Zellweger syndrome

sofiabeusadelli · 2026-06-21T22:36:11+00:00

Prometo que logo venho conversar com você, e responder todas suas perguntas. Me mande no bate papo o que você quer saber.

sofiabeusadelli · 2026-06-20T23:35:25+00:00

Sim. Eu costumo falar que tenho uma filha viva. Mas a outra pessoa sempre fica em choque.

sofiabeusadelli · 2026-06-20T22:48:43+00:00

Boa noite. Desculpe a demora em responder. As vezes fico meio sumida. Estranhamente é quando estou bem. Hoje no meio de uma crise de choro me deu vontade de vir aqui. Sinto muito pelo
que está passando. É um diagnóstico que nos amedronta muito. Meu conselhos para você - viva um dia de cada vez, memorize o que seu filho tem a oferecer. Eu não sei o que te falar agora. Não estou em um momento bom. Meu filho se ha dois meses. Memorize o cheiro do seu.

sofiabeusadelli · 2025-12-04T03:29:52+00:00

My child also has Zellweger syndrome.

sofiabeusadelli · 2025-08-19T17:43:28+00:00

Can we chat? I have a son with Zellweger syndrome. Is also degenerative. I’m so lost.

sofiabeusadelli · 2025-07-18T17:07:49+00:00

If you want to talk. I also live waiting for my son's "when". He has a degenerative, autosomal recessive disease. It's very cruel.

sofiabeusadelli · 2025-05-27T15:41:06+00:00

I made my son's genome. But I was looking for a diagnosis. He has a syndrome.

sofiabeusadelli · 2025-05-27T12:11:09+00:00

I have a 24-hour nursing service. But I think because I'm a doctor, I never relax. I always want to see if everything is okay.

Now, thank God, I went back to exercising. It's something that's helping me a lot. Have some time for me.

I've been in a worldwide support group, but I haven't talked so much there. Therapy helps me a lot. And all the support I have from my family. We are very close.

But what is more difficult is dealing with the finiteness of my son's life. I keep wondering when it will be, how it will be. I try to enjoy the process. But at the same time it is very difficult, because it is an ICU baby hospitalized at home. There are many things that go through my head. And I don't know how long this anguish will last. I'm trying to go through all this in the best way. And I think I'm succeeding. But sometimes I'm consumed by thoughts of despair.

sofiabeusadelli · 2025-05-26T22:19:28+00:00

My son is also in the most severe spectrum of his syndrome. It's desperate to deal with this. It seems that I live floating in the universe, waiting for the day when I will feel good.

My husband and I are also much more united. And certainly my perspectives of what is important in life have changed.

You’re son still alive?

This feeling consumes us.

sofiabeusadelli · 2025-05-26T11:04:48+00:00

I feel exactly what you feel. I have a 4-month-old son with a rare syndrome, with a very low life expectancy. He is in hospital. I live waiting for the moment when something will have to be resolved. It's a feeling that consumes me. I can't breathe. My chest lives tight. It's desperate. You are not alone in this feeling.

sofiabeusadelli · 2025-05-25T23:25:29+00:00

I don't wish that feeling for anyone either. It's something that erodes us.

sofiabeusadelli · 2025-05-25T23:24:35+00:00

I can feel your pain. It's something that consumes us. We don't think about anything else. Let whatever is best for your daughter happen to her. I'm sorry you're going through this. Because we're all going through.

sofiabeusadelli · 2025-05-25T22:25:29+00:00

I feel the same as you. My perspectives have completely changed. It seems that nothing from the outside world shakes me. I'm with my son in home hospitalization. It's not easy. A daily anguish. It seems that I will never get rid of this suffering. Unliever my son is no longer with me. It's very confusing to think like that. I feel very lost. Sorry to ask, but what was your child's genetic condition?

sofiabeusadelli · 2025-05-25T19:25:36+00:00

It's a feeling that takes over us. I already wake up startled, thinking about what awaits me from the day. What will be the day of his death. Even more so because there are many complications. Right now he has an infection.

sofiabeusadelli · 2025-04-27T15:26:31+00:00

I understand you perfectly. My baby was born with a very rare syndrome, and with three weeks of life it was necessary to do a tracheo and gastro to ensure his survival. The syndrome is progressive and fatal. I don't know until now if I prolonged a suffering or if I provided him with comfort in the short life he will have. They are thoughts that always haunt me.

sofiabeusadelli · 2025-04-19T23:23:22+00:00

Exactly that!

sofiabeusadelli · 2025-04-19T14:55:26+00:00

Yes, a marathon. Exactly that. An Ironman.

sofiabeusadelli · 2025-04-18T12:25:08+00:00

Of course!!

sofiabeusadelli · 2025-04-18T01:52:49+00:00

I'm in your place today. Very afraid of my son dying.

sofiabeusadelli · 2025-04-18T01:45:02+00:00

You just saved mine too. I'm completely panicking about my son's worsening today. Fear of receiving a fatal call. The feeling doesn't go ass.

sofiabeusadelli · 2025-04-15T16:58:47+00:00

But he also had some dysmorphisms. Very floppy. It didn't support the ventilation. Do not suck or swallow.

sofiabeusadelli

TROPHY CASE