Rare Disease Day

February 28th is Rare Disease Day. This means there are some of us that can help spread awareness and educate about certain disease and disorders that effect our family.  There are a few in our family, apparently our genes don't like us. Today I am going to talk about Piglet and her MCADD. MCADD stands for Medium chain acyl-CoA dehydrogenase deficiency. If you would like to read Piglet's story click HERE. Here are some facts about MCADD:

• MCADD is a metabolic disorder. MCADD is a disorder in which your body is unable to break down fats for energy. Normally, fat is broken down into energy by "enzymes." This energy keeps your body running whenever it runs out of its main source of energy, a sugar called glucose. In MCADD,  a very important enzyme for breaking down fat, the medium chain acyl coA dehydrogenase enzyme is missing or doesn't work correctly. This means that people with MCADD can't break down fat for energy when they run out of glucose. 
• Before Newborn Screening started to screen for MCADD a lot of babies died of "SIDS." We are forever grateful for Newborn Screening saving Piglet's life. And all it is, is a little heel prick at 24 hours old. What a difference a little blood draw can make
• Since MCADD was discovered the percentage of SIDS babies has dropped DRASTICALLY! As much as 85-90%
• Most people with MCADD should not go more than 4 hours during the day without fuel, aka food and drink
• Babies with MCADD are not allowed to sleep through the night like an average baby. They must eat more often, depending on the age most get woken up to eat every 2-4 hours. Once they turn 1, many of the MCADD specialists have the baby add corn starch to their bedtime bottle which allows them to sleep longer stretches. The cornstarch is a slow release sugar so keep the baby's fuel going longer
• Peope with MCADD have a low fat, high carb diet. Carbohydrates give the body many types of sugar that can be used as energy
• Since people with MCADD are missing the medium chain enzyme, they cannot break down medium chain fats
• If people with MCADD eat too much fat in their diet or eat medium chain fats, it can start to collect on their organs and over time it can it can cause fatty organs or organ failure 
• Many with MCADD take L-carnitine daily. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes
• About one in every 15,000 babies in the United States is born with MCADD
• It is common for MCADD children to have a lot of leg pain once they are old enough to be more active. Once Piglet was old enough to talk she would tell us her legs hurt behind her knees. Its always been behind the knees for her but with others it can be general leg pain. Sometimes its also before they get sick, for her its just when she is active. In the winter its usually once a week, in the summer when she is extra active its every day
• MCADD can cause a metabolic crisis. A metabolic crisis may start with symptoms of fever, diarrhea, and vomiting. This is usually followed by low blood sugar. If a metabolic crisis is not treated, it can lead to breathing problems, coma, or death. Treatment is going to the ER/Hospital for a D10 IV until the sickness has passed and the person is able to eat and drink enough again 
•  Sometimes a child will become very moody or throw tantrums when they are in need of fuel. Thankfully people that are educated about MCADD know to feed the child and get some fuel in them. 
• Most people with MCADD are like the average person as long as they eat and drink regularly and go into the hospital for their D10 IV when they become sick

Piglet Was Born With a Disorder Called MCADD, What is it?

Piglet was born with a metabolic disorder called MCADD, Medium Chain acyl CoA Dehydrogenase Deficiency. It falls under something called an FOD, Fatty Acid Oxidation Disorder. The hubby and I had no idea we were both carriers of this disorder and didn't know we passed MCADD to her, until her Newborn Screening results came back at 3 days old. The newborn screening saved her life, it's scary to think she could have died in those 3 days before we found out and we were educated on how to care for our sweet girl. Early on it was a whirlwind of information, labs, testing, doctors, genetic counselors, nutritionists, more information and telling family. I remember coming home from the very long first appointment with the entire medical team and just sobbing while holding her. I was so upset something was wrong with my brand new baby and she was going to have this life long disorder to deal with. 

MCADD is a disorder in which your body is unable to break down fats for energy. Normally, fat is broken down into energy by "enzymes." This energy keeps your body running whenever it runs out of its main source of energy, a sugar called glucose. In MCADD,  a very important enzyme for breaking down fat, the medium chain acyl coA dehydrogenase enzyme is missing or doesn't work correctly. This means that people with MCADD can't break down fat for energy when they run out of glucose. 

This is how I explain it: a normal person will burn whats in their gut for fuel and then they have glucose as the reserve for backup. Piglet will burn whats in her gut and then would crash because she has no back up or reserve. This means she has to eat more often and has a special diet. She can not go past 4 hours during the day without a snack and at night she is allowed to go 11 hours if she drinks her "shake" before bed. Her shake contains cornstarch mixed in with milk, its a slow release sugar which allows her body to slowly keep fuel through out the night allowing her to sleep with out risking a crash. She started her "shake" at 1 years old. When someone with MCADD is a baby, they have different sleep rules. We didn't get much sleep her first year of life because an MCADD baby has to eat much more often than the average infant. She also takes medicine 3 times a day that helps her body work properly. Since she is missing the medium chain enzyme, she cannot break down medium chain fats. If she were to eat something that was a medium chain fat, it would go directly to her organs which in the long run can build up and risk fatty organs or organ failure. Some kids also don't feel well or throw up if they eat too much fat. We were told coconut and avocado are big no no's on the list because they are medium chain fats. She is also on a heart healthy diet, low fat, high carb. Most of her meals are 4 grams of fat or less. She was also diagnosed with Celiac Disease at 3 years old so is gluten free but that has nothing to do with MCADD. 

The biggest concern with MCADD aside from diet is when they become sick. Even if its a cold it can become dangerous quickly. An average child is just fine if they don't want to eat or drink when they are sick. With Piglet she needs to keep her fuel going so if she isn't eating or drinking (juice or Gatorade) enough, things can turn into a life threatening situation quickly. If we can't get enough in her or if she is throwing up she has to go into the ER/Hospital for a special IV to keep her sugar levels up. Now that she is older (7) she understands that if she isn't getting enough food or drink when sick she has to go into the hospital for her special IV. Sometimes this helps because she will try harder to get some fuel in her body, but sometimes we have to go in no matter what. She doesn't like the ER because they always have a really hard time getting the IV in her but she doesn't mind the hospital once we are up in her room. There are a lot of fun things for her to play with and we have been there many times so we have some favorite nurses. 

Since my hubby and I are both carriers of the MCADD gene we will have a 1 in 4 chance of any of our children having MCADD. We have added to the family with Piglet's sister "Squeak", she is now 4 months old and Piglet is so thrilled to be a big sis! Since we knew ahead of time this time we were able to rush the newborn screening results to make sure we knew faster if Squeak had MCADD like her big sis. We also supplemented with formula until my milk came in to make sure she was getting the proper fuel in case she did have MCADD. It was hard to wait to hear if she did have MCADD and nerve wrecking, but we were also confident in our parenting skills if she did indeed have it since we were already parenting one MCADD child. We found out she does not have it. It was a relief and nice to know we could get a little more sleep this time around but it was also really hard on Piglet. She feels alone a lot in her MCADD journey and we discus it on a regular basis. She is much more aware of it all now that she is in 1st grade and see's how she is different than her classmates. Thankfully there are great resources out there to help us all out. There are great support groups, on-line support groups, and get together's with other MCADD people and FOD people. She has met other kids with MCADD and I am sure as she gets older it will be a great resource for her to talk to them about their struggles in life. Each year brings different challenges we have to sort out and work through but she is one tough kid, loves life and is really great at being aware of her health and what she needs to do to take care of herself. I couldn't be more proud of her! Through her MCADD journey she has decided she wants to be a doctor so she can help other kids! If you would like to read more about MCADD and FOD's a fellow MCADD mother wrote a fantastic article about it. It's called The Challenging World of Fatty Oxidation Disorders. I encourage you all to take a look at it and learn more about it! Thanks for reading! Click HERE for the article 

What To Ask At A Daycare Interview

I ran my own licensed child care out of my home for a while before I stopped to focus on getting my health back on track. I get a lot of questions from people about daycare so came up with a question list.Hope it helps you out when you are interviewing them looking for a good fit for your child. 

Are you licensed

How long have you been in business 

How many kids do you have and what ages

Are you a part of the food program, if not what do you serve 

How many meals are provided in a day

Is baby food and formula provided 

Do you change to whole milk at 12 months old 

What do the kids nap in and where 

Do you have animals, have they had their updated shots

Do you have a contract 

What is your rule for giving notice if we decide to leave daycare

Do you take a paid vacation 

Do we get any free sick or vacation days

Do you have a sub. if so is she legal, background check etc

What classes have you taken? Are you SIDS/Shaken baby certified and CPR/First aid

Do you do field trips, if so have you taken the child safety restraint class

Do you have references

What is your sick policy

Do you use a curriculum 

Do you go outside daily, whats your rule for weather temps

Do you use a pool 

When putting babies to sleep do you follow the sleep on their back rule, nothing in crib, no blankets etc

Whats your rule on pacifiers

What do you do with infants when you do crafts 

Do you use monitors at nap time

Do you use web cameras, security cameras 

Does pricing change with age 

Whats your drop off and pick up policy

Do you do daily status sheets to go home with child

Do you provide wipes 

Whats your potty training policy 

Do you do a newsletter or monthly calender 

Do you do cash or direct deposit 

Do we pay weekly 

Do you give receipts for taxes and how often 

Do you do full time and part time care

What are your hours of operation 

How To Survive A Hospital Stay When Gluten Free

Piglet has had many hospital stays in her young life due to her metabolic disorder called MCAD, its a kind of an FOD (Fatty Acid Oxidation Disorder) if you feel like looking it up. She was born with it and it will be life long. Before she was diagnosed with Celiac Disease 3 years ago, we were in and out of the hospital every 2 months, it was horrible. At that time we didn't know gluten and lactose were basically poison to her and what was causing so many hospital stays in the first place. When ever she gets a sickness like the flu and is throwing up she will always have to spend time in the hospital, so its normally at least once a year. Knock on wood, I think we have made it somewhere around 9-12 months now since our last stay. We definitely know how to survive the hospital with such a restricted diet and thought I would share some tips! Its been on my mind lately since baby #2 is on her way soon and since I am gluten and dairy free, I need to prepare to bring all my own food since I also can not eat a thing at the hospital. I also have a ton of food allergies so more restricted than Piglet is in some ways. 

Most of the time we don't have much of a warning when we are heading to the ER with Piglet. So usually when one of us is calling the hospital telling them we are coming and to prepare her special IV fluids we are also running around the house packing a quick bag and grabbing snacks we have available in the cupboard and fridge. We know that will get us through a few hours at least. Items we tend to grab are: Gatorade, popcorn, crackers, cereal, and fruit. Quick stuff that has some carbs for Piglet if she can eat at all once the IV is in. The snacks are also for me because I can't eat anything there and there are no options in a vending machine. We are usually in the ER a very long time before being transferred to an actual hospital room upstairs. Most of the time poor Piglet isn't feeling well enough to eat much of what we bring.

If its not a planned trip and rushed like most of ours, we have to rely on family, friends, each other and food delivery. Usually one of us can go run to the store and get some snacks and easy meals. Luckily the new children's hospital now has a mini fridge and freezer right in the room along with a microwave so that has been really handy. Before they built the new hospital the old one had a family room that has a shared kitchen that we would use. Keep in mind all of those items are shared so they are not safe for people with Celiac Disease and are gluten free. But it still had the fridge, microwave, paper plates, and plastic silverware we could use. I would imagine most hospitals have rooms like that. At the old hospital they had a huge book of restaurants that would deliver food at all hours. This was a life saver because lucky for us there were actually places close by that had safe gluten free choices. Once we moved to the new hospital in a new location we no longer had that option so had to get more creative. Make sure to ask the front desk if they have a list of food places that deliver to the hospital. Its spendy but a life saver when you are tired and stressed out.

Rely on others to help you, don't feel bad about asking because you need safe food and don't want to feel worse on hospital food that will just make things worse and possibility cause a longer hospital stay! Like I said before, one of us can usually run to the store. If not I ask my mom to bring a bag of items we can eat since she knows what is safe. And just because I like having references so I don't forget things I have created a folder on Pinterest that lists a ton of gluten and dairy free items that are safe and taste good. If I need to tell someone what items are safe to buy, I reference them to look at that folder. Or tell them it has to say gluten free and dairy free right on the item. You could also create a paper folder to keep someplace that lists items you can have so someone can reference that if they need to.

Easy things to pick up last minute:

• Crackers
• Popcorn
• Cereal
• Fruits and Veggies
• Lunch Meat
• Drinks
• Bread
• Salads
• Oatmeal packs
• Prepared Noodle Packs that you microwave
• Rice Packs
• Yogurt
• Fruit Cups
• Beef Jerkey
• Nuts
• Nut Butters and Jelly 

Some hospitals actually have a gluten free menu from what I am hearing from other people so make sure to ask. It would be so nice not to have to worry about going and getting your own food if you really don't have to and can trust the food staff! Our hospital does not do gluten free but we have gotten some things from the menu and haven't had a problem. Piglet sometimes gets jello, rice chex in the little box so its sealed and we know its safe, Popsicle, sorbet, fresh fruit, and veggies. 

As for my upcoming hospital stay, it is planned since I am having a baby so I have the advantage to plan ahead and pack as much food as I want. I will probably mostly go off the list above since its easy food to bring and prepare. But I can also plan some fridge or freezer meals if I want and have those ready to go so I can just grab them as we run out the door. That way I can just microwave them at the hospital. I plan to make some crock pot meals ahead of time and then just break them up into smaller portions to freeze so its easy to bring with. Now to actually remember to grab them when in labor! I also plan to call the hospital so I can talk to a dietitian, maybe the hospital would be willing to order some gluten and dairy free items, it doesn't hurt to at least ask! This would be easier if it was an actual scheduled date vs a two week window where I may or may not go into labor. So easier for those of you that have a planned surgery etc. 

Aside from the food side of being gluten free, always make sure the medical team is always giving you gluten free meds. Some are not safe, so make sure to verify they are so you don't get sick! You can request a wrist band that says Celiac Disease. Hope this helps a little! 

Here is Piglet when she was younger at the hospital. Going around and around and around the children's unit at 2am