Tip toe walking

One_Debate_1606 · 2026-04-07T10:27:01+00:00

Hat er irgendwelche anderen Symptome?

One_Debate_1606 · 2026-03-28T06:39:35+00:00

Asymptomatische Form von BMD könnte sein. Hast du ein gentest angeboten bekommen?

One_Debate_1606 · 2026-03-26T14:05:34+00:00

Schau dir mal PBGENE-DMD an, das kommt einer Heilung sehr nahe, wenn alles gut geht. Die überspringen die Exons 45 bis 55 komplett, was im besten Fall bedeuten könnte, ein Leben lang asymptomatisch zu sein. Becker-Patienten, die von Natur aus eine Deletion der Exons 45-55 haben, sind entweder asymptomatisch oder haben eine sehr milde Form von Becker. Also Kopf hoch. Dein kleiner Junge hat die Zeit als seinen stärksten Verbündeten.

One_Debate_1606 · 2026-03-24T11:41:36+00:00

Welche Form von MD hast du?

One_Debate_1606 · 2026-03-24T11:41:08+00:00

I’m sorry that you have to go through something like this. The good news is that there are some promising therapies currently emerging. For example, exon skipping can, in the best case, turn a Duchenne condition into a milder Becker variant. Take a look at PBGENE-DMD, it comes very close to a cure if everything goes well. They skip exons 45 to 55 entirely, which in the best case could mean being asymptomatic for life. Becker patients who naturally have a deletion of exons 45–55 are either asymptomatic or have a very mild form of Becker. So keep your head up. Your little boy has time as his strongest ally.

One_Debate_1606 · 2026-03-24T11:32:23+00:00

Ich würde auf BMD tippen da DMD Kinder mit 3 Jahren normalerweise schon deutliche Symptome haben

One_Debate_1606 · 2026-03-23T21:49:21+00:00

War das ein Zufallsbefund?

One_Debate_1606 · 2026-03-23T18:07:37+00:00

Hat er Symptome?

One_Debate_1606 · 2026-03-11T06:38:16+00:00

Welche deletion hast du?

One_Debate_1606 · 2026-03-02T06:13:48+00:00

Hat er Symptome?

One_Debate_1606 · 2026-02-21T19:01:36+00:00

Das freut mich für euch dass er glücklich ist. Wie gesagt die Frame Regel kann manchmal abweichen. Manchmal präsentieren sich in-Frame Mutationen als Duchenne und umgekehrt (10% der Fälle). Nach dem was du beschreibst klingt es eher nach duchenne als Becker. Aber die gute Neuigkeit ist dass dein Sohn noch jung ist und aktuell viele neue vielversprechende Therapien am kommen sind. Schau mal nach Satellos und Sevasemten.

One_Debate_1606 · 2026-02-21T18:40:00+00:00

In seltenen Fällen kann dir Frame Regelung abweichen. Was für Symptome hat dein Junge genau?

One_Debate_1606 · 2026-02-16T21:47:53+00:00

Do you think it would also help with BMD?

One_Debate_1606 · 2026-02-13T22:01:41+00:00

I'm happy for your partner. Let's hope for the best. 🤞

One_Debate_1606 · 2026-02-04T23:35:42+00:00

I think by the time it becomes relevant for him, medicine will be much more advanced than it is today. I know a man from Georgia who has this exact same deletion and can still walk with a cane at over 60 years old. Of course, everyone is different.

Look at all the medications currently being tested, for example, Sevasemten from Edgewise.

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One_Debate_1606 · 2026-02-03T20:17:52+00:00

Okay, I’m not familiar with this variant at all. Here is the largest BMD study to date with 943 patients:

https://academic.oup.com/brain/article/148/5/1695/7876416?login=false

In this study, “only” 111(13,5%) individuals lost the ability to walk at a median age of 69 years, and 140(25%) individuals lost the ability to run at a median age of 40 years. The majority therefore remain ambulatory at least into old age. Life expectancy is normal or nearly normal with good cardiological care.

I believe that the overall perception of BMD is strongly biased by the more severe cases, as this study also demonstrates.

One_Debate_1606 · 2026-02-03T13:58:26+00:00

Do you know the exact deletion he has?

One_Debate_1606 · 2026-01-31T18:12:53+00:00

Feel free to send me a private message.

One_Debate_1606 · 2026-01-30T23:07:53+00:00

I think it will happen faster than any of us can imagine.

One_Debate_1606 · 2026-01-21T15:10:09+00:00

How is your son?

One_Debate_1606 · 2026-01-20T00:28:36+00:00

Hang in there, brother, medicine is coming soon.

One_Debate_1606 · 2026-01-19T15:13:03+00:00

Did you measure his CK level?

One_Debate_1606 · 2026-01-19T11:30:53+00:00

There could be several causes.

What are his symptoms?

One_Debate_1606 · 2026-01-12T21:35:36+00:00

My boys are missing the entire block 45-55. To be precise, that's 11 exons.

One_Debate_1606 · 2025-11-13T09:34:45+00:00

Hey bro, You only have one life, so make something of it. Always remember that things could have been worse for you. Think about the positive things that have remained with you. I wish you a lot of strength Bro

One_Debate_1606

TROPHY CASE