A Letter to Myself - July 15, 2014

This is the time of year when Timehop and On This Day Facebook memories and pictures bring back the sadness, fear and uncertainty we experienced three years ago. We still face uncertainties including possible learning disabilities (yes, I know she's doing great now - but the galactose will continue to build up in her body and and could still cause long term challenges) and premature ovarian failure, among other things. But we have an amazing kiddo that I wouldn't change for anything - including her Galactosemia diagnosis. As Francesca's birthday approached I kept thinking of things I would have loved to know three years ago. So, I wrote a letter to my July 15, 2014 self.

Dear Me,

Things are about to get really scary. When your skin-to-skin time is cut short, it will be just the beginning. You will question if you'll ever bring your daughter home. You will feel incredible guilt
when you return to the nursery after breastfeeding Francesca only to find out  the very thing you thought was sustaining her would kill her. You will think you want to go home for a night only to make your husband turn around and take you back to the hospital because you would rather spend the night sharing a room with a stranger (divided only by a curtain) than spend the night at home, away from your baby. You will experience an emotional roller coaster that will include times of peace and hope and times of extreme sadness, fear and anxiety. But know this, your baby will be okay, you will be okay.

Don't push your friends away. There are a lot of people who love you. And you need them. Reach out, ask for their prayers, cry with them. Let them come visit. After spending a couple days not talking to anyone about the situation - you will feel so much relief when your best friend comes to meet Francesca and you get away for a couple hours. People you haven't talked to in years will reach out to offer prayers and provide support. It will help. You will still remember who they were and be grateful 3 years later.

Be wary of what you read on the Internet. You will read A LOT. And most of it will be really scary - because it is worst case scenario. You will find good things too; A blog about two healthy girls with the condition, a Facebook group full of supportive people who have been in your shoes and will offer advice and support, and information about the conference that happens every two years (and is actually taking place in Florida while you are scouring the Internet for information about the condition). But there will also be out of date information, including dietary guidelines. And there will be conflicting information. And there will be a lot about worst case scenarios - read it, know it is a possibility and then move on. It could happen, it doesn't mean it will.

Be prepared for information overload. You will be terrified and anxious leading up to the specialist appointment. At the appointment you will meet with several different people who will provide so much information you will feel like your head will explode and you will never remember everyone and everything. You will leave feeling exhausted and overwhelmed. You will cry all the way home and not want to talk to anyone. Your husband will hold your hand and share in your grief. These appointments will not always be this way but your husband will continue to be your rock - strong when you are weak, positive when you are negative, patient when you are not. You will make a great team. (I realized as I'm typing this that I probably don't tell him that enough. Thank you, Chris! xoxo)

You will learn more than you thought possible during the first year. The first time you go to buy baby cereal you will call the dietitian in the aisle of Kroger to make sure it is safe because there are a couple ingredients you won't be sure about. You will be near tears because you're overwhelmed and think you'll never figure it out. And this will not be the last time - you'll put all of the dietitians phone numbers (3 to be exact) in your phone and will call them frequently as your child ages and is introduced to new foods. But, you will learn a lot - quickly. By the time she is two you will be able to easily read a label and spot unsafe ingredients. You will learn that the allergy statement is the first place to start and what to look for - but also know to read the ingredients, just in case.

Stay positive and pray. This child is the best thing you have ever made. Enjoy her. Don't spend your life worrying. Nothing good comes from worrying about something that might never happen. And if it does happen, it won't help to have wasted days, months or years worrying about it. You will have good days and bad days, days filled with anxiety but more filled with hope and joy. Pray. Know that even when the future seems scary and uncertain for you, it is not for God. He's got this. Remember, Francesca is a child of God, and He doesn't make mistakes. She is exactly who He meant for her to be. Find peace in that and walk by faith.

Love,
Me

p.s. I might also include - you're not going to completely change your diet, removing all dairy, and get super skinny like you might think. You will make simple substitutes (dairy free butter, bread, marinades, etc.) when they are available, but for the most part you will put the cheese and other dairy ingredients on the side and teach Francesca from an early age what she can and cannot have and to ask if something is "safe" for her, before she eats it.

Celebrating Galacto Girl on Rare Disease Day, and Every Day

It's Rare Disease Day - the perfect time to give an update and celebrate our Galacto Girl. We had our appointment with the Metabolic specialist the beginning of November. As always, they tested her Gal1P, the amount of galactose in her blood. They want the number to be under 4. It had been under 4 for the last couple appointments so I was hopeful. This time it came back right at 4. They aren't concerned because she is doing so well and said it could have just been what her body was producing that day and not related to anything she ate. They didn't recommend a recheck so we will get it checked at her next appointment...which won't be until next fall. We only have to go back yearly now. Yay!

We also found out her Vitamin D is low. Not surprising since our strong-willed sassbox refuses to drink any kind of milk substitute (coconut milk, almond milk, soy milk...we've tried them all). The doctor prescribed chewables for her but trying to get the prescription filled has been a nightmare. Insurance wouldn't cover it because she's not over 65. Then I found out it was like $6 for the prescription so told them to order it and I would pay out of pocket. Then they couldn't find it in the amount the doctor was prescribing. After several trips and calls to the pharmacy, I finally gave up and went shopping. After trying Whole Foods I found them at GNC. Brought them home and....she hates them. GAH. I called the Metabolic clinic back and asked for drop recommendations. So, I will be ordering those  and hope they do the trick to get her Vitamin D where it needs to be. Other than that, the appointment was great. She is great. Just the same caution of "delays usually don't show up until around school age."

We often talk to FJ about being a Galacto Girl and having Galactosemia. It's a struggle to figure out how to make your two and a half year old understand that although sharing is very important - she cannot share food if someone offers it to her. I know it will be easier as she gets older but we will continue to have the conversation.

And then there are things she definitely understands...like how to turn our own words on us. So we often say "that's not safe for you" or "we have to make sure that's safe." Well a couple weeks ago miss smarty pants was eating her dinner and decided she was done. She pushed her plate away and looked at me and said, "No mama. Can't. It's not safe for me." :/ AHHHHHHH. I assured her that her mama would never give her something that wasn't not safe for her. Oh boy...we're in for it.

In other news - Francesca will be having tubes put in her ears next Wednesday, March 8. In the last year she has had a couple double ear infections and several single ear infections. At a recheck for the last one the doctor found that although the infection was cleared up there was still fluid in her ears. We went back two weeks later and it was the same, so they sent us to a specialist. They said her hearing is probably impacted to some degree, so hopefully the tubes will help. I know it's a simple procedure but am still anxious, of course. Prayers are appreciated!

She is a rare kid - in more ways than one (I mean, have you met her parents? Especially her dad...) but I wouldn't change her for the world. She is by far the best thing I have ever done.

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