Pitt Hopkins Syndrome

Our 16 year old son has just been diagnosed with Pitt Hopkins Syndrome and we are trying to find other families with a child with this diagnosis. A blood test has only recently been developed so we are imagining that when this is offered to more children there will be a few new families looking for contact soon.

Christopher has severe learning disabilities and hypoplasia of the Corpus Callosum. He is hypotonic , non verbal and in nappies. All his motor skills are very delayed. He sat about 2 1/2, crawled at 4 and walked at 9. He is just learning to stand up from the floor at 16.He's a very happy child and both male Rett's and Angelman's have been considered in the past by doctors in the UK and the Netherlands (where we now live) but were ruled out.

The first year of his life no one would believe us there was something wrong and he was described (in Germany where we lived at the time)as a heavy ,lazy baby and me an over anxious mother who shouldn't compare children! When he was 1 we were told he may never walk or talk, we would just have to wait and see. Since then we have been hoping for a diagnosis so we could make contact with other families but realised that in many cases with severe learning difficulties this is never found. To find a diagnosis just days before his 16th birthday was a big shock. It's terribly frustrating now that we have not been able to find any other parents to share with. I'm posting now in the hope some other parents will be searching too having just got the diagnosis and might find this e mail in the archives!

We have just been tested and have to wait till they get enough people to test (as the tests are expensive) to find out if we are carriers or whether Christopher has a de Nouvo mutation.The fault is on chromosome 18. We have 2 other boys who have normal development.

Sue

Report post

47 replies. Join the discussion

My daughter was diagnosed with Pitt Hopkins Syndrome on the 14th of November. After reading how it took years to find your diagnosis, I suddenly feel grateful. I too felt like nobody believed anything was wrong, but I guess as a mother "we" just know. I have two boys who are older than Olivia and they are both of normal development as well. My husband and I are awaiting the results of the CGH to see if the cause was us or De Novo. How are you feeling with the diagnosis? Olivia is 16 months old today and i thought waiting 10 months was hard...I can't even imagine 15 years. I see you listed some of Christophers milestones...Was he a happy baby? You mentioned he has severe learning disabilities, does he attend a public school but take special education classes, or is he enrolled in a special school all together? I hope you don't feel like I am badgering you with questions...I am just curious to see what we are in for. Thanks for listening and putting out this post...it feels nice to reach out to somebody that actually understands. Does Christopher suffer from seizures?

Brandy

Report post

Hi Brandy ,

I started another message to you and it suddenly disappeared! I found first your request to make contact and only after I sent a reply did I find your e mail on the site that answered a lot of my questions!!! I'm learning how this site works slowly!!!

Christopher was a very happy baby and is a very happy child. When we were in the UK from when he was 6 to 11 he attended a special school but when we moved to Holland we had to fight for 18 months to get him into special school. They wanted him to attend a daycare centre. He has been there for 3 years now. We have no idea whether Christopher is a typical case of PHS or more severe. We don't know how long his deletion is? He developed seizures (that we know about!) when I was pregnant with Nathan my youngest who was 11 a month ago . He had 8 seizures over a period of 18 hours and then he was given Sabril (Vigabritin) and they stopped. A couple of years they added tegretol but he was weaned off them before we moved to Holland as by then these meds were below therapeutic level for his weight . They thought he had partial complex seizures then but they never investigated any further. At the time Brian was here in Holland and commuting to London to us every week end (for 5 1/2 years) it's a long story but basically we were being messed about by the local authority here who would not give us planning permission to make alterations here for Christopher.It was a very hard time as Andrew my eldest was 10, Christopher 6 and Nathan a baby of 10 months and I was basically a single mum from Monday to Friday and I just survived and had little time to chase the doctors for more explanations. I wonder now though what has been happening seizure wise that we could not see!

Andrew is 20 now and at university in the UK. He's in Manchester which is where my husabnd and I went to. I saw in your profile that you are a student too. What are you studying? How do you manage with 3 children? it must be a lot of work. I do not work. I trained to be a Maths teacher but taught younger children before Andrew was born. I had a few miscarriages before Andrew was born and had given up teaching to see if I could get something less stressful (on the advise of the fertilty doctors) and always imagined I would go back to teaching one day. I was about to go on a supply list once Andrew started at Kindergarten when I became pregnant with Christopher and I never went back. I have a bicornuate uterus and this has caused lots of problems with getting pregnant and staying pregnant! All of my babies have been breech and so i have had 3 elective Caesars.

Do you known if Olivia has hypoplasia of the corpus callosum that some children with PHS have. I don't think she's had a n MRI has she but they may have picked it up on a scan when you were pregnant.

How old are your boys? Are they going to be tested ? We are waiting for our test results and if we're clear then of course the boys won't need the tests. How long did you wait between the tests and the results? We didn't know that Christopher had been tested so the results came right out of the blue! Is there a specialist for PHS in your State or elsewhere in the States? We think our blood was sent to Germany but we really have very little information. I think I read on your profile that you are in Wi which i think is Wisconsin. Where about in Wi are you? We are both from London but are living just outside Leiden in Holland about 45 minutes drive from Amsterdam.

Well, I'll send this now as it's now nearly midnight!

best wishes

Sue

Report post

Hello again,

We are waiting for Olivias neuorology consult. The genetics counselor recommended an EEG and a MRI be done, but left the time frame in the hands of the neurologist. I am hoping to hear from them today actually. They didn't notice anything while I was pregnant and so no extra tests were done.

My boys, Jason is 6 and Austin is 4..they are healthy as far as we can tell. So, I see no need to test them. My husband and I are having our blood tested and I think that will be sufficient for us. Does Christopher have the palmer crease(s)? Olivia has them on both hands. I actually have one but my other hand has the "normal" two.

I go to school to be a registered nurse...it is pretty tough sometimes. I keep reminding myself it will pay off in the end:) Olivia maybe just gave me a field to specialize in! I am really trying to deal with all of the information and the "might happens."

Sorry to have to run out on you, but I have to get ready for class. I will be keeping my eyes open for more information and will definitely pass what i know along:)

Hugs,
Brandy

Report post

Hi Brandy,

I'm replying here as your message came in here but I did write to you earlier today on your message area. (I hope) so if it doesn't arrive let me know :)

Christopher has got just one palmer crease on each hand. This was first noted in Munich and my sister who was a midwife then was very surprised it hadn't been picked up at birth. She was upset that she hadn't checked him out because she did on babies she delivered. Of course , many people have one palmer crease, I've even heard of a neurologist with them , but we always felt maybe some doctors would have taken us more seriously later if they'd been noted at birth along with our concerns.If doctors had taken us seriously earlier we could have started therapies earlier!

The reason we are wondering if our boys will be tested is whether they could be carriers if something does show up on our blood tests. If we are clear it won't be necessary and if we are not I'm sure the genetic clinic will suggest it. Nathan's only 11 but Andrew's 20 and though he's not thinking of settling down with anyone at the moment it may only be a matter of a few years!I asked Andrew whether he was worried about this and he said he was so pleased that Brian had told him there was someone in their 30s with PHS. When he was 9 a little girl ,that Christopher had music therapy sessions with, died in her sleep. Her undiagnosed condition was nothing like Christopher's but at 9 Andrew didn't realise that and the poor boy was worried that his brother might die too. I felt awful that Andrew had been worrying about that all these years. Looking back I wasn't there as I was in the UK with a few week old Nathan. (I had all the Caesareans in London as in Munich I would not have been allowed to have an epidural and it was made very difficult to establish breastfeeding as they would not let you room in with the babies. I had a risk of premature birth and I wanted to be in the UK so I could understand all that was going on!) By the time I was back nothing was mentioned and so I had no idea what he had thought or was thinking.It really shows the need to talk to children and find out what they are thinking!

How long have you to go in your training? When do you get the choice to specialise?

I'll send this now as I have to get diiner ready. Nathan's got football training and will come in hungry!

Say hello to Jason, Austin and Olivia for me

Love Sue

Report post

I know your discussion thread is about Pitt Hopkins Syndrome, and I am amazed at what you have lived through with your son. My son, age 8 (nine in 8 days), has agenesis of the corpus callosum, which is an absence of this vital organ that connects the left and right brain hemispheres. It controls all midline movement, thought processing, and brain maturities as far as social cues go. I suggest you go to www.nodcc.org and look in the resources section for information about the underdevelopment, or hypoplasia, of the corpus callosum. It in of itself explains the delayed development from infancy. When I noticed this (actually before, since I did what was sensory integration with my daughter, but didn't know I was doing it at the time), I kept telling the doctors there was something else wrong with him. Turns out, he is the only one worldwide with his two diagnoses. But, that is not at issue, here.

OT's, specializing in sensory integration, can help all children with increasing their cognitive development. The frontal lobe, responsible for all executive function, is stimulated with movement, tactile stimulation, and physical input. Every child can benefit from these learning strategies. My site, www.omnibuswriting.com, includes my published article, "Tapping into the Senses" which was published in S.I. Focus magazine. Carol Kranowitz's book, The Out of Sync Child has a thorough explanation of what sensory integration is, and how to address it. Brain Gym movements, the book, "Smart Moves, Why Learning isn't all in your Head”, and other such books have come along since the "decade of the brain," in the U.S. In Paul Thompson's publications, he addresses the embryonic forming of the corpus callosum, its growth during childhood, and to its slow destruction after age forty into the senior years. The book, Mind, Brain, and Behavior, is a great one to read, if you only read some parts.

Good luck. There are simple, simple games to play with your children, that so increase their potential. I so want to write a book about it, I want to burst! Please read these other ones, though. Good luck and God Bless.

Report post

Hi Olivia's mom,
I have just finished reading your information about Olivia, and I thought I would take a second to write you back. I will also write Christopher's mom. We were told a few days ago that our son, Victor, probably also has Pitt Hopkins syndrome. We still have to meet with the doctor to discuss this diagnosis, but this was the information the counselor gave us over the phone, with the results of a Fish test showing a deletion in Chromosome 18q. Victor is also a very happy, very social 2 1/2 year old. We also have 2 daughters, 8 and 5, who are typically developing. Victor is such a ray of sunshine for us! He has been involved in therapies (physical, occupational and speech) since he was 12 months old (he also wears orthodics). He is now walking, but sometimes still falls if he starts going too fast or looses his balance. We are getting a wheelchair for him to maneuver long distances and hard surfaces such as concrete. He has one consistent word, which is "no," and occasionally says "uh-huh" when he likes something. He is still to develop his pincer grasp but claps his hands to sign for "more," and pats his side to sign for "want." He can independently drink with a straw, and will use a fork to feed himself if you hold it up for him to grasp it. He also loves to kick around a soccer ball. All of these skills have developed just since he was 2. He tries so hard all of the time, and is such an inspiration to us all. I will post a picture of him soon. This is such a wonderful service! I hope to hear from you soon.

Theresa

Report post

Hi, it is April 12th and I have only just discovered your message while searching for another! I do apologise as you must have thought me so rude. I am visiting a friend for the week end with my husband (my German penfriend since I was 11 years old!) and she is speaking to her sister so I was just checking how to set up a group with INSPIRE. I will check your website when I'm home. I'm very interested as I have just finished the HANDLE advanced course and am now a HANDLE intern so have read the Out of Sync child. I have been a member of various ACC support groups for many years and belong to the group back in the UK (Corpal) and have been to a few conferences in the States. I'm from London but we live in the Netherlands as my husband works for the European Patent Office in Den Haag. Maybe I've even met you in the past at one of these? We knew Christopher had hypoplasia of the Corpus Callosum for many years but never expected to get a real diagnosis (we've been told ACC is more of a description than a diagnosis) after all this time:) I hope you hadn't given up on getting a reply from me......sorry again it is so late. Sue

Report post

I have started a support group on google groups for people who are caring for loved ones with Pitt Hopkins Syndrome. Please visit us at:
htttp://groups.google.com/group/pitt-hopkins

Report post

HI all! I just found this the other day! I am so excited to find others going through similar issues. My son was diagnosed with Pitt-Hopkins a few months ago. His name is Nic and he's 13 now! He was delayed and still is mildly in gross and fine motor skills. Right now we are more struggling with his behaviour issues and his vast array of medical issues. I was wondering if anyone felt the same as myself when they recieved their diagnosis? I feel almost let down. Kind of like ok now what? There seems to be no real answers anywhere. Ok now that I have gotten that all out I can go read all these posts without feeling like I continually want to jump up and yell YAHOOO!

Report post

Hello,
My name is Jane and I have a 12 yr old boy with severe learning difficulties, he did have a clinical diagnosis of Angelmans although all the tests have been negative.
Recently we recieved a letter from our genetisists saying a change had been found in the gene TCF4 so requested bloods from us parents which showed no change so we had another letter to say that this is the gene responsible for my sons problems the TCF4 gene,am i being stupid but does this mean that Jake,my son is being diagnosed with PHS? Our next app is not until Sep and having just finding that they may have found a diagnosis after all these yrs is making the wait near impossible!
I would be grateful for any honest opinions and input,
my thanks to you in advance
Jane

Report post

Dear Jane,

You are only the second person from the UK to contact me and the first from the UK to make contact through the NORD Inspire site.I am not a geneticist but I think it's quite likely that your son has Pitt Hopkin's Syndrome if they are looking at the TCF4 gene.

You may have seen on a message from Victorsmom above where she has put a link to the Pitt Hopkins Syndrome Support Group that we have set up. We are only a few at the moment from Holland, Canada, The States and the UK but we expect that more families will contact us when the blood test for PHS is more widely heard of.

My husband has a better understanding of genetics as he trained as a biochemist and he has not heard of TCF4 being connected to anything other than Pitt Hopkins Syndrome. TCF4 is a protein as well as a gene It's a transcription factor (no. 4) which is important in embryonic neural development. (I hope I'm getting that right! ) I think if you join us on our little group you'll maybe see if your son seems to fit what we know so far. At the moment none of the children seem to really have this hyperventilation that seems to be associated with PHS. They have had striking resemblances as babies, toddlers though!

I don't know which genetic department you are under. I know St Mary's in Manchester are doing a lot of work and that GOSH have been talking to other geneticists. I can completely understand your frustration at not being told conclusively and I certainly wouldn't wait till September to find out. Can you ring the hospital to find out ? I know from talking to a geneticist at St Mary's that they are looking at cases where Rett's and Angelman's have been considered and then getting the children/adults tested. That's certainly what happened with Christopher at Leiden here in Holland. The fact that you have been told so little makes me wonder if they are not a bit swamped at the moment with cases being considered. You are the third new parent I've written to this week which is amazing as for months it was only Olivia's Mum and me!

I'll continue to look at what I can find out about TCF4 and see if it's associated with another syndrome.

Best wishes
Sue

Report post

Hi Jane,

When I wrote to you last night on your e mail after inviting you as a friend on Inspire I didn't realise that the above message hadn't reached you! I hope my second message which was the first you received made sense :)

Love Sue

Report post

Bonsoir Sue,
Je suis moi même maman d'un petit garçon de 22 mois atteint du syndrome de pitt hopkins. Je cherche des personnes qui vivent la même chose que moi et qui pourrait m'apporter des réponses sur l'avenir de notre fils. Il ne s'asseoit pas, ne se tourne pas, ne marche pas, ne parle pas...
Merci de me répondre. Oui même en France il y a des cas. J'espère que nous allons aboutir quelque part.
Bisous. Corinne, maman de Damon

Report post

I'm sorry but I'm French. I search of answers. Thank you

Report post

Bonsoir Corinne,

Votre fils est si mignon! J'ai aussi un fils avec le syndrome Pitt Hopkins (PTHS), Victor, qui est de 2 ans 11 mois. Nous avons commencé un groupe d'appui international pour les parents d'enfants ayant le syndrome Pitt Hopkins. En général, nous écrire en anglais, toutefois, nous avons aussi d'autres membres qui parlent le néerlandais, de sorte que nous utilisons http://translate.google.com/translate_t
être en mesure de comprendre les uns les autres. S’il vous plaît envisager de se joindre à notre groupe, même si vous ne parlez pas anglais. Je sais que mon ami, Sue, a écrit et vous vous a donné le lien vers le Pitt Hopkins Groupe d'appui. Nous espérons que vous vous joindrez à nous!
Cordialement,
Theresa

Bonsoir Corinne,

Your son is so cute! I also have a son with Pitt Hopkins syndrome (PTHS), Victor, who is 2 years 11 months old. We have started an international support group for parents of children with Pitt Hopkins syndrome. We usually write in English, however, we also have other members who speak Dutch, so we use http://translate.google.com/translate_t
to be able to understand each other. Please consider joining our group, even though you do not speak English. I know my friend, Sue, wrote you and gave you the link to the Pitt Hopkins Support Group. We hope you will join us!
Sincerely,
Theresa

Report post

Hello, thank you for your message. pardon for my English for I am French and I call upon a translator. I look for responses on the development of this disease. I created a blog for my son Damon in order done connaitre the disease. If you have the possibility of there to pass, I would be delighted. My site is: http: //petit-tresor72.skyrock. Com/ HAS very soon I hope. If you could let my blog pass in your friends, is itself really likable. Good-bye and good day. Corinne

Report post

Bonjour Corinne,
J'ai transmis votre blog détails de Thérèse et de les envoyer au reste du groupe. J'espère que mon email vous atteint .
Sue

Hi,
I have passed your blog details to Theresa and will send them to the rest of the group . I hope my email reached you
Sue

Report post

Hello, I very well received your email and I thank some you. I look for responses. How evolves the disease, which are the symptomes... ? There has-t' it had premature deaths? I am grieved but I am very worried. Reply me please. I want to know how are your children. I awaits of your new ones. to soon. Corinne

Report post

Salut Corinne,

Autant que je sache, nos enfants peuvent s'attendre à une durée de vie. Certains enfants développent des crises convulsives. Dans le cas de Christopher a développé saisies à 4, mais ne possède pas maintenant Certains de ces enfants n'ont pas saisies. Je ne sais pas pourquoi certains le font et d'autres ne le font pas.
Il existe différents symptômes qui sont écrites dans les documents à propos de Pitt sur Hopkins, mais pas tous nos enfants, que j'ai entendu parler, de les faire. Tous nos enfants (de notre groupe) semblent avoir des retards à moteur. Christopher, mon fils, marcher à l'âge de 9 ans, mais Theresa Victor est le fils de marche et 3 en Août.

Lorsque Christopher était l'âge de Damon il a obtenu un grand nombre d'infections pulmonaires, mais il va bien maintenant. Damon est très souvent malade? At-il eu des saisies? Est-il ok si je copie de votre courriel à notre groupe afin que les autres peuvent répondre à vos questions?

Meilleurs voeux
Sue

Hi Corinne,

As far as I know our children can expect a full life span. Some children develop seizures. In Christopher's case he developed seizures at 4 but does not have them now Some of the children do not have seizures. I do not know why some do and others do not.
There are different symptoms that are written about in papers about Pitt Hopkins but not all of our children, that I have heard of, have them. All of our children (on our group) seem to have motor delays. Christopher , my son, walked at age 9 years, but Victor Theresa's son is walking and is 3 in August.

When Christopher was Damon's age he got a lot of chest infections but he is fine now. Is Damon ill very often? Has he had any seizures? Is it ok if I copy your e mail to our group so that some of the others can answer your questions too?

Best wishes
Sue

Report post

Corrinne Salut,
Nous avons été ravis de voir que vous avez rejoint notre Pitt-Hopkins Groupe d'appui! J'ai examiné votre site Skyrock, et il est beau. J'aime toutes les images de Damon - il est si mignon! Je pense que Victor lui-même et se ressemblent. Victor souffre également de constipation. Il est allergique au lait, fromage, beurre, oeufs et - tous les produits laitiers. Nous lui donner du lait de soja a ajouté que la fibre, et je pense que cette aide. Il a parfois les maux d'estomac de la constipation. Je suis sur la planification de l'emmener voir un médecin au cours des prochains mois spécialisée en gastroentérologie pour voir s'il a Hirshsprung la maladie - ce qui peut être un symptôme d'enfants ayant le syndrome Pitt Hopkins. Au cours de ses deux premières années Victor était également un grand nombre des infections respiratoires. Maintenant, ces infections sont plus doux. Nous avons également songé à se lancer un fonds pour l'accès à Victor quand il est plus. Je tiens à vous parler des idées pour plus tard. Je vous écris par l'intermédiaire de votre e-mail et par le biais de notre groupe de soutien. Bienvenue!
Cordialement,
Theresa

Hi Corrinne,
We were thrilled to see you have joined our Pitt-Hopkins Support Group! I have looked at your skyrock website, and it is beautiful. I love all the pictures of Damon--he is so cute! I think he and Victor look alike. Victor also suffers from constipation. He is allergic to milk, cheese, butter, and eggs--all dairy products. We give him soy milk that has added fiber, and I think this helps. He has stomach aches sometimes from the constipation. I am planning on taking him to see a physician in the next few months that specializes in gastroenterology to see if he has Hirshsprung's disease--this can be a symptom of children with Pitt Hopkins syndrome. During his first two years Victor also had a lot of respiratory infections. Now these infections are more mild. We have also thought of starting a fund for Victor to access when he is older. I would like to talk to you about ideas for this later. I will write to you through your email and through our support group. Welcome!
Sincerely,
Theresa

Report post

This discussion is closed to replies. We close all discussions after 90 days.

If there's something you'd like to discuss, click below to start a new discussion.

Join our Gaucher Disease Support Community today!

Things you can do

Support Genetic Alliance

Help Genetic Alliance reach its goals and support people like yourself by making a donation today.

Donate to  Genetic Alliance

Join our PNET patient community today!

Join the Cushing's Disease Community on Inspire Today!

Discussion topics

Community leaders