from Southeast Galactosemia Association Meeting 10/19/16 Winder, GA
Dear New Moms- We are thankful you have found this page, that means you are actively researching your child's condition. You didn't give up but you want to search out the best for your child. So after careful consideration at our last association support meeting we decided we should post the most common questions new moms have ask us as a whole. Please enjoy the following to help ease the new galt mom blues.
1) What type of galactosemia does my child have? In most states, the newborn screening bloodwork is required or recommended before you leave the hospital. It is a simple heel prick done on the newborn. That blood is then sent by your pediatrician's office to the state newborn lab. There it will be flagged if the newborn has any type of galactosemia or any of the other rare diseases found on the list. Most of the time the result window varies per state, but on average the results will be back in 15 days. There is a current movement in the galactosemia community trying to get a law passed to make the turn around time within 48 hours. The test will then be sent back to the pediatrician's office to let you know something is wrong. That is when the doctor is suppose to send you for a follow up blood test that will tell you the type of galactosemia. Most of the time you are sent to the closest hospital or lab that works hand in hand with the newborn screening lab. The test will consist of bloodwork taken from the newborn's arm and a urine sample. The urine is taken by placing a bag in the baby's diaper to test for urinary galactitol. The top priority that is the mistake of many moms is to not ask questions before the bloodwork is taken, it is key to ask: Will this test tell the type of galactosemia? How long til the results come back? How do I get a personal copy of the results? Who is the closest doctor with rare disease experience?
You do not want to have to redo the bloodwork cause it is traumatic enough having them take blood from your infant. So we recommend you ask the above questions to prevent the least amt of stress.
2)What do I do if my doctor has never seen a galt patient? Many moms/dads then decide to seek out another doctor. But understand that with rare diseases it is hard to find a doctor with experience in galactosemia. The Wylen Study stated "Most doctors will see 1 galactosemia patient in their clinic lifetime". Many parents stay with their pediatrician for many reasons. For example, he or she treated their previous children or they are a family friend. As long as the doctor will listen if you bring in information, or is willing to actively research galactosemia then stay with your current doctor. If you decide to seek out another doctor then call and ask for the office manager. They can usually tell you if the doctor has other patients with galactosemia, if the doctor is a speaker at the galt conferences, has attended a galt conference, has contacts to seek advice from in the galt community, or is actively working on a research study related to the condition. The biggest mistake we hear from parents is that they trust the doctor automatically knows about the condition and will give them the newest information on the condition. Do not make that mistake. When a parent moves out of the mindset of "A Specialist Will Always Know The Answer" then you will be in an active place to help your galt child.
This is the most important step..understanding what it is like to deal with a rare disease in our country. We encourage new parents to visit the NORD website to learn from other parents about their rare disease story and to see the issues they are dealing with finding a specialist with experience, finding a doctor in their area, and finding a doctor with the newest information. Doctors are specialized in their practice field but that field can contain over a 1000 conditions. So expecting your doctor to have all the answers on a rare disease like Galactosemia is like finding a needle in a haystack. Doctors also get the newest information on conditions through journals like the NCBI. Until the newest research is published all of the pending research, research currently in process at universities, and ones waiting for grants for publishing rights are not available to the doctor or general public. This is why it is important to join support groups to find other parents participating in research. These parents will get information from each phase while they are waiting for the information to be published to the medical community. Also, you need to find a specialist that is active in your rare disease category so that he or she will be actively searching for the newest information instead of giving out-dated information to parents.
3)What formula is safe? If you are unaware if your child has classic or duarte then you need to put the infant on a soy formula. Once you find out the official results then if the child is classic they will stay on soy usually. If the child is classic you stay on Soy. If the child is duarte then the formula choices are Soy, Neocate, Nutramigen, Alimentum, Elecare, and Hypoallergenic Hydrolyzed Formulas . Internationally the formula choices are Galt 10 and Soy Isomil. Some later switch to almond, hemp, or rice milk. The current recommendation from the American Academy of Pediatrics is to avoid those types of milk until the child is at least one year of age because of allergy reasons.
4) My doctor says I can still breastfeed? Moms are very concerned about not bonding with their child if they don't breastfeed. They are many times that breastfeeding is not safe, this is one of them. The benefits do not outweigh the outcome. Many dads bond well infants so a requirement for bonding is not breastfeeding. Galactose is found in the breastmilk and any animal milk. A classic child doesn't have the enzyme ability to digest milk so it is seen as a byproduct in the liver. This byproduct in time builds up and you will see jaundice, lethargic infants, vomiting, and severe complications. This build up is what later causes cataracts, speech, liver damage, and other serious neurological conditions. A duarte infant will have an enzyme level which will vary between 5-50% enzyme ability. This means your child has the ability to digest some but still the rest is seen as a byproduct which in return can cause some of the issues above. The enzyme levels also vary on the test depending on what has been consumed in a time period so at times you can test one week and test another week and get different enzyme levels. To prevent future unneeded bloodwork most duarte mom take the "Better Safe Than Sorry" approach and stay on a safe formula until the age of 2. Not breastfeeding doesn't make you a bad mom, but taking the safest approach for your child's future brain development and liver function make you a mom that's active in your child's best care. If your doctor states this it is a red flag the doctor has no experience with galactosemia. Many times we tell moms to ask the following when this is recommended-Is there a possibility my child will have delays later in life because of breastfeeding? If my child has delays later in life will your office cover their medical bills? Do you have another family with galactosemia with a child over the age of 6 I can speak to that has breastfeed and had no delays? That is our top questions we tell new moms to ask, you will learn quickly after asking the doctor will then admit they lack experience in the area and want to recommend you to a metabolic specialist with experience.
5) What foods are safe for my baby to eat when we begin baby food? Classic moms and duarte moms avoid squash, chickpeas, and black-eyed peas because of their high galt content. Many brands of applesauce are also high in galactose but each brand varies. But most baby foods are safe, all fruits, meats (except organ meat), and pasta are safe. Kroger and Whole Foods have great dairy free sections too. The list that all galt moms need to memorize to avoid is listed on this website and on the Galactosemia Foundation website.
6) I heard cheese is safe now? At the galt conference in 2014 a doctor presented that certain aged cheeses were safe. But those cheeses are from certain providences, and have to be aged a specific number of time. The study itself was very vague. When we contacted the doctor personally, she said that at this time she couldn't comment on it until she did more research but she did feel some cheeses were safe when she retested the galt content.
This is a personal preference but most galt moms have told us they would rather wait til more research comes out. Upon giving their children aged cheese many had upset stomachs and diarrhea.
7) What is the UK diet? The UK diet is also called the No Cold Dairy Diet if you doctor mentions that to you. In the UK more research has been done on galactosemia. So in February 2000, many doctors joined together to recommend this diet for their duarte patients. The diet consist of a recommendation of no dairy until the age of 2. Then at the age of 2 when some enzyme level could be increased in many duarte patients to have no cold dairy but cooked foods with dairy are allowed. No cold dairy would mean no ice cream, sour cream, butter, yogurt, and food times with milk that have to be refrigerated. All food items that have dairy that is cooked in it is okay. The reason is that if the food is cooked to 165 degrees it breaks down the whey in the dairy making it safe. So for example, a pizza is safe or a macaroni/cheese casserole is fine since it is heated. Patients on this diet have shown the least amount of issues in the long term.
8) My child has shown no symptoms? Your child could be a carrier of duarte galatosemia. But if the newborn screening heel prick came back positive most of the time it means either duarte or classic. Most state test do not pick up carrier results. Yes, your child may have no symptoms at first with duarte but you can not see the infant's liver so it is important to follow the correct diet to keep the child safe. You don't want to wait on symptoms you always want to avoid them. By the time you see symptoms the amount of damage can be irreversible.
9) I found a support page on FB that says I don't have to restrict at all with Duarte? We are very aware of two support pages that have a small population of moms that believe this. We personally deal with more moms that are on that group than any of our other groups. One of the Duarte groups is ran by a mom that doesn't have any galt children and does not have galt herself. The biggest mistake a new mom will make on FB is to post on galt support pages they are overwhelmed and what to do diet wise. At that point you are opening the door to an influx of information and opinions from moms. Many moms come to us then very upset from either not breastfeeding shaming, lactation consultants being mean, moms giving out bad information, and moms telling you all the negative things their galt child has. You are already stressed out if not you wouldn't be actively searching for information so don't put more on your plate. When joining galt support pages, seek out help and questions from the page admins. Search for galt groups with lots of members not small populations. Seek out parents through private messaging if you see a post that relates to you. Join GA Matchup on FB where you can be linked to other parents in your area so you can discuss what doctor options are available.
10) If my child will have delays when will I see them? Most of the time fine motor delays, sensory and speech show up around 18 months of age. The other time the majority is found is when the child enters school. At that time many test are run by the school system and delays the parents didn't pick up will begin to be shown. The delays seen many times are sensory, visual processing, speech, or learning disabilities in duarte. Early intervention with speech or occupational therapist is key. Depending on the extent of the delays, you can request the school to do further testing in order to get an EIP or 504 plan in action to help the student succeed in the classroom better.
11) Should I get genetic testing for my husband and I? Please note that many times genetic testing is not covered by insurance so check with your carrier first.