Jump to content


Biomarker for Diffuse Scleroderma skin has been discovered!


Photo

Juvenile Scleroderma?


  • Please log in to reply
14 replies to this topic

#1 ku'uipo's mom

ku'uipo's mom

    Newbie

  • Members
  • Pip
  • 2 posts

Posted 15 June 2011 - 05:55 PM

My 7 year old daughter has had some very disturbing symptoms starting several years ago. She has always had very itchy skin, started not being able to swallow, even saliva, which led us to several ER visits, doctor visits and eventually hospital stays, tube feeding when the endoscopy tube couldn't even go down. We had a dermatologist, a gastroenterologist, and a rheumatologist all sitting in her hospital room at the same time, trying to determine her diagnosis. Nothing!

She has been able to swallow for the past two years now, but her skin issues have progressed. She has very red hands with very white knuckles when barely bent, also her knuckles are hard and calloused on the inside and outside. Fingernails are strange too. Her legs have like a distinct line down the front between her knees and ankles, the outer side of each leg is very rough and scaly looking. Both her legs have whitish dots all over them. The doctor did blood tests which show ANA positive and very low platelet count. We are desperate for answers. Anyone finding these symptoms familiar please respond. Thank you.

#2 janey

janey

    Platinum Member

  • ISN Support Specialists
  • PipPipPipPipPipPipPipPipPipPip
  • 2,118 posts
  • Location:New Mexico

Posted 15 June 2011 - 08:46 PM

Dear Mom,
I'm so sorry to read what your daughter and you are having to go through. Having health problems and not having any answers is so very frustrating. It appears that you have seen the right type of physicians that could be able to provide answers. Sorry that hasn't been the case. The swallowing problems and the hands sound familiar, but the rest I haven't experienced personally. We do have a section on Juvenile Scleroderma. You might want to look through some of the articles and see if you can find any answers.

Please continue to seek for answers. Don't let the doctors brush you off. Keep good notes on symptoms, changes in symptoms and any information that might help with a diagnosis. There are many diseases, including scleroderma, that are hard to diagnosis - so keep searching.

Please stay in touch and let us know how you and your daughter are doing. I hope you find out what's going on very soon.
Janey Willis
ISN Support Specialist
(Retired) ISN Assistant Webmaster
(Retired) ISN News Director
(Retired) ISN Technical Writer for Training Manuals
International Scleroderma Network (ISN)

#3 Amanda Thorpe

Amanda Thorpe

    Platinum Plus Member

  • ISN Senior Support Specialist
  • PipPipPipPipPipPipPipPipPipPipPip
  • 2,927 posts
  • Location:U.K.

Posted 16 June 2011 - 08:26 AM

Hello K's Mom

Welcome to the forums although I realise you'd rather not be here. I assume that you're wondering if scleroderma is the cause of your daughter's symptoms hence coming onto this forum so you may wish to considergeting a referral to a scleroderma expert.

Obviously I have no idea whether scleroderms is the culprit but hope that you find out either way soon.

Take care.
Amanda Thorpe
ISN Sclero Forums Senior Support Specialist
ISN Video Presentations Manager
ISN Blogger

(Retired) ISN Sclero Forums Assistant Manager

(Retired) ISN Email Support Specialist
International Scleroderma Network (ISN)

#4 Joelf

Joelf

    Star Ruby Member

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPipPip
  • 4,610 posts
  • Location:West Sussex

Posted 16 June 2011 - 11:32 AM

Hi Ku'uipo's Mom,

Welcome to these friendly and helpful forums!

I'm so sorry to hear about the health problems your daughter is having to contend with and it must be terribly worrying for you as well.

Scleroderma is a notoriously difficult disease to diagnose at the best of times so I can understand your anxiety and frustration at not being able to receive a clear picture of your daughter's illness, despite the fact that she's being dealt with by three different consultants. One important thing I have learned about Scleroderma is that you do have to be very proactive with your daughter's doctors in order to obtain a diagnosis and receive the best treatment.

We do have other members with children affected by this complex disease and I'm sure they will be able to offer you some first hand advice. Do please keep posting and let us know how your daughter is faring. :emoticons-group-hug:

Jo Frowde
ISN Assistant Webmaster

SD World Webmaster
ISN Sclero Forums Manager
ISN News Manager

ISN Hotline Support Specialist
ISN Chat Host
International Scleroderma Network (ISN)


#5 Shelley Ensz

Shelley Ensz

    Root Administrator

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPip
  • 3,275 posts
  • Location:Minnesota

Posted 16 June 2011 - 04:40 PM

Hi Ku'uipo's Mom,

Welcome to Sclero Forums. I'm sorry your daughter is sick and send my best wishes to both of you.

Perhaps we could try to help you find a specialist to see. What area (country, state?) are you in?
Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

The most important thing in the world to know about scleroderma is sclero.org.

#6 Sweet

Sweet

    Platinum Member

  • ISN Support Specialists
  • PipPipPipPipPipPipPipPipPipPipPip
  • 2,892 posts

Posted 17 June 2011 - 08:35 AM

Hi Ku'uipo's Mom,

I want to join in with giving you a big hug and welcoming you to the sclero forums!
Warm and gentle hugs,

Pamela
ISN Support Specialist
International Scleroderma Network (ISN)

#7 Shelley Ensz

Shelley Ensz

    Root Administrator

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPip
  • 3,275 posts
  • Location:Minnesota

Posted 17 June 2011 - 11:59 AM

Hi Ku'uipo's Mom,

The medical term for low platelets is "thrombocytopenia".

Please keep in mind that I have no medical training at all, however I have inquired with our medical advisory board about this. As I understand it, one of the many diagnostic possibilities for your daughter is that there is an extremely rare form of localized scleroderma called Pansclerotic Morphea. It is associated with thrombocytopenia (low platelets). It has been successfully treated at least one time, and that case study is listed on that web page. It could be other things as well. This is just an example of a prime possibility from your brief description. Given the apparent likelihood that your daughter has at least some form of a scleroderma-type illness, it would be very important for your daughter to see a top scleroderma expert for proper diagnosis and treatment. We would be happy to work with you on finding the best one for your daughter's condition.

You may also share this email thread with your daughter's medical team and ask them to contact me to work with them and our medical advisory board on finding the best scleroderma expert for you, as well as visiting the section on our main site for Pansclerotic Morphea.

I'm sending extra warm hugs for you and your daughter.
:emoticons-group-hug:
Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

The most important thing in the world to know about scleroderma is sclero.org.

#8 ku'uipo's mom

ku'uipo's mom

    Newbie

  • Topic Starter
  • Members
  • Pip
  • 2 posts

Posted 17 June 2011 - 08:35 PM

Shelley, We are in Washington state, USA.

#9 Sweet

Sweet

    Platinum Member

  • ISN Support Specialists
  • PipPipPipPipPipPipPipPipPipPipPip
  • 2,892 posts

Posted 18 June 2011 - 10:04 AM

I'm in WA too!
Warm and gentle hugs,

Pamela
ISN Support Specialist
International Scleroderma Network (ISN)

#10 Shelley Ensz

Shelley Ensz

    Root Administrator

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPip
  • 3,275 posts
  • Location:Minnesota

Posted 19 June 2011 - 11:41 AM

Hi Ku'uipo's Mom,

I have sent you a recommendation for a juvenile scleroderma expert in Washington by private message. If you do manage to see her, please let us know how things turn out. Meanwhile, here are some more warm hugs for you and your precious daughter.
:emoticons-group-hug:
Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

The most important thing in the world to know about scleroderma is sclero.org.

#11 scottsgurl730

scottsgurl730

    Newbie

  • Members
  • Pip
  • 2 posts

Posted 11 October 2012 - 02:35 PM

Hello -

My 12 yr old son has Juvenile Scleroderma specifically Pansclerotic Morphea - I was hoping to connect with other parents with children with Scleroderma and to find someone else with a child with Pansclerotic Morphea for support.

Thank you for reading.

#12 Shelley Ensz

Shelley Ensz

    Root Administrator

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPip
  • 3,275 posts
  • Location:Minnesota

Posted 11 October 2012 - 02:58 PM

Hello Scottsgurl,

Welcome to Sclero Forums! I'm sorry your son has juvenile scleroderma. However, I'm very glad you've found us!

We have a section on Pansclerotic Morphea on our main site, for those who don't yet know what it is. It is an extremely rare and severe type of morphea, so it is of great importance to be under the care of a juvenile scleroderma expert and to stay on top of all the research and breakthroughs for its treatment.

Is this a recent diagnosis for your son?

:emoticons-group-hug:
Warm Hugs,

Shelley Ensz
Founder and President
International Scleroderma Network (ISN)
Hotline and Donations: 1-800-564-7099

The most important thing in the world to know about scleroderma is sclero.org.

#13 scottsgurl730

scottsgurl730

    Newbie

  • Members
  • Pip
  • 2 posts

Posted 11 October 2012 - 04:14 PM

No, he is 12 now and was diagnosed when he was 6 years old. We are on top of most of all the meds and treatments, but open to learn if there is more. He is being seen by a pediatric rheumatologist in our area, that is who finally diagnosed him. Thank you for the kind welcome.

Lisa

#14 Joelf

Joelf

    Star Ruby Member

  • ISN Root Admin
  • PipPipPipPipPipPipPipPipPipPipPipPipPip
  • 4,610 posts
  • Location:West Sussex

Posted 12 October 2012 - 07:44 AM

Hi Lisa,

Welcome to these forums!

I'm very sorry to hear that your son has been suffering with Pansclerotic Morphea and although it is a very rare disease, we do have other members whose children have Juvenile Scleroderma, so I'm hoping that they will be able to offer you support and help.

Do please keep posting and let us know how your son is doing.

:emoticons-group-hug:

Kind regards,

Jo Frowde
ISN Assistant Webmaster

SD World Webmaster
ISN Sclero Forums Manager
ISN News Manager

ISN Hotline Support Specialist
ISN Chat Host
International Scleroderma Network (ISN)


#15 Margaret

Margaret

    Platinum Member

  • Members
  • PipPipPipPipPipPipPipPipPipPip
  • 1,001 posts
  • Location:Pennsylvania

Posted 12 October 2012 - 06:42 PM

Hi Ku'uipo's Mom & Lisa,

Welcome to a wonderful family of friends, support, and the most up to date medical knowledge on scleroderma and autoimmune issues. :emoticons-clap:

My son started with esophageal dysmotility, 20 wt loss, loss of voice, and costochondritis at age 18.....6 years ago. Blood work showed + ANA and + Anti-RNA Polymerase 1/111. I was thrown into the world of scleroderma -- something I had never heard of. :emoticon-dont-know: . His diagnosis is UCTD because he didn't have skin issues or Raynaud's at the time. He was put on Plaquenil 6 months after diagnosis and he has slowly progressed into the Raynaud's (although not severe), Hypothyroidism, and SICCA (dry eyes and dry mouth). Now, we're working on autoimmune induced Addison's diagnosis. He has never shown any signs of skin changes consistent with scleroderma, all internal.

I look at my job, as Mom, to stay one step ahead of the unknown!!! When I can't figure out what's going on, I come running to this group with my questions!!! :wacko:

Take care, Everyone.
Margaret