Don't let anyone ever tell him what he can and cannot do. I'm 17 & I have Galactosemia. I'm also in the gifted/honors program at my school. I'm also an ambassador in Girl Scouts, and have been a member since I was young enough to be called a brownie. I got a perfect score on my 8th grade writing test (it was unheard of to do that at my school). Maybe with Galactosemia, we are atypical, but atypical isn't always a bad thing. Atypical can mean the best of things, sometimes (like how we don't get used to sugary foods like Hershey's like many other American children do). Atypical can also mean genius. One never knows. Thanks for sharing your family's story & spreading awareness about Galactosemia.
Love the 'Be Still My Soul' music in the background. What a comforting hymn to remind us of our Lord's sovereignty through the difficult tides of life.
This was a wonderful story. I can certainly relate. When my parents immigrated to the United States, I got screened for [Classic] Galactosemia. I too initially got severely ill when I was a baby and my life was saved because of the tests that are done in American hospitals. Today I’m an aspiring classical singer and prospective PhD student. I am happy to have stumbled upon this video, it was heartwarming to watch. In Atlanta, Emory is an excellent place where great research is being done, regularly. There are also conferences if you are interested. Kind regards
I have galactosemia I'm 21 and I graduated got my license have a job and I've been told all my life you won't be able to do any of this stuff I've proved them wrong
My daughter is Galactosemic. She has the Duartes variant, but I still watch what she eats. My heart goes out to all parents who have children who have this disease. God bless.
Living in California is the life. I am planning to move there with my developmental delay business and hoping to help autistic young adults transition away from home and into the workforce.
I'm nearly 49, lifelong Galactosemic - doing very well. Message to Chanel Ramjanam: I hope you can buy Soya drink - works really well on cereal and in smoothies. It is a difficult life, but if you make it your business to read all ingredient lists and point out the presence of milk where it shouldn't be, and make your health your No.1 priority, you'll be absolutely fine. If you don't speak out to clarify for other people, no one will know. I've been depressed about the serious inconvenience of being Galacto - but sharpening up your attention will help your self-esteem as well as your health. Good luck, honey, and I'm sure you'll be happier. Please respond if you have any questions - I'll be delighted to help you!
@@rkemon3525 Hello. It may be worth your while asking your GP about trying out alternatives to milk: Almond or Oat drinks, but be careful that they only include a little salt and NO OIL - so read ingredient lists carefully - These could be a great alternative to breast milk or cow's milk/Formula. Once your baby boy is going onto solids, try a small amount of hummus on rye bread, instead of butter or margarine. Discuss with your GP first. I really hope you and your baby boy will do better. I hope this helps, love from HFH
+Alex Roedel There's a girl I like and I found out she has this condition. I can't find anywhere says they are working on a cure for this! It's so frustrating and really sad.
Oh okay, it's really sad. :( Can it really be easily solved? Sometimes I wish all the funding for cancer and the like would be put into curing this. I know it's selfish but it's so terrible to think this could happen. I think I have healthy genetics but who really knows. Sad, very sad. :(
It sounds like you have a very happy and healthy family. Keep up the great work. Galactosemia seems similar to PKU. I am a cognitive study major and hoping to become a bilingual developmental specialist sometime next year. I am hoping to set up an informational interview and job shadowing opportunity with a pediatrician on my way to catapult my career.
My story of galactosima is very different. I’m Canadian and we don’t have a screening process here at all. When I was born I was a normal weight but almost right away my mom knew something was wrong. When I was in the hospital, a doctor that was visiting just happened to have read a paper on Galactosima and got me to Sick Kids hospital a few hours away. I was rushed there and tested at about two weeks. I just managed to dodge the Retardation but I do have learning disabilities, as well as a lot of trouble gaining weight. There was another boy born just after me in the same area with galactosmia as well, unfortunately he didn’t go to sick kids in time as was blind before they discovered his disorder. Our health care system needs to be updated. Also, for females with the gene, most of them are infertile. I was officially diagnosed being in full blown menopausal at age 19. I never even entered puberty, and had to manually take estrogen, but wasn’t told when to start so I’m under developed, and short.
It is rare to even have this gene, but I happen to have it. However, it is not shown like this little boy's case. At the moment actually, I am eating cereal with normal, 2% milk.
Devan Zane There are different forms of galactosemia. I also have a rare form where I can eat milk products (not a lot, but still some). I wasn't allowed to get breastfed as a kid, but it got better as I got about 2 years old.. so yeah =)
My daughter has a rare bone marrow disease called PNH and her cousin, my twin brother's son, has the familial cousin of her disease called spherocytosis. She has to have weekly treatments but it doesn't affect him like that. When he was about four and a half he had to have his spleen removed. But my nephew just had a second child who has galactosemia.
My daughter wasn't diagnosed till she was 18 days old,we're in the uk and its not heel prick tested here, despite being desperately unwell she was ignored and sent home more than once.
@@TheCheftalythis was my comment from another channel. Sorry for the very late reply. She’s now 11 years old. She has a tremor, severe speech issues, learning difficulties, requires a wheelchair for longer walks and has epilepsy. She also has premature ovarian failure. She does have an excellent sense of humour though and is kind and very brave.
@@Sarah-ft8jr Wow, after all that time have passed, I already forgot that I've asked this question and your answer was just a surprise to me. This made me remember the time 2 years ago, when my daughter was a newborn and diagnosed with this issue after 11 days and I had no idea what is going to come after and was desperately in search of information. As for everything we, humans, we just "get used to" everything. Now your comment made me look back and see that whatever a person goes through, whether in minutes or in years, time just passes and heals, this way or that way. I hope all the best wishes and a life full of joyfull times for your princess. I hope she gets better and better with her health and enjoys her life without any hesitation! Even though your reply was "a little" late, thank you for the information.
Hello everybody from here. Just today the doctor givme the news my baby has this glacosimia im worry what she can drink she has 2 weeks born pelease help
There's some info in this video that I question. They say you can eat fruit, the list of no-no's has alot of fruit on it. And alot of veggies. Don't take my word for it, go check it out.
Very nice! Lee, this is not PKU! Pku means Phenylketonuria. Wich is a an autosomal recessive metabolic genetic disorder; just like galactosemia. But in PKU, the person cant metabolize phenylalanine. In galactosemia, the person cant metabolize galactose. They're also hard to manage in the beggining, but if u have a little faith and good will everything turn easier =)
I was born with galactosemia and went to the children's hospital every week until I was 8 years old. The doctors came in and said that I no longer had it... I tried Ice cream for the first time at 8. Now I'm in my 40s and reflecting back I've dealt with hypothyroidism and brain fog. The past 5 years I've gotten very allergic to dairy. Is it possible that the disorder can come back?
Did you have classic galactosemia? I have a newborn that was just diagnosed this & as a new mom I have been going through it with emotions. Your comment just brought back some lost hope/faith
let's say if you don't have lactase, then this disease wouldn't occur in the first place? anyone with any knowledge about this? or maybe the lack of lactase would reduce the effect substantially. cuz i assume lot's of sugars have galactose as a sub-unit.
Arotin Babakhanins if I understand your question allow me to clarify. Galactosemia is a recessive genetic disorder. There is no way for it to be caught or developed. Galactosemia (according to recent statistics) occurs in 1 in 60,000 people every year. That means that for each person, only 60,000 will be born with the disorder. Unfortunately, there is no way to cure Galactosemia- stem cell research does not look promising neither does CRISPR. I apologize if this did not address your question directly, I hope that it helped a little.
It is not a lactase enzyme, it is a fault with the Leloir pathway which makes the body unable to break down the galactose to form energy. A build up of galactose is toxic, therefore the liver becomes inflammed.
It would still be there but the ill effects wouldn’t show. I’m America they test for it hence why none of these kids on this video are truly ‘suffering’ from galactosaemia. Here in the uk the government took the heel prick test for it away so people like my daughter have ended up with brain damage that is very debilitating and severe.
Omg I had speech therapy for my galactocemia too I couldn’t say the L, Th, or R sound I still can’t say the R sound bc it was so bad my therapist gave up on me...
