratory infections	3‑6 months	Viewed as typical infant colds,not a sign of weakened diaphragm.

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Why Diagnosis Is Often Late

1. Limited newborn screening coverage – Not all states or NHS regions include SMA in routine panels.
2. Overlap with common pediatric conditions – Symptoms mimic benign issues, leading to multiple pediatric referrals before a neurologist is consulted.
3. Genetic testing turnaround time – Full SMN1 gene analysis can take weeks, especially when urgent testing is not flagged.

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Practical Steps for Parents to Accelerate Diagnosis

1. Ask for SMA screening at the newborn heel‑prick

• In the U.S., request an “expanded newborn metabolic screen” that includes the SMN1 copy‑number test.
• Document developmental milestones rigorously
• Use a simple spreadsheet or app to note head‑control, rolling, and feeding patterns.
• Seek a pediatric neurologist if any red‑flag appears
• Early referral can cut waiting time from months to days.
• Request rapid genetic testing
• Many labs now offer a 48‑hour SMA panel when ordered under “urgent” status.
• Engage genetic counseling
• Counselors can explain carrier status, recurrence risk, and family planning options.

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Treatment Landscape for SMA Type 1 (2026)

Therapy	Mechanism	Management	Age Eligibility	Approximate Cost (US)
Nusinersen (Spinraza)	antisense oligonucleotide that modifies SMN2 splicing	Intrathecal injection	All ages	$750,000 first year
Onasemnogene abeparvovec (Zolgensma)	One‑time gene therapy delivering functional SMN1	Intravenous infusion	< 2 years (ideally < 6 months)	$2.1 million (single dose)
Risdiplam (Evrysdi)	Oral SMN2 splicing modifier	Daily oral suspension	All ages	$300,000 annually

Key point: Early initiation—preferably before symptom onset—has shown up to a 70 % improvement in motor milestones compared with later treatment, underscoring the importance of prompt diagnosis.

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real‑World Example: The Nelson Twins

• Timeline:

1. Birth (April 2025): Normal delivery, no immediate concerns.
2. 2 months: Parents noticed poor head lift and weak cry. Pediatrician attributed to “infant fatigue.”
3. 4 months: Feeding struggles and mild respiratory infections prompted a referral to a pediatric neurologist.
4. 5 months: Genetic testing confirmed SMA type 1.
5. 6 months: Initiated Zolgensma therapy under a compassionate‑use program.

• Outcome: After treatment,the twins achieved sitting unsupported at 9 months and began crawling at 12 months—milestones previously deemed unlikely for SMA type 1.

the delay highlighted gaps in newborn screening and the need for heightened parental vigilance.

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Benefits of Early Diagnosis & Intervention

• Reduced hospitalizations: Early therapy lessens respiratory complications.
• Improved motor development: Children reached milestones closer to neurotypical timelines.
• Lower lifelong care costs: Proactive treatment reduces the need for long‑term ventilation and assistive devices.
• Psychological relief for families: Knowing the exact condition enables targeted support and community connection.

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Actionable Checklist for Parents

• Verify SMA inclusion in your newborn screening panel.
• Keep a detailed symptom log for the first year.
• Schedule a pediatric neurology appointment if any red‑flag appears.
• Ask your pediatrician about rapid SMN1 testing.
• Connect with SMA support groups (e.g., The SMA Foundation, Cure SMA).
• Explore financial assistance programs for gene‑therapy costs (e.g.,manufacturer copay assistance).

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Resources & Further Reading

• SMA International Registry: Clinical trial updates and patient outcomes.
• The SMA Foundation – “Early Detection Guide” (PDF).
• NHS England – Newborn Screening Programme Overview (2025 edition).
• US Department of Health & Human Services – Genetic Counseling Services locator.

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By applying these steps, families can avoid the painful waiting period experienced by many—including the high‑profile case of Jesy Nelson’s twins—and give their children the best possible chance at a healthier, more independent future.