Galacto Girl Goes To Day Care

I am long overdue in an update on our Galacto Girl, I know. I had good intentions of posting a 1 year update. How are we over halfway to 2 years?? Then I was going to wait until our appointment at the Metabolic Clinic on Wednesday, but since I have a topic on my mind, here we go.

Two weeks ago I got a text from our babysitter saying she had taken a full-time job at a day care. I felt a lot of emotions...but mostly dread. I dreaded the thought of finding another babysitter and teaching them the ropes, knowing we would most likely continue to have turnover since it isn't a full-time position. I posted the job on Care.com but started wondering if it was time for day care. As much as I love the security and flexibility of in-home care, we knew FJ would enjoy and benefit from going to day care. When Shelby told me where she was going I began looking into it. I was very impressed from the website... I actually figured it would be out of our price range. Thankfully, that wasn't the case. The rooms are separated by age and filled with age-appropriate learning toys. FJ's room already does some circle time and has a routine. 

So, after 16 months of our Galacto Girl being cared for in our home by a babysitter who knows what is safe for her to eat, we are venturing out into the big scary dairy-filled world (aka: daycare). I'm terrified but excited for her to have daily interaction with other kids. We took a tour on Friday and discussed her dietary restrictions with the Assistant Director. Today I talked to the Director and she actually checked food labels for me so we could determine what FJ will be able to eat there and when we will have to bring substitutions. 

I still have a lot of questions but I am feeling better about it. Most of the time. Come next Monday I feel like I will be more of a wreck than I was when I returned to work after maternity leave.

Then I remind myself that she's going to have to go out into the big scary dairy-filled world someday. I need to trust that armed with the correct information babysitters, caregivers, parents and teachers will keep my child safe and healthy. You can bet I will be printing out and taking Galactosemia information, ingredients she can and can't have and explain FJ's condition and the importance of avoiding dairy to every employee in the day care. And then I will have to take a deep breath and trust (and probably offer gentle reminders on a regular basis). :)

As for FJ, she's thriving. She talks non-stop and imitates everything (which is a tad terrifying for mama and her sometimes questionable language). We'll be going to Detroit to see the specialist on Wednesday. They will take her GAL1P which determines the amount of the galactose in her blood stream. They say lower is better and want it under 4 (it was 2.9 last appointment) but we also know that low levels don't necessarily mean a challenge-free future. I expect the doctor will comment on how great she's doing but caution that many of the delays won't show up until preschool age. It's always a long, emotionally draining day, but not nearly as scary and overwhelming as our first trip - and for that I'm grateful. 

FAQs According to JLS

As we shared Francesca's diagnosis with people we began receiving a lot of questions. I've compiled a list below.

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. 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.

More info: http://galactosemia.org/PDFs/UnderstandingGalactosemiaDietGuide3.pdf

The Seven Day Eternity

When I was pregnant I kept hearing and reading that I should have a birth plan. I leaned over to Chris during our hospital tour and said "my birth plan: get this baby out...and give me drugs." I also read that you shouldn't expect your birth plan to go off without a hitch. What I wish someone would have told me was to not expect my "after birth plan" to go off without a hitch. In our birthing classes the nurse talked multiple times about how once the baby was born they would put her on me for two hours of skin to skin time and then we would try to breastfeed, and she would stay in the room with me. Why didn't anyone tell me that might not happen?

Day 1 - July 15
Francesca Jo was born at 6:26 a.m. and they did put her directly on my chest. I stared in awe, we took pictures, and for a few minutes things were perfect, we were right on track. Then things changed. Drastically. They were worried about her labored breathing and after calling additional people in the room to examine her, they took her to the nursery. She was put on oxygen, did a
chest x-ray and ran blood tests. The chest x-ray showed haziness, they said it could just be access fluid from birth but they would treat it as worst case scenario (pneumonia). And she had to stay in the nursery until her oxygen levels went up. The test results also showed she had low blood sugar. When they tried to feed her, she was unable to keep it down so they started gavage feedings. By the end of the day 1 our baby girl was hooked up to oxygen, had a "club" hand for the IV and had a tube down her nose for the gavage feedings. It was a rough day for all.

Day 2 - July 16
A new day, full of so much promise. They were removing the tube to try and breast/formula feed. If she kept the food down and her blood sugar levels stayed normal, she would be able to come in our room. If. If. If. They did a repeat chest x-ray and the fluid had cleared up. One step in the right
direction! But...white blood cell count was still low, so she would be on antibiotics for another 24 hours. Her blood sugar was also still low. Another night in the nursery.

Day 3 - July 17
One step forward, two steps back. That's what it started to seem like. Every time we would get one issue on the right track, something else would surface. On day 3 that something else was her bilirubin. Her blood sugar was good so they were going to start weaning her off the IV. But the elevated bilirubin meant she would need to go under the lights and could only come out for 30 minutes to eat. Considering we already had limited time with her since she couldn't be in my room, this was heartbreaking. And I was supposed to be discharged. How was I going to go home without my baby? Thankfully they had empty beds and said I could just stay in the room. There would be no more vital checks, no more free food, but I would have somewhere to stay so I didn't have to go home without Francesca, for now.

The good news was, with her being off the IV she could come to my room to eat. It was our first glimpse of freedom, but I knew I had to be quick because the lights were waiting. I felt hopeful but sad as I took her back to the nursery. Little did I know everything was about to change. As we entered the nursery one of the nurses was on the phone. It was Francesca's doctor, and he wanted to talk to me. "Everything is okay," he said, "Francesca is fine..." I wasn't sure I was believing that. Then he continued..."but the newborn screen test showed that she tested positive for something called galactosemia, her body does not have the enzyme necessary to break down the sugars in dairy." He explained that it was treatable by diet and we were very lucky to find out so early because many babies die before they ever know something is wrong. Then he said something that rocked me to the core, "stop breastfeeding immediately." I had just experienced so much joy from having her in my room and breastfeeding her. And then I realized an act I was so excited about and thought was giving my baby life was poisoning her. That was a lot to wrap my head around. I took some notes and headed back to my room to share the news with Chris.

Honestly, at this point I wasn't feeling terrible about it. The doctor made it seem like since we caught it so early, it would be fine. She just wouldn't be able to have dairy and other foods that contain galactose. Didn't seem so bad. Only, that was the simplified version. We soon found out there was much more to it. Damn Google. Chris started to relay the information to me, I didn't want to hear it. Things like "learning disabilities", "liver failure", "premature ovarian failure". At this point I pretty much went silent. Even my best friends weren't hearing from me. I felt bad but I wasn't ready to talk about it. It made me sick to think about. Why? Why was this happening? My mind started to race, and so did my heart. I started feeling like an anxiety attack was around the corner. Thankfully, I had not yet been discharged. The nurse brought me some meds to help me relax and sleep. It was still a pretty restless night.

Day 4 - July 18
This day is pretty much a blur to me. I cried a lot, I remember that. She was still under the lights for most of the day so I couldn't see her much. By that evening her bilirubin was better and her weight had went up a little bit. And I was finally ready to talk, my friends needed to know and I needed them- so I made some phone calls. Small steps.

Day 5 - July 19
It was never ending. The worst roller coaster ride of my life. Some of her blood tests came back concerning. Specifically her ATTP level which could indicate a clotting issue. Immediately I went back to what the doctor said when we found out about the galactosemia, "some babies bleed out and you never knew anything was wrong." This can't be happening. Thankfully, it wasn't. But they were concerned and did a scan of her head to rule out a brain bleed. They checked her liver panel and that was perfect. Her bilirubin had stabilized. But we weren't going home until they figured this out. What was this, set back 583?

I had to leave the hospital. As much as I appreciated the room, I had to get out. Thankfully the hospital has an "Ellison room" for moms to stay overnight when they had been discharged but their babies hadn't. I reserved one of the beds (two in a room, divided by a curtain) and Chris and I headed home for a little bit. Big.Mistake. It was awful. Walking into the house filled with Francesca's swing, Francesca's pack and play, Francesca's books. And no Francesca. I lost it. It wasn't right to be there without my baby. It wasn't the plan. And I started to fear I would never bring her home, that she would never experience any of the things waiting for her or the dreams I had for her. It was probably my darkest moment; all I could do was cry.

We stayed long enough to take showers, have some food and pack new clothes and then headed back to the hospital. There was nowhere else I wanted to be. And once I had Francesca in my arms, I felt better. The only time I really felt at peace was when I was holding her. It was hard to look at her and think she was anything other than a perfectly healthy baby girl.

Day 6 - July 20
Her bilirubin was back up, so back under the lights she went. They came to take her blood to recheck the ATTP and couldn't get it. She was screaming. And they were talking about repoking. Tears

Dear Jesus, I'm ready to go
 home from the hospital now.
Praying you can make it happen.
 Love, Francesca

streamed down my face, I had to walk away. Finally they called a nurse from the NICU. I couldn't help but be concerned when she came in. She had to be 75. My mom reassured me that meant she had lots of practice and here's where I apologize. She was great and got it on the first try. But the results still came back elevated. They had the hospital hematologist come and evaluate Francesca. She told me she was concerned about the level but didn't see any signs of internal bleeding. She also told me that the results can be skewed by a hard blood draw. HELLO, that is all they have had. She mentioned an artial stick but they don't recommend using that method with someone who might have a clotting disorder. I was losing my patience. The kid's blood is clotting before they can get it out. Doesn't really seem to have a clotting problem to me!

I went back and forth about going home for the night. I decided to stay. I wanted to go back to the room and have a good cry. But when I got there someone else was staying in the other bed. I felt uncomfortable and called Chris, I decided to go home for the night, or so I thought. In tears I met him in the lobby and walked out to the car. We had not even gotten on the highway when I told him to turn around. I couldn't leave her, even if it meant sharing a room with a stranger. I think Chris was somewhat relieved. And I was so thankful to have an understanding husband who immediately turned around, no judgement about my 46 mind changes in 20 minutes.

Day 7 - July 21
Her bilirubin was down after spending the night under the lights. Since they couldn't get a free flow for the ATTP test they ended up doing an artial stick; she clotted fine and the results came back normal. Liver panel was good. (Liver function is a concern with galactosemia) The doctor came in to see her and after looking over the test results and talking to the hematologist and the specialists at Detroit, everyone was in agreement. It was time for Francesca to go home. I couldn't believe it. The last few days had been so frustrating and filled with so much uncertainty and false hope and now - we were going home! I called Chris and told him he should come soon. When he asked why I replied, "because we need a car seat to take our baby home." We walked out of the hospital about a week to the minute Chris and I had arrived after my water broke. Jesus had answered Francesca's prayer (and ours)!  But we knew this wasn't the end of the roller coaster journey. With a condition like Galactosemia, it was likely just the beginning.

Welcome to The Adventures of Galacto Girl

Our daughter, Francesca, was diagnosed with Galactosemia three days after she was born. It is a rare genetic metabolic disorder, and by rare I mean 1 in 40-70,000. We owe her early (and potentially life saving) diagnosis to the newborn screen they do in the hospital.

After doing a little research and reading articles, blogs and personal stories I knew I would soon be joining the ranks. Francesca Jo (FJ) is now four months old and she is perfect. I still have a lot to learn and know there is potentially a long, difficult road ahead of us but I am learning to enjoy every day for what it is.

Early on I told myself I would allow time to grieve for this scary diagnosis and uncertain future but then I would spend my energy being thankful for every day instead of worried about what may be around the corner. Because really, what's the point of worrying about

something that might never happen. And if it does, it won't help to have wasted days, months or years worrying about it. I do pretty good, but still have some hard days. I just want my baby girl to have the best life possible.

So, I will be keeping a blog about our Galacto Girl.  Maybe it will help someone else and I know it will help me. You're invited on this crazy journey with us. The good, the bad, the ugly. It will be the Adventures of Galacto Girl. Sounds like a super hero, right? Well, after the fight she put up during her first week of life, she could be one. All we need is a cape.

Learn more about Galactosemia: http://galactosemia.org/Understanding_Galactosemia.php