rare disease day 2010-citrullinemia

Hello friends!

Today is a very important day! 

Today is  Rare Disease Day sponsored by the National Organization for Rare Disorders.

Why are we highlighting this day?

(taken from the Rare Disease Day website)

“The rare disease patient is often the orphan of the healthcare systems around the world. These patients often go without diagnosis, without treatment, without research and without reason to hope”

Nearly 30 million Americans are affected by almost 7000 rare disease ( National Institute of Health)

As most of you know…Corrigan has a rare disorder called Type I Citrullinemia.  Corrigan’s disorder affects 1 in 57,000 people worldwide.

 

(we made a sign. it got slobbered on. wonder how that happened?)

 

What is a Urea Cycle Disorder?

A urea cycle disorder is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to urea. Normally, the urea is transferred into the urine and removed from the body. In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, and is not removed from the body resulting in hyperammonemia. Ammonia then reaches the brain through the blood, where it causes irreversible brain damage, coma and/or death” ( NUCDF  website)

(there may, or may not, have been something taped to the back of the sign to hold Cor’s interest)

 

When Corrigan is what we call citru-sick” ( not an “official” term…just one that we use to differentiate between regular sick and sick with his disorder) he displays some of the following symptoms

  • Anorexia (the human body is amazing…it knows it is unwell and therefore refuses the very thing that is making it sick…food)
  •  
  • Irritability  (Corrigan becomes agitated and aggressive)
  •  
  • Heavy or rapid breathing  (When his ammonia was very high, shortly after birth, his breathing was like a long-distance runner…his body’s way of trying to rid the ammonia just like a runner huffing out carbon dioxide)
  •  
  • Lethargy (this is a sign that things are deteriorating quickly. Corrigan is often agitated and angry first, then manic and “drunk” and finally lethargic…once he becomes lethargic and limp…the clock is already ticking. This is scary stuff.)
  •  
  • Vomiting  (I thank the Lord each and everytime that Cor is citru-sick that He made it so that Corrigan vomits when his ammonia is rising. Not all children, with dangerously rising ammonias, vomit as a symptom and it is much harder to tell when things are deteriorating…thank goodness for emesis!)
  •  
  • Disorientation  (Corrigan has not experienced this yet. I have heard that sometimes the children do not recognize their own parents when hyperammonemic. How frightening.)
  •  
  • Somnolence (Corrigan gets VERY drowsy when his ammonia is over 100. It is nearly impossible to stop him from slipping off to sleep as the ammonia begins to poison his brain)
  •  
  • Asterixis (rare)  (flapping of the wrists…Corrigan has never experienced this)
  •  
  • Combativeness (oh my, yes.)
  •  
  • Obtundation  (I believe that this means “confused”…it is hard to tell when a baby is confused…but Corrigan definately can appear to be “drunk” when hyperammonemic. He also becomes strangely manic right before he becomes sleepy. He will flip back and forth, with little regard to his surroundings, stumble, have a hard time sitting upright and will laugh…at odd times)
  •  
  • Coma  (we don’t like to talk about this)
  •  
  • Cerebral edema ( I don’t know. The doctors have never said)
  •  
  • Death (if treatment is not forthcoming or effective) <—obviously not!
  •   

(this is how Corrigan feels about coma and death)

 

Corrigan is being treated by a wonderful team at John’s Hopkins hospital in Baltimore, Maryland.  He benefits, daily, from medicine, arginine supplementation and a medically restricted diet. Corrigan is, for all intents and purposes, a vegetarian.

There is no “cure” for a Urea Cycle Disorder (yet!) however, transplanting the liver removes Citrullinemia from the table (but has its own host of health issues) 

(balancing things on his head is NOT a symptom of his disorder…nor is his love for sweeping up doghair with his hands)

 

Citrullinemia isn’t something that you can see on the outside. By looking at him, I am sure you would agree that he looks perfectly healthy. However, Citrullinemia is sneaky, cruel and potentially lethal…every single day. We try not live a life of fear. I plan to teach Corrigan that he has a disorder but it isn’t an excuse. It is a challenge…one that I think that Corrigan will be up for…my beautiful, stubborn and strong-willed little boy.

Corrigan has been “healthy” for nearly 8 months now.  By “healthy” I mean that he has not had any hyperammonemic/emergency episodes since the weekend of July 4th, 2009.  This stretch of metabolic stability is after a 13- month period that Corrigan experienced 11 hospitalizations.

 I thank God, daily, for his continued stability.  I know that, at any moment, we could find ourself in the same place that our pal, Coulby, is in right now.

Coulby changed everything for us one special day in June of 2008.

We had read all of the information when Cor was first diganosed , we had heard from the doctors, we knew that we were facing a lifetime of unknowns…possible mental retardation…even the loss of our child completely…and then in walked Mr. Coulby.

Four-years old…all smiles and bright, intelligent eyes, shy but social…so  normal.   I could barely breathe just looking at Corrigan’s possible potential.

The brightest light in the world, to us, that day.

Proof that sometimes what you read is wrong. That there are exceptions to every rule.

Something to hope for.

…but today Coulby is citru-sick, after 12 months of excellent metabolic health, and my heart hurts for his Mama.  My hands want to rub Coulby’s hair.  I wish that I were closer to hand out lots of hugs, copious amounts of coffee (to Murissa, not Coulby!) and lots and lots of gossip magazines to take Coulby’s brave Mama’s mind off of this recent reminder that her boy is living with a rare disorder.

I am glad to spotlight Citrullinemia today…for Corrigan…and Coulby…and all of our other friends that want nothing more than to take away their loved one’s pain.

Everyone deserves a chance at a cure…no matter how rare the disease.

Remember…

By ourselves we are “rare”….together we are STRONG!

 

 

22 thoughts on “rare disease day 2010-citrullinemia

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  2. I sit here in tears. I was completely ignorant of this disease. God bless you, your BEAUTIFUL boy and his sweet friend, Coulby. All of you will be in my prayers from this day forward. You are so strong. Thank you for sharing this. I’m sorry for your pain and I wish you continued health!
    🙂
    Traci

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  3. Hi, I have a daughter with citrullinemia.I was just curious, was the transplant an option for you? I am currently trying,but not having much luck. Any advice or information would be greatly appreciated. I do hate this disease.My daughter was one of the ones with cerebral edema which resulted in brain damage. I always have hope.Thank you. Take care of you and your famiy.
    Dendra

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    • Dendra,
      It has been mentioned as a possibility for Corrigan but he has had 8 completely stable months now…and we are not willing to trade, as they say, “the Devil we know, for the Devil we don’t know” Transplant is a HUGE decision…not to be made lightly and typically for children that are continually hyperammonemic despite good diet and medical management. Corrigan has settled down since his rough first year and has shown good metabolic stability…so I think we made the right decision for our family.

      Of course, if his body suddenly rebels and his ammonia is not able to be kept under control..our first priority has to be protecting his brain ( pro-transplant) over all else. We would have to deal with the risks and results of a liver transplant and keep safe his precious brain.

      So far, we havent felt his situation has warranted that dramatic intervention.

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  5. I am writing this in Korea. I have 9 years old nice who has the disease and hope to find out best hospital in the usa. If you can may referr me the best hospital so I can come with my nice? Please let me know.

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  6. I have a daughter who will be 7 next month and she has citrullinemia. She was diagnosed at birth through the PKU screens. I have 2 older children who donot have the disorder. My affected child has not had any high ammonia levels since June 2004. She’s actually doing quite well. She has eaten meat, seafood, and eggs, in small quantities without getting sick. I ask how can this be? I thought maybe she has a partial deficiency but her doc says no. My husband and I have never been genetically tested nor have my other 2 children. We are going to now. I am now questioning if in fact this is really what she has or is the citrullinemia being mimicked. The reason I say this is because where I was living when she was conceived and born, we just found out we were living on contaminated land full of heavy toxic metals and PCB”s. I have done alot of research and toxins can play a major role in bringing about rare disorders or mimick them.

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    • Karrie,
      I had never heard that! I wonder how often that occurs? I would love to learn more. I am pretty sure that Corrigan is correctly diagnosed due to all of his hyperammonemic events but I also know of many UCD kids that are 7,8,10 years old and have only ever been “sick” with their disorder once or twice in their lives! I am so happy for you, that your daughter is doing well! My husband and I are thinking about being tested. I have read a lot of articles lately about “spontaneous mutations” that sometimes the mother is not a carrier after all. That would mean that we could have more children, POSSIBLY, one day and it would likely never occur, rather than the 1 in 4 chance we have if we are both carriers.

      Please keep in touch as you can! Are you on Facebook? the National Urea Cycle Disorders Facebook group is there and is active. The national direct, Cindy LeMons, is a frequent participant. In fact, the recent Buphenyl recall was announced there on Facebook (emails went out to members too) so if you are into Social Networking there are a lot of us there! The support is pretty amazing among Facebook families!

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  7. Thank you so much for that info mooney=mc2! I would have never known about “spontaneous mutations”. I am definitely getting tested. I really feel that I am not a carrier. Do you know of any families that are dealing with this disorder and more than one sibling has it or even if they have multiple children and only one child has it? Is it the first child born with it?

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    • Karrie,
      There are a few families on Facebook that have two children and yes, both have the disorder, but more often than not there is only one child in the family that is affected. I have always admired the courage it must have taken to continue to have children knowing about that 1 in 4 chance. Strangely, a lot of the families I am in contact with…it is their 2nd or 3rd child that gets the disorder, not the first born. We have a 13 year old son that is perfectly fine and unaffected yet our second was born with Citrullinemia. I am going to bring up testing at our next appointment. It would be good to know either way.

      and please, call me Mindy!

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  10. Hi Mindy how’s everything? Good I hope. Listen, I was wondering where I could find the articles that you spoke of about “spontaneous mutations”.

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  11. Karrie Ann, I do not know which articles they were now. It has been so long. I am hopeful that you could Google around and find some information. Since we last “talked” here I spoke to someone in the field that told me spontaneous mutations were a “myth” but we never looked into it any further. I will look around again and see what I can find.

    Everything is great, thanks for asking!

    Mindy~

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      • On the NUCDF website (www.nucdf.org) they mention this in regards to spontaneous mutation..

        “OTC deficiency is acquired in one of three ways: as an X-linked trait from the mother, who may be an undiagnosed carrier; in some cases of female children, the disorder can also be inherited from the defect on the father’s X-chromosome; and finally, OTC deficiency may be acquired as a “new” spontaneous mutation, called a de novo mutation, occurring in the fetus. ”

        From what I am reading it looks like maybe only OTC this occurs?

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