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Community Disabilities

elykpeace

elykpeace

exVASted
Edit: @momofthegoons I spelled disabilities wrong so if you can edit that would be great. Long morning :(




Laying heavy on my heart today and I just need to vent .. don't know where else to put this thread and if I get some response great if not at least I can educate some of you and maybe start a conversation about disabilitys you or your family members may have...


today(Sept 18th) is
Pitt Hopkins Syndrome Awareness day

My son Nathan is 5 years old. He has never been able to tell me he loves me(lacks the skills of communication) .. he can't walk and needs assistance with everyday living ... He gets various therapies everyday includining physical therapy, occupational therapy, speech therapy, behavioral therapy and many others that my wife and I have tried to help relax him ..(music, horse back riding etc)


My son has Pitt Hopkins Syndrome.

Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by developmental delay, possible breathing problems of episodic hyperventilation and/or breath-holding while awake (55%-60%), recurrent seizures/epilepsy (40%-50%), gastrointestinal issues, lack of speech, and distinctive facial features. As we learn more about Pitt Hopkins, the developmental spectrum of the disorder is widening, and can also include difficulties with anxiety and ADHD, and sensory disorders.

PTHS has traditionally been associated with severe cognitive impairment, however true intelligence is difficult to measure given our children’s motor and speech difficulties. Thanks to augmentative communication and more progressive therapies, many families report that their children can achieve much more than initially thought. It has become clearer, as with autism and other disorders, that there is a wider range of cognitive abilities in Pitt Hopkins than reported in much of the scientific literature.

Pitt Hopkins syndrome is considered an Autism Spectrum Disorder, and some individuals with Pitt Hopkins syndrome have been diagnosed with Autism, with ‘atypical’ autistic characteristics, and/or Sensory Integration Dysfunction. Because of its genetic relationship to autism and other disorders, many researchers believe that curing Pitt Hopkins syndrome will lead to cures for similar disorders.


My wife and I know of research facilities that are studying this disorder in Cali but it's just too expensive to move there. It's still a fairly rare disorder and after 5 years not much has changed in his condition.



Like I said I just need to vent .. this syndrome has put a huge tension on our family and like I said if we have a place to vent maybe it will do some good.
 
A very important thing that I can take away from this, is the extreme importance of parents sticking together as closely as possible.
The hard core frustration, doubts and fears can drive a wedge between those who do not communicate well with one another.
I hope that you and your wife get the opportunity to go together to some form of family counseling.
Venting in each others presence can help you both grow closer, understand each other more, appreciate each others strengths and "be there" to supplement one another's weaknesses.
I hope I am not giving you old stuff that you have seen, but my heart says to lay it out here anyway:
Registration at the P.H. Foundation is at https://pitthopkins.org/family-registration/
The Rare Disease Foundation has some forms of financial aid for P.H. parents at https://rarediseases.org/for-patien...d8b-1d05-44b9-ba8b-7cd6cd88bde9&ux3=&uxconf=Y
Even more information is there for you at https://www.thinkgenetic.com/diseases/pitt-hopkins-syndrome-8238/living-with/60586
If you are alreaqdy involved with these organizations, please forgive my giving you "old news".....
However, now that you have opened the door to the topic, others may appear that do need the links I provided.
Thank you @elykpeace for sharing with us.
Your load is a heavy one.
I do hope that you know we are all here for you.
 
@elykpeace before I get into the meat of this... I want you to know that tagging someone in an edit doesn't alert them. It has to be done in the og post. :smile:

Now....... Thank you for opening up and sharing this with us. My heart broke a little reading your post. I've worked with children with autism and have also been on the executive board of the local Autism Society of America chapter. I am familiar with the day to day struggles you are facing. But one thing you wrote made me smile:

elykpeace said:
many families report that their children can achieve much more than initially thought.
Click to expand...
Yes! I have seen instances of children so profoundly affected by autism that they were incontinent, non verbal and unable to support their body without help. But here's the thing... unless they are also deaf? They are listening. And if they aren't blind? They are watching. And most would be amazed at how much these children (and adults) actually learn by observing. But the therapies are necessary to help bring that knowledge to the surface so that it can be used.

Having a child with significant health or cognitive issues can be devastating to a family; especially if they have no support. I hope you are involved with your local chapter of the autism society. If it's anything like the one I was involved with, they will have resources and support groups that you can tap into. But be careful of some of those therapies. If they sound too good to be true, they probably are. There are a lot of 'snake oil salesmen' out there.

Hopefully more will be learned about this disorder and they'll expand the research and trials to an area closer to you. Or more affordable. I've got to believe that California isn't the only state with doctors looking into this.

And feel free to either post or pm me any time. Everyone needs support at one time or another in their lives. It's important to know someone will listen. :icon12:
 
Thanks @Vitolo my wife and I are members! Great resource . We also are part of a Pitt Hopkins parents Facebook page and have been able to go and spend time with other families who have children with the same disablities. Nathan's a deletion and not a mutation meaning he has only one 18 chromosome and those with mutations have the set just one has mutated a little.

@momofthegoons thanks for fixing that and autisum was another diagnosis he received this last year. Officially Nathan has Pitt Hopkins Syndrome, cerebral palsy, micro cephally and now autisum .. we are learning more about approprite play with little sis and he's now on Prozac to help him with his severe anxiety and mood swings. It's helping somewhat but I can't ask him how he feels on the meds so only time will tell.



@Vitolo my wife and I spend next to no time apart and she is my rock as I'm sure I'm hers. Yesterday my daughter was trying to play with Nathan and he screamed at her to the point she was upset. She's almost two but it still tears me up thinking about it. My sister and I were BEST FRIENDS I can't imagine growing up with a sibling and not being able to communicate with them and just sit on the floor and play together. Lucky we just had our third child so she has her special brother and her baby brother.
 
elykpeace said:
Officially Nathan has Pitt Hopkins Syndrome, cerebral palsy, micro cephally and now autisum .. we are learning more about approprite play with little sis and he's now on Prozac to help him with his severe anxiety and mood swings. It's helping somewhat but I can't ask him how he feels on the meds so only time will tell.
Click to expand...
Wow.. poor baby has a lot on his plate. He's so lucky to have a supportive family. I know this is a really sensitive subject with many... but have you considered using CBD or some form of medical cannabis?

elykpeace said:
Yesterday my daughter was trying to play with Nathan and he screamed at her to the point she was upset. She's almost two but it still tears me up thinking about it. My sister and I were BEST FRIENDS I can't imagine growing up with a sibling and not being able to communicate with them and just sit on the floor and play together. Lucky we just had our third child so she has her special brother and her baby brother.
Click to expand...

There is one boy that I worked with that I became fast friends with (he's 23 now). He has an older brother and younger sister. There were years where the siblings struggled with him and his disability. But what I found was that the family bond actually strengthened because of it. I don't know of many other family's that have as close and supportive of a relationship. All of them rally around their brother (son) and have helped him through many challenges. As your daughter grows a bit older, there will be rocky times when she's embarrassed or put out. But my bet is that she will grow to be one of his biggest allies. After all; she has wonderful parents to role model after. :smile:
 
@momofthegoons yes we have purchased cbd from Colorado a couple times and never noticed. Difference in behavior / attitude ... Prozac... Yeah not a fan and I wish we didn't have to try but the autisum specialist in the area wanted him to try after we tried the cannabis route. We scheduled an appt so he could be prescribed cbd as well as a low thc dose but after appts and medicine every month it's just too expensive and his Medicaid wouldn't cover it. (Pill pushers)



Edit: I KNOW my daughter loves him but he gets this blood curtling scream when he's frustrated and it really scared her. She's always sharing her snacks and trying to play. Breaks my heart. We are in the process of a scholarship that helps pay for new technology that can better his life. His ABA therapist working with him to use an iPad wwith pictures to maybe combat the language barriers.


And not to get off topic but I just realized the rapist. Weird word wtf were they thinking making it .
 
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momofthegoons said:
And there is nothing wrong with Prozac administered judiciously when needed. It's far better than having your son be full of anxiety or profoundly upset. :twocents:
Click to expand...


This is the truth. No worse feeling then having your son so inconsolable and not being able to do a damn thing about it. Its so overwhelming that it makes both my wife and I feel like terrible parents. If we can't comfort our child what good are we? I know I know it's not our fault. But doesn't make us feel any better about the situation.
 
elykpeace said:
Its so overwhelming that it makes both my wife and I feel like terrible parents.
Click to expand...
I can imagine. I saw it firsthand when I worked.. and with the family that I stayed friends with.

When a child that has no way to communicate gets frustrated, scared, is in pain or has sensory overload the only way they have to communicate it is by acting out. It's often labeled as 'behavior' when it's anything but. It can present in some pretty awful ways. It can even lead to seizure disorder. And be incredibly draining on a family.

Just don't give up. The most successful cases I've seen are with what I called 'militant' parents. They were tireless in working with their kids. And never thought 'oh he can't do that.' Now I realize that your little man can only do so much and this has to be within reason. But he does have eyes and ears. And there's always the hope that he'll be able to communicate with you some day. It sounds like the therapist you have is going to facilitate that with the iPad idea. I hope it's the start of something really positive for him.
 
This is an old thread, but as an early childhood professional, I wanted to chime in a just a tiny bit with some encouragement. It may be hard for you to see their struggles in interacting, but if you can try to let them sort it out as much as possible it will be for the better in the long run. There are many ways to communicate beyond words, and they will learn to communicate and even understand each other if allowed to work it out.
Nathan sounds like he's trying hard to communicate difficult emotions.
Hope y'all are still hanging in there and doing well.

Also, I would encourage you to view your role as understanding your child's communications and not to console every pain or frustration. People are allowed to be upset. Even little people. The expectation to console then through tough emotions every time is unrealistic. Crying and even screaming can teach self soothing. Obviously I'm not advocating ignoring your child's cries, but it is possible he understands language more than he can speak it. So I would encourage you to continue speaking to him and giving him space when your comforting does not work.
 
Diggy Smalls said:
This is an old thread, but as an early childhood professional, I wanted to chime in a just a tiny bit with some encouragement. It may be hard for you to see their struggles in interacting, but if you can try to let them sort it out as much as possible it will be for the better in the long run. There are many ways to communicate beyond words, and they will learn to communicate and even understand each other if allowed to work it out.
Nathan sounds like he's trying hard to communicate difficult emotions.
Hope y'all are still hanging in there and doing well.

Also, I would encourage you to view your role as understanding your child's communications and not to console every pain or frustration. People are allowed to be upset. Even little people. The expectation to console then through tough emotions every time is unrealistic. Crying and even screaming can teach self soothing. Obviously I'm not advocating ignoring your child's cries, but it is possible he understands language more than he can speak it. So I would encourage you to continue speaking to him and giving him space when your comforting does not work.
Click to expand...
Various therapys have been beneficial to both him and the rest of the family.

Everyday gets a little better. He will be my baby forever

Wise words @Diggy Smalls
Still not sure how much he can understand verbally but he is mellowing out more and more everyday .. some of his pain and vocalizations come from stomach pains associated with him holding :shit: .


This has been his biggest issue for a few years now.. miralax was poison and hurt more then the constipation I think but now the stuff he takes isn't as effective.


It's an ongoing process. He's worth it tho and as long as were alive he will be heard even If we can't understand him all the time



Love you bud:enamorado:
 
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