Q. Will she grow out of it?
A. No. It is genetic. Her body does not produce the GALT enzyme necessary for breaking down the sugars in dairy.
Q. How did she get it?
A. Both Chris and I are carriers. Which means we both have a working copy of the gene and a non-working copy. We both passed on the non-working copy to Francesca.
Q. What are the chances our other kids will have it?
A. There is a 25% chance they would have Classic Galactosemia (like FJ). There is a 50% chance they would be a carrier (like Chris and I). There is a 25% chance they would have no form of it at all (if Chris and I both passed on the working copy of our genes). And yes, God willing, we will have more children. If I'm being completely honest, when we first learned about the diagnosis I thought we were going to be one and done. But after some time and talking to Chris, I realized I want Francesca to have a sibling and if she ever asked me why she doesn't, I couldn't imagine telling her it was because of the condition she has.
Q. Since they caught it so early does that mean she won't have any long term issues?
A. No. While it is a blessing it was caught so early and we were able to avoid damage to her organs, it does not necessarily mean an obstacle free life. Her body produces Galactose, the very thing that she does not have the enzyme to break down and therefore there will be a build up of it in her blood. This build up is what can cause the potential problems. It could be years before we know what kind of long term effects she will have, if any.
Q. What are the possible complications?
A. Cataracts; Learning disabilities including:speech and language difficulties, fine and/or gross motor difficulties, and difficulty with math or reading; Neurological Impairments including: gait, balance, and fine motor tremors; Premature Ovarian Failure - they will start testing her around 9 years old; Speech Disorders.
Q. What are the possible complications?
A. Cataracts; Learning disabilities including:speech and language difficulties, fine and/or gross motor difficulties, and difficulty with math or reading; Neurological Impairments including: gait, balance, and fine motor tremors; Premature Ovarian Failure - they will start testing her around 9 years old; Speech Disorders.
Q. Is there a medicine for it? How is it treated?
A. No, there is no medicine. The only current treatment is diet. She cannot have any type of dairy or foods containing galactose. Galactose is found in many processed foods so reading labels will be key. Many fruits and vegetables contain galactose but they don't restrict them because the health benefits outweigh the risk.
Q. How often does she go to the doctor?
A. She sees a metabolic specialist in Detroit every 3 months. When she turns 1, we will start going every 4 months. Every visit they draw blood to see the level of galactose (Gal1P). They want the number to be under 3.5. Her last visit (December) it was 4.6, so not as low as they want. Considering it was 85 when she was born, we're heading in the right direction. She also sees a pediatric eye doctor every 3 months. So far her vision has been great and the eye doctor has no concerns.
Q. What can't she eat?
A. Anything that contains dairy (milk, cheese, sour cream, butter, yogurt, etc.) Thankfully there are a lot of dairy free versions of these products available (and I am making lists). She also cannot have Whey, Sherbet or Organ meats (often displayed as "meat byproducts" on labels - no problem there...ick).
Q. What can she eat?
A. Since her diagnosis she has been on Soy formula. As for baby food, she can have all fruits and vegetables. As I mentioned earlier, they do contain small amounts of galactose but the benefits outweigh the risks. She will be allowed to drink soy milk, almond milk, rice milk, etc. Legumes used to be restricted but aren't anymore. Our clinic still does not allow garbanzo beans (chick peas) because of their high galactose content. Some clinics/doctors vary in their restrictions.
Q. How often does she go to the doctor?
A. She sees a metabolic specialist in Detroit every 3 months. When she turns 1, we will start going every 4 months. Every visit they draw blood to see the level of galactose (Gal1P). They want the number to be under 3.5. Her last visit (December) it was 4.6, so not as low as they want. Considering it was 85 when she was born, we're heading in the right direction. She also sees a pediatric eye doctor every 3 months. So far her vision has been great and the eye doctor has no concerns.
Q. What can't she eat?
A. Anything that contains dairy (milk, cheese, sour cream, butter, yogurt, etc.) Thankfully there are a lot of dairy free versions of these products available (and I am making lists). She also cannot have Whey, Sherbet or Organ meats (often displayed as "meat byproducts" on labels - no problem there...ick).Q. What can she eat?
A. Since her diagnosis she has been on Soy formula. As for baby food, she can have all fruits and vegetables. As I mentioned earlier, they do contain small amounts of galactose but the benefits outweigh the risks. She will be allowed to drink soy milk, almond milk, rice milk, etc. Legumes used to be restricted but aren't anymore. Our clinic still does not allow garbanzo beans (chick peas) because of their high galactose content. Some clinics/doctors vary in their restrictions.
