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My 22 year old daughter has recently been in hospital for diagnostic testing regarding her uncontolled epilepsy. The doctor has suggested Pitt Hopkins. He has also said that there is no definite blood test. However I have read on this forum that there is. Does anyone know where such a blood test can be done in or near London.
Mary
Hi Mary,
My name is Sue and my 17 year old has Pitt- Hopkins Syndrome.We only discovered this in October 2007 weeks before his 16th birthday. This was because there is a blood test. Christopher's blood was sent to Germany from Leiden in Holland near where we live. As far as I know blood from the UK is sent to Germany and France. My eldest son graduated in Manchester last week and while we were there I was able to meet up with a geneticist we know at St Mary's and she told me that they are sending blood to Germany at the moment. Have you got a geneticist? They should be able to send blood for you. The blood test has been available for about 2 years , I think. I am in London at the moment as we are British but living in Holland for my husband's job. I'll send you a message, via making you a friend, with my phone number. I'm in Ilford in North East London. Some of us are on a Google PTHS support group which I manage with Theresa in the States. If you put Pitt-Hopkins and Pitt Hopkins (without the hyphen) into the NORD search engine you should be able to find lots of other messages. Looking forward to hearing from you.
Sue
The following link provides contact information for laboratories in Europe that perform molecular testing for Pitt-Hopkins syndrome:
http://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search.php?lng=EN&type_lis t=clinicalLabs_search_simple_shd&data_id=2624&Disease(s)%20concerned=Pitt-H opkins-syndrome&search=ClinicalLabs_Search_Simple&ChdId=2624&ClinicalLabs_C linicalLabs_Search_diseaseGroup=pitt-hopkins&ClinicalLabs_ClinicalLabs_Sear ch_diseaseType=Pat&ClinicalLabs_ClinicalLabs_Search_country=NN&ClinicalLabs _ClinicalLabs_Search_GeographicType=null&ClinicalLabs_ClinicalLabs_Search_C linicalLabsList_Sort=QoS
The following link provides contact info for a lab in the US:
http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/318881? db=genetests
Hi Mary,
I was trying to send you some websites but I must have taken your email address down incorrectly so they bounced. Amazingly the two websites I was trying to send you are the ones that the NORD genetic counsellor has sent you above! Theresa , who I co manage the group with only found the Greenwood one a few weeks ago when she was doing a search. Christopher's blood was sent to Erlangen in Germany. I am writing to you through the forum because until you accept me as a friend I cannot send you a private message. I joined you to the PTHS support group as we talked about but as the other messages are bouncing I don't expect that will work either. It was lovely talking to you this evening!
Best wishes
Sue
vorrei tanto sapere se i bambini con la sindrome di pitt hopkins riescono a parlare
"I want so much to know whether children with the syndrome pitt Hopkins can talk"
Hi,
I put your message through a translator and got the above. My son cannot talk but I know a 22 year old who can talk in 4 word sentences. I think some children will have some speech but many are non verbal.
Sue
To Nord Genetic Counsellor,
Thank you so much for this information. Do you contact the laboratories directly. Do you know how much it costs.
Regards,
Mary
Dear Sue,
I thought I had put you down as a friend. Thank you for the information. I have finished school now, so hopefully I can sort all of this out.
Most laboratories do not provide information directly to patients so it is probably best for the doctor to make contact and inquire about cost.
The professor who we are under says that it can take for up to a year, as the blood samples have to go in batches. Is there no way aaround this?
Mary
I don't understand the need to wait for a year. If a clinical geneticist is not involved I would be happy to refer you. This is the most appropriate medical professional to coordinate testing. Are you in London currently?
Mary,
We just got the Pitt-Hopkins diagnosis for my 3 year old daughter Nisha in June. My geneticist in Ireland had sent the bloods to Germany and it did take a long time but only a few months. We weren't expecting a diagnosis because nobody could find out what was wrong since she was 7 months old. She actually is doing great: she walks but falls often, she uses Irish signs, and she understands most of what you say. Unfortunately, she doesn't talk but at least we know that's typical for PHS.
I just joined this group and am looking forward to talking with others about this. I haven't posted a profile yet but I will when I get another minute. I live in Ireland but I'm visiting my parents in Winchester, Massachusetts this summer. I know there are others here and I hope to contact them soon.
Hope you find a geneticist in London. If not, I'll send you on my geneticist's info in Ireland if you would like. She was brilliant.
Take care,
Shivanthy
Yes,
I live just outside London. The professor told us that he ws going to refer us to a geneticist at Great Ormond Street hospital. However that was on the 3rd May and we have not heard anything since.
Mary
The following link contains contact information for the Clinical Genetics Service at Great Ormond Street:
http://www.ich.ucl.ac.uk/gosh/clinicalservices/Clinical_genetics/ContactUs
I suggest that you contact the professor and request the referral.
Hi Shivanthy,
We live in North Carolina, USA. Our son, Victor, also has Pitt Hopkins syndrome. He will be 4 in August. He sounds very similar to your daughter! He also walks, and is falling much less often now. He understands much of what you say to him, and also has a few signs and words. He is very happy, and is such a joy in our lives. We have created a Pitt Hopkins support group on google groups: http://groups.google.com/group/pitt-hopkins . Hope you hear from you soon.
Take care,
Theresa
I have done this, but he is dragging his feet. Is there anyway I can do this privately?
Mary
You could certainly try contacting the labs directly and/or contacting Great Ormond Street directly.
Hi Theresa,
I'm so glad you sent me a reply. As soon as we got home from finding out about Nisha, we saw this discussion group. When we saw your son's photo we knew that it was the right diagnosis. Your son looks like my daughter's twin! I won't be able to upload a photo until I get back home to Ireland on the 8th of August but when I do you'll see. She will be 4 in February and she is also very happy and loves to go to everybody. I will join as many support groups as I can but I'm so bad about getting on the computer to reply. This group seems great so maybe I'll start out small!
Chat soon,
Shivanthy
Hi Shivanthy,
It was good to hear from you so quickly! I have just a minute, but I wanted to share with you our blog that we have created for Victor: http://victorpauca.blogspot.com/
I can't wait to see your daughter's picture!
Take care,
Theresa
Hi Shivanty,
My daughter Emma was diagnosed with PHS about two years ago. She is 19 now. We has more or less given up hope of getting a diagnosis as over the years, she was suspected as Retts syndrome and angelmans. Our genetisist contacted us about doing a test for PHS but we didnt really expect a postive result. We only know of one other case in Ireland. He is a 11 year old boy. Emma cannot talk or walk and is completely dependant. We've had some challenging behaviour over the last few years(i.e. crying and self harm) I would be interested to know if anyone else has had this beviour with their child.
Regards
Emmas mum
Hi Emma's mum,
So sorry I hadn't replied since you posted. I'm SOOO bad at keeping up with my email and this site but I'm trying to be better :)
When I spoke to the neurologist in Dublin, she told me that there were three confirmed cases in Ireland: the boy you referred to, your daughter, and my Nisha. Obviously, she didn't give me your details so I'm thrilled you're on this site.
Nisha is only three so I don't know how she will change when she's older. At the moment, she can say three words. She has been using Lamh signs for the past year but it is still difficult to understand her and she gets frustrated and upset. She can walk but she's not steady. There's a wonderful preschool for children with special needs right here in Roscommon that she goes to three days a week and gets her services there.
Where in Ireland do you live, if you don't mind me asking? I thought it was hard for me to wait until Nisha was three to find a diagnosis but it must have been unbelievely frustrating not to find one until Emma was 17.
In answer to your post, the only challenging behaviors we've come across with Nisha probably have more to do with her being three than anything else (or so I like to tell myself). I can't imagine what it would be like when she's a teenager.
Would love to hear from you again.
Best wishes,
Shivanthy
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