Truck’n Through Ohio

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Daddy and Josephine in the pool

Daddy and Josephine in Mike and Amy's (our cousin's) pool

We recently made a trip to Ohio to see our family. What an incredible experience for Josephine. Although a week early, she celebrated  her first birthday with her Grandparents, Aunts, Uncles, and cousins–can I just tell you how touching it was to have everyone share it with her (both my family and Krysta’s)! It was a great opportunity for her to see how wonderful and caring our families are! As you can see in the picture, me and Josephine got a chance to cool off from the HOT day.

By the way, it was soooo awesome that she received the many, many birthday presents–especially some “cause and effect” toys that will help her learn! In the last few days, her face lights up any time we bring one out for her.

Our Birthday Princess!

1st Birthday Party at Aunt Patti's - chillin' with Mama.

1st Birthday Party at Aunt Patti's - chillin' with Mama.

Cake with Daddy - YUM!

Cake with Daddy - YUM!

Milestone ACHIEVED!

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Arms Up–HURRAY!

Today was a wonderful day!  While at a friend’s house for dinner, Josephine mimicked our friend, Trish.  Trish threw her own arms up in the air and shouted HURRAY!  Josephine followed by moving her arms up in the air too!  And it wasn’t just a fluke.  She moved those arms every time.

Made me want to cry, but I was too happy and proud to do anything expect beam from ear to ear!

Nutrition and Weight Gain

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On a recent trip to see the gastroenterologist, Dr. Francis Sunaryo, the doctor suggested seeing a nutritionist to boost caloric intake to improve Josephine’s weight gain.  She was 13 lbs., 13 oz.  The blood work came back clear and healthy, so no worries about Celiac Disease, thyroid disorders or pancreatic concerns.  Which leads us to the nutritionist…

“Mitch” Bentler was pleased with the amount of food Josephine is eating.  But steps need to be taken to increase her weight.  Two weeks after the visit with the gastroenterologist, Josephine weighed 13 lbs., 12 oz., a 1 ounce loss.  Some suggestions were to concentrate the formula and add olive oil (1 teaspoon) to every meal.  Another possible concern is that because I make most of her food, Josephine gets very little fat in her diet.  I always thought making baby food was the best way to go.  And that would be true if Josephine had no disorder.  So, it seems Gerber will get new customers soon!

“Mitch” asked to see Josephine again in 6 weeks and I look forward to seeing a nice weight gain!

MRI and Ambulatory EEG Results

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After a great amount of waiting patiently and many phone calls to the neurologist, we have some new information regarding Josephine’s brain.

MRI RESULTS:  As we suspected, Josephine has complete agenesis of the corpus callosum.  What does this mean?  No idea.  It depends who you ask and what research you do on what site.  What we do know is the connective tissue/fibers between the left and right brain is nonexistent.  Normally developed within the first 6-12 weeks of conception, the corpus callosum allows the right and left brain to communicate through as many as 200 million fibers.  There is another pathway this communication can occur, but there are only 50,000 fibers available in that connection.  Check out www.nodcc.org for more detailed information on disorders of the corpus callosum.  Again, what does this mean for Josephine?  She may need more therapy to help build new ways for the left and right brain to communicate.  The good news is that we have started Early Intervention already, so only improvements can be made.

AMBULATORY EEG RESULTS:  These results are less severe than the MRI, but still concerning.  Josephine has a tendency toward seizures, but did not experience a full blown seizure while hooked up to the EEG.  The neurologist, Dr. Aviva Bojko, is not prescribing any medication at this time because the EEG just showed spikes in the activity in the right and left frontal portions of the brain.  If we see any signs of seizures such as blank staring and twitching of any kind, we are asked to call the Dr. Bojko immediately.  Are these seizures connected to the agenesis?  Your answers are as good as ours.  I read that seizures are increased with complete agenesis and when having conversations with other medical professionals (a P.A. and a nutritionist), if there is no corpus callosum, seizure activity should cease.  More conflicting information…no surprise here.

Josephine and the Ambulatory EEG

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On the medical side of Tetrasomy 8p (Genetic Disorder)

josephine EEG 3josephine EEG 2josephine EEG

Josephine took a trip to the neurologist on July 26.  The neurologist wanted to monitor her brain activity for a 48 hour period.  The process of attaching the 26 electrodes was less than wonderful, both for Josephine and Mom and Dad.

But after the procedure, Josephine became our little cosmonaut (see pictures above)!

No results yet from that test.  Next up is the brain MRI, which is scheduled for August 6.  This is another big test to give us some big answers – does Josephine have a corpus callosum (arched bridge of nervous tissue that connects the two cerebral hemispheres, allowing communication between the right and left sides of the brain) and does she have hydrocephalus  (water on the brain)?

Josephine has been experiencing, what I think to be petit mal seizures – vacant stares for a few seconds and head twitching in repetition of 2-4 movements.

This MRI will give us a better idea of her prognosis.  Every test leads to a new piece of the puzzle.  We may not always get the answers we want to hear, but it’s better to deal with what’s coming head on.  Denial is not our friend at this point.

We are not alone.

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I found a wonderful web site, http://www.chromodisorder.org/CDO, Chromosome Disorder Outreach.  Through this site, I found a wonderful family in Iowa that has a 3-year old with the almost identical diagnosis as Josephine, so they have been our lighthouse in the storm!  Their daughter is the 13th documented case at this point.  Her mom and I have been emailing and we are so blessed to have found another family!  Their daughter is doing very well and certainly much better than the doctors told them she would do.

So, as our geneticist and counselor have said, Josephine is her own research project, just as this 3-year old girl is her own.  When we find more cases, more doors will open to the mystery of Tetrasomy 8p Mosaicism.

What is Tetrasomy 8p Mosaicism?

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Genes and chromosomes
Our bodies are made up of billions of cells. Most of the cells contain a complete set of tens of thousands of genes which act like a set of instructions, controlling our growth and development and how our bodies work.
Genes are carried on microscopically small, thread-like structures called chromosomes.  There are usually 46 chromosomes, 23 inherited from our mother and 23 inherited from our father, so we have two sets of 23 chromosomes in ‘pairs’. Apart from two sex chromosomes (two Xs for a girl and an X and a Y for a boy) the chromosomes are numbered 1 to 22, generally from largest to smallest. People with an extra chromosome 8 usually have some cells with 46 chromosomes and others with 47 chromosomes (46 plus the extra chromosome). When cells with a different chromosome make-up exist alongside each other, the condition is known as mosaic. People with a small extra chromosome 8 are almost always mosaic. The degree of mosaicism can be different in every body tissue. So it can be different in the blood, the skin, the lungs, heart, brain and so on.  Chromosome 8 is a medium-sized chromosome and contains 700-1,100 genes out of the total of 20,000 to 25,000 genes.

IN OTHER WORDS:  Josephine is made up of all sorts of puzzle pieces, just as we all are.  The only difference is that Josephine has two extra puzzle pieces that have nowhere to go, so they are just hanging out, maybe having a cup o’ joe waiting to figure out what’s gonna happen next…