Alessandro is eight years old. He lives in Hamburg with his parents — both Italian — his younger sister Sveva, and Shumba, their Labrador. He loves the Avengers, with Hulk as his undisputed favourite. His favourite colour is green. He is passionate about pesto — which he would happily put on everything — and pommes frites. He loves books, the bigger the better, and likes to carry them around with him. He is also one of the most affectionate people you will meet. He also has Dravet Syndrome, a rare and severe form of epilepsy. This is our account of what that has meant for him, and for us.

Where we are today

Alessandro has been seizure-free since March 2022. He is on a stable regimen of two medications — Fintepla (fenfluramine) and Orfiril Long (valproate) — and has been on this combination for over three years now. That's not a cure. Dravet Syndrome doesn't go away. But it's a stability we once couldn't imagine, and it came after years that were genuinely brutal.

The beginning — Italy, 2018

Alessandro's first seizure came when he was just four and a half months old — about twenty minutes after a routine meningitis vaccination. It was subtle: just some eye movements and head turning — not the dramatic convulsing you might picture from a seizure, which is part of why it didn't immediately read as one. We didn't dismiss it. The frequency with which it repeated made that impossible. Epilepsy was diagnosed that same month.

The early treatment approach, guided by a specialist in Florence who was already experienced with Dravet, was Stiripentol (Diacomit) combined with Clobazam (Frisium). Even at that stage — before we had a confirmed genetic cause — Fintepla was already mentioned as a possible next step if things didn't hold. That note was filed away. It would take four more years to become relevant.

In July 2018, when Alessandro was six months old, he had his first documented Status Epilepticus (SE). It was febrile — triggered by a fever — and biphasic. He seized at home for around twenty minutes during a car journey, stopped briefly when he reached hospital, then started again in the paediatric ward. It didn't stop on its own. He needed ICU-level care, though he wasn't intubated and was breathing independently. He recovered, and we moved forward.

Moving to Hamburg — and a diagnosis that stayed in question

We relocated to Hamburg in late November 2018. Alessandro was ten months old. His care transferred to the neuropaediatric team at UKE (Universitätsklinikum Hamburg-Eppendorf), who became his ongoing neurology team.

Here is something important to understand about what followed, because many families find themselves in the same situation: the Dravet diagnosis was not accepted in Hamburg. Not at first, and not for years.

The Italian neurologists in Florence — a team with deep experience in Dravet — had made a clinical Dravet diagnosis on the basis of Alessandro's seizure semiology alone. But when we arrived in Hamburg, the picture looked different to a fresh team. Alessandro's seizures at that stage were frequent but shorter, typically responding to rescue medication, without the catastrophic status epilepticus pattern that makes the diagnosis unmistakable. For classic Dravet, the presentation was considered mild.

And then came the genetics. In late 2018, the Italian team had ordered an SCN1A gene panel. The result came back negative — SCN1A clear, no pathological findings in any of the other epilepsy-related genes tested. When UKE received this report in December 2019, it appeared to argue against Dravet. SCN1A accounts for the great majority of confirmed Dravet cases; if the gene was clear, perhaps the diagnosis was wrong.

It wasn't wrong. But we didn't know that yet. What the test had actually missed — invisibly, undetectably — was a large deletion in the regulatory region of SCN1A, a stretch of DNA that sits upstream of the gene itself and controls whether it switches on. Standard genetic panels don't read that region. Exome sequencing doesn't read that region. The only test that can detect it is whole-genome sequencing, and that would not happen for another seven years.

In the meantime, we were left in a place many Dravet families will recognise: a child who looked and behaved like Dravet in every clinical way, a team treating it largely as Dravet, and no genetic confirmation to close the question definitively.

The worst period — October 2020 to February 2021

This is the part of Alessandro's story that is hardest to write. But before we get to the worst of it, it's worth being honest about something that often gets lost in medical summaries: the eight Status Epilepticus episodes documented in his history were the most severe events, but they were not the only seizures. Between 2018 and 2022, Alessandro had many more seizures that didn't reach SE level but were still frightening, still required rescue medication, and still accumulated into years of interrupted sleep, constant vigilance, and the exhaustion that goes with it. The SE count is the clinical headline. The real burden was much broader.

In the space of four months — October 2020 to February 2021 — he had six Status Epilepticus episodes. Six. Some required intubation and mechanical ventilation. Several required ICU admission. Every one of them was terrifying.

Several required intubation and mechanical ventilation. Several required ICU admission. Some were triggered by viral illness; one came without any fever at all. Each one required a different escalation sequence to stop. He survived every one and came home every time. But that period left a mark on our whole family that doesn't just go away.

The cluster also resolved the diagnostic question that had been hanging open since 2018. Midway through it, the UKE team formally wrote, for the first time, that the clinical picture was "most consistent with Dravet syndrome." Not confirmed. Not definitive. But named. It had taken six ICU admissions to cross that threshold.

What we learned about Alessandro's seizures

• Viral illness was almost always the trigger — Rhinovirus, Enterovirus, Bocavirus. Any fever, even mild, carried real risk.
• Seizures typically started focally — gaze deviation (upward or to the side), abnormal breathing, reduced responsiveness. The dramatic convulsions you might picture from a seizure aren't always how it looks with Alessandro. Absence of visible shaking does not mean the seizure isn't serious.
• Buccolam (midazolam) at home often only partially worked. It would sometimes provide transient control but the seizure would restart. We learned not to wait and watch after the first dose — getting to hospital quickly was the right call.
• The window matters. The longer a seizure runs, the harder it is to stop, and the more medication it needs. Early escalation saved him.

The turning point — March 2022

On 5 March 2022, Alessandro had his eighth documented SE. It came from sleep, with no fever. There was prolonged apnoea and aspiration risk. Another ICU admission. Buccolam at home, followed by IV Levetiracetam, IV Midazolam, and bag-mask ventilation.

That episode finally crossed a threshold. Fintepla (fenfluramine) — the medication that had been flagged as a potential next step back in Florence in 2018 — was started.

It worked.

Alessandro has been seizure-free since March 2022 — over three years, across eight documented Status Epilepticus episodes that began when he was six months old and ended with this one. His current dose of Fintepla 2.4 ml twice daily, combined with Orfiril Long 300 mg twice daily, has held steady. We don't know if it will last. We don't take it for granted. But it's real.

His current medications — explained

Rescue medication

Buccolam (midazolam buccal)

Buccolam is our first-line rescue medication. It's given buccally — absorbed through the inside of the cheek. We use the 7.5 mg dose.

One thing we feel strongly about: we give it immediately, at the very start of a seizure, without waiting. We do not wait to see if the seizure will stop on its own. The risk of a prolonged seizure — and the damage it can cause — is far greater than the risk of giving a dose of Buccolam that turns out not to have been strictly necessary.

One thing we want other families to know: we call the ambulance at the same moment we give the Buccolam — not after. We do not wait to see if it works. Even if the seizure stops before the ambulance arrives, Alessandro still goes to hospital. Every time, without exception. If a second dose is needed, it can only be administered by medical staff — so the hospital needs to be in the picture from the start.

Fever protocol — and why it's harder than it sounds

Fever was Alessandro's most consistent trigger. We want to be honest about this, because the standard advice — "give antipyretics early, as soon as you see a fever" — is correct in principle but incomplete in practice.

The problem is that Alessandro's seizures were triggered by the sudden rise in temperature, not by sustained high fever. By the time we noticed the first sign — a warm forehead, a slightly flushed face — the temperature had often already spiked fast enough to trigger a seizure. The window between "he seems a bit warm" and "the seizure has already started" was sometimes minutes. Antipyretics take time to act. They couldn't reliably close that gap.

Fever management in Dravet, before an effective seizure medication is in place, is genuinely difficult. Early antipyretics are the right instinct, but they are not a reliable prevention. That reality is worth naming, because other families deserve to hear it rather than feel they failed because a seizure happened despite their best efforts.

Since Fintepla, fever is no longer the threat it was. We still reach for antipyretics at the first sign — old habits — but the acute dread that used to come with any sniffles in the house is gone.

The genetic answer — seven and a half years later

In March 2026, Whole Genome Sequencing at our hospital in Hamburg finally gave us the answer: a large deletion in the 5′UTR promoter region of SCN1A — the regulatory stretch of DNA that sits upstream of the gene itself and controls whether it switches on. Alessandro's copy of that region was broken. It had been broken from birth.

The reason it took so long to find is straightforward: standard genetic tests don't read that part of the genome. Gene panels don't cover it. Exome sequencing doesn't cover it. These tests are designed to read protein-coding regions. The regulatory region where Alessandro's deletion sits is non-coding. Whole Genome Sequencing is the only methodology that reads the entire genome, including those regions.

The variant was classified as likely pathogenic, supported by published cases of overlapping SCN1A promoter deletions confirmed as causal for Dravet syndrome.

This was the answer the Italian team had suspected since 2018. It confirmed what they had diagnosed clinically eight years earlier, and it ended the diagnostic limbo.

But here is something equally important to understand: Whole Genome Sequencing as a clinical tool only became widely available and interpretable in the years approaching 2026. The analytical frameworks needed to classify variants in non-coding regulatory regions have matured only recently. The earlier tests were not wrong. They did exactly what they were built to do. For other families: if your child has a Dravet clinical picture and genetic testing has come back negative, that is not the end of the story. Ask your neurologist specifically about Whole Genome Sequencing. It looks where the other tests don't — and the clinical tools to interpret what it finds are now genuinely there.

The inheritance — mosaicism in the family

There's an additional layer to this that we think matters for families, particularly if a parent has any history of seizures in their own childhood.

Alessandro's father carries the same SCN1A 5′UTR deletion — but only in approximately 20% of his cells. This is somatic mosaicism. His own childhood epilepsy was milder and resolved in adolescence. He has been seizure-free since his early teens.

What this shows, in a concrete and personal way, is something already known in Dravet genetics: the same SCN1A variant can produce a full Dravet phenotype in one person and a much milder GEFS+-like epilepsy in another, depending on the proportion of affected cells and other genetic factors.

If your child has a Dravet phenotype, you have had a negative exome, and either parent has any personal or family history of febrile seizures or childhood epilepsy: ask your neurologist about Whole Genome Sequencing. Mosaicism is a real possibility, and it changes both the diagnosis and the genetic counselling picture.

Kita — and everything before school

Getting Alessandro into childcare took longer than it should have. Hamburg has long Kita waiting lists in ordinary times; COVID stretched them further. By the time we found a place, he was well past the age most children start.

The first Kita required a nurse on-site to administer emergency medication. The insurance approved the cost. What followed was months of searching for a firm that had someone available — qualified nursing staff for a Kita posting are not easy to find. The firm we eventually found placed someone in the role; that person left for their own reasons, and neither the insurance nor we could find a replacement. The funding existed. The provider didn't.

When Alessandro did have a seizure at Kita — just one — the leadership restricted his hours to three a day. My wife spent much of that time in the car park outside, unable to go far in case she was needed. That is an honest picture of what those years looked like.

Things changed with Fintepla. Once the seizures were under control, we found an inclusion Kita where Alessandro was simply part of the group — known, accepted, at ease. It was a different experience entirely, and it gave us the first real glimpse of what life could look like for him.

School — Hinsbleek

Alessandro started primary school in August 2024. After we moved house in February 2025, he transferred to Schule Hinsbleek — a special education school in Hamburg — and it was the right fit from the beginning.

At Hinsbleek, Alessandro has something that matters more than any document or formal designation: a teacher who knows him deeply, is experienced with children who need what he needs, and genuinely cares about him. That combination — experience and real affection — is rarer than it should be, and we are aware of how lucky we are to have found it. The other children are protective of him in the quiet way that sometimes happens when a class genuinely knows someone. He belongs there.

The practical framework is solid. Alessandro has a formal special educational needs designation with a primary focus on physical and motor development. His learning goals are individually tailored — he works towards objectives set for him, not the standard curriculum (Zieldifferenz). In January 2026, his Pflegegrad (formal care level in the German social support system) was raised from 2 to 3, reflecting the full scope of his daily needs. This opened the path to a full-time 1:1 Schulbegleitung — a dedicated aide who accompanies Alessandro through the entire school day, including breaks and transitions, monitors for seizure signs, and carries his emergency medication.

The one structural problem is therapy provision. Hinsbleek offers Physiotherapy on-site, which is excellent. But Ergotherapie and Logopädie — both of which Alessandro needs — are not available at the school. Families have to source these externally, which means navigating Hamburg's waiting lists on their own.

The Hort — and a fight worth having

The GBS (the after-school programme that runs until 16:00) did not go smoothly when it started. The Hort team were still getting to know Alessandro, and some of his behaviours were misread. Without consulting us, the Hort reduced his permitted hours from 16:00 to 15:00, citing a lack of resources. They did this unilaterally.

We did not accept it. Alessandro is entitled to the full day. We filed a formal complaint, brought in the school authority and the regional inclusion ombudsman, and went through a series of meetings over several months. It was exhausting — the kind of exhausting that accumulates on top of everything else a Dravet family is already carrying. Eventually the Hort leadership made concrete changes: a reorganisation of personnel to provide dedicated supervision for Alessandro through to 16:00 every day. The situation is now resolved.

We found our way to the right support through Lebenshilfe Hamburg (LmB HH), whose guidance connected us with the ombudsman for inclusive education. Without that contact, navigating the authority process would have been significantly harder.

Other families in Germany will recognise the pattern: a system that doesn't move until it's pushed. You have every right to push. It takes more energy than it should, but it can work — and knowing where to find support makes a real difference.

Development, therapies, and the gaps in between

Beyond the seizure history, Alessandro lives with a profile that shapes every part of his day: significant cognitive impairment, a language delay with expressive speech as his particular challenge, and motor difficulties that affect both his posture and his fine motor control. He is bilingual in Italian and German — Italian is the language of home — and language has been a genuine relative strength within a profile that tests hard across the board. His comprehension is meaningfully stronger than what he can express; there is more going on inside than he can easily put into words.

He communicates warmly and directly, particularly with adults who know him. He approaches the people he trusts physically — a hand on the arm, a lean-in. He likes what he likes: Marvel, Star Wars, music. He knows his own mind. He is present. He participates.

Therapeutically, Alessandro has active support across several areas. Physiotherapy runs through school — a dedicated practice works with him on-site — and focuses on his hypotonic muscle tone, postural difficulties, and coordination. Ergotherapie supports fine motor skills and daily function. Psychomotorik runs weekly in a small group at school. The UKE Familienambulanz team provides ongoing consultation and support for the family.

The one significant gap is Logopädie — speech and language therapy. Alessandro has an active diagnosis of expressive language delay, and Logopädie is the therapy most directly aimed at it. He had a therapist during the previous school year; that ended, and finding a new provider has been genuinely hard. Waiting lists for Logopädie in Hamburg are long — and the picture is harder still for children with complex needs, where the therapy requires time, specialist knowledge, and experience that not every practice has. We have been searching for months. It remains unresolved. We name it here because other families in Germany will recognise this experience: the therapy your child needs most is often the one that is hardest to access.

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Resources we'd point other families to

Alessandro ist acht Jahre alt. Er lebt in Hamburg mit seinen Eltern — beide Italiener — seiner jüngeren Schwester Sveva und Shumba, ihrem Labrador. Er liebt die Avengers, mit Hulk als unangefochtenem Favoriten. Seine Lieblingsfarbe ist Grün. Er ist begeistert von Pesto — das er am liebsten auf alles tun würde — und von Pommes frites. Er liebt Bücher, je größer desto besser, und trägt sie gerne überall mit sich. Er ist auch einer der herzlichsten Menschen, die man kennenlernen kann. Er hat außerdem das Dravet-Syndrom, eine seltene und schwere Form der Epilepsie. Dies ist unser Bericht darüber, was das für ihn — und für uns — bedeutet hat.

Wo wir heute stehen

Alessandro ist seit März 2022 anfallsfrei. Er nimmt zwei Medikamente — Fintepla (Fenfluramin) und Orfiril Long (Valproat) — und ist seit über drei Jahren stabil auf dieser Kombination. Das ist keine Heilung. Das Dravet-Syndrom verschwindet nicht. Aber es ist eine Stabilität, die wir uns einst nicht vorstellen konnten — und die nach Jahren kam, die wirklich brutal waren.

Der Anfang — Italien, 2018

Alessandros erster Anfall kam, als er gerade viereinhalb Monate alt war — etwa zwanzig Minuten nach einer routinemäßigen Meningitis-Impfung. Es war unauffällig: leichte Augenbewegungen und eine Kopfdrehung — keine dramatischen Krämpfe, wie man sie von einem Anfall erwartet, weshalb es uns nicht sofort als epileptischen Anfall erschien. Wir haben es dennoch nicht abgetan. Die Häufigkeit, mit der es sich wiederholte, ließ uns keine andere Wahl. Noch im selben Monat wurde Epilepsie diagnostiziert.

Der frühe Behandlungsansatz — geleitet von einem Spezialisten in Florenz, der bereits umfangreiche Erfahrung mit Dravet hatte — war Stiripentol (Diacomit) kombiniert mit Clobazam (Frisium). Schon damals, bevor eine genetische Ursache gesichert war, wurde Fintepla als möglicher nächster Schritt erwähnt, falls die aktuelle Therapie nicht halten würde. Diese Information wurde abgelegt. Es sollte noch vier weitere Jahre dauern, bis sie relevant werden würde.

Im Juli 2018, als Alessandro sechs Monate alt war, hatte er seinen ersten dokumentierten Status epilepticus (SE). Er war febril — durch Fieber ausgelöst — und biphasisch. Er erlitt während einer Autofahrt zu Hause etwa zwanzig Minuten lang einen Anfall, hörte kurz auf, als er das Krankenhaus erreichte, und begann dann auf der Kinderstation erneut. Der Anfall hörte nicht von selbst auf. Er brauchte intensivmedizinische Versorgung, wurde aber nicht intubiert und atmete selbstständig.

Umzug nach Hamburg — und eine Diagnose, die in der Schwebe blieb

Wir zogen Ende November 2018 nach Hamburg. Alessandro war zehn Monate alt. Seine Behandlung wurde an das neuropädiatrische Team des UKE (Universitätsklinikum Hamburg-Eppendorf) übergeben.

Hier ist etwas Wichtiges zu verstehen, das auf viele Familien zutrifft: Die Dravet-Diagnose wurde in Hamburg nicht akzeptiert. Nicht zunächst, und nicht über Jahre.

Die italienischen Neurologen in Florenz hatten eine klinische Dravet-Diagnose allein aufgrund von Alessandros Anfallssemiologie gestellt. Als wir in Hamburg ankamen, sah das Bild für ein frisches Team jedoch anders aus. Alessandros Anfälle waren häufig aber kürzer, sprachen in der Regel auf Notfallmedikation an und zeigten nicht das katastrophale Status-epilepticus-Muster, das die Diagnose unverkennbar macht.

Dann kam die Genetik. Ende 2018 hatte das Florenzteam ein SCN1A-Gen-Panel angeordnet. Das Ergebnis kam negativ zurück. Was der Test unsichtbar übersehen hatte, war eine große Deletion in der regulatorischen Region von SCN1A — einem DNA-Abschnitt, der vor dem Gen selbst liegt und steuert, ob es sich einschaltet. Standard-Genpanels lesen diese Region nicht. Exom-Sequenzierungen lesen diese Region nicht. Der einzige Test, der sie erfassen kann, ist die Ganzgenom-Sequenzierung — und die sollte erst sieben Jahre später stattfinden.

Die schlimmste Zeit — Oktober 2020 bis Februar 2021

In einem Zeitraum von vier Monaten hatte er sechs Status-epilepticus-Episoden. Einige erforderten Intubation und maschinelle Beatmung, mehrere Intensivaufnahmen. Einige wurden durch Virusinfektionen ausgelöst; eine kam ohne Fieber. Er überlebte jede einzelne und kam jedes Mal nach Hause — aber dieser Zeitraum hat unsere ganze Familie auf eine Weise geprägt, die einfach nicht verschwindet.

Mitten in diesem Cluster schrieb das UKE-Team zum ersten Mal, dass das klinische Bild am ehesten einem „Dravet-Syndrom entspricht." Nicht bestätigt. Nicht definitiv. Aber benannt. Es hatte sechs Intensivaufnahmen gebraucht, um diese Schwelle zu überschreiten.

Was wir über Alessandros Anfälle gelernt haben

• Virusinfektionen waren fast immer der Auslöser — Rhinovirus, Enterovirus, Bocavirus. Jedes Fieber, selbst ein mildes, bedeutete ein echtes Risiko.
• Anfälle begannen typischerweise fokal — Blickdeviation, veränderte Atmung, eingeschränkte Reaktionsfähigkeit. Das Fehlen sichtbarer Zuckungen bedeutet nicht, dass der Anfall nicht ernst ist.
• Buccolam wirkte zu Hause oft nur teilweise. Wir lernten, nach der ersten Dosis nicht abzuwarten — schnell ins Krankenhaus zu kommen war die richtige Entscheidung.
• Das Zeitfenster zählt. Je länger ein Anfall andauert, desto schwieriger ist er zu stoppen. Frühes Eskalieren hat ihm das Leben gerettet.

Der Wendepunkt — März 2022

Am 5. März 2022 hatte Alessandro seinen achten dokumentierten SE. Er kam aus dem Schlaf, ohne Fieber. Prolongierte Apnoe und Aspirationsgefahr. Erneut Intensivaufnahme.

Diese Episode überschritt schließlich eine Schwelle. Fintepla (Fenfluramin) — das Medikament, das bereits 2018 in Florenz als möglicher nächster Schritt genannt worden war — wurde begonnen. Es wirkte.

Alessandro ist seit März 2022 anfallsfrei. Seine aktuelle Dosis — Fintepla 2,4 ml zweimal täglich, Orfiril Long 300 mg zweimal täglich — ist stabil geblieben. Wir wissen nicht, ob die anfallsfreie Zeit anhalten wird. Wir nehmen sie nicht als selbstverständlich hin. Aber sie ist real.

Seine aktuellen Medikamente — erklärt

Notfallmedikation

Buccolam (Midazolam bukkal)

Buccolam ist unser Erstlinien-Notfallmedikament, bukkal verabreicht. Wir verwenden die Dosis von 7,5 mg.

Wir geben es sofort, beim allerersten Zeichen eines Anfalls, ohne zu warten. Das Risiko eines prolongierten Anfalls ist weit größer als das Risiko, eine Dosis zu geben, die sich im Nachhinein als nicht zwingend notwendig herausstellt.

Wir rufen den Rettungswagen im selben Moment, in dem wir das Buccolam geben — nicht danach. Selbst wenn der Anfall aufhört, bevor der Rettungswagen eintrifft, fährt Alessandro trotzdem ins Krankenhaus. Jedes Mal, ohne Ausnahme. Wenn eine zweite Dosis notwendig ist, kann diese nur vom medizinischen Personal verabreicht werden.

Fieberprotokoll — und warum es schwieriger ist als es klingt

Fieber war Alessandros beständigster Auslöser. Der Standardrat — „frühzeitig Antipyretika geben" — ist richtig, aber unvollständig. Alessandros Anfälle wurden durch den plötzlichen Anstieg der Temperatur ausgelöst. Das Zeitfenster zwischen „er scheint etwas warm" und „der Anfall hat bereits begonnen" war manchmal nur Minuten.

Fiebermanagement bei Dravet ist, bevor ein wirksames Anfallsmedikament vorhanden ist, wirklich schwierig. Andere Familien verdienen es, das zu hören — anstatt das Gefühl zu haben, versagt zu haben, weil ein Anfall trotz aller Bemühungen auftrat.

Die genetische Antwort — siebeneinhalb Jahre später

Im März 2026 ergab die Ganzgenom-Sequenzierung am UKE Hamburg die Antwort: eine große Deletion in der 5′UTR-Promotorregion von SCN1A. Alessandros Kopie dieser Region war defekt — von Geburt an.

Standard-Gentests lesen diesen Teil des Genoms nicht. Gen-Panels decken ihn nicht ab. Exom-Sequenzierungen decken ihn nicht ab. Nur die Ganzgenom-Sequenzierung liest das gesamte Genom, einschließlich dieser Regionen.

Die früheren Tests waren nicht falsch. Sie taten genau das, wofür sie konzipiert wurden. Für andere Familien: Wenn Ihr Kind ein klinisches Dravet-Bild hat und Gentests negativ waren, fragen Sie Ihren Neurologen gezielt nach der Ganzgenom-Sequenzierung.

Die Vererbung — Mosaizismus in der Familie

Alessandros Vater trägt dieselbe SCN1A-5′UTR-Deletion — aber nur in ungefähr 20% seiner Zellen. Somatischer Mosaizismus. Seine eigene Kindheitsepilepie war milder und klang in der Adoleszenz ab.

Dieselbe SCN1A-Variante kann bei einer Person einen vollständigen Dravet-Phänotyp und bei einer anderen eine viel mildere GEFS+-ähnliche Epilepsie erzeugen. Wenn Ihr Kind einen Dravet-Phänotyp hat, Sie ein negatives Exom hatten und ein Elternteil eine Anfallsgeschichte hat: Fragen Sie nach der Ganzgenom-Sequenzierung.

Kita — und alles vor der Schule

Die Suche nach einem Kita-Platz für Alessandro dauerte länger als sie hätte müssen. Hamburg hat lange Wartelisten in normalen Zeiten; COVID verlängerte sie weiter. Als wir endlich einen Platz fanden, war er weit über das Alter, in dem die meisten Kinder anfangen.

Die erste Kita erforderte eine Pflegekraft vor Ort, um im Anfallsfall Notfallmedikation zu verabreichen. Die Krankenkasse genehmigte die Kosten. Was folgte, waren Monate der Suche nach einem Pflegedienst mit verfügbarem Personal. Der Dienst, den wir schließlich fanden, setzte jemanden mit weniger Erfahrung ein. Diese Person verließ die Stelle aus eigenen Gründen, und weder die Krankenkasse noch wir konnten Ersatz finden. Die Kosten waren genehmigt. Der Anbieter existierte nicht.

Als Alessandro in der Kita einen Anfall hatte — nur einen einzigen — schränkte die Leitung seine Anwesenheitszeit auf drei Stunden täglich ein. Meine Frau verbrachte einen Großteil dieser Zeit auf dem Parkplatz vor der Kita — weil das Zeitfenster zwischen einem Anruf und einem laufenden Anfall zu kurz für alles andere war.

Das änderte sich mit Fintepla. Wir fanden eine Inklusionskita, wo Alessandro einfach zur Gruppe gehörte — bekannt, akzeptiert, wirklich einbezogen. Der letzte Abschnitt der Kita-Zeit war besser als alles, was davor kam.

Schule — Hinsbleek

Alessandro begann im August 2024 mit der Schule. Nach unserem Umzug im Februar 2025 wechselte er zur Schule Hinsbleek — einer Förderschule in Hamburg — und es war von Anfang an der richtige Ort.

Bei Hinsbleek hat Alessandro etwas, das mehr zählt als jedes Dokument: eine Lehrerin, die ihn gut kennt, erfahren mit Kindern ist, die das brauchen was er braucht, und die wirklich für ihn sorgt. Die anderen Kinder sind ihm gegenüber auf eine stille Art beschützend. Er gehört dazu.

Im Januar 2026 wurde sein Pflegegrad von 2 auf 3 angehoben. Diese Einstufung ermöglichte eine ganztägige 1:1-Schulbegleitung — eine feste Begleitperson, die Alessandro den gesamten Schultag begleitet, einschließlich Pausen und Übergängen, auf Anfallszeichen achtet und sein Notfallmedikament dabei hat.

Das eine strukturelle Problem: Hinsbleek bietet Physiotherapie direkt in der Schule an — das ist ausgezeichnet. Aber Ergotherapie und Logopädie müssen extern organisiert werden.

Der Hort — und ein Kampf, der es wert war

Der GBS (Ganztagsbetreuung bis 16:00 Uhr) lief zu Beginn nicht reibungslos. Einige Verhaltensweisen von Alessandro wurden falsch gedeutet. Ohne uns zu konsultieren, reduzierte der Hort seine erlaubten Stunden von 16:00 auf 15:00 Uhr — einseitig.

Wir haben das nicht akzeptiert. Wir haben eine formelle Beschwerde eingereicht und uns dabei auf die Lebenshilfe Hamburg (LmB HH) gestützt, die uns mit der Ombudsstelle für inklusive Bildung in Kontakt gebracht hat. Diese Unterstützung war entscheidend dafür, dass wir überhaupt den richtigen Kanal gefunden haben. Nach mehreren Gesprächen machte die Hort-Leitung konkrete Änderungen: eine Umstrukturierung des Personals, um Alessandro bis 16:00 Uhr täglich eine dedizierte Betreuung zu gewährleisten.

Andere Familien in Deutschland werden dieses Muster kennen: ein System, das sich erst bewegt, wenn man es anschiebt. Sie haben jedes Recht dazu.

Entwicklung, Therapien und die Lücken dazwischen

Neben der Anfallsgeschichte lebt Alessandro mit einer deutlichen kognitiven Beeinträchtigung, einer Sprachentwicklungsverzögerung und motorischen Schwierigkeiten. Er ist zweisprachig in Italienisch und Deutsch — Italienisch ist die Sprache zu Hause — und sein Sprachverständnis ist deutlich stärker als das, was er ausdrücken kann.

Er kommuniziert herzlich und direkt, besonders mit Erwachsenen, die ihn kennen. Er mag Marvel, Star Wars, Musik.

Aktive Therapien: Physiotherapie in der Schule, Ergotherapie, Psychomotorik in der Schule, UKE Familienambulanz. Die eine bedeutende Lücke ist Logopädie. Alessandro hat eine aktive Diagnose einer expressiven Sprachentwicklungsverzögerung. Seine Therapeutin hat gewechselt, und einen neuen Anbieter zu finden ist wirklich schwer. Wartelisten in Hamburg sind lang. Wir suchen seit Monaten. Es bleibt ungelöst — und andere Familien in Deutschland werden diese Erfahrung kennen.

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Ressourcen, die wir empfehlen würden

Alessandro ha otto anni. Vive ad Amburgo con i suoi genitori — entrambi italiani — la sua sorellina Sveva e Shumba, il loro Labrador. Ama gli Avengers, con Hulk come favorito indiscusso. Il suo colore preferito è il verde. Va pazzo per il pesto — che metterebbe volentieri su tutto — e per le patatine fritte. Ama i libri, più sono grandi meglio è, e gli piace portarseli in giro con sé. È anche una delle persone più affettuose che si possano incontrare. Ha anche la Sindrome di Dravet, una forma rara e grave di epilessia. Questo è il nostro racconto di cosa ha significato per lui — e per noi.

Dove siamo oggi

Alessandro è senza crisi da marzo 2022. Assume due farmaci — Fintepla (fenfluramina) e Orfiril Long (valproato) — ed è stabile su questa combinazione da oltre tre anni. Non è una guarigione. La Sindrome di Dravet non scompare. Ma è una stabilità che una volta non riuscivamo nemmeno a immaginare, e che è arrivata dopo anni che sono stati davvero brutali.

L'inizio — Italia, 2018

La prima crisi di Alessandro è arrivata quando aveva appena quattro mesi e mezzo — circa venti minuti dopo una vaccinazione di routine contro la meningite. Era subdola: lievi movimenti oculari e rotazione del capo. Non sembrava la tipica crisi convulsiva — e proprio per questo non ci ha fatto pensare immediatamente a un'epilessia. Ma la frequenza con cui si ripresentava non ci ha lasciato molti dubbi. Noi non li abbiamo ignorati. Nello stesso mese è stata diagnosticata l'epilessia.

L'approccio terapeutico iniziale — guidato da uno specialista a Firenze già esperto in Dravet — era Stiripentol (Diacomit) combinato con Clobazam (Frisium). Già allora, prima di avere una causa genetica confermata, Fintepla era stata menzionata come possibile passo successivo. Nel luglio 2018, quando Alessandro aveva sei mesi, ha avuto il suo primo Stato Epilettico (SE) documentato — febbrile, bifasico. Si è fermato brevemente arrivando in ospedale, poi è ripreso. Non si è fermato da solo. Ha avuto bisogno di cure intensive, ma respirava autonomamente.

Il trasferimento ad Amburgo — e una diagnosi rimasta in sospeso

Ci siamo trasferiti ad Amburgo alla fine di novembre 2018. Alessandro aveva dieci mesi. Le sue cure sono passate al team di neuropediatria dell'UKE (Universitätsklinikum Hamburg-Eppendorf).

C'è qualcosa di importante da capire: la diagnosi di Dravet non è stata accettata ad Amburgo. Non subito, e non per anni.

I neurologi italiani a Firenze avevano fatto una diagnosi clinica di Dravet basandosi unicamente sulla semiologia delle crisi. Ad Amburgo, il quadro sembrava diverso. Le crisi erano frequenti ma più brevi, rispondevano alla terapia d'emergenza. Per un Dravet classico, la presentazione era considerata lieve.

Poi è arrivata la genetica. Il pannello genico SCN1A ha dato risultato negativo. Quello che il test aveva mancato era una grande delezione nella regione regolatoria di SCN1A — un tratto di DNA che si trova a monte del gene stesso. I pannelli standard non leggono quella regione. Solo il Sequenziamento dell'Intero Genoma può rilevarla — e quello sarebbe avvenuto solo sette anni dopo.

Il periodo peggiore — ottobre 2020 - febbraio 2021

In un arco di quattro mesi, Alessandro ha avuto sei episodi di Stato Epilettico. Alcuni hanno richiesto intubazione e ventilazione meccanica, diversi ricoveri in terapia intensiva. Alcuni erano scatenati da infezioni virali; uno è arrivato senza febbre. È sopravvissuto a tutti e ogni volta è tornato a casa — ma quel periodo ha lasciato un segno nell'intera nostra famiglia che semplicemente non scompare.

Nel mezzo di quel cluster, il team dell'UKE ha scritto formalmente per la prima volta che il quadro clinico era "più coerente con la sindrome di Dravet." Non confermato. Non definitivo. Ma nominato. Erano serviti sei ricoveri in terapia intensiva per attraversare quella soglia.

Quello che abbiamo imparato sulle crisi di Alessandro

• Le infezioni virali erano quasi sempre il fattore scatenante — Rhinovirus, Enterovirus, Bocavirus. Qualsiasi febbre, anche lieve, comportava un rischio reale.
• Le crisi iniziavano tipicamente in modo focale — deviazione dello sguardo, respirazione anomala, ridotta reattività. L'assenza di tremori visibili non significa che la crisi non sia seria.
• Il Buccolam a casa spesso funzionava solo parzialmente. Abbiamo imparato a non aspettare dopo la prima dose — arrivare in ospedale rapidamente era la scelta giusta.
• La finestra temporale conta. Più a lungo dura una crisi, più è difficile fermarla. L'escalation precoce lo ha salvato.

Il punto di svolta — marzo 2022

Il 5 marzo 2022 Alessandro ha avuto il suo ottavo SE documentato. È arrivato nel sonno, senza febbre. Apnea prolungata e rischio di aspirazione. Un altro ricovero in terapia intensiva.

Quell'episodio ha finalmente fatto superare una soglia. Fintepla (fenfluramina) — il farmaco che era già stato indicato come possibile passo successivo a Firenze nel 2018 — è stato avviato. Ha funzionato.

Alessandro è senza crisi da marzo 2022. La sua dose attuale — Fintepla 2,4 ml due volte al giorno, Orfiril Long 300 mg due volte al giorno — è rimasta stabile. Non sappiamo se durerà. Non lo diamo per scontato. Ma è reale.

I suoi farmaci attuali — spiegati

Farmaco d'emergenza

Buccolam (midazolam buccale)

Il Buccolam è il nostro farmaco d'emergenza di prima linea, somministrato per via buccale. Usiamo la dose da 7,5 mg.

Lo somministriamo immediatamente, al primissimo segno di una crisi, senza aspettare. Il rischio di una crisi prolungata è di gran lunga maggiore del rischio di somministrare una dose che alla fine non era strettamente necessaria.

Chiamiamo l'ambulanza nello stesso momento in cui somministriamo il Buccolam — non dopo. Anche se la crisi si ferma prima che arrivi l'ambulanza, Alessandro va comunque in ospedale. Ogni volta, senza eccezioni. Se fosse necessaria una seconda dose, questa può essere somministrata solo dal personale medico.

Protocollo per la febbre — e perché è più difficile di quanto sembri

La febbre era il fattore scatenante più costante di Alessandro. Le crisi erano scatenate dall'improvviso aumento della temperatura. La finestra tra "sembra un po' caldo" e "la crisi è già iniziata" era a volte di minuti.

La gestione della febbre nel Dravet, prima di avere un farmaco efficace, è davvero difficile. Gli antipiretici precoci sono l'istinto giusto ma non una prevenzione affidabile. Le altre famiglie meritano di sentirlo — invece di sentirsi in colpa perché una crisi è avvenuta nonostante i loro sforzi migliori.

La risposta genetica — sette anni e mezzo dopo

Nel marzo 2026, il Sequenziamento dell'Intero Genoma all'UKE di Amburgo ci ha dato la risposta: una grande delezione nella regione promotrice 5′UTR di SCN1A — il tratto regolatorio del DNA che controlla se il gene si attiva. La copia di Alessandro era difettosa dalla nascita.

I test genetici standard non leggono quella parte del genoma. Solo il Sequenziamento dell'Intero Genoma legge l'intero genoma, incluse quelle regioni.

I test precedenti non erano sbagliati. Hanno fatto esattamente quello per cui erano stati progettati. Se vostro figlio ha un quadro clinico di Dravet e i test genetici sono risultati negativi, chiedete al vostro neurologo del Sequenziamento dell'Intero Genoma.

L'ereditarietà — mosaicismo nella famiglia

Il padre di Alessandro porta la stessa delezione 5′UTR di SCN1A — ma solo in circa il 20% delle sue cellule. Mosaicismo somatico. La sua propria epilessia infantile era più lieve e si è risolta in adolescenza.

La stessa variante SCN1A può produrre un fenotipo Dravet completo in una persona e un'epilessia molto più lieve in un'altra. Se vostro figlio ha un fenotipo Dravet, avete avuto un esoma negativo e un genitore ha una storia di crisi: chiedete del Sequenziamento dell'Intero Genoma.

Kita — e tutto prima della scuola

Trovare un posto al nido per Alessandro ha richiesto più tempo del dovuto. Amburgo ha lunghe liste d'attesa in tempi normali; il COVID le ha allungate ulteriormente. Quando abbiamo finalmente trovato un posto, aveva già superato di gran lunga l'età in cui la maggior parte dei bambini inizia.

Il primo Kita richiedeva un'infermiera presente per somministrare il farmaco d'emergenza. L'assicurazione sanitaria ha approvato i costi. Quello che è seguito sono stati mesi di ricerca per trovare un'agenzia con qualcuno disponibile. L'agenzia che abbiamo trovato ha collocato qualcuno con meno esperienza; quella persona ha lasciato per ragioni proprie, e non abbiamo trovato un sostituto. I costi erano approvati. Il fornitore non esisteva.

Quando Alessandro ha avuto una crisi al nido — solo una — la responsabile dell'asilo ha limitato la sua frequenza a massimo tre ore al giorno. Mia moglie trascorreva gran parte di quel tempo nel parcheggio fuori dal Kita — perché la finestra tra una telefonata e una crisi in corso era troppo breve per qualsiasi altra cosa.

Le cose sono cambiate con Fintepla. Abbiamo trovato un Asilo Inclusivo dove Alessandro faceva semplicemente parte del gruppo — conosciuto, accettato, davvero incluso. È stata un'esperienza completamente diversa.

Scuola — Hinsbleek

Alessandro ha iniziato la scuola nell'agosto 2024. Dopo il nostro trasferimento nel febbraio 2025, è passato alla Schule Hinsbleek — una scuola che accoglie anche bambini con disabilità — ed è stato il posto giusto fin dall'inizio.

Ad Hinsbleek, Alessandro ha qualcosa che conta più di qualsiasi documento: un'insegnante che lo conosce profondamente, è esperta con i bambini che hanno bisogno di quello che ha lui, e si prende davvero cura di lui. Gli altri bambini sono protettivi nei suoi confronti nel modo silenzioso che a volte accade quando una classe conosce davvero qualcuno. Lui appartiene lì.

Nel gennaio 2026, il suo livello di assistenza è stato aumentato da 2 a 3. Questo ha aperto la strada a un'assistenza scolastica dedicata a tempo pieno 1:1 — un accompagnatore che segue Alessandro durante l'intera giornata scolastica, incluse le pause, monitora i segnali di crisi e porta il farmaco d'emergenza.

Il problema strutturale: Hinsbleek offre fisioterapia direttamente a scuola — ottima. Ma ergoterapia e logopedia devono essere organizzate esternamente, il che significa navigare da soli le liste d'attesa di Amburgo.

Il Hort — e una battaglia che valeva la pena combattere

Il GBS (il programma pomeridiano fino alle 16:00) non è andato liscio all'inizio. Alcuni comportamenti di Alessandro sono stati fraintesi. Senza consultarci, il Hort ha ridotto le sue ore autorizzate alle 15:00 — unilateralmente.

Non lo abbiamo accettato. Abbiamo presentato un reclamo formale, e in questo percorso ci ha supportato la Lebenshilfe Hamburg (LmB HH), che ci ha messo in contatto con l'ombudsman per l'istruzione inclusiva. Senza quel contatto, navigare il processo sarebbe stato molto più difficile. Dopo numerose riunioni, la direzione della scuola ha riorganizzato il personale in modo che l'Hort potesse garantire una supervisione continua di Alessandro fino alle 16:00.

Altre famiglie riconosceranno il pattern: un sistema che non si muove finché non viene spinto. Avete tutto il diritto di spingere.

Sviluppo, terapie e le lacune nel mezzo

Oltre alla storia delle crisi, Alessandro vive con una significativa compromissione cognitiva, un ritardo nello sviluppo del linguaggio espressivo, e difficoltà motorie. È bilingue in italiano e tedesco — l'italiano è la lingua di casa — e la sua comprensione è significativamente più forte di quello che riesce ad esprimere.

Comunica in modo caloroso e diretto, soprattutto con gli adulti che lo conoscono. Gli piace quello che gli piace: Marvel, Star Wars, la musica.

Terapie attive: fisioterapia a scuola, ergoterapia, psicomotricità a scuola, consultazioni UKE Familienambulanz. La lacuna significativa è la logopedia. Alessandro ha una diagnosi attiva di ritardo nello sviluppo del linguaggio espressivo. La sua terapista è cambiata e trovare un nuovo fornitore è davvero difficile. Le liste d'attesa ad Amburgo sono lunghe — e il quadro è più difficile per i bambini con bisogni complessi. Stiamo cercando da mesi. Rimane irrisolto. Lo nominiamo perché altre famiglie in Germania riconosceranno questa esperienza.

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Risorse che consigliamo alle altre famiglie