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Galactosemia Support Group
A community of patients, family members and friends dedicated to dealing with Galactosemia, together.
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01/05/2010 10:43 AM
AFulcher
 
Posts: 20
New Member

Hello, my name is Amy and I have three children, 17 year old and 12 year old daughter and a 15 year old son with Classic Galactosemia, his name is Evan and he is a junior in high school, he has been documented as having some short term memory loss thus he really struggle with tests in school. Does anyone have this problem as well?
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01/05/2010 04:41 PM  Top
aharris
aharris
 
Posts: 31
Member

Hello, welcome. My daughter is also 15 with classic galactosemia. No problems have been recorded. She struggles with some math concepts,but I am pretty sure that is lack of interest. She did suffer some very severe social anxiety in elementary. Extremly noticable in the cafeteria. Years of counseling helped with that.

When he was born,did the state you lived in provide newborn screening for galactosemia? How did he do?


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01/05/2010 05:11 PM  Top
AFulcher
 
Posts: 20
New Member

We live in Ohio, and yes they did do newborn testing, but did not get the results til he was 5 days old and in the ICU at Dayton Children s Hospital having a complete blood transfusion due to very high jaundice levels. We finally got him on an IEP a couple years ago, and this has helped some. He has an older and younger sister as well.

01/05/2010 05:14 PM  Top
AFulcher
 
Posts: 20
New Member

To aharris

01/05/2010 05:24 PM  Top
aharris
aharris
 
Posts: 31
Member

Wow, here in Arkansas they didn't test and Jacarra got very sick. Her jaundice levels got very high and she wouldn't eat well,the doctors had no clue. After two in a half weeks and multiple scares we got a diagnoses and went on for genetic counseling. We were completely out of the hospital when she was 6 wks. With the blessing of her life, and knowledge under out belts. Looking back now I realize how bad it could've been and as bad as it was for me,I couldn't imagine what it would be like for your litte one to under go a blood transfusion.

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01/06/2010 09:28 AM  Top
AFulcher
 
Posts: 20
New Member

It was pretty scary, but when the news came in, We felt a since of relief to know it would be a tough road ahead, but he was going to live. I do not know about our oldest, but our youngest Allie is a carrier. We also know of no one else in our families with Galactosemia. I think it is awful that your state did not test, and very glad to hear did not have a of other problems as a result.

01/06/2010 12:20 PM  Top
hatbox121
hatbox121
 
Posts: 10493
VIP Member

Hey there. Welcome to the group. AHarris, I'm originally from AR! Moved to AL about 8 years ago.

The IEP should help him as far as test wise goes, but that doesn't help his frustration, etc. Has his drs said anything about it? Does he do memory exercises? I'm sorry that I can't help more.

Amy~ “When you come to the end of your rope, tie a knot and hang on.” ~Franklin D. Roosevelt

Current dxes-Ehlers Danlos Syndrome, Mitral Valve Prolapse w/regurg, 2 other heart valves with regurg, POTS, DDD, scoliosis, various OA, polyneuropathy of unknown origin, SI joint dysfunction/fusion/collapse, chronic rotar cuff tendonitis, impingement syndrome of the shoulder, chronic bursitis in various locations, degeneration of the sternum, vertigo, GERD, FM, CFS, CPS, various bone marrow lesions, brain lesions of unknown cause, migraines, TMJ, vertically bulging discs, Raynaud's, anemia, tinnitus, high copper levels, borderline glaucoma, colon polyps, intermittent RLS, Vit D deficiency, depression, Eye accomodation disorder, Essential tremor, recurrent kidney stones, sacral spine disorder, inflammed tendons, and inflammation of spinal nerves(no specific dx).

I'm am not a dr. I am not a substitute for a dr. All advice I give is based on research and my personal experiences.

01/06/2010 04:30 PM  Top
aharris
aharris
 
Posts: 31
Member

It could've been worse. At least your youngest daughter knows she is a carrier,and can be prepared. I encourage all of my family members to remember to get tested before concieving a child.

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01/06/2010 04:38 PM  Top
AFulcher
 
Posts: 20
New Member

he does have frustration issues, but he is such a quite kid and does not communicate well and he keeps things bottled up, he does not get that from me, lol. he is also at the age that a lot of our suggestions are just not cool, (typical teenager).

01/06/2010 04:44 PM  Top
AFulcher
 
Posts: 20
New Member

When they did the newborn screening they tested to see if she was a carrier due to the history, so I am glad that we already know, my 17 year old has not been tested but I am thinking about seeing if they can test for it when they recheck her thyroid levels.
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