My son was born 12/24/08 upon his first milk based bottle he vomited. I tried to breastfeed him but he continued to vomit. The doctor switched his formula a few times. We got the results 17 days later, by that time his color was a little too pink, he had been vomiting on an off for weeks, and cried all the time. The doctor refused to see us again cause he lacked experience with DG. We went for followup bloodwork at Emory. The test confirmed again my child had DG. I researched it and found online many moms restricted milk and some did not. I called Emory and was told I could breastfeed but if he continued to vomit to stop. He did, so I stopped. My father works in radiation therapy so we thought it would be best to do a test to see his insides. I felt deep down something was wrong, at first the new doctor we found said his stomach might not be connected so we did a barium swallow test (xray drink that shows as it goes down what is wrong). The result was that my baby had ulcers all down the esphogus, in the stomach and into the small intestine. I ask the radiologist could milk have caused this and he said your child has only had milk so yes of course I would suggest that is the cause. He then saw various GI specialist, metabolic doctors, and we came up with the conclusion the milk did cause it. He was then put on Carafate to coat the ulcers so they could heal. The damage caused GERD a severe type of reflux. He cried day and night and had to be kept upright pretty much all of his baby months. When it was time for solid food he would gag at everything. We were on Nutramigen and added rice to the bottle by the suggestion of a NIC unit doctor with some experience with DG. That helped calm his stomach, allow the formula to stay on his stomach and not come back up, and the ulcers healed faster. But he had signs of sensory issues, we went thru a battery of fine motor skills and other test with Babies Can't Wait. They send an OT and PT to our house to get him on solids. The amt of vomiting he did as an infant cause him to gag at everything that touched his mouth. We began brushing therapy and joint compressions that helped with the sensory overload. To this day as a 7 yr old we still do them.
I was dumbfounded by how little the doctor community knew about this condition. I tried to search out moms and found we were all in the same boat. Til I came across a mom in the UK. She told me about the UK diet and how to just accept this is the condition my child has and to not be angry but find a way to help others. I setup a DG page on FB. Within a few months I had a 100 members from all over the world. My son by then was older and entering preschool. I was told to expect delays but I hoped for the best hoping those 17 days on milk didn't do damage. But to my surprise the delays came. But we were able to do early intervention with the same OT and PT and he is doing well. He is behind in some areas but thriving and happy, which is all that matters. Since being on the UK diet we have had the least amt of issues.
I went to Emory and ask about information, and pushed for more research. I was thankful that was in the works. But they needed participates. Thru the FB page we were able to get the word out and get parents involved in this little known rare disease. In time we were about to show a need for more research (we had doctors all over the US giving conflicting information and a bunch of confused parents) it was time for a uniform decision on how to handle DG itself. So currently in 2016 the grant is going full blast and moving from GA to other states. During this time I get about 6 to 7 messages per day from parents with concerns, questions, and the overall frustration on what to do or not do. I am thankful for the experience. I am glad we are united on wanting answers. Hopefully by 2018 the Emory Study will be finished and a published journal will be released into the medical community shedding light on what the diet restrictions should be, how to educate more doctors on the condition, and an overall step in the right direction for DG parents all over the US. Praying that one day we will get the newborn screening test back faster and we will have information on DG faster to parents.
My daughter is now 4. We restricted til age 2 then did the milk challenge. They said her enzymes were okay enough to have milk. I was very wary at first. She has done fine. Some milk products do cause her to have an upset stomach but for the most part we have seen no issues or problems to report.
The doctor put my child on soy. When I breastfeed him he would cry uncontrollably I felt something was wrong. I put him on Enfamil and he would vomit 3 to 4 times a day and cry so much. I went to a doctor who said to put him on Soy but that makes him seem colicky. He seems in pain. What can I do? It sounds like he has reflux when I google the symptoms and I heard soy makes it worse. Any ideas on what I can try to help him not be in so much pain?
The doctor recommended we do the milk challenge. I felt terrible giving my son milk for the first time since we found out he had Duarte. Day 1 went okay on the challenge. But Day 2 was a nightmare. She was crying in pain, like her tummy hurt. She got diarrhea and then by nighttime was vomiting. The specialist said she must have a stomach virus and insisted since we started the test we need to finish it. By Day 4 we were in the ER. Moms, please don't do this test! I want to scream it to all moms now. The ER doctor looked at me like I was crazy when I said my child has Duarte and we did a milk challenge. He asked why we didn't stop at Day 2 when she got sick. They pricked her finger and she did not have a virus or show signs of a bacterial infection it was the milk. When I called the speciailist his nurse said he was confused on how this happened. When I ask if he recommended many of the challenges and was this normal she said honestly he said he hasn't treated anyone with Duarte but your child, we are very sorry this happened. Note to moms this is an elective procedure unneeded. Now $6,800 hospital bills later I let everyone know.
Does anyone else's Duarte kiddo have higher levels of GALT? My son, now 20 months, tested positive on the newborn screen but his levels came back at about 50%. Based on those findings, they believe he is either homozygous for the Duarte variant or has an LA and a Duarte. He went to a specialist once and it's never been mentioned again.
My son is now 12. Very speech delayed. He was in therapy at age 3 and still has an IEP but most people don't realize he has any problem. He has no other problems and has straight As at his middle school and has always been in the top of his class. We are very thankful that we were able to catch his issues early and work through them.
I just wanted to say hi because I'm in Austin and we saw Dr. Gibson when my daughter was a baby. She is 6 now and in the first grade. She had the milk challenge at 9 months and passed and has been unrestricted since. She is a smart girl but was diagnosed with ADHD about a year ago. I still think her speech is a little "off" but she was tested last year by the school and they say she's fine. She's doing fine in an accelerated school on a half day program, takes dance and gymnastics and is going to start acting classes this summer. She had zero schooling before kindergarten and no therapy/intervention of any kind.
Hi everyone my son is 4.5yrs and has Duarte. Thankfully he was released from seeing a specialist until age 18 cuz he literally eats whatever he wants and is a very healthy boy. We don't restrict his diet whatsoever. I noticed about 4 mths ago that his speech issues was no longer baby talk but now starting to sound like a real problem that needed to be looked at. It took awhile for insurance to get processed but now hes on week 3 of speech therapy. His nurse comes 3 times a week for 45 minutes. She was able to zone in on him dropping consonants and pretty much talking too fast, and having weak motor muscles. Hes a very smart boy so shes confident he just needs to teach himself how to use his mouth muscles and for us to correct how hes trying to say certain letters. She mentioned apraxia and i forgot something else? But i found this recent study and i think it hit the nail on the head. I wanted to ask you all if anybody had their child go thru the speech therapy to correct their motor skills and the children turned out fine in school with no other disabilities. I want to get ahead of this issue so we can better equip my son. Also now knowing this, should we be calling his specialist again? In San Antonio, Dr. Matalon was his specialist being flown in once a month. He was the only Galactosemic specialist SA had. Then he stopped flying in after a year and we started driving to Austin to see Dr. Gibson. Any insight would help. Ty
Is it necessary to avoid all foods with galactose in them for a child with DG? Or just a few. I have heard squash, humus, chickpees, and tomatoes have high galt content. Do I avoid them always or only til my child is 2? Very confused on how to know. My doctor said he didn't know!!!!!!
Should a restricted diet be followed beyond age 1?
Does the dg variant cause other issues throughout life? Do I need to do bloodwork every year?
Why is it considered safe to suddenly conduct a milk challenge at 1 year? If they pass they are restriction free, again with no followup blood draws or checkups for the rest of their life. We have restricted all this time so why now would we be asked to give my child large amounts of milk?
When I asked my doctor he said this:
I order milk challenges on all DG children, that is what doctors normally do I believe.
But I can not be held liable if your child has adverse reactions from the challenge itself.
When I asked if my child could be affected neurologically by the challenge he said:
It is possible, I can't say your child will or will not. But again I can't be held liable if they do.
So of course, we did not do the challenge. But why are doctors suggesting such?????
I have heard classic girls have ovary issues and can possibly not have children. Do we know if this is true for some DG girls?
My son was born in 2002 w Duarte. He is now 12 and struggles daily with school. He has a sever memory issue. I'm so excited that there's a group out there that is going through the same things we are. He is having a lymph Node issue for the past year. They are swollen almost all the time and when I ask the Dr if D/G has anything to do with it. It's immediately shrugged off. Frustrating.
I was born in 1967 (Brisbane Queensland, Australia), and I was tested at birth for Galactosaemia... I was tested because my older sister - who was born in 1963 - died at the age of one month, because she had classic galactosaemia, but it was not diagnosed.
I have classic galactosaemia - Q188R. I have had a strict lactose/galactose/dairy free diet all my life. I have been very lucky, I had no complications, although over the past 2 years I have noticed a slight uncontrollable tremor in my fingers & hands, and in my 30s had early menopause. However I have been very very lucky, as I conceived and have had a baby. My boy will be 15 this October. He does not have galactosaemia, however he is a carrier.
My child's blood test showed he has Duarte Variant. I can not find a baby doctor that will see him. They all say they have no experience with it and to find a specialist. But I need to see someone. I am not sure what to do for formula but look online. What if my child gets sick who will I see. Is this normal, can you find me a doctor?
Timmy is only 4 months but they are thinking he has visual tracking issues. Anyone with this type of issue?
My child wants to eat cupcakes and ice cream at school parties. When he does eat ice cream he gets an upset stomach and a rash on his stomach. Is this DG related? But I really want him to be like the other kids so am I causing him this trouble? If he has a lot of ice cream it causes stomach pain and diarrhea but it is usually gone by the next day.
My daughter is almost 6 and has DG. She is our only child. She started kindergarten last fall, and is in involved in dance and gymnastics. She is very outgoing and everyone loves her. She gets good grades, but is enrolled in the RTI (response to intervention) program at school. She gets one on one tutoring with the teacher twice a week. She is definitely struggling with learning to read but is doing well in math. The main concern has always been her focus. Just this past week we saw a pediatric neurologist who diagnosed her with ADHD. So we are on a trial of Concerta medication to see if that helps. Her first day taking it was yesterday. So glad to have this group and the ability to talk to other parents with DG kids. Obviously we don't know any in real life. Ella has the Q188R and N314D genes.
Thanks for adding me! Anybody out there with a delayed diagnosis? For years my daughter lived with the frustration of being notably smaller than her peers, she had bilateral cataracts, and then complications with ovarian failure. All the while the doctors were dismissing these issues, saying that her cataracts were just a fluke, and we should be thankful that our kid was small and not fat. Now, at 16 she's been diagnosed with DG. All those years I was dismissed by doctors, now we find out her complications could have been avoided if we knew, so infuriating!
I'm beyond frustrated. Why can't doctors and other people take this seriously? I refuse to take no for an answer. We will not do the milk challenge when Asher is a year old. I'm not willing to take the risk. You'd think they would test the function of the liver before and after the challenge but apparently they aren't concerned if the milk started to destroy his liver. Oh when he's a year old the organs should be strong enough to handle the sugar. Oh well how's this? You do it your own child because I will NOT with mine!!! What about better educating doctors and nurses in pediatrician offices about this? They have NO clue and have no clue what to do. Yes we see a specialist but I need a pediatrician that has my son's best interest at heart and is willing to take time and get to know what this is.
Our DG son is now 8. He started speech therapy at 3 and he still goes to speech at school. You can't hear very many speech problems now, but it did affect his spelling in the first grade. We have often wondered if his speech problems were truly related to Galactosemia or not.
These are true stories and messages from moms I have received since I began this journey researching DG in 2008. Sadly I didn't start foldering the messages til 2012 but please see that many are in the same boat as you-confused and with many questions. The post is not to answer these questions specifically but to post to record the issues and questions for the public.