Autosomal dominant nonsyndromic deafness 52 is a genetic condition that mainly causes hearing loss without other health problems. Hearing changes often begin in childhood or early adulthood and can slowly get worse over time. Many people with Autosomal dominant nonsyndromic deafness 52 notice trouble hearing high-pitched sounds or understanding speech in noise. Life expectancy is typically normal, and daily health outside hearing is usually unaffected. Treatment often includes hearing aids, assistive listening devices, and sometimes cochlear implants, along with regular hearing checks and communication support.
Overview
Autosomal dominant nonsyndromic deafness 52Symptoms
Autosomal dominant nonsyndromic deafness 52 causes bilateral sensorineural hearing loss with no other features. Early signs include difficulty hearing high-pitched sounds and speech in noise, sometimes tinnitus. Onset varies from childhood to adulthood and the hearing loss often progresses.
Outlook and prognosis
Many living with Autosomal dominant nonsyndromic deafness 52 (DFNA52) have stable or slowly progressive hearing loss, often starting in adolescence or adulthood. With timely hearing support—hearing aids, assistive tech, or implants—communication, work, and social life usually remain active. Regular hearing checks help adjust care as needs change.
Causes and risk factors
Autosomal dominant nonsyndromic deafness 52 results from a single-gene mutation passed in an autosomal-dominant pattern; many inherit it, some arise spontaneously. Family history is key risk. Noise exposure, ototoxic medications, and repeated ear infections may hasten onset or worsen severity.
Genetic influences
Genetics plays a central role in Autosomal dominant nonsyndromic deafness 52. Single-gene variants, often in TECTA, ACTG1, or KCNQ4, can disrupt inner-ear function. Inheritance is autosomal dominant, so each child has a 50% chance of inheriting the variant.
Diagnosis
Doctors suspect it from clinical features: bilateral sensorineural hearing loss, family history, and audiometry patterns. Genetic tests confirm the genetic diagnosis of Autosomal dominant nonsyndromic deafness 52; imaging may help exclude other causes.
Treatment and drugs
Treatment for autosomal dominant nonsyndromic deafness 52 focuses on better hearing and communication. Options often include hearing aids, remote microphones, customized listening therapy, and—in suitable cases—cochlear implants, plus classroom or workplace accommodations. Regular hearing checks guide device adjustments and family counseling.
Symptoms
Conversations can start to sound less crisp, especially in busy rooms or with higher-pitched voices. Over time, many people with Autosomal dominant nonsyndromic deafness 52 notice hearing changes without other health issues. Features vary from person to person and can change over time. Many ask about early features of Autosomal dominant nonsyndromic deafness 52; these often include needing the TV louder or asking others to repeat.
Hearing often changes slowly over years and usually affects both ears. Clarity drops more than overall loudness, so words can sound muffled. Higher tones tend to be harder to catch.
Conversations in restaurants or on busy streets become hard to follow. Voices can blur together even when the volume seems fine. Asking for repeats may become more common after a long day.
Birdsong, microwave beeps, and consonants like s, f, and t are easier to miss. Children’s or higher female voices can be harder to understand from across the room. People may turn up the treble on devices to compensate.
Some notice ringing, buzzing, or hissing in one or both ears. It can be more noticeable in quiet rooms or at night. For some, stress makes it feel louder.
How people usually first notice Autosomal dominant nonsyndromic deafness 52?
Many families first notice autosomal dominant nonsyndromic deafness 52 when a baby doesn’t startle to sudden sounds, doesn’t turn toward voices, or is slow to babble compared with other infants. Newborn hearing screening often picks it up early, and in some families there’s a clear pattern of hearing loss across generations that prompts testing. For others, the first signs of autosomal dominant nonsyndromic deafness 52 appear in childhood or the teen years as gradual trouble hearing soft speech, classroom instructions, or high-pitched sounds.
Types of Autosomal dominant nonsyndromic deafness 52
Autosomal dominant nonsyndromic deafness 52 (often shortened to DFNA52) is a genetic form of hearing loss that runs in families and mainly affects hearing without other health issues. Variants of this condition are defined by the specific gene change and family lineage rather than by clear-cut clinical subtypes. People may notice different sets of symptoms depending on their situation. In practice, DFNA52 presents as a spectrum of hearing patterns that can differ in the age hearing loss starts, which pitches are affected first, and how quickly it progresses.
No distinct subtypes
There are no widely accepted clinical variants of DFNA52 beyond family-specific mutations. The types of Autosomal dominant nonsyndromic deafness 52 are best described by the exact genetic change in a given family rather than named subtypes.
What genetics can tell you about symptoms
Some people with autosomal dominant nonsyndromic deafness 52 have changes in the TECTA gene that make the inner ear’s tectorial membrane less stable, leading to slowly progressive hearing loss. Certain variants affect high-pitch sounds first, while others mainly reduce middle or low-frequency hearing.
Causes and risk factors
In Autosomal dominant nonsyndromic deafness 52, the main cause is a single gene change that weakens inner ear hair cell function. This change is usually inherited from a parent, but it can also appear as a new change. Some risks are modifiable (things you can change), others are non-modifiable (things you can’t). Key risk factors for Autosomal dominant nonsyndromic deafness 52 that you cannot change include a strong family history and older age. Modifiable risks include loud noise at work or concerts, head injury, and certain antibiotics or chemotherapy drugs that can harm the inner ear.
Environmental and biological risk factors
For autosomal dominant nonsyndromic deafness 52, the main risk factors relate to events before conception that can raise the chance of a new change arising. This section focuses on environmental and biological risk factors for Autosomal dominant nonsyndromic deafness 52, not day-to-day habits. Doctors often group risks into internal (biological) and external (environmental). Evidence is strongest for parental age and high-dose exposures; routine everyday exposures have not been shown to cause this specific condition.
As men get older, new changes in sperm cells become more likely. This slightly raises the chance of a child being the first in a family with this condition.
Age-related changes in egg cells can slightly increase the chance of a new change occurring before pregnancy starts. The effect for single-gene conditions is generally smaller than for chromosomal conditions.
Exposure to high levels of ionizing radiation before conception can increase new changes in eggs or sperm. This is mainly a concern after radiation therapy or disaster-level exposures, not routine medical imaging.
Certain chemotherapy medicines and pelvic radiation can damage eggs or sperm and may raise the chance of new changes. Doctors often advise a waiting period before trying to conceive after these treatments to lower risk.
Genetic risk factors
In many families, a single inherited gene change drives this pattern of hearing loss. Autosomal dominant nonsyndromic deafness 52 usually follows an autosomal dominant pattern, meaning one altered copy of the gene can be enough to cause problems. Carrying a genetic change doesn’t guarantee the condition will appear. Questions about early symptoms of Autosomal dominant nonsyndromic deafness 52 often prompt families to ask about genetic testing and whether relatives could be affected.
Autosomal dominance: Each child of an affected parent has a 50% chance to inherit the gene change. The chance is the same for all sexes.
Single-gene variant: Most cases of Autosomal dominant nonsyndromic deafness 52 arise from a change in one inner-ear gene associated with this diagnosis. The change disrupts how sound-sensing cells function.
Family history clues: A pattern of Autosomal dominant nonsyndromic deafness 52 across generations on one side of the family suggests a shared gene change. Similar ages of onset among relatives can be another sign.
De novo variant: Sometimes the change occurs for the first time in a child, with no prior family history. In that case, parents may test negative even though the child is affected.
Variable expressivity: The same gene change can lead to different ages of onset and severity within one family. People with the same risk factor can have very different experiences.
Age-dependent penetrance: In Autosomal dominant nonsyndromic deafness 52, some carriers develop hearing loss later in adolescence or adulthood. A relative could carry the change for years before any hearing difficulty appears.
Parental mosaicism: A parent with typical hearing can carry the change in a small fraction of their egg or sperm cells. This rare situation can raise the recurrence risk for siblings.
Genetic modifiers: Other gene differences can nudge timing or severity up or down. This helps explain why outcomes differ even in relatives who share the same variant.
Lifestyle risk factors
Autosomal dominant nonsyndromic deafness 52 is genetic; lifestyle habits do not cause it, but they can influence how much hearing you retain, how fast changes occur, and how well you communicate. Understanding how lifestyle affects Autosomal dominant nonsyndromic deafness 52 helps you protect residual hearing and get more from hearing technology. Below are practical lifestyle risk factors for Autosomal dominant nonsyndromic deafness 52 that you can modify.
Regular time at concerts, clubs, or with power tools can add noise damage on top of genetic hearing loss. Using protection and limiting time in loud settings may slow further threshold decline.
High-volume earbuds or headphones can trigger additional threshold shifts and tinnitus. Keeping volume moderate (about 60/60 rule) and using noise-cancelling to avoid turning it up may preserve residual hearing.
Well-fitted earplugs or earmuffs reduce cumulative noise dose in loud environments. This can help maintain speech clarity and delay the need for stronger amplification.
Nicotine and smoke reduce inner-ear blood flow and increase oxidative stress, which can hasten progression. Quitting may stabilize thresholds and improve day-to-day hearing function.
Risk prevention
You can’t change the inherited gene change in autosomal dominant nonsyndromic deafness 52, but you can lower the chance of extra hearing damage and spot changes early. Prevention works best when combined with regular check-ups. Practical steps focus on protecting your ears, avoiding things that can harm hearing, managing infections, and planning ahead for family risks. These habits help many living with this condition stay connected at work, school, and in daily life.
Keep volume down and use well-fitted earplugs or earmuffs during concerts, power tools, or loud work. Take sound breaks to let your ears recover after noisy activities.
Some antibiotics and chemotherapy drugs can damage hearing, especially in people with this condition. Always tell every clinician you see about your hearing history and ask if safer options exist.
Get a baseline hearing test and repeat it regularly to track any change. Many aim for every 6–12 months, or sooner if you notice new symptoms like ringing or muffled sounds.
Knowing the early symptoms of autosomal dominant nonsyndromic deafness 52—like difficulty hearing high-pitched voices or needing the TV louder—can prompt quicker protection. Early action can reduce strain and guide timely hearing support.
Transmission
Autosomal dominant nonsyndromic deafness 52 is inherited, not contagious, so it cannot be caught or spread through everyday contact. The genetic transmission of Autosomal dominant nonsyndromic deafness 52 follows an autosomal dominant pattern: if a parent carries the gene change, each child has a 50% (1 in 2) chance of inheriting it, regardless of sex. In some families, the change happens for the first time in a child (a new mutation), so there may be no prior family history. Even when it runs in a family, the age hearing changes begin and how much hearing is affected can vary from person to person.
When to test your genes
Autosomal dominant nonsyndromic deafness 52: consider genetic testing if hearing loss runs in your family, especially with early-onset, progressive, or asymmetric patterns. Test before or during family planning, or when choosing hearing support (hearing aids, cochlear implants) to tailor care and anticipate progression. If you’re unsure, a genetic counselor can guide timing and options.
Diagnosis
Diagnosis usually starts with noticing a pattern of hearing changes and confirming it with ear exams and formal hearing tests. Some conditions have a genetic link, meaning they can run in families. For Autosomal dominant nonsyndromic deafness 52, doctors look for consistent features across family members and use genetic tests to confirm the specific cause. Imaging and other evaluations help rule out unrelated ear problems before naming the exact type.
Doctors ask about when hearing changes began and how they affect daily life. They also review relatives with similar hearing loss to see if a pattern fits an inherited condition.
A provider looks in the ear canal and checks the eardrum to rule out wax buildup, fluid, or infection. A normal exam supports an inner-ear (sensorineural) cause.
Standard hearing tests measure the softest sounds you can hear across pitches. The shape of the audiogram can suggest hereditary patterns typical of autosomal dominant hearing loss.
Tests check how clearly you understand words at comfortable volumes. Results help distinguish inner-ear from nerve or processing issues and guide hearing support options.
Stages of Autosomal dominant nonsyndromic deafness 52
Autosomal dominant nonsyndromic deafness 52 does not have defined progression stages. The pattern can vary between families—hearing may be stable or slowly change over time—and it’s tracked by hearing tests rather than a set staging system. Different tests may be suggested to help confirm the diagnosis, including pure-tone audiometry, speech testing, and sometimes genetic testing based on family history. In practice, early symptoms of Autosomal dominant nonsyndromic deafness 52 are often picked up on an audiogram before daily communication problems are obvious, and regular monitoring guides choices like hearing aids or other supports.
Outlook and prognosis
Many people ask, “What does this mean for my future?”, especially right after learning about Autosomal dominant nonsyndromic deafness 52. For most people, hearing changes start in childhood or early adulthood and gradually progress, usually affecting high-pitch sounds first. Day to day, that can mean missing doorbells or birdsong, needing the TV louder, or finding group conversations tiring. The outlook is not the same for everyone, but the pattern is most often a slow, steady decline rather than sudden loss.
Prognosis refers to how a condition tends to change or stabilize over time. In ADNSHL52, life expectancy is not reduced; this condition affects hearing without involving other organs. Early symptoms of Autosomal dominant nonsyndromic deafness 52 can be subtle, and early care can make a real difference in communication, school or work performance, and social connection. With timely support—such as hearing aids, classroom accommodations, or assistive listening devices—many people maintain active, independent lives.
Looking at the long-term picture can be helpful. Some people notice stable periods with gradual changes over years, while for others the shift is a bit faster; either way, regular hearing checks allow small adjustments that preserve clarity. Cochlear implants may be considered if hearing aids no longer provide enough benefit, and outcomes are generally good when implanted at the right time. Because this is inherited in an autosomal dominant pattern, each child of an affected parent has about a 50% chance of inheriting the gene change; genetic testing can sometimes provide more insight into prognosis for relatives who are considering screening. Talk with your doctor about what your personal outlook might look like, including when to reassess devices, plan follow-ups, and discuss support at school or work.
Long-term effects
Autosomal dominant nonsyndromic deafness 52 typically involves gradual changes in hearing that unfold over years. Long-term effects vary widely, with some people noticing slow shifts while others experience more steady declines. Early signs of Autosomal dominant nonsyndromic deafness 52 often include difficulty hearing high-pitched sounds or following speech in noise. Outlook depends on the pattern in each family and the specific change in the hearing pathway.
Hearing can slowly decline over time, often starting with higher-pitched sounds. In Autosomal dominant nonsyndromic deafness 52, the pace may be gradual and can level off for periods.
Trouble with birdsong, phone beeps, or children’s voices tends to appear first. Lower-pitched sounds often remain clearer for longer.
Conversations in restaurants or group settings can become harder to follow. Words may sound unclear even when the overall volume seems loud enough.
Ringing, buzzing, or hissing in the ears may develop or become more noticeable over the years. It can fluctuate in intensity from day to day.
How is it to live with Autosomal dominant nonsyndromic deafness 52?
Life with autosomal dominant nonsyndromic deafness 52 often means steady hearing changes across years, with sounds gradually losing crispness and speech becoming harder to follow, especially in noisy places. Many find that planning helps—using hearing aids or cochlear implants when appropriate, learning communication strategies like lip-reading, and setting up quiet, well-lit spaces for conversation can make daily life smoother. Family, friends, and coworkers may need brief guidance—face the person, speak clearly, reduce background noise—and these small habits can reduce fatigue and miscommunication for everyone. With early audiology follow-up, realistic expectations, and supportive technology, many continue school, work, and relationships with confidence and connection.
Treatment and drugs
Autosomal dominant nonsyndromic deafness 52 is managed by improving access to sound and supporting communication, since there’s no single medicine that “reverses” the hearing loss. Treatment plans often combine several approaches, such as appropriately fitted hearing aids, assistive listening devices (like TV streamers or remote microphones), and, when hearing loss is more severe, cochlear implants for one or both ears. Many people living with Autosomal dominant nonsyndromic deafness 52 also benefit from auditory rehabilitation, speech-language therapy, and communication strategies at home and work, including captioning, visual alerts, and learning basic sign or cued speech if helpful. You might picture this as a team effort between you and your doctor, an audiologist, and sometimes a genetic counselor to tailor choices to your type and degree of hearing loss and to discuss family planning. Regular hearing checks guide when to adjust devices or consider new options, and protecting your ears from loud noise can help preserve the hearing you have.
Non-drug treatment
Many living with Autosomal dominant nonsyndromic deafness 52 benefit from tools and training that make hearing and communication easier. Supportive therapies can build confidence at home, school, and work. Early symptoms of Autosomal dominant nonsyndromic deafness 52 may include missing soft consonants or difficulty in noisy rooms, so tailored strategies matter. Plans are individualized and can change over time as hearing needs shift.
Small devices amplify the pitches you struggle with most. An audiologist programs them to your hearing test and can adjust settings over time. Features like directional microphones and Bluetooth can make conversations clearer in noisy places.
For severe hearing loss that hearing aids don’t help enough, a cochlear implant can directly stimulate the hearing nerve. This involves surgery and follow-up programming. Ongoing listening therapy helps your brain make the most of the new signal.
These devices send sound through bone to the inner ear and may help in select cases. An ear specialist evaluates whether your hearing pattern fits this option. Trials with a headband version can preview potential benefit.
Remote microphones, TV streamers, and phone adapters bring the speaker’s voice closer to your ears. They reduce the impact of distance and background noise. Many pair seamlessly with modern hearing aids.
Your genes may have an impact on how drugs work for you
Medicines for hearing loss in autosomal dominant nonsyndromic deafness 52 can work differently depending on variations in genes that affect inner ear cells and how your body processes drugs. Pharmacogenetic testing may guide safer dosing and choice, but evidence is still evolving.
Pharmacological treatments
Medicines play a limited role in Autosomal dominant nonsyndromic deafness 52 (DFNA52), which is a genetic, progressive hearing loss; most day-to-day improvement comes from devices like hearing aids and cochlear implants. Early symptoms of Autosomal dominant nonsyndromic deafness 52 can be subtle, such as difficulty hearing high-pitched sounds or following speech in noise. In certain situations—like a sudden drop in hearing or bothersome tinnitus—short courses of medication may help specific symptoms. Alongside drug therapy, hearing protection and assistive listening devices remain important.
There is no approved medication that reverses or slows DFNA52-related hearing loss. Drug treatments are used for short-term issues, like sudden hearing drops or tinnitus. Doctors also review current medicines to reduce ototoxic risk.
Prednisone or prednisolone may be started quickly if a sudden sensorineural hearing loss occurs. Treatment is usually begun within days and tapered over 1–2 weeks. Sometimes medicines are taken short-term (acute treatment), while others are used long-term (maintenance therapy).
Dexamethasone or methylprednisolone can be injected through the eardrum if pills are not possible or as an add-on for sudden hearing loss. This delivers steroid directly to the inner ear and can be repeated over several visits. Side effects are typically mild, such as brief dizziness or ear fullness.
Short-term medicines like nortriptyline, amitriptyline, clonazepam, or gabapentin may be tried in select cases of distressing tinnitus. Benefits are modest and these drugs are not needed for everyone; sound therapy and counseling often help more. Not everyone responds to the same medication in the same way.
Genetic influences
In many families, hearing loss shows up across generations on one side; that’s the pattern seen with Autosomal dominant nonsyndromic deafness 52, which affects hearing but not other body systems. This condition is “autosomal dominant,” meaning a change in just one copy of a hearing‑related gene can cause it, and each child of an affected parent has a 50% (1 in 2) chance of inheriting the same change. The exact age it starts and how quickly hearing declines can differ widely, even among relatives, and some people may have milder loss than others. Family history is one of the strongest clues to a genetic influence. Genetic testing for Autosomal dominant nonsyndromic deafness 52 may confirm the cause in a family, though not every genetic change is known yet, and occasionally the change is new in the individual. Meeting with a genetic counselor can help you understand results, discuss the chance of passing it on, and plan next steps for you and your relatives.
Is Autosomal dominant nonsyndromic deafness 52 genetic?
Genetics plays a central role in Autosomal dominant nonsyndromic deafness 52. Single-gene variants, often in TECTA, ACTG1, or KCNQ4, can disrupt inner-ear function. Inheritance is autosomal dominant, so each child has a 50% chance of inheriting the variant.
Pharmacogenetics—how genetics influence drug effects
Treatment usually centers on hearing support, like hearing aids or cochlear implants, because there isn’t a medicine that reverses the gene change itself. That said, genes can shape how safely you can use certain medicines that affect the ear. A key example is a group of antibiotics called aminoglycosides (such as gentamicin): some people have changes in mitochondrial DNA that make these drugs far more likely to cause sudden, permanent hearing loss, and the risk can be high even with a single dose. Other medicines, including some chemotherapy drugs like cisplatin and, less commonly, high-dose “water pills” used in hospitals, can also injure hearing, so your care team will weigh risks and benefits carefully. Alongside medical history and hearing tests, genetic testing can help flag higher ototoxic risk and guide antibiotic or chemotherapy choices. For people with Autosomal dominant nonsyndromic deafness 52, the specific gene involved may also influence how well a cochlear implant works, which your team will consider when planning care. If you’re wondering about medications to avoid with Autosomal dominant nonsyndromic deafness 52, ask about alternatives to aminoglycosides when possible and make sure past drug reactions are clearly noted in your records.
Interactions with other conditions
Living day-to-day with autosomal dominant nonsyndromic deafness 52 often means your hearing can feel more sensitive to other health factors. Ear infections, long-term noise exposure at work or concerts, and the natural changes that come with aging may add to existing hearing difficulty. Ask if any medications for one condition might interfere with treatment for another. Certain drugs—especially some chemotherapy agents and older antibiotics—are known to be hard on the inner ear, and avoiding or adjusting them when possible can help protect hearing.
Autosomal dominant nonsyndromic deafness 52 is typically limited to hearing and isn’t usually tied to balance, vision, kidney, or heart problems, but common conditions like diabetes, high blood pressure, or thyroid disease can still affect overall ear health. Early symptoms of autosomal dominant nonsyndromic deafness 52 can be subtle, so having another illness at the same time may make changes in hearing easier to miss. Interactions can look different from person to person, and not everyone will notice a major shift when another condition is present. If more than one specialist is involved, coordinated care helps ensure hearing needs stay front and center while other conditions are treated.
How genes can cause diseases
Humans have more than 20,000 genes, each carrying out one or a few specific functions in the body. One gene instructs the body to digest lactose from milk, another tells the body how to build strong bones and another prevents the body's cells from beginning to multiply uncontrollably and developing into cancer. As all of these genes combined are the building instructions for our body, a defect in one of these genes can have severe health consequences.
Through decades of genetic research, we know the genetic code of any healthy/functional human gene. We have also identified that in certain positions on a gene, some individuals may have a different genetic letter from the one you have. We call these hotspots "Genetic Variations" or "Variants" in short. In many cases, studies have been able to show that having the genetic letter "G" in the position makes you healthy, but having the letter "A" in the same position disrupts the gene function and causes a disease. Genopedia allows you to view these variants in genes and summarizes all that we know from scientific research, which genetic letters (Genotype) have good or bad consequences on your health or on your traits.
History
Families and communities once noticed patterns of hearing loss that seemed to pass from parent to child, often affecting several generations in similar ways. A grandparent might have needed people to face them when speaking, a parent began using subtitles in their 30s, and a teenager noticed trouble hearing teachers in a noisy classroom. These lived stories came long before today’s tests could pinpoint the cause.
From early theories to modern research, the story of Autosomal dominant nonsyndromic deafness 52 reflects how medicine learned to separate hearing changes that occur on their own from those linked to other medical features. Early medical reports grouped many types of inherited hearing loss together, because the symptoms overlapped and technology was limited. With better hearing exams and family studies, doctors recognized that some forms followed a clear dominant inheritance pattern—meaning one changed gene from either parent could be enough to cause hearing loss—without other health issues. This helped define nonsyndromic types as distinct conditions.
As genetic tools matured in the late 20th and early 21st centuries, researchers began connecting specific genes with particular patterns of hearing loss seen in families. For Autosomal dominant nonsyndromic deafness 52, studies of large family trees, careful hearing tests across ages, and DNA analysis revealed a repeated signature: hearing affected mainly at certain pitches, often beginning in childhood or early adulthood, while overall health remained typical. Initially understood only through symptoms, later work tied these clinical patterns to changes in genes active in the inner ear’s delicate sound-sensing cells.
In recent decades, awareness has grown that even within the same diagnosis, the age when hearing changes start and the pace of progression can vary. This variability, observed across families with Autosomal dominant nonsyndromic deafness 52, explained why earlier descriptions sometimes seemed inconsistent. Not every early description was complete, yet together they built the foundation of today’s knowledge. Modern hearing tests can track changes over time, and genetic testing can confirm the underlying cause in many families, turning what used to be a descriptive label into a precise diagnosis.
Today, the history of Autosomal dominant nonsyndromic deafness 52 guides care. Knowing the condition’s history helps clinicians recognize early symptoms of Autosomal dominant nonsyndromic deafness 52, offer timely hearing support, and counsel families about inheritance in clear, practical terms. Each step—from community observations to genetic discoveries—has added detail and confidence, shaping the way people living with this condition are diagnosed and supported.