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.