[Emmasmom]

Hello all~
My name is Amy, and I'm looking for some experienced opinions about my 4 year-old daughter Emma. Her history is lengthy, so I apologize for how long this may be, but I want you have the whole story.

She was dx'd with type 1 diabetes at 9 months, (which is very early and unusual for an autoimmune disease), and is insulin dependent.
She started having GI problems around her 1st b-day and testing showed strong auto-antibodies for Crohn's disease at that time. The doctors were stunned because of her age and unsure how to proceed, but luckily her symptoms slowly resolved and we have not had any serious problems from that... yet.

When she started walking around 15 months it became instantly clear that she had arthritis. It took almost two years to get an official JRA dx's and start meds. Of course by the time we saw the pedi "rheumy" I knew we were dealing with more than "just" JRA. She was running low grade fever daily, she had huge inflamed lymph nodes in her neck, she was becoming sun sensitive and getting rashes constantly. She was tired all the time and had terrible dark circles under her eyes. My pedi and I were already talking about Lupus, but the rheumy we saw refused to believe that she had anything more serious going on because "she looked good" (we hear this all the time, she's really cute.... this does not mean she isn't sick!!! ) and because she had negative ANA test results at 12 months. His exact words "a negative ANA will always be negative, this is NOT Lupus."

We started treating her arthritis with a variety of NSAIDs, then added methotrexate. When her feet started swelling up and her fatigue got worse they assumed that she needed stronger meds... I was concerned about a variety of lab abnormalities, (primarily and elevated BUN), and some high BP readings we'd seen at her endocrinologists office, (the only place they do BP on toddlers), but the docs kept saying it wasn't "that bad" or maybe a fluke.
I finally insisted on a simple urine test before upping meds yet again or giving her anything else. The urine test was shocking. She was spilling very large amounts of protein, red blood cells and white cells too.
To make that really long story shorter... we got a new rheumy and a nephrologist and she had a biopsy that confirmed "immune complex mediated glomerular disease with FSGS" Her kidneys are full of immune complex deposits including IgA, IgG, IgM and C1, and she already has sclerosis in 15-20% of the glomeruli. The nephrologist has only seen these findings in Lupus nephritis, but never in a child so young.

We also had to have the largest lymph node in her neck removed for biopsy, it also showed immune deposits.

Around the same time she had lupus labs repeated that now show a positive ANA, but still a negative anti-DNA. ??? The new rheumy says this still isn't SLE "yet" and we do not need to treat.... yet.....

A few weeks ago her new rheumy referred us to a neurologist because Emma's hands shake all the time now. She's having trouble writing and using a fork/spoon because of it. The neuro classified it as a "kinetic intention tremor" and scheduled her for an MRI to look for possible autoimmune brain/CNS involvement.

So, just writing this all down makes me want to cry!!!! Or maybe strangle a few doctors. I do not understand what is happening to my little girl and I do not understand why no doctor seems to know what to do about it. How is this not SLE? If it's not, then what??? I also understand that they want to avoid steroids and immune suppression because of her diabetes and age, and it's all very complicated, but how long do we "wait and see" how bad things might get before we treat?

Any advice, suggestions, experiences, stories, etc are greatly appreciated. I'm at my wits end and it seems impossible to find anyone who knows anything about this kind of AI nightmare.

Just FYI she is very sun sensitive now, it causes her BG to shoot up and she always gets a terrible rash on her face if we're out in the sun for long. She's also very sensitive to mosquito bites, I'm talking golf ball sized knots and fever. She has also had terrible reactions to immunizations and is now medically exempt from getting more.

 

[Katharine]

Hello Amy and welcome

I'm so sorry to hear what your daughter has already been through at such a young age. It is so hard to see a child suffer in that way.

I'm afraid I don't have any advice to give as your experience is way too complicated for my limited understanding. I'm sure that some of our members with better technical knowledge will be along soon.

Bye for now,
Katharine

 

[KarolH]

Hi Emmasmom and welcome to the forum.

WOW........you and your daughter have dealt with so much in 4 short years and it seems you are getting nowhere quick. That in itself is very frustrating.

I am relatively new to Lupus and yes, others will be along to offer great solid advice. The advice I will offer is simply what I would do if I were in your shoes.

First of all I think you need to seek another Rheumatologist and preferably one who specializes in pediatric Lupus. If you can not find one then at least one that specializes in Lupus. Also, has Emma been to a Hematologist? Again a pediatric one would be best suited for a 4 year old.

Does anyone in your family, or husbands family suffer with auto immune issues? I think I would also look in the direction of a Geneticist too as this beautiful child is so young to be dealing with so much, so quick.

Are you willing or able to travel with your daughter if you were to find a specialist for her be it on the East or West coast of the USA? If so then there may be someone outside of Texas that can and will provide answers.

Just because Emma does not have a positive dsDNA does NOT mean that this is not Lupus. I would run quickly to another doctor and get away from the one that told you that. Emma sounds like she has many signs of Lupus yet it mimics so many other auto immune things too.

I am so sorry that your daughter is this sick. Your post touched me deeply. Come here to vent, rant, scream and just to get support and knowledge. Others will be along to provide you with much more information then I could.

Also, join us in the chat room sometime. You can ask questions and get answers instantly...........along with making a few friends that really understand.

Keep us posted please. If your Avatar is Emma........SHE IS GORGEOUS!!!:wink2::wink2::wink2:

 

[Emmasmom]

Thanks ladies! Yes, that's my little sweetie in the pic.

We are currently traveling to see a pediatric rheumatologist in Dallas that is "one of the best in the country", or so I'm told. Of course, that does not mean she has much experience with Lupus in young children or is willing to think outside the box, few I've met do... I just want someone to take the time to figure it out. I don't think waiting for a crisis is the best way to go!

We have not seen a hematologist, I assume because her labs have been OK??? She's had high platelets and borderline anemia in the past, but it seems to correct itself. Other than some renal abnormalities everything has been OK. Should we see a hematologist?

If anyone has suggestions about pedi rheumy's that specialize in Lupus, anywhere, I am more than ready to seek another opinion. We have traveled to Denver and all over Texas to see specialists, so we would be happy to travel further if it meant getting answers.

As far as family history, my husband has type 1 diabetes, my father had type 1 diabetes and RA, my family is full of AI thyroid problems and celiac, but no one has ever had Lupus or any complicated mess of problems like this.

I should note that she is doing well overall and is a bright and happy little girl inspite of everything she's been through. Reading through my post makes her sound pretty pitiful, but she's one tough cookie!

 

[oesa]

HI Amy - I'm sorry your daughter is having such a rough go of things.

I was also a pediatric lupus diagnosis, and I think it took about 2 years from onset of symptoms to dx. (I'm 37 now.) It's complicated in kids. I will say that my definitive diagnosis came through a biopsy of a rash - lupus skin manifestations can clearly be identified in a pathology report. Has your daughter seen a dermatologist about her rashes? That may be an option you might want to consider.

I'd also be tempted to kick your current pedi-rheum to the curb. The kind of kidney involvement on your daughter's pathology report is textbook lupus nephritis and in my opinion, kidney disease needs immediate, aggressive treatment. We're not talking about rashes anymore, we're talking about life-sustaining organs. Even if they're not comfortable with a "label" at this point, some kind of medical treatment is probably warranted.

I saw a wonderful pediatric nephrologist, but in Canada. He's still practicing I think, and I can pass on his name via PM if you're interested.

Hope you get this resolved soon!

Lisa

 

[Lily]

Hi and :welcome: although I'm very sorry what brings you here You sound like a great Mum who only wants what is best for her child. She has some serious issues and I don't blame you for wanting to get her the best possible care.

I have no idea whether it would be possible or not but whilst he doesn't deal with peads specifically you do have an excellent world reknowned lupologist rheumy called Dr. Daniel Wallace in your country. He practices in California and if it's impossible for you to get to him I think it's worth a try contacting him for advice and referral to someone who has had experience with this. He of all people should at least be able to steer you in the right direction.

Good luck and do let us know how you and your beautiful daughter get along.

love
Lily

 

[KarolH]

I have no idea whether it would be possible or not but whilst he doesn't deal with peads specifically you do have an excellent world reknowned lupologist rheumy called Dr. Daniel Wallace in your country. He practices in California

I did not know that Dr. Wallace practiced in the USA. I only thought he was in London. WOW, I learn something new every day on this board.:wink2::wink2:

Amy.....Lily is right. If you can get in to see this doctor it would be the best thing in the world you could do. He is a incredible doctor and also put out one of the best books I have ever read.

The Lupus Book, by Dr. Daniel Wallace is a must have, written in laymans terms and you should run to buy this book. It is worth it's weight in gold.

 

[Emmasmom]

I will order the book today and I did look up Dr. Wallace's contact info. Thanks! I will find out if he is willing to see a child her age. I have attempted to have her seen by a few adult rheumatologists in the past and they always suggested that we stick with the pedi variety...

Has anyone here seen Dr. Thomas Lehman in NY?


Her nephrologist has her on ace inhibitors to slow the protein loss from her kidneys and it seems to be helping, (slowly). Her renal labs are normal, in spite of the small protein and moderate blood that her kidneys continue to spill. Stopping the arthritis meds made a huge difference too, they were stressing her kidneys a lot which is probably why we found the kidney disease so early.
Of course nothing that we're doing can reverse the damage or prevent more from happening. It's very scary, especially since she's already high risk for kidney damage with diabetes. We have a long, long road ahead.

 

[BigSis]

What an absolute sweetie your little girl is
I'm so sorry you all have this worry.
If you cannot get to Dr Wallace perhaps your current rheumy would consider a phone consult with him just to check he is doing all he can.
This colaboration is fairly common in England, specially in paeds.

Wishing you and Emma the very best.

 

[Maia]

Welcome to the site and I hope we can offer you as much support and (((hugs))) as you want! I have a 4 year old daughter too and don't even want to imagine going through all these things with her at that tender age. You definitely have a tough cookie there and she is very beautiful too.

I just met another little girl who is 4.5 and was diagnosed with JRA and questioned Crohn's too. She's in my daughter's gymnastics class! She was in the hospital on steroids and now takes a dose daily too among other medications. By looking at her now you would never know she ever had a problem other than she is now quite a bit smaller than her fraternal twin sister --- probably due to prednisone and/or her stomach issues.

Contacting Dr. Wallace and asking for his advice would be good - you could also consider the Mayo Clinic in Arizona or elsewhere. They seem to really specialize with the more rare and hard to diagnose things. I would be very frustrated with your current rheumy too - and would think that treatment would be warranted beyond what's been offered at this point. Was the ANA a low titre? I just wonder why he's so unwilling to dx something... The dermy for a biopsy is also an excellent idea to try to get a definite diagnosis.

Good luck and please keep in touch - I'll be thinking about you two & wishing for the best.

 

[elle-co]

I have to start by saying that she is sooooo beautiful

The others have offered you some very good advice. I just wanted to say welcome to the site and send you some hugs.
I hope that they get to the bottom of this all soon. It so sad that she is have to deal with this. It's good that she has such a caring mom to help her through it.

Hugs
Elle x

 

[Clare.T]

Hi

Dr Lehman is one of the foremost pediatric rheumatologists in the USA, probably in the world. I would want a pediatric specialist who has experience with children with lupus in dealing with children with lupus and the special problems kids have as well as other connective tissue diseases/ rheumatic diseases
www.goldscout.com

All the best
Clare

 

[Emmasmom]

Thank you all for your kind words and support.

Her neuro has scheduled an MRI of her brain for May 6th, so those results may help the rheumy decide on a course of action. (though I hope they don't :worried: ) Once that test is done and her next round of labs is complete I will work on finding another pedi rheumatologist to consult.

I wish there was some easy solution to all of it... sadly I know better. I will update you all when we get the results.

 

[Pink Pearl]

Hi Amy, Welcome to the board, and thank you so much for coming here. I simply cannot imagine what you are battling, and for sweet little Emma too.

While I was working at a health fair for the local LFA chapter (Seattle), we had a woman come up saying that her niece had just been dx with lupus at age 2. My heart just about broke for that family. She was dx at Seattle Children's Hospital.

My first suggestion is for you to contact National Jewish Hospital in Denver. They have nurses who have dealt with just such a problem on their phone bank. When I was initially diagnosed, and in such confusion, I contacted them several times. Their # is 1-800-222-5864. All their physicians are doing research as well as seeing patients. They have been trail blazers for many autoimmune conditions. Dr Wallace is at UCLA and is an incredibly knowledgeable physician about lupus. The reason I would suggest Nat Jewish, is Emma is dealing with multiple conditions, not just lupus. Contact both and pick your choice.

I showed my first lupus symptoms when I was 5. My parents didn't think to have things checked, and since I was, and still am, ana negative, no one pursued it until I was horribly ill 30 years later. So my heart goes out to Emma. She must be one very strong little girl to have survived all this and you can pat yourself on the back for keeping her sane thru everything.

A diagnosis of lupus is made on meeting 4 of 11 criteria with OR without lab work. For the list of criteria, go to http://www.uklupus.co.uk/dxlupus.html I know there will be someone who can give you that tho. Check off on the list of 11, how many you/Emma are meeting. If you check more than 4, then heck, the rheumy is not doing his job.

Firing a doctor is not a problem you need to worry about. You are working for Emma's best interests....and the doctors work FOR you! Not the other way around. Emma needs to be their main focus, and they are not doing their job if they withhold proper medical care for her.

I am impressed by your tenacity in pushing on with the cause for Emma. I am impressed by how much you have learned, out of survival, and that you are pushing on for her best interests. Happy Mother's Day! I hope it is a good one for you.
Sally