Big Day Developmentally Speaking…

My son, Oliver, is two years old but functions between a 9-12 month developmental age. Oliver is technically undiagnosed, but extensive testing has shown he has mitochondrial dysfunction. Oliver receives occupational, physical, speech and feeding therapy,  has a therapy coordinator and a music class that we do together. Oliver turned two in July. It is SO HARD when a special needs child has a birthday. Their actual age is suddenly in direct focus, it can’t be ignored. Shopping for birthday presents is so frustrating. He is unable to do the things a child his age can do. Oliver can’t stack blocks, doesn’t put toys into containers, and he has no speech. But he’s happy! And adorable. We don’t think about what he can’t do on a daily basis, we focus on the little triumphs. Its just hard sifting through the toy store inventory trying to find things that fit him!

Generally Oliver will have a lull in progress before making huge leaps in his developmental skill set. We’ve been experiencing one of those jumps for the last couple of weeks.  Yesterday, Friday, we started the day with a Music Together Class. In our class are parents with children Oliver’s age. The kids run around on their chubby legs grabbing egg shakers and movin’ to the music. On the first day of class Oliver was very reserved and would have NOTHING to do with an egg shaker. Today, six weeks later, for the first time he picked up an egg, shook it, squealed in delight and dropped it. Then when it was time for the music exploration portion of the class, he crawled right into the melee of kids and instruments shaking a tambourine here and whacking a drum there. I was so moved. When a typically developing child picks up an egg shaker its no big deal. When someone like Oliver picks up an egg shaker its a G.D. miracle. It feels like insanity to be so humbled by such a small action. Then after music class we headed to feeding therapy where he did beautifully! His therapist tried some new techniques with him and he responded with flying colors.

Our lives are bursting with blessings, sometimes they are as small as an egg shaker. I have two typically developing children as well, and I’m thankful for my little Oliver being just who he is. My other children are loud, strong in will and body, and uncontainable. My Oliver is small and gentle and at two years old still the happiest baby I have ever met.

 

Just what ARE mitochondria anyway???

My son, Oliver, is one year old and is under investigation to determine what mitochondrial disorder he has, if he does indeed have a mitochondrial disorder. A couple of months ago he had a muscle biopsy. The surgeon removed two grams of tissue from his right thigh for testing. When the results were in we were told two things. One, that his muscle fibers were not bundling properly. A muscle is made of two types of fibers, conveniently labeled type one and type two. If you were to look at a cross section of a muscle sample you should see the two fibers equally distributed, so at a 50% mix. Oliver’s fibers are bundling at 60%/40%. This is somewhat mild. The second thing we were told was that everything else was at normal levels, but they wanted to do one last test. Why? I asked (later, of course, through a series of phone messages between myself and the R.N.) should we do one more test if everything was mostly normal? I finally got a response back from the geneticists R.N. explaining that while the mitochondrial activity levels were normal, he had more mitochondria than they would expect to find.

Mitochondria, hmmm, I remember making a cell cookie for a middle school biology project once, and I recall that we used some type of candy, jelly beans I think, to represent the mitochondria, but that’s about all that I remember. This post is to rediscover mitochondria and why they’re so important.

What are mitochondria? Google provided me with this succinct description: mitochondrion – A spherical or ovoid organelle found in the cytoplasm of eukaryotic cells, contains genetic material separate from that of the host; it is responsible for the conversion of food to usable energy in the form of ATP.

Mitochondria are the body’s powerhouses, the batteries if you will. Interestingly, mitochondria have their own DNA separate from that of the individual they reside inside of. Mitochondria were once a parasitic bacteria that has degraded over time until now its an integral part of our bodies and is passed on from mother to child in the egg. Even more fascinating, mitochondrial DNA can trace the maternal geneology back fifty thousand years and has been used to prove theories, such as we are descended from Neanderthals, false.

Facts:

Mitochondria contain 2 types of genetic material:
• mitochondrial DNA, which can only be passed on from the mother
• nuclear DNA, which is passed on from both parents

Autosomal recessive inheritance
The nuclear DNA in mitochondria is inherited from both parents (half from
each parent). Mitochondrial disease can be passed on only if BOTH the mother and
father are “carriers”. This means that they carry the mutated gene, but not the
disease – so they don’t have any symptoms. This is called autosomal recessive
inheritance.
When both parents are carriers, there is:
• a 25% chance of having a child with the disease
• a 50% chance of having a child who is a carrier like the parents
(has the mutation, but not the disease)
• a 25% chance of having a child that is not a carrier and does not have
the disease

http://www.hamiltonhealthsciences.ca/documents/Patient%20Education/MitochondrialDiseaseUnderstanding-lw.pdf

While I read many articles, Mitochondrial DNA and Human History from the Human Genome website (http://genome.wellcome.ac.uk/doc_WTD020876.html) was the simplest to digest.

But back to my original questions, what are mitochondria and how can I better understand mitochondrial disorders? Mitochondria reproduce faster than other human cells because they do not have a system check to identify mutated DNA. Because they don’t check, they reproduce faster, twenty times faster than other cells. One mutated mitochondria reproduces twenty times in X amount of time, and is why some mitochondrial issues do not manifest until adolescents or adulthood. It takes that many years for the original few defective mitochondria to reproduce to the level that they can impact their host.

What does this mean for Oliver? I have no idea, but it is a fascinating subject. If they’d told me in middle school biology that mitochondria are actually the remnants of an ancient parasitic bacteria that we now use to power our bodies I may have gone into genetics. Why do they keep all the cool stuff a secret?

This Ain’t My Grandpa’s Zucchini Bread!

My clearest memory of my grandparents’ house is the smell. My grandfather was a bread baker in his retirement, and he made everything from sourdough bread to brownies from scratch. My grandmother had been a Home Ec teacher and between the two of them the house was always refreshingly clean and full of amazing smells. My grandmother, years ago, put together a family cookbook, and I’m eternally greatful. I can bring back some of my happiest memories by simply reading over the recipes. A couple of years ago I decided to make my grandfather’s zucchini bread from the family cookbook, and I was SHOCKED at the amount of sugar in it. His recipe called for THREE CUPS OF SUGAR. No wonder we loved it so much! I played with the recipe a bit and after a while perfected my version. Enjoy!

3 eggs

1/2 cup oil

1/4 cup applesauce

1/4 cup crushed pineapple

1 3/4 cup sugar

2 cup grated raw zucchini

2t cinnamon

1t baking soda

1.5 t baking powder

3 cups unsifted flour

1 cup nut pieces

1 t salt

Grate unpeeled zucchini and set aside. Beat eggs until foamy, gradually adding oil and sugar. Add zucchini, cinnamon, salt, baking soda, and baking powder. mix well with an electric mixer. Gradually blend in flour, then fold in the nuts. Grease a loaf or Bundt pan and fill 3/4 full of batter. Bake at 350 for one hour.

*This recipe is also delicious with a quarter cup of flax meal mixed in, and I love using roasted and salted pecans as my nut of choice! I always make a couple sans nuts for my son.