My Son Has Ptls

My son is two years old, and he is in the process of being diagnosed with Potocki-Lupski sysndrome.  He has experienced the low muscle tone and difficulty with eating/swallowing since birth. 

Thanks to the help of a geneticist at a local children's hospital and the help of our primary care physician, we finally seem to be getting some answers to things we have been questioning for the past 12-18 months. 

He just turned two this summer and he is one of the happiest little boys you will ever find...always armed with a big ol' smile.  We noticed almost from birth that he did not like to stand (not even for a few seconds) like our other child.  He also had problems right away with choking and gagging when drinking from his bottle due to a weaker swallowing reflex.  We added baby cereal to the milk to thicken it and slow it down and allow him to more easily swallow the milk.  He was also treated for acid reflux a few months, but now seems to be over that issue. 

 

At two years and one month, he is walking and quite often running when he gets excted about getting somewhere in particular.  He is a little wobbly when he runs, so I constantly hold my breath and pray he doesn't crash to the floor.  He eats pretty good now and his list of preferred foods continues to expand, however he is very adverse to anything resembling a yogurt/butter/pudding-like texture.....this has never changed since he's been on solid food.  He get physical, occupational, and speech therapy a combined total of 5x per week, and I think it helps somewhat.  He also wears orthotics in his shoes to help with form and posture.....I really think this has helped him alot. 

 

He is a little behind on his speech, but I am optimistic about his development.  Admittedly though, I am just learning about this syndrome through research articles, and want to hear from other families and parents about their experiences.   He is a beautiful little boy with a sweet, playful personality. 

verhasseltd verhasseltd
36-40
10 Responses Jul 9, 2008

my son was diagnoised at 15 yrs old with potocki lupski syndrome, born floppy benign hyptonia, which is low muscle tone, postural scoliosis in back at four months old, learning difficulties, delayed speech, falling over, not bearing weight on legs, breath holding, low immune system. sicking up his food .back resolved at four years old, wore orthapedic shoes, always suffered with daily headaches, migraine medicine worked upto thirteen but then stopped working, brain scans normal, still gets headaches now which we still dont no why, back started to curve over again at thirteen. oxford doctors recommended wearing a back brace for two years all day and sleep with it on at night, better now, doctors pleased with it, he still cant read and write very well but can do numbers well, christian now goes to newbury college doing life skills and makes his own way by bus, christian enjoys life, very socialable, good sense of humour. we waited fifteen years for diagnosis then genetics came up with a new test which showed potocki lupski syndrome 17 p11 2 duplication,now Christian is 19 years old.

My son is 3 and a half and just today was diagnosed with the potocki-luosu syndrome after 3 years of testing. I have neve heard of the syndrome and i am very scared for what my sons future will be. If anyone can give me some information of any support programs in Brisbane Australia i would be very greatfull. All the comments i have read seem to have similar situations as what my son has.<br />
Please if someone could give me some information to help me understand this syndrome i would very greatful.

My son is 3 and a half and just today was diagnosed with the potocki-luosu syndrome after 3 years of testing. I have neve heard of the syndrome and i am very scared for what my sons future will be. If anyone can give me some information of any support programs in Brisbane Australia i would be very greatfull. All the comments i have read seem to have similar situations as what my son has.<br />
Please if someone could give me some information to help me understand this syndrome i would very greatful.

http://potocki-lupski-syndrome.ning.com/<br />
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Please join my site. my daughter has PTLS and I would love to have every one with the syndrome have has site to talk on and give advice , raise money and awarness. Mahalo Dani

My grandson was last year diagnosed with PLS at the age of 5 1/2. For years my daughter had been fighting for a firm diagnoses. For 3 years we thought he had Autism but so many expected symptoms didn't fit.<br />
He was born with Talipes and a hole in his heart and was very low muscle tone and hard to feed. He has had several surgeries to correct his foot and seemed to regress after each one and so for the first 2 years was in plaster. (My daughter was only 19 and beacame very upset with some of the questions asked by total strangers about this.) He had OT, ST, PT and learnt a little signing while his language was developing.<br />
When he was 4 mths old he had a "breath holding" incident, I had just done a first aid course and had to revive him in the carpark of the hardware store. This happened several times over the next couple of years and doctors couldn't come up with a reason except tantrums???? and later Autism.<br />
Finally my daughter found a switched on Pediatrician who had heard about PLS who sent his bloods away. 11 months later we had an answer. And it all fit! It all made sense.<br />
He is now in grade 1 at a regular school and this year was deemed not to need an aid with him. His teacher says he is at least keeping up with the rest of the class and is actually ahead in some areas! Yay!!!!!!<br />
He is a happy, gentle, loving little boy. He is obsessed with trains and trucks and fixates on movie and tv characters. His language skills are about 2 years behind his peers but he has friends at school and is invited on play dates and to birthday parties.<br />
We don't know what the future holds for him, but there is always hope and at least now we know what this thing is called.

To all of the moms out there who have sons with PTLS: I also have ptls and I'm 20 years old. So, if you have any questions, just ask me and I can answer them as truthfully as possible.

Hello I'm Jennifer and u have a kid whit PTLS his name is Derek and he is 5 year old. He got a lot of energy he likes sport he likes school. I'm worry if he will be independent wen he be a grown man

My son also has Ptls, he was diagnosed when he was 8 months old. now he is 30 months old. He is doing PT, OT, ST. My husband and I went to Texas and met Dr. Potocki who discover the Syndrome.

My four and a half year old son also has potocki lupski syndrome. He was diagnosed a year ago.<br />
It took three and a half years of going to soo many different doctors etc until we finally got a diagnosis.<br />
Coming from a rural town and seems this is such a rare thing, It would be nice to be able to speak to parents in the same situation as I am......

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I had the chills. This story was written as if I wrote it myself about my son who also just turned two in May. He was diagnosed with PLS about five weeks ago. Our son also has Chiari 1, and had surgery last July.<br />
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We are very optimistic about our son as well. He doesn't seem to have a cognitive delay (but will be tested) but he does have a speech delay. I'm not sure how we can connect; I'd love to chat.