Conference Recap

Five months after the conference seems like a good time to post an update. Whoops. Let's see if I can remember...

The conference was much like I expected. There were times I felt very hopeful and other times that I felt lost and terrified. But overall, it was a wonderful experience.

We met a lot of great people and learned a lot of tips for managing the condition. Two of the sessions stand out to me. One as a high and one as a low.

The low: Premature Ovarian Insufficiency. Bottom line, most women with Galactosemia (80-90%) have POI in some form making it unlikely (but not impossible) to have children. They said the best chance of a woman with Galactosemia to get pregnant is to do IVF with donor eggs because they have lower egg count. With that said, I know research is continuing and we have years before we have to really think about that.

The high: A presentation by a mother of two boys with Galactosemia about the importance of self esteem. She talked about everyday events that can be challenging for our kids and the importance of helping them believe in themselves so they can rise to any challenge. She also gave some great tips such as putting green and red stickers on all the food in the house - that way if a family member or babysitter comes over, they will know what is safe. It's also an easy way for the child to know what they can and can't have. She also talked about the importance of having the kids start asking questions and talking to the chef when you're out to dinner, at an early age. This will allow them to learn what questions to ask and how to explain the restrictions since as she said, some day mom won't be with them. It was also encouraging to later hear from both of her sons who are in college and doing well.

We also got to meet Dr. Fridovich-Keil who does Galactosemia research at Emory University. I had enrolled Francesca in a study with her lab so it was great to meet her and learn more about the research. We also enrolled FJ in another study.

FJ celebrating her birthday at the conference

One session has really stuck with me. A mom shared her story of refusing the newborn screen. As I have talked about before, the newborn screen is the reason Francesca is with us today. She was diagnosed because of the newborn screen - a simple heel poke - at 3 days old. I learned that there are people who actually petition against the newborn screen. The presenter shared her story of being approached by a nurse who claimed the newborn screen was a violation of privacy and it would allow the government to have the child's DNA. After talking with the nurse and not being aware of any genetic issues in their family, she signed the Parental Refusal of Newborn Screen. After her son was born her nurse (different nurse than previously mentioned) encouraged her three different times to get the newborn screen. After the third time, she agreed and because of the test found out her son had Galactosemia. Thankfully it was caught in time and he is now a healthy 7 year old. Her story made me realize I need to be a vocal supporter of the newborn screen. I need to share my story. I hate to think about what could have happened if we hadn't done the newborn screen and it is heartbreaking to me that people would advocate against a non-invasive and potentially life-saving test.

Apparently she thought it was okay to take
all the balloons, since it was her birthday!

The speaker also shared the poem "Welcome to Holland" - written by a mother of a special needs child. I've also read other special needs parents talk about why they don't like the poem. Personally, I really related to it. It left me in tears and still does.While we have been very fortunate so far and Francesca is not experiencing any delays, we know we could still have a long road ahead of us. And it's not what any parent expects or wishes for. It reminds me of when I blogged about how everyone tells you to have a birth plan but also warns you it might not go as planned but no one tells you your after birth plan might not go as expected.

We learned a lot at the conference. We met some new friends but didn't meet as many people as I had hoped. It was hard because they had activities at night but they started at the same time as FJ's bedtime so we didn't attend them.

The next conference is in 2018 in Denver, Colorado. We'll definitely be flying to that one. Oh - that's another thing I learned - driving to Georgia with a toddler is a questionable decision. Actually, the drive there wasn't the problem, but when we were driving through the mountains on the way home and FJ was screaming "OUT...I WANT OUT" at the top of her lungs, I briefly considered strapping myself to the roof of the car. Instead, after we were out of the mountains Chris frantically searched for the nearest park, which we immediately went to and let Francesca play before continuing the drive.

I'm looking forward to the 2018 conference and am currently brainstorming some fundraising ideas we can do to support the cause. Stay tuned.

And We're Off - Galactosemia Conference Bound

Atlanta here we come! An adventure for Galacto Girl (and her mama and dad) to be sure. The Galactosemia conference,  which is held every two years, kicks-off Thursday evening and continues through Saturday.

The first time I learned about the conference was three days after Francesca was born. I was feverishly searching for answers about this rare and terrifying diagnosis and found all kinds of information about the conference, which was underway in Florida. Soon after we decided that spending her birthday at the conference every other year would be a cool tradition (and get mama out of  a birthday party). :)

While I am excited about the conference, I am mentally preparing myself for a couple of emotional days and information overload. At the last conference they announced several updates to the dietary guidelines. By the time we received the dietary guidelines book, a few weeks after Francesca was born, it was already out of date. They were now allowing legumes, hummus and even certain aged cheeses! I'm looking forward to learning the latest and greatest about the research findings. But I also know there might be information that's difficult to hear. We'll be meeting many individuals with Galactosemia which could include a range of complications. With not knowing how this condition will impact FJ long-term, I'm not sure if meeting others will be encouraging or discouraging, but I anticipate a little of both.

The conference offers a variety of break-out sessions. Chris will be going to the more "science behind the condition" sessions and I will be attending the ones geared towards managing the condition and possible side effects.

Now the question is - will I regret our decision to drive instead of fly? So far so good - but we're only three hours into our multiple day drive. Ask me on Thursday afternoon and I might have different feelings.

Galacto Girl Goes to Day Care: Week 1 Recap

We're 10ish hours away from week two of day care and I don't feel any better than I did last week. I might be dreading it more. Week one was not good...and that's putting it mildly.

When I dropped Francesca off on Monday she was very clingy, as to be expected. We put on her Dairy: I CAN'T EVEN! shirt that Shelby made and I went over the menu with her teacher. Once she started playing I slipped out.  

I got teary eyed on my drive to work but was feeling okay. We have access to a live camera feed so I could check-in throughout the day. I was quite surprised to find out that nap time was just a bunch of mattresses scattered across the room. I laughed out loud thinking there was NO WAY my kid was just going to lay down and go to sleep. Watching the poor teacher get four (maybe five) kids to sleep was painful to watch. She would have had better luck herding cats. She would get one kid asleep (or so it appeared) and move on to the next, only to have the last kid come over and interrupt the progress she was making. Like I said, painful (and a tish entertaining). But, miracles do happen and FJ fell asleep! 

I noticed later in the day that Francesca was carrying her blanket EVERYWHERE. Great, my kid is Linus from Peanuts. Not only that, she went on a hunger strike. When I picked her up I found out she didn't eat anything but a few crackers, all day. When we got home she refused to eat dinner and just sat on my lap and watched TV, clearly exhausted. This is the time of night when she was usually running circles around the living room. 

About 9:30 p.m. she started fussing. I wasn't going to check on her at first but changed my mind...thank God. I went upstairs and she was laying on her back throwing up and choking. It was terrifying, to say the least. After a quick bath she went back to sleep but that's when the panic really set in for us. Our first thought...she had eaten something with dairy. I knew she hadn't really eaten so could she have grabbed someone else's cup with dairy milk instead of her almond milk? It seemed feasible and since she had never thrown up before, I didn't know what else to think. 

I called Tuesday morning and her teacher assured me that she didn't have any dairy. Miss Heather sat next to her at breakfast and lunch time. Francesca was acting fine when she woke up so we decided maybe it was just nerves from the new situation and not eating and took her for day two. When I picked her up they said she had been sad in the morning but was much better after her nap. And she ate! Small victories. The note summarizing her day said she had been "talkative", so that was a good sign. Every time I looked at the video she was carrying around her blankie though. Linus, for real. 

Tuesday night was seemingly better. She was still much more tired than usual but she did eat her dinner. A little after 6 a.m. on Wednesday morning she threw up again. Thankfully we had a doctor's appointment already scheduled to make sure her ear infection was cleared up. The doctor assured me there was a lot going around and recommended not going crazy about the dairy. I couldn't help but think it was weird that it was only happening while she was sleeping and only one time each night but again she said that was pretty normal with kids that either just get a slight case or are at the end of an illness. I tried to not worry but all I could think was she was a stress puker and she was not adjusting well to day care. And the fear of her consuming dairy was still nagging at me. I cried the entire drive to work. I hated that I didn't know what was causing her to be sick and couldn't help but wonder if this would be the rest of our lives every time she got sick. What was the cause...stress? dairy? the flu? 

Wednesday she was with Grandma and Grandpa and we made it through the night without puking. I think I was equal parts relieved and worried. Relieved that we made it through the night, worried that it was the stress of day care and that she would end up throwing up Friday night. But we didn't make it that far because Thursday night it happened again...and it was the worst yet. Poor kiddo. Grandma volunteered to come over Friday so not only no day care but FJ could also spend a day at home. When I called the day care to let them know Francesca was sick they asked what her symptoms were. Turns out there had been a lot of kids out with the flu. So again a combination of relief/worry. Relieved it wasn't dairy-related, frustrated that our first week of day care and she gets sick. This was one of my major negatives on my pro/con list of day care vs. in-home care. I mean, I know sickness happens but THE FIRST WEEK?! 

So...it was a long and stressful week filled with not a whole lot of sleep and more than enough worry. Although she hasn't gotten sick since Thursday night she still isn't her usual happy self - she's not eating and has been extra clingy all weekend. I'm a little on edge about her going back tomorrow with how she acted this weekend but I know it's inevitable.

All I can do is hope by Friday we will have made it through illness free and a little more adjusted to the new routine. I mean, the first week set the bar pretty low...things can only go up from here, right?!

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