God Bless. We had Mariah in 1994 and she had Joebert’s Syndrome. She had an extremely rough time being able to even survive being born. A truly hard time breathing and not turning dusky and losing consciousness. She was around 5 or 6 y.o. before she could come off of full time oxygen. Luckily she was our second child and I had time to finish my Associate’s degree and get hired on in the semiconductor field. Great insurance but it was still hard at times with some experimental meds having to be paid for out of pocket. She continuously smiled and was loved by anyone who ever met her. We got to go to Disney just prior to he intestines shutting down and passing in my arms. It’s been several years now but I still miss her everyday. She was my buddy. Where one of us went the other wasn’t far behind. I can’t wait to see you again Princess and the 5 of us being together once again.

He is gorgeous, it must have been so scary for you learning about his condition. I really hope you get all the help and support you need to help him every step of the way X

I also have a child with Joubert Syndrome. She is now 28 yrs. old and has made wonderful progress. Tons of therapy over the years. She is beautiful, happy and can accomplish many things. It's unfortunate that this is genetic...every child will have it. So, we never had more children. This diagnosis requires deep faith, persistence and tons of LOVE.

@user-oh2kt9rs6r

2 жыл бұрын

안녕하세요 주버트 증후군 아이를 키우고 있는 엄마입니다. 현재 6살 남자아이 이구요 언어는 한단어로 인사말 정도만 하구요 독립보행 가능하고 뛰는 수준입니다. 한국이고 한국에서는 성인 주버트증후군인 분의 예후를 접할수가 없어서 댓글을 달게 되었습니다 댁의 자녀분이 지금 어떻게 생활 하고 있는지 궁금합니다

@artgirl9005

2 жыл бұрын

@@user-oh2kt9rs6r Hi! My daughter is doing very well - she is going to be 31 yrs. old in a few months. She did need to have a kidney transplant at the age of 17 and this changed everything for the better because we got a full diagnosis and could understand her disorder much better. When she was very young, we started all kinds of therapy and did this 7 days a week to get her functional. We NEVER treated her any different than her peers although it was more difficult for her to keep up with them. All of her milestones were behind as well and she started falling behind in school. Eventually she needed to go to special needs classes and got mainstreamed for art, music, gym etc. Socialization is key as well - these kids know that they are different and want very much to be like other children. Joubert Syndrome comes in all different types, it's sort of like Autism as it manifests differently - no two children are the same. Some are higher functioning than others (you really wouldn't know that they had Jouberts) and others are very low functioning and do not walk or talk. This is a genetic disorder (we did have genetic testing) my husband and I are carriers so we couldn't have more children. This disorder is rare and is frustrating to deal with. My daughter does have behaviors due to poor vision (she has no 3D vision), motor issues (the entire body is affected) and sensory issues. Sensory issues are difficult to deal with. My daughter also has Autism and because these two disorders have some similar issues, it can be difficult to deal with sometimes. The bottom line in all of this is that you must provide therapy (Physical Therapy, Occupational, Sensory Therapy, Speech Therapy, Music Therapy) to help the child to be functional - it all really depends on their particular situation. We had to help our child ourselves - most physician's do NOT know enough about this disorder to really be very helpful (at least that has been my experience). Wish you all the Best !

@user-oh2kt9rs6r

2 жыл бұрын

@@artgirl9005 답장 감사합니다 저희 아이는 만삭 초음파 때 이상 소견을 발견하여 태어나서 부터 정기적으로 병원 검사를 받았습니다 장애등록도병명 진단받자마자 등록하여 치료비 지원 받으며, 재활(운동,감각, 수영,언어)지속적으로 하고 있습니다 독립보행 가능하며 간단한 뛰기 가능합니다 시력은 좋고 사시가 약간 있으나 기능적인 것은 문제 없지만 1년에 한번 대학 병원 내원 하여 검사를 받고 있습니다. 분위기에 맞춰서 남들 하는 따라하려고 하는 모습은 보이고 있습니다. 저희 부부도 유전자 검사했고 두 부부에게 다 문제가 있었으나 둘째 아이가 저희 부부에게 찾아와 양수 검사 후 출산했는데 매우 잘 크고 있습니다. 첫째는 6살 남자아이 둘째는 4살 여자아이입니다. 또래 아이들보다 모든 게 지연되고 특수 교육 해야 하는 건 이미 받아들였지만 성인이 되었을 때 아이의 미래가 걱정이 되어서 댓글을 드리게 되었습니다. 혹시 신장이 안 좋아 지기 전에 전조 증상 같은 부분이 있었을까요?

@artgirl9005

2 жыл бұрын

@@user-oh2kt9rs6r Hi Again. We didn't know that our daughter was that ill until she went to see a Gastroenterologist for stomach upset and a few other unrelated issues and that doctor told us that she felt there was an issue with the kidneys, just because of symptoms. We ALL had to go for kidney ultrasounds and my husband and I were found to be just fine but, my daughter had multiple cysts in both kidneys. The only tell tale sign she was ill was the fact that she was bloated, fell asleep constantly and everywhere, was fatigued, had yellowish skin and thinning hair. We went to multiple doctors and she got an initial diagnosis of PKD Polycystic Kidney Disease - which was wrong and then a year later got the appropriate diagnoses of Joubert-Nephronophthisis which is Joubert Syndrome with Kidney issues. You can have one disorder without the other. My husband and I carry both genes and so our daughter got both disorders. She had less than 2 mos. to live after the correct diagnosis and my husband gave her one of his kidneys to save her life.

at 0:40 that part of jorbert syndrome is so annoying. I always get frustrated. last time at the stables I'm volunteering at, I was benting over to pet one of the owner's dogs which I love them and all other dogs there😁, I had to catch myself. it's wicked frustrating

I had a walker like that too but it was green with black all around the handles. now I have another one* sliver

jesus

jesus