We were all in Illinois last week to say a final goodbye and to bury our granddad George. I think that by the time the call came in, we were already running low on tears. On Thursday morning, February 19, 2015, the geneticist called us herself while she was on a break from jury duty. Once you've worked with a number of doctors, you know that receiving a call from them directly is ordinarily not good news.
Torsten's skin biopsy came back positive for Pallister Killian Syndrome. Although this condition is extremely rare, we were expecting these results and were not terribly surprised. We were scheduled to meet with genetics today to work out the next steps and get all of our questions answered, but unfortunately, the Dallas ice storm has closed down most of the city and our appointment was cancelled. We'll be meeting with her asap, but as Ryan and I discussed last night, PKS is so rare, that it's not likely that she'll be able to tell us much that we don't already know.
To help everyone understand a little about this syndrome, I've listed a few questions and answers below. If you have any other questions, please send them over. If we don't know the answer, then they are probably great questions for us to take to our next appointment.
Q: What is Pallister Killian Syndrome (PKS)?
Q: Will we have Dane tested for PKS? If we have other children, are they at risk for having PKS?
A: No, we will not have Dane tested for PKS. Dane does not have any symptoms of PKS. He is exactly where he should be for size and development. We have no worries about Dane. Regarding other children, it is extremely unlikely that we would have another child with this condition. We recently read that our chances of having a second PKS child are less than 1/400,000,000. Since this condition is random, we have the same chance as anyone else of having a PKS child.
Torsten's skin biopsy came back positive for Pallister Killian Syndrome. Although this condition is extremely rare, we were expecting these results and were not terribly surprised. We were scheduled to meet with genetics today to work out the next steps and get all of our questions answered, but unfortunately, the Dallas ice storm has closed down most of the city and our appointment was cancelled. We'll be meeting with her asap, but as Ryan and I discussed last night, PKS is so rare, that it's not likely that she'll be able to tell us much that we don't already know.
To help everyone understand a little about this syndrome, I've listed a few questions and answers below. If you have any other questions, please send them over. If we don't know the answer, then they are probably great questions for us to take to our next appointment.
Q: What is Pallister Killian Syndrome (PKS)?
A: Also known as Tetrasomy 12p mosaicism, PKS is an extremely rare genetic disorder. Pallister-Killian Syndrome occurs due to the presence of the anomalous extra isochromosome 12p, the short arm of the twelfth chromosome 12p. The name Tetrasomy 12p means four copies of the short arm of chromosome 12 and the name Isochromosome 12p tells you that the additional chromosome (12p) is made up of two mirror copies of itself. Mosaic tells you that cells with the extra chromosome exist side by side with cells with a different number of arrangement of chromosomes. We're still researching and trying to learn all of this ourselves. Hopefully we'll be able to share more detailed information soon.
Q: What causes PKS?
A: No idea. According to the geneticist, this condition is completely random. There is nothing we have done to cause it and there is nothing anyone can do to prevent it.
A: No, we will not have Dane tested for PKS. Dane does not have any symptoms of PKS. He is exactly where he should be for size and development. We have no worries about Dane. Regarding other children, it is extremely unlikely that we would have another child with this condition. We recently read that our chances of having a second PKS child are less than 1/400,000,000. Since this condition is random, we have the same chance as anyone else of having a PKS child.
Q: How many people have PKS?
A: The total number is unclear, since undiagnosed cases exist. It is thought that there are less than 200 diagnosed cases in the world. However, one US hospital estimates that there could be significantly more than this number in the US alone.
Q: What are the features of PKS?
A: It is very unlikely that all of the following features would be present. Some features can include: hypotonia in babies (floppiness), developmental delay, learning difficulties, delay or absence of speech, distinctive facial appearance (high round forehead, broad nasal bridge, widely spaced eyes, large mouth with thin upper lip), sparse hair growth around forehead, thin or sparse eyebrows, streaks or patches of darker or lighter skin, high arched or cleft palate, short arms and legs (not proportionate to body), diaphragmatic hernia (hole in muscular wall separating the heart and lungs from contents of abdomen), seizures, permanent hearing loss, heart defects, extra nipples, feeding difficulties and reflux, large big toes and extra fingers, epicanthal folds (skin folds across the inner corner of the eye) and a large tongue that develops after babyhood.
Q: Are there things that Torsten will definitely not be able to do?
A: We are not ruling out anything. We are just now getting back into speech, physical and occupational therapy. We have every reason to believe that Torsten will walk independently (and very soon), will speak and will have as much of a normal life as possible. As soon as we meet with his doctors, we'll begin looking at schools and programs that fit his needs.
As we have been with every other issue that we've dealt with before, we are grateful that Torsten is ours. We will continue to work with him constantly and make sure that he remains the most happy, easy going and kind child we've ever met. It's an honor to be his mama, and Ryan and I will continue to make sure that we get the best care available for him. Thank you to all of our friends and family for your continued support through this recent diagnosis.
Love,
Ryan, Tasha and the boys
For more information on PKS, see the following sites:
http://www.pkskids.net/
http://www.rarechromo.org/information/Chromosome%2012/Pallister-Killian%20syndrome%20FTNP.pdf
Torsten on his balancing bike - Feb. 2015
For more information on PKS, see the following sites:
http://www.pkskids.net/
http://www.rarechromo.org/information/Chromosome%2012/Pallister-Killian%20syndrome%20FTNP.pdf
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