Our Family and Some Holiday Confusion

If you have a kid then you know it’s hard to be a parent, it you have two kids, then you know its much harder than having just one. If you have more than two kids… God bless you cause I’m struggling with two!

Around the holidays and family parties you know that your kids are running around and you think you’re able to relax and let your family help. For some reason people want to just shove things into your child’s mouth. You want to swipe cookies?…. Awe that’s cute… You want candy? Sure, Don’t tell mom!

Here's some fun facts, consider: What did you feed your kids for the holidays? Jasmine can only have 2g of protein per meal. 

Mashed Potatoes - 4g Protein (1 Cup) 

Ham- 4.6g Protein (1 slice)

Sweet potato - 2.1g protein (1 cup)

Cookies?

Peanut Butter- 8g protein (in 2 tbsp)

Chocolate - 1.4g protein (1oz)

We have been visiting my hometown for the holidays and spending time with my family. This means there are a lot of questions about Jasmines “Condition”. You can explain and explain but there are things that parents with normal children just cant understand.

So why do I have family trying to talk her into eating cheese and crackers before dinner?

Cheese slice - 5g of protein (1 regular slice)

Our family is ALWAYS trying to HELP. And in their attempt to help they think that maybe her actions should just be punished away. She’s whining to much today and lashing out, so she needs to be punished. She puts everything in her mouth… she’s two. She isn’t sleeping like normal children, something must be wrong. Yes, she has a MEDICAL CONDITION. She is physically attached to a feeding pump most nights so its hard to let her just cry it out. Also, I get defensive because I, like every other (normal) parent in the world is trying my best to do what I need for my children.

Also no one quite understands her eating issues. Right now she is scared. For months every time she ate she would get sick. We are slowly trying to teach her that its OK and that as long as she eats what she is supposed to that she will not get sick. But how do you tell a two year old and make them understand? News flash…YOU DON’T. Thats why she has a FEEDING TUBE!!!

The old saying “they will eat when they are hungry” just isn’t the case with Jasmine.

I have had to come to terms with the fact that I can’t make her eat. This isn’t something that I can force.

Jasmine watching her "current favorite" movie Monsters Inc

Dealing with family for the holidays can be tough, and if you have kids, stopping your family from feeding them random crap can be hard. If your child has food allergies or sensitivities you need to pay very close attention. No resting during the holidays for you!

OH GOD… Now I have to learn how to actually cook vegetables!!!

When I was growing up we loved frozen chicken nuggets and hot dogs and plates of pasta and meatballs. I absolutely LOVED mashed potatoes. As a mother I was feeding my daughter what I thought she needed. She had gotten skinny so naturally I was trying to sneak protein down her throat only to be discouraged when she puked later that night.

What I didn’t know was that her body couldn’t handle the protein. How was I supposed to know my daughter had a rare disorder and she couldn’t tolerate protein in large quantities? When I say large quantities, I’m talking about half of a hot dog. How could I have known?

Jasmine eating Veggie Straws (very low protein)

One of our first days after her diagnosis we had to learn how to count proteins. You think you know what proteins are right? Meat? NOPE!

There is some amount of protein in EVERYTHING. We had to learn that fruits have protein and vegetables have protein. It’s a small amount but when you have 6g of protein allowed for the whole day and an apple is 1g then you need to pay attention. A snack bag of Lays potato chips is 2g of protein. So a snack bag of chips is one whole meal allotment for her. Carbs have high protein, whole wheat (healthy right?), brown rice...too much protein!

As she grows she will be able to tolerate more protein. Her protein allowance is determined by her weight. There are some disorders that only allow 3-4g of protein intake for the rest of the patients life!!!

One thing the dietician suggested was to start journaling everything she ate or didn’t eat and keep track of the proteins and calories. For some reason I have found this to be very difficult. I cannot get her to eat most of the time and its depressing to write it down. It feels embarrassing for me to have to call the dietician constantly to tell him she’s still fighting to eat.

Most toddlers don't like vegetables to begin with but how in the world do you get your picky two year old, who doesn't eat because she associates it with puking, to eat vegetables? I guess I really need to learn to cook and be creative. If you ask my husband he would tell you cooking is definitely not my forte. 

Another thing we are having trouble with right now is our family’s anxiety about feeding our child. Some of our relatives are anxious and don’t want to feed her anything at all because they are unsure. Others are all too eager to shove whatever she wants down her throat. “Peanut butter has too much protein!” Sometimes I feel like I’m constantly spying on everyone as they try to feed her things.

There are people on the Urea Cycle Disorders Worldwide Facebook Page that have reassured me that this will get easier and that she will learn how to manage her protein intake on her own. That day is not today so I will take a deep breath, pray and continue to fight because my daughter needs me.

Our Decision to get a G-Tube

When you start talking about feeding tubes people get FREAKED out. Family and friends that watched our daughter (without a second thought) were now afraid to touch her and hold her. They are still scared to watch her for any length of time.

After our first 24 hour hospital stay and initial diagnosis,and after they explained in detail how dangerous her situation was, the doctor gently suggested that we discuss an option to learn more about a "g-tube".

Jasmine and her G-Tube

The G-Tube is a direct port from the outside to the inside to her stomach. We hook up a tube extension and push in what we need to. In the picture above I am giving her juice for calories and then flushing with water. It is important to keep the tube clean inside and out. 

It is important when kids like jasmine refuse to eat that they receive what they need or their body begins to break down their own protein. In her case when her body's protein floods her system her ammonia spikes. He told us that in extreme situations the tube could save her life.

We were sent home with two medications and special formula that she had to take or she would be in danger.

We tried everything, lots of mixing things with apple sauce, we tried to flavor things but she refused everything. 

My husband tried to reason with me "she's been refusing to eat for months" "this isn't going to happen over night". The first hospital we were admitted to kept using the term "malnourished" like I wasn't feeding my child. The truth is I fought (and still do) every single day to get my child to eat.

I felt so defeated. I felt like I had failed. I had failed her.

We returned the next morning to Childrens National Medical Center with our bags packed. We were ready to stay. My husband told me he wasn't letting her leave that hospital without a G-tube.  I couldn't imagine living with this stress of not being able to give her the medications she desperately needed. I agreed. It was the right thing for us to do.

Jasmine had to get a feeding tube through her nose and down into her stomach to get her new formula into her body because there was absolutely no way we could get her to drink it.(It tastes like flour water it's really gross by itself.) We tried every form of mixing it and adding flavor but she wasn't having it. We had tried to shove so many things down her throat that she had completely shut down. She pulled out her feeding tube five times the first day. We had to stand by and watch as the nurses hold her down and shove it back in each time. She screamed and I wanted to scream.

We had to wait for days to get the approval all the while we were holding our daughter down and forcing medications down her throat while she screamed bloody murder. We had to do this three times a day.

The morning of her surgery I drove as fast as I could to get to the hospital sick to my stomach that I would miss seeing my little girl before surgery. I left at 6 am but they came to get her early. I had to beg the ladies to let me back to see her before they took her.

I started to doubt my choice I started to worry about everything. She came out of her surgery and when she woke up she wanted me to hold her. My baby.

After all of the pain and getting her through the first weeks after her surgery, it's the best decision we have ever made. The "tube" as we call it comes with its own set of problems. It's a long and difficult learning curve and it's scary as hell, but at the end of the day we know that we can get her the medicines and formula that she needs to survive right now. She may have her tube for a few years or she might choose to keep it for life. All I know is until she learns how important it is for her to take her meds and formula, I know that I have one less thing to worry about.

So you have a diagnosis…. Then what?

The first thing I thought was “great now I know what is wrong with her and we can fix this”. Everyone wants to tell you that now you have a diagnosis- its great, but then they go on about their lives and what do you do?

I panicked. OH MY GOSH…. I have a kid with a medical condition…..

Yes I have a “diagnosis” but now what? What is going to happen? What am I going to do? How will this affect our lives?

Jasmine had to get an IV in each hand. 

How do I tell my family and friends? How do I explain her condition?

The doctors explained it over and over and we thought we understood what was happening and we thought we understood her condition. What I didn’t realize was that I wasn’t ready to answer questions.

I called my mom and tried to explain. I tried my best to make it simple and help her understand. “She can’t process protein. There’s a process that your body goes through called the Urea Cycle. At the top of her cycle her cycle stops working. Ammonia builds up in her system and she can’t flush it out.”

Jasmine in her hospital bed playing with toys

I must have tried to explain this to every one of my relatives and yet each time I felt as lost as they were. Truth is, I wanted to crawl in a corner and stare off into space. I didn’t know what to tell anyone anymore so I stopped talking to anyone I didn’t have to. I went into survival mode and shut the world out. It felt like none of my friends and family could possibly understand how I was feeling.

We brought Jasmine home from the hospital after just 24 hours in complete shock.

The doctor suggested that we find groups for her condition. We found the National Urea Cycle Disorder Foundation, the NUCDF Facebook page, and my favorite so far, the Urea Cycle Disorders Worldwide Facebook page.  Reading about others who have what Jasmine has and to hear that they are alive and healthy and living with their condition was so helpful. The community for Urea Cycle Disorders has been a life saver. 

After receiving Jasmine's diagnosis it has taken months for me to fully understand her condition and I am still learning. It has taken months for me to even tell people what has happened to our family. People think that the world is a better place once you receive a diagnosis, like as if the clouds open up and the sun shines through, but in this world a diagnosis is the beginning of a long journey. It is a life long road of working to stay healthy. In Jasmine's case her condition is now her life, she will not "grow out" of it, she will never "recover" from it (unless she needs and receives a transplant) she will carry this with her all the days of her life. 

Jasmine's long road to a diagnosis

My child has a rare disease... WHAT?

          Jasmine at 7 months was a happy baby.

Our daughter Jasmine had been puking on and off since she was a year old... When I tried to switch her to whole milk she threw up the most disgusting puke ever. So that only happened twice before I went and bought soy formula for 12-24 months... She did pretty well until about 18 months when she decided she was done with the bottle. Then we started noticing that she slowly stopped eating certain foods. She would have days where she puked and would be lethargic all day. And then the next be up and happy. We called them her bad days... The pediatricians told us they thought it was her teeth coming in. Each time we would take her in and they would say push fluids and we did... Sure enough she would perk back up and we figured everything was ok. 

Fast forward to 21 months and we had our second daughter. Jasmine slowly started to refuse more and more foods and somedays all I could get her to eat was strawberries and chips and French fries. I would literally offer her every thing under the sun and she would scream and kick and fight. She started puking more often. Most of the time it was in the morning. Either she would already be awake or she would wake up from her sleep and puke only to go right back to sleep!!! Jasmine had dropped down to 23 lbs and she was skinny. I realized that her diapers were bigger on her than before and that she had gone back to fitting into her 18 month clothing. 

These episodes got more frequent and started to concern us more and more. So once again we go to the pediatrician and she recommends going to an allergist. "Maybe she's allergic to something you're feeding her", she says. So here I am trying to pay attention to what she's eating and focus on possibly allergies. 

So we went to the allergist and turns out she's not allergic to anything on their panel. So the allergist says to go see a gastroenterologist.

A week or so later Jasmine pukes three nights (4-6am) in a row. So I called the GI and made an appointment. The following Saturday she puked... As usual... But puked once and then fell asleep and then puked a second time (dark brown in color) then fell asleep, then puked a third time- the puke was almost black but had bright red specks in it. So we rushed her to the nearest ER.

The ER said she probably tore something in her esophagus and transported us to Inova Children's Hospital (more on them later). So they figured she had reflux and gave her antacids and fluids. They did a scope and discovered she was slightly inflamed but her torn esophagus had healed. Something was puzzling the doctors. They kept telling us her liver function tests were high. She told us that she didn't feel comfortable with her levels. The doctor thought to check her Ammonia levels which were also elevated. Normally this is not something that anyone seems to check! It's not standard. THANK GOD SHE DID!!!

We were discharged and referred to the genetics department at Childrens National Medical Center. 

We arrived at 9:30 for our appointment to draw blood. They came to get a history from us and talk to us about what they thought could be the problem. We were admitted immediately because my daughters ammonia levels were over 200. They later told us that a normal person would be in a coma! I was shocked because I had no idea she was in serious distress. The doctors were puzzled because she looked for the most part outwardly normal. 

As a mother my head is spinning and I'm starting to get that feeling like you're floating above the situation and all you want to do is scream.. "No, this is not happening". "This can't be happening to me". I worried about her quality of life and if this would affect her life and would kids make fun of her? The doctors told us we would have to start medications and special formula multiple times a day. For a child who had been self diagnosing for months and had decided that not eating was better, it was very stressful to hear that I would have to figure out how to get something else down her throat. 

They quickly ordered more tests and discovered she has OTC-  or Ornithine Transcarbamalyse Deficiency. The explained over several hours that she isn't able to process protein the same as everyone else. This condition is classified as a Urea Cycle Disorder or UCD.