Thursday, January 31, 2013

Frequently Asked Questions

We get a lot of questions inboxed to us, and many of them are similar, so I thought it would help if I answered some of them here. If you have a question, you are always welcome to send it and we will get back to you as soon as we can. We love so many of the sweet messages we get, often times just telling us you are thinking of our sweet girls or that you know of a doctor, treatment or another family dealing with a similar situation.

Q: What is wrong with Addison & Audrina?
A: Addison and Audrina are suffering from some form of a neurometabolic disorder that has not been able to be identified so far. Its expected to be a form of Mitochondrial Disease. We are proceeding with further genetic testing to isolate the location of the problem, but it may be so rare that it cannot be identified for sure. We hope this will not be the case. Whatever you call it, Addison and Audrina are affected by their disease on many fronts. They cannot eat food because they lack the energy to draw nutrients from it - Mitochondria are responsible for metabolism of food. They have very little function of their colon and have complications involving the heart, kidneys, muscles, blood, metabolism, liver, digestive process, and brain. They both have global developmental problems and Audrina has recently begun to have seizure activity as well.

Q: What is Mitochondrial Disease?
A:  "Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems."  (http://www.umdf.org/site/c.8qKOJ0MvF7LUG/b.7934627/k.3711/What_is_Mitochondrial_Disease.htm)

Q: Why do they think it is Mitochondrial Disease?
A: Oftentimes, children with Mitochondrial Disease suffer from neurological regression. They regress with any sort of illness, and become increasingly unstable. That was our first clue, Addison was very typical in her development prior to her regression despite being sick all of the time. There are few diseases out there that attack the entire body, so having many different systems involved is another clue. Their poor muscle tone and acidosis episodes are another. They both show labwork that is indicative of Mitochondrial Disease. There have been other things along the way that have pointed in that direction as well. Many of the things it could be are easier to diagnose and have already been ruled out.

Q: Do they have the same thing? Why is Audrina so much worse?
A: Their doctors are 100% confident they have the same thing. It is not uncommon for siblings with Mitochondrial Disease to be affected to a different extent, because the location of the damaged/dying mitochondria would determine the symptoms. Audrina is worse mainly because she has more primary neurological dysfunction, where Addison's neurological problems are the result of her poor health and nutritional deficiencies. Many of Audrina's symptoms seem to be related to her brain stem function, she has problems controlling her heart rate, respiratory rate, temperature, etc. These things all become compromised and unstable when there is a problem in the brain.

Q: How can the girls be so sick? They look great on the outside!
A: Sadly, this is the nature of these types of diseases. The kids start out looking fabulous and healthy and depending on how quickly they decline, many can look pretty good until they are nearing death. Audrina looks so chubby and healthy despite being off the charts because she isn't growing in height either. So she is proportionately very small for her age. The problem is not that she is too thin, its that she is not thriving, period. Addison has gained 15 lbs since we stopped feeding her food last February - it is amazing and she looks wonderful. Thankfully, her health aside from her colon has been excellent since then. We are feeling pretty good about her current state of health since correcting the malnutrition resulting from her inability to digest. Audrina on the other hand has had a long slow downhill progression since day 1 and her prognosis is much more concerning.

Q: Will they get better? Is there a cure? Treatment?
A: Only God knows what the future holds for them. There is currently no cure or treatment for them, only management of their symptoms to try and slow down progression. We have no idea how long they will live, because mainly our biggest threat is illness, that is going to cause physiologic stress on their bodies, which allows the progression to speed up. We do our best to keep them safe and healthy and hope that they live for a very very very long time. However, our specialists have told us that in general, 80% of children who become affected before age 5 will not live to be 20. It is incredibly rare to be diagnosed before age 1, Audrina is on the more severe end of the spectrum. We have been advised to just take things a few months at a time with her; she is unstable enough that a normal childhood illness could be life-threatening for her.

Q: What does "Chasing Zebras" mean?
A: There is a quote frequently taught to medical students that says, "When you hear hoofbeats, think horses, not zebras." Zebras are the anomalies, the odd presentations, the diseases so rare or difficult to diagnose that most doctors would not have ever encountered them in a normal medical practice in their lifetime. After Addison had rounds and rounds of testing that was not indicative of the underlying problem, a doctor told us we had to start 'chasing the zebras' and soon after, the blog was born.

Q: Have you been to _______ Hospital?
A: We have been to nearly every major children's hospital in the midwest, incuding Nationwide Children's Hospital, Cincinnati Children's Hospital, Cleveland Clinic, University of Michigan and Detroit Children's Hospital of Michigan. We have seen the best of the best.. and consulted with many more. We are currently working with a Mitochondrial Disease expert out of Atlanta, Georgia and we are not actively pursuing care at another hospital at this time. We may consider this though after a diagnosis is made, as we want to centralize our care.

Q: Is there anything I can do to help?
A: Pray! We believe that God is working through the girls and that He is the ultimate physician in regards to their care. Believe with us that He intends to use their lives for a greater purpose. If you are willing and able to donate to help with medical expenses, you can do so via http://gogetfunding.com/project/chasing-zebras-fund

Q: Why are their older sisters unaffected?
A: Brooklyn and Liliana, age 5 and 4, are half-sisters to Addison & Audrina - though you'd never know it, we have all lived together as long as they can remember. Adam and I got married before Brooklyn, the oldest, turned 3. Doctors believe their condition is an autosomal recessive condition, meaning Adam and I may each carry one broken or mutated copy of a gene. Each child we have together would have a 25% chance of being affected. If it is coming from just one of us, then it is a 50% chance each child would be affected. Hopefully one day they will isolate the gene so we can pursue further genetic counseling.

Thanks for your support and love!
Kim (Addison & Audrina's Mommy)


1 comment:

  1. I'm awarding you an Honorary Medical Degree and of course a Family of the Year award plus many others! Thanks for taking the time to post the Q&A's. I talk to others about your blog and this will make it so much easier to explain to them the girls conditions. We are your prayer warriors and in faith with you, know that God is with your entire family. Blessings and continued prayers that the zebra be found soon.

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