p.Glu2168* — ASH1L case profile | ASH1L.org

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Early development and communication

At around two years old, she became frustrated very easily. She might hit her head against a headboard or throw her head backward. Because she was the family’s first child, these episodes initially looked like intense toddler tantrums rather than part of a broader developmental pattern.

As she approached three, the language difference became unmistakable. She often communicated with only one or two words, struggled to form a simple sentence, and omitted the beginning of words. “Shadow” became “dow,” and “milk” became “ilk.” When the family first raised the concern, they were advised to give her more time. They continued searching for help and arranged an early-childhood evaluation, which identified receptive and expressive language delays.

She entered an early-childhood special-education program and remained there for approximately two years. When the school recommended that she move to kindergarten, her family believed she was not ready. She struggled even with an IEP, and they chose to have her repeat kindergarten so she would have more time to develop.

Speech and language support became a major part of childhood. She received school-based and private speech therapy for approximately twelve years and continued receiving services in high school. Her evaluations have included expressive and receptive language disorder, auditory processing disorder, dysgraphia, speech and articulation difficulty, and mild intellectual disability. Her communication profile is broader than pronunciation alone: understanding language, organizing a response, finding and sequencing words, holding verbal information in mind, and translating what she knows into clear speech can all require substantial effort.

A cyclic stutter became noticeable at around seven or eight years old. During more difficult periods, she spoke very quickly and repeated the same phrase several times before she could move forward. She knew it was happening, and other children sometimes teased her about it. Speech therapists taught her ways to slow down and speak more smoothly. The stutter improved over time and is now heard only occasionally. One striking observation is that she can talk extensively in her sleep without stuttering.

Her family does not describe a major regression or loss of previously acquired skills. Development has been slow and uneven, but it has continued. Her progress is easiest to see over long stretches of time rather than from week to week.

Chapter 02Learning, school, epilepsy, and neurologic events

Memory, learning, and intellectual development

Short-term and working-memory difficulty has shaped almost every stage of her education. Learning the alphabet and counting to 100 required far more repetition than expected. Holding even a three-digit number in mind could be extremely difficult. In mathematics, she might learn the steps of a problem, complete the next example successfully, and then face the same process ten minutes later as though she had never seen it before.

Reading shows a similar separation between performing a visible task and retaining its meaning. She may be able to read a short story, package, or set of written directions but then answer a question with information that does not relate to what she just read. Independent written instructions are therefore much less accessible than they may appear. The challenge is not a lack of effort. It is the amount of information she can hold, organize, retrieve, and apply at one time.

Repetition is her strongest route into learning. When information is rehearsed often enough to become part of long-term memory, she can retain it and use it. This distinction is central to understanding her: she can learn, but new information often needs to be presented in small pieces, practiced many times, revisited across settings, and supported with visual or external reminders before it becomes reliable.

Her family reports that repeated neuropsychological testing by different clinicians from approximately ages five through fifteen produced consistent results in the mild intellectual-disability range, with IQ scores generally between 70 and 80. By eighth grade, the family was told that her academic performance was around a fourth-grade level. Remote learning during the COVID lockdown was especially difficult because it placed heavy demands on independent reading, attention, working memory, technology use, and self-organization.

In the latest family update, her academic functioning was estimated to be roughly comparable to that of a twelve-year-old. That description is not a limit on what she can learn. It captures the pace and level at which academic material is currently most accessible. Her family continues to see gradual progress, especially when instruction is concrete, predictable, repeated, and connected to daily life.

ABA therapy was tried during an earlier period when frustration and aggression were severe, but it was not a successful fit. Across childhood and adolescence, terms such as attention difficulty, impulsivity, anxiety, depression, obsessive interests, and emotional lability have also been used to describe parts of her experience. No single label captures the way language, memory, sensory input, fatigue, pain, medication timing, and environmental demand interact for her.

School completion and the transition to adulthood

She completed twelfth grade and walked across the stage at graduation—an important achievement after years of language, memory, learning, and emotional challenges. The district retained her diploma while she remained enrolled through an 18-plus transition and vocational program. Her current pathway includes three workplace rotations designed to build job skills, increase confidence in real-world settings, and help determine what kind of work and support fit her best. Paid work is one possible next step; another supported adult program remains an option if she needs a different structure.

During high school, the family’s planning gradually shifted away from a traditional college path and toward life skills, vocational preparation, supported independence, safety, and meaningful participation in the community. Technical or vocational education has remained part of that hope. Her family is also planning a trust and thinking carefully about the support she may need when her parents can no longer provide everything themselves.

That shift was emotionally significant. It required the family to grieve one expected path while still refusing to give up on education, work, growth, or a full adult life. Their planning became more individualized: not “Can she follow the standard route?” but “What route will let her use her strengths, keep learning, stay safe, and participate meaningfully?” The workplace rotations are part of answering that question through experience rather than assumption.

The goal is not independence at any cost. It is a life with as much choice, competence, purpose, connection, and self-direction as possible, together with reliable support where she needs it. Her progress may be slow, but it is real. Completing school, entering job rotations, learning instruments, maintaining relationships, and continuing to acquire practical skills all show what can happen when expectations are paired with time and appropriate support.

Absence epilepsy and EEG history

Before epilepsy was diagnosed, her family sometimes saw her eyes roll upward, particularly when she was angry or frustrated. She remained conscious, and the movements were not classified as seizures at the time. Her family continued to wonder whether something neurological was being missed.

A brain MRI at approximately age seven was reported as normal. After the family persisted in requesting an EEG, absence epilepsy was diagnosed in August 2016, when she was approximately eight years old. Ethosuximide was started. It reduced the visible absence events but did not fully control the burden: breakthrough activity was still reported, and EEGs continued to show spikes or discharges. Her care later moved to a neurologist specializing in epilepsy.

The delayed recognition has remained painful for her family. Looking back at the earlier upward eye movements and years of cognitive difficulty, they have wondered whether identifying and treating the absence epilepsy sooner might have reduced some of the learning burden. That question cannot be answered retrospectively, but it is an important part of how the family experienced the diagnostic journey: they noticed something, continued asking, and eventually obtained the testing that revealed epilepsy.

In November 2020, ethosuximide was replaced with lamotrigine. The family saw a substantial clinical improvement and has not observed further breakthrough absence seizures. They were also told that the EEG discharges became shorter, at one point lasting less than a second, although her annual EEGs have continued to be abnormal. In the late-teen history, her lamotrigine dose was reported as 100 mg twice daily. Her family currently describes the seizures as controlled with medication.

She has undergone repeated EEG monitoring, including multiple 24-hour video EEGs performed at home. Home monitoring allows her family to observe her in a familiar environment and gives clinicians a longer sample of ordinary sleep and waking behavior. This has been especially useful because absence events can be subtle and may not be obvious in daily life.

Medication timing matters. Her family reports that missing a lamotrigine dose can be followed by dramatic emotional and behavioral dysregulation. That association is important for her care even though the dysregulation itself is not automatically a seizure. Fatigue and being unwell have also been viewed as periods of greater vulnerability, reinforcing the importance of sleep, routine, and consistent medication administration.

Hypotonia, coordination, joints, stairs, and pain

A neurologist diagnosed hypotonia, low muscle tone, and impaired motor coordination. Occupational therapy began during childhood, and physical therapy later addressed low tone, postural control, reflex integration, motor planning, gross-motor development, and coordination. Fine-motor difficulty and dysgraphia added to the effort required for handwriting and schoolwork.

Her family describes her as double-jointed, with generalized looseness or hypermobility. Lower-body coordination has been especially noticeable. Alternating legs on stairs did not come naturally. Therapy helped, and she can now use an alternating pattern more successfully, but she remains very slow on stairs. Skipping, exercise, sports, dance sequences, and other whole-body activities can require much more concentration and effort than they do for peers.

Her enjoyment of dancing and her ability to learn bass and viola are not contradictions to this motor history. They show that her performance changes with the task. Rhythm, repetition, motivation, a predictable sequence, and sustained practice can give her access to abilities that are much harder to use spontaneously in a busy physical setting.

When she was younger, she sometimes complained that a foot or leg ached for no obvious reason. The side was not consistently remembered or recorded, and the complaints have become less frequent with age.

She is highly sensitive to pain. A small injury, minor illness, or slight discomfort can feel overwhelming and produce an intense response. At the same time, she can have difficulty judging how much force she is applying to herself, another person, or an object. She may therefore experience her own pain very intensely while still pressing too hard during a hug, massage, or self-care task. These are different parts of sensory processing and can occur together.

She is nearsighted and wears glasses. In the late teens, she began precautionary follow-up with neuro-ophthalmology alongside routine optometry, with serial eye scans planned to watch for change. No specific ASH1L-related eye disease has been identified in her.

Chapter 04Emotional regulation, supports, gastrointestinal, and menstrual health

Emotional regulation, anxiety, and reassurance

Emotional regulation has been difficult since toddlerhood. Early episodes included head banging and throwing her head backward. As she grew older and demands increased, frustration could become aggression. During the most severe periods, she punched holes in walls. She also became increasingly aware that school, speech, memory, and social situations were harder for her than for peers. She has asked why she has problems that other children do not, and teasing about her stutter added to the pain of feeling different.

Anxiety, irritability, moodiness, impulsivity, obsessive interests, and depressive symptoms have all been part of the family’s concerns at different times. She began psychiatric care in 2018. She frequently needs reassurance that people love her or like her and can be very sensitive to perceived rejection.

Fatigue is one of the clearest triggers for escalation. When sleep has been poor, frustration may rise into crying, anger, pushing or hitting, breaking objects, or hyperventilating. Small comments can feel enormous once she is overloaded. Her family has learned to notice the change early, reduce demands, choose words carefully, and help her settle before the episode reaches that point.

Firm touch can sometimes help. If she is receptive, a hug or massage to the neck or back may provide the deep pressure she seeks and help her regulate. At other times, she does not want anyone close to her, and space is more helpful. Her family has become skilled at reading which response she can tolerate in the moment.

These episodes were more frequent and severe when she was younger. They have improved substantially with age and with the family’s ability to anticipate fatigue, pain, sensory overload, communication breakdown, and medication timing. They have not disappeared completely, but they are now less common and more often interrupted before they become dangerous.

What helps her succeed

Her history shows that support works best when it is built around how she actually processes information rather than around how quickly a same-age peer is expected to respond. She benefits from extra time, smaller steps, repeated practice, and opportunities to use a skill in more than one setting. A single explanation may not stay available in working memory, but patient repetition can eventually create durable learning. Her ability to retain material once it reaches long-term memory is one of the most important foundations for teaching her.

Concrete information is easier to use than an abstract instruction. “Use less” or “be gentler” asks her to judge an invisible amount. A direct model, a clearly marked quantity, a consistent sequence, or supervised practice gives her something she can see and reproduce. Even then, the skill may need to be taught again many times before it becomes automatic. This is true in academics, self-care, motor tasks, and workplace learning.

Consistency also protects her regulation. Reliable medication timing, adequate sleep, predictable transitions, and early recognition of fatigue reduce the number of demands arriving after her coping capacity is already depleted. When she begins to escalate, lowering the intensity of the situation and helping her feel safe are more effective than treating the behavior as deliberate defiance. Deep pressure may help when she welcomes it; space may be necessary when she does not.

Meaning and motivation matter. She has learned demanding skills—including musical instruments and complex creative tools—when she is interested, the task is structured, and she has enough practice. Her motor, language, and cognitive challenges are real, but they do not produce a uniform ceiling across every activity. The best picture of her ability comes from watching what she can build over time with the right access, not from judging only what she can do quickly or independently on first exposure.

Her transition program extends this same principle into adulthood. Repeated real-world experience can show which duties become reliable, what supports are needed, how much prompting is useful, and which environments allow her strengths to emerge. Success may include supported employment, continued skill building, and shared decision-making. The support does not diminish the achievement; it is part of the access that makes achievement possible.

Chapter 05Skin, treatment responses, toileting, family history, and whole person

Skin, itching, and benign pathology

In early childhood, she developed an unusual rash on her back. A dermatologist considered contact dermatitis. Years later, a mole on the external pubic area was biopsied and found to be a benign compound nevus.

In 2025, a rash developed on the breasts and, during the first episode, on the legs. It was initially thought to be eczema and was later considered possibly impetigo. Antibiotic treatment and a topical cream improved it, but the breast rash subsequently returned. Breast imaging and ultrasound were performed because clinicians wanted to exclude Paget disease; the workup did not establish Paget disease.

She also experiences intermittent itching of the breasts, the inner elbows, and the hands. A visible rash is usually present only on the breasts, not on the elbows or hands.

Her vaccinations have been kept up to date. Her family says she is generally not sick often and has not shown a consistent pattern of prolonged systemic worsening after common infections.

Medication and treatment responses

Her medication history reflects years of trying to improve seizures, attention, emotional regulation, and menstrual distress:

Ethosuximide was started after the absence-epilepsy diagnosis in 2016. Visible absence events improved, but EEG spikes or discharges continued, and the family remained concerned about incomplete control.

Lamotrigine replaced ethosuximide in November 2020. The family has not observed further breakthrough absence seizures, and the EEG discharges reportedly became shorter, although annual EEGs remain abnormal. The late-teen dose was reported as 100 mg twice daily. Missing a dose can be followed by severe dysregulation, making consistent administration especially important.

Stimulants for attention included Vyvanse, Focalin XR, Ritalin or methylphenidate, and Adderall. They did not produce a meaningful enough improvement in attention to justify the side effects. Facial, mouth, and neck movements developed, including an unusual swallowing-like motion in which she extended her neck. The movements resolved after the stimulant was stopped, and the family did not continue stimulant treatment.

Fluoxetine and guanfacine were started through psychiatry in 2018. Guanfacine was tapered first beginning in 2024, and fluoxetine was stopped in October 2025. The family did not see adverse effects from discontinuation and found it difficult to determine how much either medication had helped.

Menstrual suppression progressed from injections to an IUD and then to a daily progestin-only pill.

Skin treatment with an antibiotic and topical cream improved the 2025 rash, although the breast symptoms later recurred.

No unusual response to anesthesia, procedural sedation, acetaminophen, or antibiotics has been reported.

The whole person

Her history spans premature birth and neonatal jaundice; an early latch difference; lifelong language, auditory-processing, and learning needs; mild intellectual disability; severe working-memory burden; hypotonia, dysgraphia, and coordination differences; absence epilepsy with clinically controlled seizures but persistently abnormal EEGs; unusual sleep; childhood airway and middle-ear disease; low-frequency hearing loss, tinnitus, and intermittent left-ear muffling; sensory seeking and sound sensitivity; difficulty grading pressure, volume, and quantity; fatigue-linked emotional dysregulation; intermittent constipation; menstrual anxiety; skin and itching concerns; and the practical work of preparing for adulthood.

Every part of that history matters. None of it should erase the young woman at its center.

She works hard. She notices details other people miss. She coordinates outfits, makes digital art, sings, dances, plays instruments, enjoys games and food, maintains friendships, and keeps learning. She completed high school and is building vocational skills through real workplace experience. She has grown out of some childhood behaviors, learned strategies for others, and made progress that becomes visible when her life is viewed across years rather than measured against someone else’s timetable.

Her family has met uncertainty with persistence. They pursued early intervention, special education, private and school-based therapy, neuropsychological testing, EEGs, MRIs, a sleep study, specialist care, psychiatric support, genetic testing, and transition planning. They learned how to teach through repetition, how to recognize fatigue before it becomes crisis, how to use pressure or space according to what she can tolerate, and how to balance protection with the opportunity to grow.

The ASH1L diagnosis gave that long history a molecular anchor. It also opened the possibility of being understood by other families and clinicians who recognize parts of the same path. Her future will require support, but support is not the opposite of accomplishment. With the right structure, repetition, respect, and opportunity, she continues to show that slow progress is still progress—and that a meaningful adult life can be built around her strengths, preferences, relationships, and goals.