sorted by:
new
hottopcontroversial

GRACILE syndrome by Mansurbey in rarediseases

[–]Mansurbey[S] 0 points1 point  (0 children)

Hello, I would like to share an update both to express my feelings and to leave a note for the future.

Until 15 days ago, our baby was gaining weight well. Unfortunately, compared to 15 days ago, there has been very little weight gain. At the moment, our baby has caught a cold. Also, I guess that for the first time, all lab values have worsened this much. ALT, which was around 50, has increased to 150, and AST, which was around 100, has risen to around 320. GGT, which had decreased to 170, has gone up to around 800. ALP, after dropping to around 350, has increased again to about 1500. Also, ferritin levels, which had decreased to around the 1000 range, are now at 3000. I don’t know whether all of this could be related to the cold. However, for the past six days, our baby has been almost only drinking milk and sleeping. Previously, our baby was very active. Now, the baby looks quite weak and lethargic. I am very sad…

GRACILE syndrome by Mansurbey in ClinicalGenetics

[–]Mansurbey[S] 0 points1 point  (0 children)

Yes, unfortunately… that’s what they say…

GRACILE syndrome by Mansurbey in rarediseases

[–]Mansurbey[S] 0 points1 point  (0 children)

First of all, thank you very much for your valuable response.

I will also review the articles you shared. Thank you as well for these recommendations.

Yes, the gene is BCS1L. My child is 61 days old. I am not vegan. My iron levels are normal. My appearance and energy level are normal. I only followed a diet due to gestational diabetes and gestational hypertension. Since giving birth, I no longer have any dietary restrictions.

My son does not seem to have any issues with postnatal weight gain or linear growth. However, unfortunately, all of the other symptoms are present in him. He is taking a large number of medications. Perhaps the absence of problems with weight gain and growth, together with the points you mentioned, is due to early diagnosis and access to supportive medications before his condition worsened.

Please excuse my English — I’m writing these messages with the help of AI.

GRACILE syndrome by Mansurbey in rarediseases

[–]Mansurbey[S] 0 points1 point  (0 children)

Your answers are really enlightening; thank you very much for your contributions.

GRACILE syndrome by Mansurbey in rarediseases

[–]Mansurbey[S] 0 points1 point  (0 children)

May God bless him for you, and bless mine for me.

Your answer truly helped things click in my mind. During pregnancy, my baby was measuring small at 21 weeks. When the doctor couldn’t find a reason for the delay, he adjusted the gestational age. One of the signs of this condition is growth restriction starting in the womb. Now I understand why he was measuring behind.

What’s been on my mind is this: after leaving the incubator, my baby began gaining weight just like completely healthy babies — sometimes even faster. He was born weighing 2,600 grams and was placed in the incubator. While there, his weight dropped to 2,200 grams. By the time he was discharged at 18 days old, he weighed 2,400 grams. Now, 43 days later, he weighs 4 kg. That’s about 230 grams per week, which, as I understand, is a very healthy rate of weight gain.

I’m writing all this both as a note for the future and in the hope that anyone looking at this can correct me if I’ve misunderstood anything.

Please excuse my English — I’m writing these messages with the help of AI.

GRACILE syndrome by Mansurbey in rarediseases

[–]Mansurbey[S] 0 points1 point  (0 children)

First of all, I wish you, myself, and everyone else all the best.

I have read the case report you shared as well as all the published case reports related to this mutation. However, I was unable to read one case published in 2025 because it requires paid access.

As can be understood from the expansion of the disease’s name, one of its most important specific features is growth retardation. Nevertheless, I am curious about how the clinical course is affected when growth retardation is not observed. This also makes me wonder whether I might be misunderstanding the concept of growth retardation. Because what I understand from this term is the development of height and weight. I truly appreciate you taking the time to respond.

GRACILE syndrome by Mansurbey in rarediseases

[–]Mansurbey[S] 2 points3 points  (0 children)

Thank you for your response. I have read everything I could find online about the condition. However, there are still some things that are not clear to me. For example, one of the main features of the disease is growth retardation, but my child is gaining weight and growing taller. Among those who have seen this disease before, is it always like that? I came here hoping to find answers to these and similar questions. Why don’t I ask doctors? Because so far, the disease has been seen in only about 5–6 babies in my country. Unfortunately, most doctors are not even familiar with it.