Pitt Hopkins Syndrome

Jennifer - posted on 10/15/2010 ( 7 moms have responded )

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My son Benjamin is 13 and for the past 12 years we have been trying to get a diagnosis for his developmental delays...Every test he's had has always come back negative and it has been very disappointing....He walks with assist, doesn't talk, and is totally dependant. His neurologist just emailed me and said that she would like to have him tested for Pitt Hopkins Syndrome the next time we see her...After researching about it, I find that Benjamin has a lot of the symptoms presented though it says that the child is usually in the smaller percentage and Ben has always been on the tall side with a large head...Just wondering if anyone else has heard of this and if there is more info out there on it?
Thanks,
Jennifer

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Angie - posted on 01/17/2013

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Hi my daughter is 13 still with no diagnosis, we too have been looking for one since she was 12, everything normal. I have been reading about pitt hopkins and she has alot of symptoms i am going to ask her geneticist to test her for it when i see her next.

Malika - posted on 10/27/2010

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Hi Jennifer,

My son is 5 yrs old and has global developmental delay. The doctors have'nt been able to give us any sort of diagnosis on him. He has had countless tests done but all of them have been negative. At one point i thought that he had Pitt Hopkins but he is also bigger than is stated for the syndrome. He used to have a slightly smaller head in proportion to the rest of the body but is growing better now. The next step for us is meeting with a neuro- geneticist. Pitt hopkins normally presents with some quite striking features. They have a website called http://pitthopkins.org/Check it out. Maybe it'll answer your questions.

Iridescent - posted on 10/19/2010

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I agree, insurance companies should really stop looking for ways to deny supplies for children that need them simply because the root cause of the problem hasn't been found. It's not from lack of effort on anyone's part; it's lack of science being available.

We've had a lot of tests run. The first genetic test we did was the Chromosome Mitomet Microarray, which was positive for Alagille Syndrome (missing NOTCH2 gene exons 1-5 and surrounding material). It scared us to death! We had every associated test done to make sure she was ok with those results, and she has none of the physical characteristics despite it being a dominant gene defect. It did not show her OTC Deficiency. They also ran point mutations for the OTC Deficiency, which were negative. Now we have the MitoDx test going, and expect results by December at the latest. It should show any mitochondrial DNA defects. The company also saved an extra vial of blood for nuclear DNA testing next year, when their new DNA test is expected to be released, in case the MitoDx doesn't show anything. It's far exceeded any other tests available in the world! Gives me hope we will know what is wrong.

Jennifer - posted on 10/19/2010

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Amy,
We are in the works on getting a wheelchair. We meet with his Dr. next month to start the process. We are trying to decide if he needs a power wheelchair or a regular one. Shay has had the diagnosis of Hypertonia since he was 9 months. We have had no issues until now. My husband started a new job. Even though we had never been without insurance, the new company did not want to cover his diagnosis. So we went to a new Dr. who did give him the diagnosis of CP Hypotonic. I think there should be better information out there on children with no diagnosis. Even though the child needs the same help as children with CP or any other disability, insurance companies and other organizations don't want to help if there was never a underlining reason why your child is delayed. It has been a real challenge for my husband and I. We are starting to get some help now. We started testing a year and a half ago, but after all the test came back negative they wanted to start genetic testing. They ran sever test at the Cleveland clinic, but the cost was very expensive and we had to hold off until we could get some help. We have now started again with a program called BCMH, which is helping in the cost of testing. We just want some answers. Have you had to run test to get the diagnosis for your daughter? Thank you for your help. We are hoping to get a wheelchair soon…

Iridescent - posted on 10/18/2010

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Jennifer, my 3 year old daughter is also getting to heavy to carry around as often as she needs, as was a friend's 3 year old (HPE and CP). We both just asked our ped for a prescription for a wheelchair. Since my daughter's need is situational, she hasn't received hers yet but will be by spring. Her diagnosis to support the need is hypotonia. All you need is a prescription, then bring it to your medical supply company. It may take a while but it will get done.

Jennifer - posted on 10/18/2010

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Hello Jennifer,
I have not heard of Pitt Hopkins until now. My son will be 3 next month and has developmental delays in all areas. He has been in PT since 9 months when we noticed he was not meeting his milestones. We have been doing testing since then with no diagnosis. Every test that has been run has come back negative. We have been dealing with this for a short time compared to you. I know it is hard not to have a diagnosis even though life continues. We were just introduced to early intervention and he has now started pre-school at our local Starlight (school for delayed children). He has really come a long way and we are so proud of him. My son Shay is a happy kid. He was a pleasant baby/kid and has been the light of my life. A couple of weeks ago we were able to get a diagnosis of CP hypertonic, we where running into issues with our insurance not wanting to cover his PT,OT and speech, because he had no diagnosis. Did you have issues with this? It's nice to hear that my husband and I are not the only family going thru these trying times. It has been hard to find other people to talk to about the issues we are running into. We have a lot of support from our families, but no one has gone thru what we are and don’t know what kind of advice to give. If you don’t mind me asking…my son is starting to get to heavy to carry around, just to move through the house, can I ask how you dealt with this? I hope you get some answers on his Diagnosis…Your son and daughter both look very Happy! Good luck…

Iridescent - posted on 10/17/2010

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I have not heard of this until now. I do know how hard it is to go year after year without a diagnosis, but am fortunate that we also have doctors willing to pursue any reasonable avenue. That said, we did the chromosome mitomet microarray 2 years ago (didn't show what we needed, not unusual though). We've checked for point deletions with suspected diseases, negative each time as of yet. But now we have 2 new things to try which open up a HUGE set of options for us, because at least one of them will show where the problem is, and from there we can find out what's wrong. Right now we're waiting on the MitoDx test (if there is a defect in the mitochondrial DNA, this will find it!) and we requested the lab save the extra vial of blood for next year when their nuclear DNA scan is no longer in testing stages, so that can be run if this shows nothing (again, if there is a defect in the nuclear DNA, it WILL be found!). One of these WILL be positive. Maybe it's something you want to think about having run if this doesn't pan out, because the years of waiting...are unpleasant to say the least. They are new tests, and exceptionally accurate. Our doctors wouldn't do the mtDNA because it just misses so much, but she was happy we found the MitoDx one!

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