We Didn't Know We Had So Much to Learn

Hey everyone,

It’s been a while. Ive had so many ideas lately what things I want to share but haven’t had the time to actually sit down and write.

I want to tell you about our trip earlier this year. We were invited to a friends wedding in Florida. We took this opportunity to visit family and turn our wedding invitation into a mini vacation. Like any other mother I wanted to make sure my girls would have everything that they would need. Because of Jasmine’s condition, I always pack her medical supplies bag first. That way my head is clear unlike when I get to my own bag I’m throwing whatever comes out of the drawers and stuffing god knows what right in because by that point I’m exhausted and I want to sleep before we leave at the crack of dawn. I don’t know about you but this is ALWAYS how it happens at our house.

Anyways, the medical bag goes first. For days and sometimes weeks before we leave for a trip I call all of her suppliers and make sure that we will have what we need delivered before we leave. Sounds straight forward, but sometimes it turns into a lot of calls before hand. Of course I always over pack her supplies because you never know what could happen and when your traveling you cannot just stop into the local gas station and buy g-tube extensions or specialty medication that gets overnighted from California.

Other than the medical bag the rest of the packing is just as it is with any normal family. I pack the girls a bag with a million diapers and socks and as many outfits as I can find. I move on to washing all of my dirty clothes last minute because everything is always last minute when we are getting ready to leave.

There is something that we didn’t know we needed to prepare for.

Jasmine 

Day one of our trip and Jasmine is in great spirits playing with family and running around. I made sure to give her extra fluids and make sure she didn’t over exert herself. The next morning Jasmine woke up and I gave her the regular medications and formula that she gets everyday through her tube. Minutes later she starts vomiting wildly. Everything came back up and her poor body kept heaving. Seconds later (its been 5 minutes total) Jasmine goes dark. Yes, it happens that quick. She’s completely unconscious and completely unresponsive. At this point I calmly clean her up and start packing as I call her specialists in DC (remember we are in Florida on vacation)!!! We let her doctors know we will be heading to the ER and need to know where they recommend to go (NOT WELL PLANNED, see my post on why you should always carry an emergency letter). The whole time my mother is watching, completely HORRIFIED. I didn’t realize she had never seen Jasmine have an ammonia crisis.

I’ve been explaining this process to my family and friends for the last year. I’ve been trying to tell them what happens and how scary it is, but apparently its one of those things you have to see for yourself. We went to the nearest capable children’s hospital and learned very quickly that Jasmines condition is in fact very rare. The nurses were “googling” her condition before entering our room. It was the biggest eye opener. We didn’t know what kind of serious preparation needed to go into traveling with a chronically ill child. This trip turned into a learning experience not only for us but as a truly eye opening experience for my mom. Not that she didn’t understand when I told her Jasmine’s condition can be serious but finally she had witnessed the very terrifying experience of seeing it first hand. I think we all take things a little more seriously now.

Jasmine showing off her cool bracelet

Rare sight- Jasmine eating after getting fluids

The Day our Lives Changed. What I Would Tell Myself to Do Differently.

I’ve decided to take the challenge and answer the question by TheMighty.com: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself?

You’ve just had a baby. You loved when it was just you and Jasmine but now she has a sister, and that’s ok. You can make it work. The past few months have been rough because jasmine has been pretty sick and it has been getting worse. She skinny and she refuses to eat, but you’re doing your best.

As you’re sitting in the doctors office waiting on the results, the doctors are asking a lot of family history questions and you’re not sure what all of this means. You were just discharged from a different hospital yesterday after four days of test after test. You thought you left with just acid reflux medicine- wouldn’t that have been nice…..

The doctor comes in and tells you Jasmine will be admitted on the spot because her ammonia is well over 200. You’re thinking wait a minute she looks fine… He explains normal people with ammonia this high are likely in a coma. What’s ammonia? Don’t worry, you’ll be an expert in just a few short months. 

Wait a COMA? Take a deep breath.

Remember that she is alive and hasn’t suffered serious mental delays. You don’t know it now, but you are so lucky and Jasmine is so lucky that you found out when you did. She could be in much more serious trouble.

Jasmine and her baby sister at the hospital 

The next few hours of confirmations and test will define the rest of your life. Your life is about to change in ways that you can’t even understand right now. Even after months I would tell you its still going to be a hard step learning curve.  Stay strong.

Jasmine being transported by ambulance

First I would tell you, It’s ok, everything will be ok. Cry everyday if it makes you feel better! Don't be ashamed to cry. It’s ok to wonder if she will be able to remain as normal as possible. It’s ok to worry about things like quality of life. Relax because all things considered she should be just fine. It’s going to take a long time, but she’s alive and with a lot of work you can get her healthy.

Next I would tell you to ask all the questions you can and write everything down. Every time she gets hospitalized they ask the same questions and she’s going be there a lot in the next few months.

Educate everyone around you. Make sure early on that all of your family and friends are familiar with her condition and her needs. You’re going to need a break. Knowing you, you will push and push and try to do everything yourself, but you cant.

Try not to compare yourself or Jasmine to other kids and their situation.

As you read through Facebook you are only going to hurt yourself by reading what all of the other kids are doing while yours is stuck in the hospital getting a feeding tube put in. This is your new life, your new situation and you need to own it. The sooner the better cause you are only going to stress yourself out.

Last, don’t be surprised if you feel like you’re failing her everyday. Don’t be ashamed to ask for help and do it as soon as possible. Don’t be worried if she doesn’t get her medications at the exact second that you had planned in your head. Learn to accept that she isn’t going to eat like a normal child. Give yourself some slack cause you have two kids and this is a lot to handle for anyone.

Above all else, THANK GOD that she and you have made it this far. Count each day is as a blessing that you get to help her through this part of her life so she can grow and become a young woman. You will be there for her then too, but right now she depends on you to stay alive (a little more than most) but by the grace of God you’re going to see her through it. You are luckier than most, never forget it.

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.