Forum Le Forum maladies rares

Coucou à tous, Ma fille a 16 ans, myopathie rare diagnostiquée il y a 4 ans, et depuis quelques mois sa mobilité a encore baissé. Elle utilisait un déambulateur à la maison et au lycée mais le kiné du centre de référence qui la suit depuis le début nous a proposé d'essayer les cannes anglaises avant de passer au fauteuil, au moins pour les trajets plus longs genre entre les salles de cours. Franchement on hésitait, parce qu'un déambulateur ça rassure, y a moins de risque de chute. Mais bon on a tenté le coup il y a environ deux mois. Le kiné a fait l'ordonnance direct, et après on a fini par commander les cannes anglaises d'Orvimed parce qu'elles sont réglables, ça compte vu qu'elle grandit encore un peu. La sécu a pris en charge une partie sur prescription, pas tout mais ça aide quand meme. Au quotidien ça change pas mal de choses, elle est plus à l'aise pour les portes étroites par exemple, le déambulateur ça prenait toute la place dans les couloirs du lycée. Du coup je me demandais si d'autres parents ici sont passés par cette étape là, avec une myopathie ou autre chose. Enfin. Comment vous avez géré le passage entre les deux appareils? Et surtout est ce que vos enfants s'y sont fait facilement ou ça a pris du temps. Merci d'avance pour vos retours.

We're comparing apartments for a short family trip to Tenerife and keep coming back to Playa de las Americas. The area looks convenient, but listings that appear similar can be very different once I look at their exact location. I searched are there any holiday rentals available in playa de las americas, canary islands, spain? and found plenty of results, so availability alone doesn't help us choose. What matters most is an easy walk for meals, a practical route to the beach, and a place where evenings aren't dominated by noise. A listing doesn't always explain the route from the building to the promenade or whether the bedroom faces a busy street. Before booking I'll compare recent guest comments, the exact map pin, and whether the stated sleeping arrangements really work for our group. Is it reasonable to ask about street-facing rooms and late-evening noise before paying, or is there another detail visitors often miss? We won't have a car every day so a manageable uphill return matters more to us than a slightly better view. I'm also curious about which nearby streets feel calmer while still being convenient for a family arriving after a flight. If you know the area well, what checks helped you avoid a poor fit, and which listing details turned out to matter most in practice?

I am looking for a first levada walk in Madeira, but route length alone does not tell me whether it will be comfortable. I am fine with a steady half-day hike, yet narrow paths beside steep drops are a different matter for me. Several routes seem to include tunnels, and I am not sure how much light or headroom to expect. I have looked through best levada walks in madeira but I would rather choose by conditions than by a ranking. When the forecast changes quickly, I assume a route can feel quite different from its photos. Is there a useful way to check current trail access and decide whether to postpone instead of pressing on? The return journey is also part of the decision, because I will not have a car and would prefer not to rely on an uncertain pickup. I would welcome a suggestion for an easier first walk, plus any warning signs that would make you choose a different day or trail. Even a familiar trail could be unsuitable in poor weather.

We're comparing apartments for a short family trip to Tenerife and keep coming back to Playa de las Americas. The area looks convenient, but listings that appear similar can be very different once I look at their exact location. I've been checking are there any holiday rentals available in playa de las americas, canary islands, spain? and found plenty of results, so availability alone doesn't help us choose. We would like an easy walk for meals, a practical route to the beach, and a place where evenings aren't dominated by noise. The photos rarely show the route from the building to the promenade or whether the bedroom faces a busy street. I plan to check recent guest comments, the exact map pin, and whether the stated sleeping arrangements really work for our group. Would you ask the host about street-facing rooms and late-evening noise before paying, or is there another detail visitors often miss? We won't have a car every day so a manageable uphill return matters more to us than a slightly better view. I'm also curious about which nearby streets feel calmer while still being convenient for a family arriving after a flight. If you booked there recently, what checks helped you avoid a poor fit, and which listing details turned out to matter most in practice?

I have one uncommitted day during a stay in Funchal and am wondering whether a day trip to Porto Santo would feel worthwhile without turning into a transport exercise. The ferry is still only an idea, so I can compare the current timetable with the forecast before deciding. I am trying to judge the usable hours ashore, once the journey to the port and boarding time are included. I would be content with a beach stroll and a meal, rather than attempting a full sightseeing circuit in a few hours. I know the operator's current schedule is the place to confirm departures, and I would also look at any weather or service notice close to the date. While looking for current island reports I found madeira island news though an article cannot replace a live ferry notice. Would you book only when the forecast is clearer? I can spend the day on Madeira instead if the crossing looks uncertain or the time ashore is too short. I am particularly interested in the return trip, including how easily someone without a car can get back to central Funchal. It would be useful to hear from anyone who made this trip recently.

I have a free morning in Madeira and would like to spend it at one landscape viewpoint rather than moving between several stops for photographs. I will be staying in Funchal and using public transport, which makes the journey back as important as the view itself. I do not need a sunrise location, and I would prefer a place where I can walk safely and wait if a cloud passes through. Some dramatic viewpoints appear easy on a map, but a steep final road or infrequent bus could make the outing much longer than expected. I would take an accessible place over the most spectacular photograph, especially if conditions higher up are unsettled. For an initial shortlist I looked at 3 days in madeira without a car but I am checking individual routes instead of assuming every suggested stop works by bus. Would you stay near Funchal for this kind of morning? A short taxi ride for the last section is possible, although I would still want a clear way to return. I can adjust the day if cloud covers the hills, and I would check current access information before setting off. Any recent transport details would help me make a realistic choice.

I am returning to Madeira after a few years away and have noticed that many bookmarked travel guides still describe the island as I remember it. Before fixing an itinerary I want recent information, especially around access to walks, transport, and events in Funchal. I have been scanning madeira island news alongside official notices and recent visitor reports. A local update can point to something worth checking, but it rarely tells me whether a particular plan is affected on the day I travel. A road closure might matter greatly for one route and not at all for another. I would leave room for an alternative each day rather than building a schedule around a single viewpoint or hike. Which official notices would you check first and then use local reports to understand the wider context? I would also like to know when to recheck, so I can make sensible reservations without treating every old recommendation as current. What sources have repeat visitors found useful without spending the whole holiday refreshing updates?

Bonjour à tous, Je reviens après quelques semaines. Merci à Termi pour sa réponse. Aux derniers postes qui demandaient un témoignage avec des symptômes ayant démarré depuis quelques temps, les miens ont commencé en août 2024 (fasciculations dans le corps et sensations de faiblesse aux jambes et bras). J’ai eu deux EMG en août 2024 et mars 2025. Le neurologue était confiant sur le fait qu’il ne s’agissait pas d’une SLA. Les symptômes s’étaient calmés entre mai 2025 et avril 2026, puis sont revenus de plus belle (mollet douloureux et sensation de faiblesse autour du genou droit et faiblesse à la main gauche avec difficulté à écrire, étant gaucher). Je n’ai pas envie d’entreprendre de nouveaux examens, ça me terrifie en réalité. Certains jours sont difficiles, mais je me raccroche à ce que m’avait dit le neurologue il y a plus d’un an maintenant, et au fait que j’arrive encore à faire du sport.

We're comparing apartments for a short family trip to Tenerife and keep coming back to Playa de las Americas. The area looks convenient, but listings that appear similar can be very different once I look at their exact location. I searched are there any holiday rentals available in playa de las americas, canary islands, spain? and found plenty of results, so availability alone doesn't help us choose. We would like an easy walk for meals, a practical route to the beach, and a place where evenings aren't dominated by noise. The photos rarely show the route from the building to the promenade or whether the bedroom faces a busy street. I'm already looking at recent guest comments, the exact map pin, and whether the stated sleeping arrangements really work for our group. Should I confirm directly about street-facing rooms and late-evening noise before paying, or is there another detail visitors often miss? We expect to walk most days so a manageable uphill return matters more to us than a slightly better view. I'm also curious about which nearby streets feel calmer while still being convenient for a family arriving after a flight. If you know the area well, what checks helped you avoid a poor fit, and which listing details turned out to matter most in practice?

Bonjour, Mon fils Paul (bientôt 7ans) vient d'être diagnostiqué il y a un mois comme souffrant de cette mutation dans le gène SETD1B. Les recherches génétiques ont été lancées principalement car Paul souffre depuis un peu plus de 2 ans d'une épilepsie abscence atypique. il pouvait avoir plusieurs dizaines d'absences, plus ou moins longues par heure malgré les différents médicaments essayés, il semble qu'elle soit pharmacorésistante, en effet, en général au bout de 2-3 mois d'un nouveau médicament, les absences reprennent et il faut rechanger. Les autres symptômes sont un retard intellectuel léger, un trouble de l'attention de type TDAH mais tout ça est encore en attente de diagnostic définitif. Pas de gros problèmes niveau motricité, même s'il n'est pas très à l'aise en motricité fine. Peut-être est-ce du aussi au fait qu'il est suivi par une psychomotricienne depuis ses 3ans. Niveau langage il a des difficultés mais légères, il parle plutôt bien, même beaucoup. il est suivi aussi depuis ses 3ans. Pour les troubles du sommeil, depuis quelques temps c'est plus compliqué mais nous ne savons pas si c'est dû à la maladie ou au traitement médical pour l'épilepsie. Actuellement, nous avons beaucoup de difficultés à obtenir des réponses et des rendez-vous avec des spécialistes. 8 mois d'attente pour un pedopsychiatre à l'hôpital Clocheville à Tours, alors même que la maladie est officielle. Comment voulez vous avancer dans les recherches sur cette maladie quand on ne peut même pas "

Bonjour Ophélie, Ma fille avait des symptômes très similaires à votre enfant à 2 ans et demi. Elle a fait ses 3 années de maternelle et a à six ans, elle a intégré un IME. Elle avait beaucoup de difficulté à parler mais la prise en charge en orthophonie l’a beaucoup aidé. Elle a 28 ans actuellement et elle est toujours suivie en orthophonie. Par contre, elle n’arrête pas de parler. Depuis ses 18 ans elle va dans un centre occupationnel de jour et elle est très heureuse. Elle présente toujours un retard mental et des difficultés pour s’habiller…. La présence d’un adulte est indispensable pour sa vie quotidienne. Ma fille a été diagnostiquée 22 ans mais la prise en charge a été précoce vers 3 ans au camps. Bon courage à vous Caroline

I am due for a hair appointment soon, so I am collecting a few realistic color ideas in advance. I recently started reading about color analysis because the tones I like in photos do not always look the same next to my face. It has been a long time since I last changed the color, and I want to go slowly. I may fit a cooler palette, but I would rather check that impression against real hair samples. My natural hair is medium brown, and I want a change that is noticeable without committing to constant upkeep. Photos of muted brown and darker blonde appeal to me, but salon lighting may be doing much of the work. I also know that a dye swatch can look different against skin, eyebrows, and the color already in the hair. Would you start with in person swatches rather than picking a shade from a screen? I can bring daylight photos and explain my maintenance budget. That seems more useful than asking for an exact shade number from a quiz. I can also ask about a strand test before committing to the whole head. If you have made a similar change, which small details helped you avoid a color that looked too flat or too harsh? Examples from people who started with medium brown hair would help me compare options.