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Caden 10yrs & Carsen 5yrs, have a Metabolic/Mitochondrial disease, to which there is no cure or prognosis given. There is only the treatment of symptoms and complications. I imagine one day there will be a cure for such a disease but I doubt that will come in their lifetime. However, we certainly can't give up hope.
 Q. What is a Mitochondrial Disease?
~ Quote from UMDF ~
"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."
~ End Quote ~
The boys have a Fatty Acid Oxidation Disorder/Organic Acidemia called MADD (Multiple Acyl CoA Dehydrogenase Deficiency or aka GAII (Glutaric Aciduria type II). This disorder results in the inability to metabolize all chains of fat and proteins & branched chain amino acids properly. It is one of the most complicated & rare FOD's. It causes accumulated toxins to build up from unbroken down fats/proteins; The boys have bone marrow dysfunction of several cell lines. They also have a Chemotaxis defect (poor function) of one of the wbc’s (Neutrophils) that fight BACTERIAL infection. Carsen also has a low number of Neutrophils and receives Neupogen injections twice weekly, to increase the number of cells…hoping it may also increase “function”. They also have a platelet functioning problem that causes spontaneous and prolonged bleeds. They also share the daily struggles of Pancreatic Insufficency/ malabsorption; hypotonia(low muscle tone.mass); chronic intestinal problems such as poor motility and pseudo-obstruction; fatty/enlarged livers, spleen, kidneys, and pancreas; low bone density. They both get the “achy leg syndrome” that is common in children with FOD’s and is quite debilitating at times. Caden has "metabolic" seizures/dementia that takes him "away" mentally for an indefinite period of time - sometimes 5 minutes, sometimes days. This can usually be treated with IV Dextrose 10%. You can refer to the movie Lorenzo's Oil for an example of this. The boys are also G-tube fed a special metabolic, elemental formula (Tolerex). Without it they would likely succumb to starvation. They also suffer from periodic-EXTREME lethargy; autonomic dysfunction (affecting mainly the heart rate & body temp.); Very high and very low blood sugars; neuropathy, primarily in the legs. Caden suffered a stroke either in utero or in early infancy. Carsen has a severe case of Amblyopia -legally blind in his left eye. Carsen has hypercalciuria and is very painful at times. They have intermittent renal fanconi but consistent RTA (Renal Tubular Acidosis). This is the loss of many electrolytes through the urine. The only treatment is to replace them.
In 2007 we realized that they are losing massive amounts of one of their medications/ Carnitor(L-Carnitine) through their urine. This explains why they seem essentially untreated at times. Carnitor is the primary treatment for their disorder. It all comes down to the kidneys. It's a renal tubal defect that goes hand in hand with GAII & Mito. We have increased their Carnitor in hopes that more will be taken up by the cells. The more they take, the more they will lose but hopefully, the increase will give them a better chance at retaining more as well. Carnitor does several important things. It carries away accumulated toxins from unbroken down fats; carries long chain fats into the mitochondrial for beta oxidation, improves muscle tone, including those muscles we can’t see such as the intestinal muscles.
To learn more about the consequences of Primary or Secondary Carnitine Deficiency:
Carnitine Deficiency
Caden & Carsen also have a Zinc deficiency, which is an essential part of your immune system. Carsen has a T-cell immunodeficiency (functional defect). Aside from transplant, the only treatment option is either IVIG/ Intravenous immunoglobulin. Thankfully a subcutaneous form is now being used.
Carsen started SCIG in late spring of 2007 and is doing remarkably better.
For more information on SCIG therapy you may visit:
Vivaglobin
As many of you, dealing with mitochondrial disease, know... the list of complications doesn't end here, however, I feel these are most prominent in the boys lives.
In a mitochondrial disease, virtually, any organ could fail at any time, with or without warning...Sometimes, following a common cold!
As you read more about them, you will see what sweet & SPECIAL boys we have.
They endure so much but yet their spirits remain unbroken.
Thanks for taking time to let us know you've stopped in by leaving a little "mail" in our guestbook!
"Hope is the companion of power and the mother of success, For those of us who hope strongest, have within us the gift of miracles."
--S. Bremer
The newest Richards family member
Evan Riley Richards
Please take time to visit Emerson's website at Emerson White" Emerson received a second chance at life on June 18, 2008 when she received a multi-organ transplant.
You may copy and paste this link to view Emerson's slide show presenation that was shown at one of her fundraising events.
http://www.photodex.com/sharing/viewshow.html?fl=2996744&alb=0
Eme ~
To view my maternity pictures and more, visit our Smugmug site at MyFamily Photos"
You may visit Evan's "old page" Evan Riley Journal" for older entries and history but from now on, anything new with Evan will only be posted here((with his brothers)).
Evan will be 5 months Sunday, Novemeber 2, 2008
Evan Riley
Halloween 2008
Evan Nov. '08
Evan November 2008
BABY TALK!
Journal
Wednesday, January 7, 2009 4:40 PM Cali time Sorry no updates. I hope to fill you in on ALL of the excitement - perhaps when we get home.
Evan is not well. I have always thought of myself as a weak person regardless of the hardships I've been delt. I have changed my mind. I can truthfully say that I'm certain I am in fact, a very strong person.
Warren is doing GREAT though and I am so proud of him. We are looking forward to Friday and Saturday - Award and Banquet night.
Maybe I'll update more later. Until then, I'll throw up a few pics.
K.
Read Journal History
Links: http://www.fodsupport.org/caden.htm Fatty Acid Oxidation Support Group-Caden's story
http://www.umdf.org/ United Mitochondrial Disease Foundation
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