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Frustrated and confused mom in need of advice


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#1 Nurse4life

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Posted 24 July 2016 - 03:46 AM

Hello everyone.

 

Thanks in advance for your advice. My daughter has just turned 14 in July 2015; she started developing Raynaud's. Which at the time we didn't know what it was, because it started in her feet first. Then in October she started having a severe pain in her hip that they could not explain. After all kinds of blood work she came back with a positive ANA and a positive SCL70 and it was greater than 8. So we started seeing a rheumatologist, had the ECHO and PFT which were negative.

 

Since then she started having Raynaud's in her hands and feet and they hurt and her hands get tight as well. She hurts everyday all over, she used to be very active in sports, well that has stopped. She has a hard time breathing and I am worried. Her rheumatologist will not formally diagnose her with scleroderma and they continue to tell me she just has chronic pain.

 

I'm a nurse and I watch her daily hurt and tell me she doesn't feel good. She can't run anymore because she can't breathe and if she goes outside and it's hot she can't catch her breath. Then other times as well she just has a hard time breathing. I'm at a loss of what to do. My beautiful, vibrant, energetic, outgoing child has now become home bound and the doctors don't listen. Any help? Please?



#2 judyt

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Posted 24 July 2016 - 12:52 PM

Hi Mom,

 

So sorry to read your post about your beautiful daughter, and would like to welcome you to this site which has been a great support to me and many others over the years.

 

I believe that I had my first Scleroderma Symptoms when I was a similar age to your daughter, which was late 1950's, when there was no awareness at all of this disease.   Luckily or maybe unluckily for me I had no skin involvement, but it would have been better if I had not had to wait until 2003 for a diagnosis.   I can empathise with her frustration about her ability to play sport and run, and with your distress as a Mom.   I have children and grandies too.

 

The first thing I want to say to you is "have you seen a registered Scleroderma Expert"?   At this stage it is vital that you do because as time goes by there are more and more areas of research which are offering help.   I even have knowledge of a young woman who has been 'cured' by a stem cell transplant in the past few years.

 

As you can see, I live on the upside down side of the world and we have no Experts here, but the young lady I mentioned was able to raise the funds to travel to Australia for her life saving treatment, proof that if you are determined there is always hope.

 

Best wishes

Judyt



#3 Margaret

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Posted 24 July 2016 - 01:05 PM

Hi Mom,

 

I do understand your frustration and lack of ability to help your daughter. My own son was diagnosed at age 18, his senior year in high school. Gareth had positive blood work, major fatigue, and esophageal dysmotility, which were the visible signs. He also had costochondritis, which is the diaphragm hardening and inflamed. Perhaps, they could check that out as a possible cause of shortness of breath/pain.

 

He developed asthma, although they say it's *exercised induced*. The whole disease process sent him into major depression, too. The doctors told me that the same autoimmune issues attacking the body can affect the brain. Please, keep tabs on that. He was put on Plaquenil six months after initial diagnosis and within 2-3 months was feeling pretty good. His esophagus had loosened up and he could eat fairly well. Due to his diagnosis, he sees a rheumatologist and gastric doc every 6 months, and a cardiologist and eye doctor once a year. I do think you need another opinion for your daughter from a specialist. My son had all the positive blood work and internal issues but ended up with the diagnosis of UCTD and not sine scleroderma. It's still a major disease.

Keep posting your concerns. This site has been a life saver for me as they have always answered my concerns.

Take care, Everyone.

Margaret



#4 Nurse4life

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Posted 24 July 2016 - 05:48 PM

We have not seen what I guess you would call an expert.. We are going to a local children's hospital and she is seeing a rheumatologist there. That is why I guess I am frustrated I feel like if they diagnose her then they can help treat her before anything worsens but the rheumatologist seems to believe we should wait. I don't live in a large area where they offer experts. I don't even know where to begin?



#5 judyt

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Posted 24 July 2016 - 08:02 PM

Hi Again,

 

To find an Expert on this site look at the yellow banner at the top of this page, click on Medical Pages.   Then click on headings which look appropriate until you find a list of Experts by States then try to find the nearest one to you.

 

I don't live in your sort of community and for us it would just be a case of finding somebody suitable then getting a referral from your GP.   We don't necessarily need to ASK for a referral but rather TELL the GP you want to see an Expert.   Here we would have to pay for the privilege but sometimes it is necessary to make a sacrifice to get the answers we need.

 

Fingers crossed that you can get the help you need for your daughter.

 

Best wishes

Judyt



#6 Margaret

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Posted 25 July 2016 - 12:09 AM

Morning, Gareth was first diagnosed with sine scleroderma by his gastric doctor.  He's the one who ordered all the blood work after he found the esophagus had hardened and stopped moving food.  On to a children's rheumatologist who didn't want to do anything.

 

I finally asked the doctor if he could try Plaquenil, only because of all the information received from this group. Plaquenil jump starts the immune system, which is contradictory to what you would expect to work, but it did work for Gareth.

 

Gareth has never had skin issues, yet!

 

After reading the initial information on the web, I thought for sure he'd be dead in 3-5 years.  It will be 10 years this November and although he's had his share of ups and downs from the UCTD, he's doing well.

 

Take care, everyone.

Margaret



#7 Joelf

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Posted 25 July 2016 - 07:55 AM

Hi Nurse4life,

 

Welcome to these forums!

 

I'm sorry to hear that your daughter is having so many worrying health problems and I can understand how anxious you must be feeling.

 

As Judy has advised, we do recommend that our members, if possible, consult a listed scleroderma expert, as this complex disease does require specialised knowledge and expertise. I've included a link to our Scleroderma Experts page, although it may be necessary to go out of state to find the nearest one to you. As scleroderma is a very difficult disease to diagnose, I suspect that your rheumatologist is waiting for further clinical signs to manifest themselves, which is why an expert on the disease is so valuable.

 

I've also included a link to our page on Raynaud's, which I hope you'll find helpful and informative.

 

Kind regards,


Jo Frowde
ISN Assistant Webmaster

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ISN Sclero Forums Manager
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International Scleroderma Network (ISN)


#8 Nurse4life

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Posted 25 July 2016 - 04:30 PM

Thank you all for your advice. I hope I can find one of these experts to see her.

#9 Shelley Ensz

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Posted 29 July 2016 - 07:55 AM

Hi Nurse4Life,

 

Did you look through our list of scleroderma experts for your daughter? In particular, there are two scleroderma centers in Pennsylvania that treat all ages and all type of scleroderma, so that might be a good place to start.

 

Be sure to consider all aspects before pressing for a diagnosis.  A diagnosis of systemic scleroderma makes a person uninsurable for life, for things that you wouldn't think of normally for a child, such as life insurance (and, in some countries, health insurance.)  What matters the absolute most is that symptoms are treated as they arise. Also see our Diagnosis of Scleroderma resources, and note that the symptom requirements for diagnosis, such as tight skin and pulmonary fibrosis. Often, the disease can be strongly suspected but not yet proven for diagnostic purposes.  But, if I were you, I'd consult an expert.

 

Even if it's too early for firm diagnosis, it's not too early to get a baseline and be regularly monitored.

 

:hug-group:


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.