Statement of Principles concerning Gaucher disease (Balance of Probabilities) (No. 38 of 2023)

This instrument is a Statement of Principles (SoP) determined by the Repatriation Medical Authority under subsection 196B(3) of the Veterans' Entitlements Act 1986, concerning Gaucher disease and death from Gaucher disease. It replaces the earlier 2015 Statement of Principles (No. 28 of 2015) and commences on 23 May 2023 (ss 1-4, 2). The authority states its view, on the available medical‑scientific evidence, that it is more probable than not that Gaucher disease and death from Gaucher disease can be related to relevant service as defined in the instrument (s 8).

Mechanically, the instrument does the following things for claims that fall under specified statutory provisions. It declares the medical definition of Gaucher disease for purposes of the SoP (s 7(2)), includes death from Gaucher disease as a compensable end point where the disease contributed to a terminal event or condition (s 7(3)), and specifies the single factor which, if established on the balance of probabilities, will permit a finding that Gaucher disease or death from it is connected with relevant service: inability to obtain appropriate clinical management for Gaucher disease (s 9(1)). The SoP then requires that any factor asserted be related to the person’s relevant service (s 10(1)) and limits the operation of the inability to obtain management factor to cases where the disease was suffered or contracted before or during, but did not arise out of, relevant service, and where that factor materially contributed to or aggravated Gaucher disease (s 10(2)). The instrument applies to claims to which section 120B of the VEA or section 339 of the Military Rehabilitation and Compensation Act 2004 applies (s 5). It also provides cross‑application rules where a factor refers to an injury or disease covered by another SoP (s 11).

In short, for veterans or members with Gaucher disease, the SoP provides a narrow, factor‑based path to establish service connection through documented inability to obtain appropriate clinical management that is related to the relevant service period and that materially contributed to or aggravated the disease. The instrument does not itself set out benefit amounts, adjudication procedures, or enforcement penalties; it operates as a medical‑causation instrument to be applied in claims under the named statutory provisions (ss 3, 5, 8).

The SoP deploys a short set of core concepts that determine both scope and causal mechanism. Central concepts are: the medical meaning of Gaucher disease, the inclusion of death from Gaucher disease, the single causation factor accepted by the Authority, the requirement that any factor be related to relevant service, and the limited circumstances in which the factor operates.

Definition of the disease is explicit. Gaucher disease is defined as a genetic disorder of sphingolipid metabolism involving deficiency of glucocerebrosidase, leading to accumulation of glucocerebroside and other glycolipids in macrophages in various organs (s 7(2)). The instrument expressly records typical sites of accumulation and clinical manifestations (Notes to s 7(2)). Death from Gaucher disease is included where the disease contributed to the terminal event or condition; terminal event is defined exhaustively in the Schedule and includes pneumonia, respiratory failure, cardiac arrest, circulatory failure and cessation of brain function (s 7(3); Schedule 1).

Causation is approached by the Repatriation Medical Authority through enumerated factors rather than a free‑form proximate cause test. The only factor that the Authority has determined is sufficient, when established on the balance of probabilities and connected to relevant service, is inability to obtain appropriate clinical management for Gaucher disease (s 9(1)). The instrument then requires a relationship between that factor and the person’s relevant service (s 10(1)). There is an importantly specific limiting qualification: the inability to obtain appropriate clinical management factor applies only to material contribution to, or aggravation of, Gaucher disease where the person’s disease was suffered or contracted before or during, but did not arise out of, their relevant service (s 10(2)). That is, the factor is not stated to support a finding where Gaucher disease first arose out of service.

Relevant service is itself a defined legal term in the Schedule 1 Dictionary. For this SoP, relevant service means eligible war service (other than operational service) under the VEA, defence service (other than hazardous service and British nuclear test defence service) under the VEA, or peacetime service under the MRCA (Schedule 1). The definition therefore narrows the class of service that can found a connection under this SoP. The instrument also provides for cross‑application: if the factor refers to an injury or disease that has its own SoP, that other SoP applies according to its terms (s 11).

Finally, at a procedural level, the instrument is an administrative medical determination issued under statute. The Authority states its view on the medical evidence and establishes the specified factor framework to be used when applying section 120B VEA or section 339 MRCA (s 8; s 5). It does not itself set out adjudicative or evidentiary rules beyond these medical causation elements, nor does it list penalties for non‑compliance.

The SoP affects claimants, decision makers, and the administration of claims under the two statutory checkpoints it names. It applies to claims to which section 120B of the Veterans’ Entitlements Act 1986 or section 339 of the Military Rehabilitation and Compensation Act 2004 applies (s 5). The Schedule specifies what constitutes relevant service for this instrument: eligible war service (other than operational service) under the VEA, defence service (other than hazardous service and British nuclear test defence service) under the VEA, and peacetime service under the MRCA (Schedule 1). Therefore the instrument does not apply to all categories of military service indiscriminately, and it excludes those service types specifically carved out in the definition.

For claimants, the SoP is directly relevant if they have Gaucher disease as defined in s 7(2) or died from Gaucher disease as described in s 7(3), and their claim is made under the specified provisions of the VEA or the MRCA. The SoP emphasises a particular route to service connection: establishment, on the balance of probabilities, of inability to obtain appropriate clinical management for Gaucher disease that is related to the person’s relevant service and that materially contributed to or aggravated the disease where the disease was present before or during service (ss 9(1), 10(1)-(2)). That places an evidentiary and strategic burden on claimants to frame their claim to show both the medical condition and the specific factor, and a causal nexus to the relevant service period.

Decision makers who assess entitlement under the statutory provisions named will use this SoP as the medical‑causation benchmark for Gaucher disease claims. The Authority determined the SoP under its statutory power (s 3). The instrument contains cross‑references to other Statements of Principles where a factor invokes an injury or disease covered by another SoP; in such cases the other SoP applies in accordance with its terms (s 11). This creates an administrative interaction for decision makers who must consult multiple SoPs where overlap exists.

Medical practitioners and experts will be affected in practice because the SoP frames the medical question to be answered in claim files. The SoP’s definition of Gaucher disease and the terminal events listed in the Schedule set the diagnostic and mortality parameters used for claim assessment (s 7; Schedule 1). Finally, the instrument affects records management and evidence collection for claims, because the operative factor is an inability to obtain appropriate clinical management. That factor will typically require documentary support from medical and service records showing attempts to obtain care, availability or lack of appropriate treatment, and links to service timelines. The instrument does not itself prescribe the forms of admissible proof, but the required factual elements narrow the types of evidence needed.

The Statement of Principles creates no freestanding statutory duties or criminal offences. Instead it sets the medical criteria that must be satisfied in order for a claimant, on the balance of probabilities, to establish that Gaucher disease or death from Gaucher disease is connected with relevant service for the purposes of specified provisions of the VEA and MRCA. The principal operational duty created by the instrument is on decision makers to apply these principles when deciding relevant claims, because the instrument exists under the Authority’s statutory power (s 3) and is expressly applicable to claims under s 120B VEA and s 339 MRCA (s 5).

For claimants, the SoP establishes an evidential right: if they can establish at least one of the named factors and the necessary relation to relevant service, they satisfy the causal test in this instrument on the balance of probabilities (s 9(1) and s 10(1)). Practically, that means a claimant has the right to seek a finding of service connection by proving inability to obtain appropriate clinical management that is related to their relevant service and which materially contributed to or aggravated their Gaucher disease where the disease was present before or during service but did not arise out of it (s 10(2)). The SoP also establishes the right for claimants to rely on other SoPs where a factor refers to an injury or disease covered by another Statement; those other SoPs apply according to their terms (s 11).

Decision makers have the correlative duty to recognise the Authority’s medical view that Gaucher disease can be related to relevant service on the available evidence (s 8), and to apply the single enumerated factor when adjudicating claims that raise Gaucher disease causation issues. They must also observe the defined scope of relevant service in the Schedule 1 Dictionary, because that definition confines the classes of service that can found a connection under this SoP (Schedule 1).

The instrument does not impose procedural duties on claimants such as mandatory forms or timelines; those procedural regimes are governed by the VEA, MRCA and their implementing regulations, not by this SoP. Likewise, the instrument does not prescribe rights to particular benefits or amounts; it simply establishes the medical causation framework which, if satisfied, will be applied under the statutory provisions to which the instrument refers (s 5). There are no penalty clauses or enforcement mechanisms within this SoP itself; enforcement of entitlement outcomes occurs through the administrative and review processes in the underlying statutes.

This Statement of Principles does not create penalties, sanctions or direct enforcement powers within its text. It is a medical determination made under subsection 196B(3) of the Veterans’ Entitlements Act 1986 (s 3) and functions as a declaratory instrument setting out the medical factors which, if established, permit a finding that Gaucher disease or death from Gaucher disease is connected with relevant service. The instrument does not provide any criminal, civil or administrative penalties for non‑compliance with its stated factors.

Enforcement in practice occurs indirectly through the adjudicative and review mechanisms embedded in the statutes to which the SoP applies. The SoP explicitly applies to claims to which section 120B of the VEA or section 339 of the MRCA applies (s 5). Those sections and the Acts in which they sit contain their own procedural, decision‑making and review regimes, including internal review and merits review or judicial review pathways, which are the operational routes for enforcing or challenging decisions that apply the SoP. The instrument itself does not prescribe those routes, nor does it extend, limit or vary the statutory review mechanisms; it supplies the medical causation rubric to be used within them.

Because the SoP is a determinative medical standard, non‑compliance with it in a claims decision could be raised in a review or appeal under the VEA or MRCA processes. The SoP will therefore be used by decision makers as the medical benchmark for causation, and errors in applying the SoP may be grounds for administrative or legal challenge through the underlying Acts’ review pathways. The instrument makes provision for cross‑application where a factor refers to an injury or disease covered by another Statement of Principles; in such cases the other SoP applies according to its terms (s 11), and misapplication of those cross‑references could likewise be challenged in statutory review processes.

In short, the Statement does not itself impose penalties or set out an enforcement regime. Its force is that of an administratively determinative medical standard to be applied within existing statutory claim and review frameworks under the VEA and MRCA (s 5).

The instrument is expressly made under subsection 196B(3) of the Veterans’ Entitlements Act 1986 (s 3) and is framed to be applied within the statutory architecture of the VEA and the Military Rehabilitation and Compensation Act 2004. It applies to claims to which section 120B of the VEA or section 339 of the MRCA applies (s 5). Therefore application of the SoP is contingent on and subordinate to the procedural and substantive rules contained in those primary statutes. The SoP does not alter those statutes. It provides a medical causation test to be used when adjudicating claims under those sections.

The Schedule 1 Dictionary links statutory meanings. It defines relevant service in terms of categories under the VEA and MRCA: eligible war service other than operational service, defence service other than hazardous service and British nuclear test defence service, and peacetime service under the MRCA (Schedule 1). That definition therefore narrows the coverage of the SoP within the broader statutory entitlements. If a claimant’s service falls within categories excluded by the Schedule definition, this SoP will not be the correct medical instrument for determining causation.

The SoP expressly contemplates inter‑SoP interaction. If a factor referred to in this SoP applies in relation to a person and that factor refers to an injury or disease for which another Statement of Principles exists under subsection 196B(3) of the VEA, then the factors in that other Statement apply according to its terms as in force from time to time (s 11). This creates a legal interaction where decision makers must consult and apply multiple SoPs where relevant. In practice this means that the medical causation test for Gaucher disease may be supplemented or qualified by the content of other SoPs if factors overlap.

The instrument repeals the previous Statement of Principles concerning Gaucher disease No. 28 of 2015 (s 4). That repeal is an internal administrative amendment to the set of applicable SoPs under the Authority’s power. Any claims or decisions made after commencement are to be assessed against the new SoP. The instrument does not specify transitional rules or savings provisions; therefore application in ongoing matters will follow the normal interpretive approach under the VEA and MRCA and any administrative practice established by the decision makers responsible for claims.

The SoP does not itself modify criminal law, workers compensation, public health law or other benefit schemes beyond its operation within the VEA and MRCA claims environment. Where other legal regimes might be engaged, their application would proceed independently, with this SoP being relevant only to entitlement determinations under the statutory provisions it names.

The instrument establishes its own place in the sequence of Statements of Principles concerning Gaucher disease by explicitly repealing the earlier instrument. The text records that the Statement of Principles concerning Gaucher's disease No. 28 of 2015 (Federal Register of Legislation No. F2014L01846) made under subsection 196B(3) of the VEA is repealed (s 4). The present instrument is identified as No. 38 of 2023 in the Repatriation Medical Authority’s numbering and is dated 24 April 2023 on its face. It commences on 23 May 2023 (s 2). The instrument’s statutory authority is subsection 196B(3) of the VEA, which is recorded in s 3.

No other amendments, schedules, or modification clauses are included in the instrument itself. The document contains a Schedule 1 Dictionary, which supplies operative definitions used in the text, including the definitions of Gaucher disease, MRCA, relevant service and terminal event. Where the instrument refers to other Statements of Principles, it contemplates that those other instruments may change over time and expressly states that factors in those Statements apply in accordance with their terms as in force from time to time (s 11). That language preserves the Authority’s procedural posture that other SoPs remain separately amendable and will be applied as currently in force.

Because the instrument is a stand‑alone SoP replacing the 2015 instrument, the amendment history relevant to Gaucher disease SoPs is effectively a two‑step timeline recorded within the instrument: the 2015 instrument and its repeal by this 2023 instrument (s 4). The instrument itself does not record any earlier versions or amendment trajectory beyond that explicit repeal. It also does not specify transitional rules for matters in progress at commencement, which means that practitioners will need to consider the position in the underlying statutory and administrative frameworks for any transitional practice or guidance issued by the claim‑processing agencies.

The instrument itself does not record any litigation or judicial interpretation of its terms. It is a statutory administrative instrument produced by the Repatriation Medical Authority under subsection 196B(3) of the Veterans’ Entitlements Act 1986 (s 3) and contains no case law citations. The text provides no history of litigation, reviews, judicial challenges, or determinations concerning its predecessor instruments.

Because this SoP functions as a medical causation tool to be applied within claims under sections of the VEA and the MRCA (s 5), any litigation history relevant to its operation will arise in the statutory review and appeal pathways available under those Acts. The instrument does not itself establish or limit review rights; those are governed by the primary legislation. Therefore the absence of litigation history in the instrument simply means that readers must consult administrative decision records, tribunal or court databases, and the underlying Acts for any jurisprudence testing or interpreting the application of this SoP in specific claims.

Practitioners intending to rely on or challenge decisions that apply this SoP should therefore search the administrative and judicial records under the VEA and MRCA regimes for cases where Gaucher disease causation was in issue. The instrument does not supply guidance on the typical grounds of challenge that have been litigated, nor does it indicate whether the Authority’s statement that it is more probable than not that Gaucher disease can be related to relevant service has been tested in litigation. The absence of litigation references in the instrument is itself a fact to note for practitioners preparing claims or reviews: they must develop evidential and legal arguments without supplied case precedents in the instrument text.

There are several concrete traps and restricted pathways embedded in the wording of the SoP that practitioners must note, because they materially affect who can succeed on a claim and how evidence must be framed.

First, the SoP contains only a single causation factor: inability to obtain appropriate clinical management for Gaucher disease (s 9(1)). If a claimant’s case rests on a different factual pathway, for example that service produced Gaucher disease de novo or that some other service exposure caused the genetic disorder to appear, this SoP does not provide a direct causal route unless that alternative pathway is covered by another SoP referenced under s 11. Practitioners should therefore not assume multiple or broad causal routes are accepted by the Authority for Gaucher disease beyond the inability‑to‑obtain‑management factor.

Second, the operation of the factor is explicitly constrained by timing and causal language. The inability to obtain management factor only applies to material contribution to, or aggravation of, Gaucher disease where the disease was suffered or contracted before or during, but did not arise out of, relevant service (s 10(2)). That means two concrete consequences. One, if the disease first arose out of (i.e. arose because of) the relevant service, this factor does not apply. Two, the claimant must show that the inability to obtain appropriate clinical management actually materially contributed to or aggravated the disease, not merely that management was suboptimal. The SoP’s phrasing requires a showing of material contribution or aggravation; practitioners should ensure evidence addresses that standard.

Third, the definition of relevant service narrows the pool of qualifying service. The Schedule limits relevant service to eligible war service excluding operational service, defence service excluding hazardous service and British nuclear test defence service, and peacetime service under the MRCA (Schedule 1). If a claimant’s service is operational, hazardous, or British nuclear test defence service, the SoP’s definition excludes that service from its scope. That is an often‑overlooked scope limiter because it turns on statutory categories rather than lay descriptions of service.

Fourth, the SoP defines Gaucher disease as a genetic disorder involving enzyme deficiency (s 7(2)). This medical definition alters the causal landscape because genetically determined conditions typically raise different causal questions than purely environmental diseases. The Authority nevertheless records that it is more probable than not that Gaucher disease can be related to relevant service on available evidence (s 8). Practitioners must therefore square the genetic nature of the disorder with the inability‑to‑obtain‑management factor. In practice that means focusing evidence on how lack of appropriate management in the relevant service period materially changed clinical trajectory or aggravated manifestations.

To build a compliant claim under this SoP, practitioners should map evidence to the narrow elements the instrument sets out. The SoP requires, on the balance of probabilities, establishment of at least one of the factors in s 9 and a link of that factor to relevant service (ss 9(1), 10(1)). For Gaucher disease, the only enumerated factor is inability to obtain appropriate clinical management for Gaucher disease (s 9(1)). The relationship requirement in s 10(1) and the timing and causation limiter in s 10(2) further require the claimant to show that the inability to obtain appropriate clinical management was related to their relevant service and that this factor materially contributed to or aggravated Gaucher disease where the disease was suffered or contracted before or during, but did not arise out of, service.

Practically, a compliant evidentiary approach should include the following documentary and expert elements aligned to those statutory requirements. First, establish the diagnosis of Gaucher disease in line with the SoP’s definition in s 7(2). Medical records and diagnostic test results that document enzyme deficiency, genotype where available, and clinical manifestations such as splenomegaly, hepatomegaly, thrombocytopaenia or anaemia will map to the definition in the instrument. If the claim concerns death, ensure medical records and a death certificate or autopsy material show that Gaucher disease contributed to the terminal event as defined in the Schedule (s 7(3) and Schedule 1).

Second, establish relevant service as defined in the Schedule 1 Dictionary. Obtain service records that show the claimant’s category of service and match it against the SoP’s definition: eligible war service excluding operational service, defence service excluding hazardous and British nuclear test defence service, or peacetime service under the MRCA (Schedule 1). If service falls outside those categories, the SoP will not apply.

Third, address the specific factor: inability to obtain appropriate clinical management. Compile contemporaneous service medical records, personnel records, clinic logs, correspondence, and any records of referrals or denials of care that demonstrate the claimant was unable to obtain the care that would be regarded as appropriate for Gaucher disease management. While the SoP does not define “appropriate clinical management” in detail, evidence should be framed to show what treatment or management was clinically indicated at the time and that it was not provided or obtainable during the relevant service period. This will likely require contemporaneous documentation of attempts to obtain care, reasons for non‑provision, and any systemic barriers tied to the service environment.