Ava's Urea Cycle Disorder

It has been 6 months since our daughter was diagnosed with Urea Cycle disorder.

For those who are unfamiliar with this here is a brief description from The National Urea Cycle Disorders Foundation...

Urea cycle disorder is a genetic disorder caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream.

In urea cycle disorders, the nitrogen accumulates in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death.

Urea cycle disorders occur in both children and adults. Newborns with severe mutations become catastrophically ill within 36-48 hours of birth. Children with less severe mutations present outside the newborn period or can remain undiagnosed because symptoms are not appropriately recognized.

Metabolic stressors like viruses, high protein intake, excessive exercise or dieting, surgery, or a drug (valproic acid, prednisone or other corticosteroid -- can create excessive ammonia in the body and overwhelm the individual's urea cycle enzyme function, resulting in severe neurological symptoms. Seemingly normal adults with undiagnosed urea cycle disorders may present at emergency rooms with staggering, confusion, combativeness and disorientation that is mistaken for alcohol or drug intoxication. Ammonia quickly rises if untreated and causes coma and death.

Six months ago Ava 3yrs 7mths had a typical tummy ache and didn't feel like eating for a day, and mainly sipped water. We consulted our family Dr. with the usual concerns of possible dehydration etc... We woke to Ava in what appeared to be a seizure - she was completely unresponsive. The paramedics tried to rouse her to no avail; she was not responsive to pain tests etc...but her vitals were still ok. She was rushed to the hospital they examined her very quickly. Her blood ammonia toxicity levels were very high and other tests confirmed brain swelling.

They swiftly started dialysis and were able to get her ammonia levels under control. Thankfully because of the urgent care she received Ava came out of her comma later the following evening.

So far it would appear that there has been no neurological damage.

So how do we keep her healthy, and from having this happen to her again...

We hold vidual over every meal to ensure she gets the correct gram weight of protein in combination with calories and medication. Children with UCD can sometimes have extreme food aversions and often lack appetite (due to excess serotonin in the brain suppressing appetite), as a result of the condition it is extremely difficult to balance protein, calories and the required daily nutrition needed for a healthy developing active child.

Many children must have a G-Tube inserted into their tummy to receive the correct balance of protein, nutrition and meds. So far we have been lucky and Ava has been able to take in enough in careful quantities to sustain her health. We are however heading into the cold/flu season and this can be a very dangerous time for a child with UCD, it's very difficult and frankly impossible to keep her from getting sick so we are hopeful, and will see what the next few months have to offer.

If Ava becomes ill and cannot orally take the food and meds she needs she will be fed temporarily with an NG-Tube.

The next several months hold a fair amount of uncertainty for our family, but we have amazing support through Doctors, family and friends.

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  1. Thanks so much for raising awareness of urea cycle disorders and quoting the information from our website! Thanks for sharing your great Montessori materials and resources, as many of our families do home school. Please keep in close touch and keep me posted on how Ava is doing. I hope you will join us over in our ReachUCD community!
    Best regards,
    Cindy Le Mons
    Executive Director
    National Urea Cycle Disorders Foundation
    My family is affected by OTC deficiency

    1. Thank you Cindy:)
      I can't even say how wonderful it is to have you visit our blog.
      Your Foundation is amazing!!! I found such useful information that was so beautifully written and easy to comprehend . I actually found you when I was frantically searching for information in the hospital as Ava was having her MRI. What a blessing you are...thank you for all that you do:)

  2. Hello, my name is Briana and I follow your blog. I am a wife and young mother of three. We plan on starting Christian Liberty Press and supplementing Montessori for my son's upcoming kindergarten year. I use many activities with my children that you post. I think you are a wonderful teacher and an inspiration to stay-at-home parents and homeschooling families. Our family will be praying for your daughter. God bless from Texas!

    1. Briana...your kind comment comes at a time when I could really use one. Thank you so much for your sweet words and prayers. I hope you visit us often:)

  3. Hi Cherine,
    Thank you so much for your blog and this post about your daughter. I have been following your family from afar (Ireland) for several months now. I have three sons under five and know how precious children's health is. I'm sorry that Ava has been so unwell. I am going to pray for her now so I don't forget. May Jesus the great physician give her healing.

    1. Thank you Kate:)

      Thank you for thinking of us, and your precious prayers are so greatly appreciated. We are so optomistic and hopeful:)

  4. Hi Cherine! I have my Google alerts set for anything related to UCD's and your blog came into my inbox today. I am glad to hear that Ava is doing well! What a shock it must have been to discover her late onset. I'm also thrilled that there is another blogger out there spreading the word about Urea Cycle Disorders too! Our family lives with UCD as well, and if you would like to connect with more bloggers, there's a list of UCD bloggers on the right column of my blog. Good luck, and hope to see you over on REACH UCD!!!

    Mindy ( www. mooneyequalsmc2.com )

    1. I will do that:) I have been thinking of doing another blog about Ava because there are many things we'd love to share. This is very new to us right now and so shocking. It is hard to comprehend sometimes exactly what has happened, and that UCD is with us to stay.
      I so appreciate your connecting with me here:))

  5. Thank you Cherine for sharing Ava's story. My daughter Maia was diagnosed at age 6 with the UCD- ASA. As you are probably finding out kids with UCDs can drastically vary. Maia (now 13) has been able to manage her healthcare with a regulated low protein diet and arginine. Fortunately we have made it through illnesses with no hospital stays since her diagnosis. Our thoughts and prayers are with you and feel free to contact me if you wish.

    Amy Cooper- amyrenaecooper@hotmail.com

  6. Thank you Amy for sharing this with me!!! This is so very inspirational because we are hoping she can manage with Citrulline and diet. We asked our Dr if this were possible.
    My prayers are with you also ....no hospital stays... that is music to my ears:))
    Thank you for your email and contacting me - I'm sure I'll have questions:)
    Thank you!!!

  7. Just read all the comments. How wonderful to makes these connections and now to have this support. I KNOW you guys are an awesome family. We are blessed by you. <3<3

    1. Thank you Anita...we are very blessed to have you:)


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