Live, Laugh, Love!

c and mv2014

Life with our children and adults with Potocki-Lupski Syndrome is one filled a range of emotions, with the greatest being love! Potocki-Lupski Syndrome is not a disease that one would catch if they came close, nor will it be the of cause their death. PTLS is a disorder that is just a label the medical and education professionals use so they can follow guidelines put into place. This chromosome disorder is one that gives our children the “Happy Gene” that brings about a love for life, and show all those around them the way life should be lived.

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Submucous Cleft and Speech

PTLS Fact:

Some parents have asked what a submucous cleft palate is. and do all the children have this. Let me see if I can help explain. First, no. Not all the children with PTLS have this, however, it has been seen in some of the children. What is it? In the first 8 weeks, when the embryo is developing (1st 8 weeks of pregnancy), the palate (roof of the mouth) develops. Sometimes the left and right sides do not come together, leaving a small gap. The skin closes over the bones, so it is not seen, but it can be felt. One sign that is seen when you look in the back of the throat. There is a bit of tissue that hangs, called the Uvula. The length of it has been linked to PTLS (being too short). However, if it looks like a “W”, called a Bifid Uvula, it is a sign of a Submucous Cleft Palate. This can also cause a larger gap in the back of the nose/mouth area (just above and behind the Uvula), called a Velopharyngeal Insufficiency, so the Adenoids should not be removed or it can cause the gap to be larger. The cleft can be surgically repaired. So, next time your baby is opening their mouth, or crying, take a look in the back of the mouth. If you are concerned, ask your child’s doctor to check. I hope this helps. ~Julie Smith-Centeno

Swallow Function Study

Studies conducted years ago on PTLS kids showed that the duplication could cause hypersensitive nerves in the back of the throat, a problem with tongue movement (interfering with clear speech and brings about very noisy “smacking” while eating), clearing of the throat, and gagging. It is suggested that if the children are showing difficulties, they have a “Swallow Function Study” conducted to look at the structures and any possible delays in swallowing of food and liquids. This test is conducted by a Speech Pathologist in an x-ray department. If you have any questions about this, please consult the PTLS individual’s physician.

 swallow function pic

Making a Wonderful PTLS “Cake”

The Making Of Our “Cake” Called the PTLS Child

By: Julie Smith-Centeno

The Making of a “Typical” Cake

Ingredients:

2 eggs

2 tsp. baking powder

6 oz. flour

6 oz. sugar

2 tb. butter

4 tb. oil

Put all the ingredients together, pour into a 9×9 baking pan, put it in the oven at 350 for 30 min. Enjoy!

 

The Making of “The Wonderful PTLS Child Cake”

Ingredients: Mom and dad needs to bring equal amounts (half) of each ingredient. Each ingredient is called a “gene”. The list of ingredients is called chromosome 17. Can you see the duplicated ingredient “gene”? ( Please note that for your child the duplication could have come from mom or dad.)

  Mom                                          Dad                                            Total Ingredients Needed

1 egg                                        2 egg                                         3 egg genes (we only needed 2 eggs)

1 tsp baking powder           1 tsp baking powder             2 tsp. baking powder gene

3 oz. flour                              3 oz. flour                                6 oz. flour gene

3 oz. sugar                            3 oz. sugar                               6 oz. sugar gene

1 tb. butter                            1 tb. butter                                2 tb. butter gene

2 tb. oil                                 2 tb. oil                                      4 tb. oil  gene

Put all the ingredients (genes) together, pour them into a uterus, and bake for 9 months. Enjoy this amazing cake!


Duplication 17p11.2 is not a duplication of the whole chromosome (which would be duplicating each ingredient on the list, which is what happens with Down’s Syndrome). When we bake all these ingredients together, we may not have put in the right number of ingredients (genes), but it still makes one amazing cake that we are so very proud of and with every single bite we are in awe of it. Enjoy Your Cake!!!  ~Julie Smith-Centeno

Simplifying the duplication of the p11.2 on chromosome 17.

Simplifying the duplication of the p11.2 on chromosome 17.

No Worries!

This comes naturally to our children. On those days we are challenged by society’s judgement, step back and look at the beautiful face or your child looking at you without a care in the world.

don't worry