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#13822 - 04/14/07 10:14 AM Hello from SJ, CA USA
momof3 Offline
Member

Registered: 04/12/07
Posts: 209
Loc: SJ, CA USA
Hello Everyone,

My name is Suzanne. My husband and I have three children. Our oldest children are boy/girl twins who are 6 1/2 years old. Other than having asthma, they are healthy children. Our youngest, Dane, turned 2 in December, yet he's been through more testing, doctor's appts., than most adults do in their lifetime (I'm sure so many of you can relate to that). Dane was born completely healthy, was over 8 lbs. at birth, and as far as we knew, we were taking home a completely healthy newborn. At about 7 weeks of age that all changed. His skin began to deteriorate before our eyes, and it was as if we were watching a runaway train. At the time, the doctors first approached it pretty nonchalantly, saying it was probably yeast...then atopic dermatitis, and then seborrheic dermatitis. As his hair and eyelashes began to fall out, and as he began to rapidly lose weight, amongst other conditions, Netherton Syndrome became the suspected cause. However, after genetic testing at Stanford, Dane tested as "not a match", and thus we were left without a diagnosis. We've been to many hospitals, dermatologists, metabolic doctors, you name it, and we remain without a diagnosis. Dane is very erytherdermic from head to toe, he is completely bald with a very scaly scalp, his hands and feet are very caked up with dead skin, and even his fingernails are weak and frayed in some areas, thick tough in others. His skin changes all the time. He's also very small for his age(@26lbs, and 31" tall). He's been through so much (having an older brother and sister, he's been exposed to so many germs...at one time all three of my kids had pneumonia). He's also had numerous ear infections, and now we are constantly battling staph infections. Yet, through it all my husband and I continue to marvel at his strength to get through all of his battles. His development otherwise has been amazing. He's a very smart little guy, and he's got such an amazing spirit. He loves to play with his older brother and sister, coloring, playing hide and seek around the house, etc.. He loves to thumb through magazines and books, and rarely complains about anything except for when he's very itchy. The hardest thing about all of this is the unknown. It's been such a rollercoaster...some days things are looking up so high you can't believe it, the next, it doesn't seem like it could be any worse. Thankfully, we have our faith, and that gets us through the very hard times. I know there is a plan for Dane, and I know we don't need to worry. I've been checking out this board for awhile now (in the beginning my aunt even contacted a few of you regarding questions about NS) and I felt it was time to finally get connected. Being a family of 5, I was overwhelmed in the beginning, not knowing where we were going with all of this. I feel like I, too, may be able to help others with products we've tried, etc.., and I know that I have others now that I can turn to with questions. So many of you have mentioned that at times you've been treated like you're crazy with one of your observations and I can truly attest to that. Only those living this can truly get the picture.

That was a very long first entry, and yet I've left off most of our journey. Somehow I know that you completely understand. I look forward to getting to know all of you.

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#13823 - 04/14/07 02:17 PM Re: Hello from SJ, CA USA
marcsmom_dup1 Offline

Member

Registered: 08/12/00
Posts: 107
Loc: Wantagh, NY USA
Hi Suzanne,

Welcome to the board! My name is Denise and my son, Marc was born with lamellar ichthyosis 10 years ago (I am also mom to Eric, 4. He does not have ichthyosis). He spent two weeks in the NICU when he was born and the doctors didn't think he would survive. I know exactly what you mean when you say you feel as though you have been on a rollercoaster!

I am glad you found us! The moms and dads on this board are great and we all know what you are going through. On this board you will get answers to your questions, advice and you can even just come here to vent your frustrations. We all understand. [img]http://www.ichthyosis.com/ubb/smile.gif[/img]

You might also want to check out, if you haven't already, www.scalyskin.org. It is the website for the Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.) They are a wonderful organization and many of us here are members. Every two years, F.I.R.S.T. holds a family conference which is so informative and helpful because you actually get to meet many people who are part of the *ichthyosis family.* The next conference is scheduled for June/July 2008. Hopefully you will be able to attend!

I look forward to your posts.

Denise [img]http://www.ichthyosis.com/ubb/smile.gif[/img]

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#13824 - 04/14/07 04:41 PM Re: Hello from SJ, CA USA
CShell Offline
Member

Registered: 11/10/05
Posts: 1193
Loc: Fort Meade, MD
Hi Suzanne! My name's Courtney, and my 18 month old daughter Julia has Netherton's Syndrome. We actually lived in Monterey when she was born, and saw dermatologists and GI docs at Stanford (Dr. Adams was our main derm.). We now live in Maryland, and see her specialists at Johns Hopkins.

I'm glad you found us here! Do you know what other types they might be looking into for your son?

For itching, I'd suggest a bath oil called Robathol. You can get it at dermadoctor.com, it's $11 or something like that. It really helps Julia, because she gets itchy a lot.

Feel free to e-mail me if you want to chat!

[This message has been edited by CShell (edited April 14, 2007).]
_________________________
Courtney
Mom to Julia

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#13825 - 04/14/07 06:51 PM Re: Hello from SJ, CA USA
texlex99_dup1 Offline
Member

Registered: 09/28/06
Posts: 128
Loc: Brooklyn Park, MN USA
Hi Suzanne, My name is Becky and I am 35 years old and I have nethertons syndrome. My older brother and I both have the same condition, we were the 17 and 18th case reported back in 1970 and 71. Some of the symptoms you described sound totally like nethertons. I too have very little hair and VERY scaly on top. What hair I do have is very brittle, also known as bamboo hair.

What type of personal hygiene do you do for him, such as how often does he bathe, and what types of creams do you use? Please feel free to email me with any questions, and I hope that I can help.

I'm glad that you found the boards, they really are a very useful tool, in dealing with any type of ichthyosis.

Becky

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#13826 - 04/14/07 10:06 PM Re: Hello from SJ, CA USA
momof3 Offline
Member

Registered: 04/12/07
Posts: 209
Loc: SJ, CA USA
Hi again,

Thank you for your responses. It's great to hear from all of you. Yes, I've registered Dane with F.I.R.S.T.. What a great resource. I'd really like to make the next convention.

As for reaching a definitive diagnosis,the doctors have sort of thrown their hands up as to what Dane has. His current dermatologist isn't convinced it's NS, however, we've had a handful tell us that clinically he looks like it, and they'd guess there's an 80% chance he does even though he did not test positive. He looks like he has NS, but none of his blood work ups match (he has normal IgE levels, never has high sodium levels, has normal protein levels, etc. etc., and his hair, what very very little fuzz he has, does not show the bamboo shaft under the microscope. It's puzzling. There was a time when I thought he was getting better because his skin cleared up for about 3 days..it became smooth and white. Then overnight it began to get flaky and red on his back, until it eventually went all over body again. We've done all of the food allergy testing (even putting him on an extremely restrictive diet), GI testing, metabolic testing, lymph node biopsy (as he has swollen lymph nodes), skin biopsies...and still nothing. We're at the point now where we want to just leave his sweet little self alone, and let him just live. He used to have reflux, but that has improved significantly. He does get checked by a cardiac specialist, as he has a very slight murmur and a trace leak in his mitral valve, which the doc attributes to his chronic skin condition. As I mentioned in my original post, our big battle now is MRSA infections. It seems like the minute he's off his antibiotic (there's only one oral one that he's not resistant to), the staph comes back. We use bleach in his baths, but that doesn't seem to be enough, and is very caustic to his already fragile skin. I've been trying homeopathic methods as well (tea tree oil, oil of oregano), but it seems like it responds immediately to the antibiotic (Linesolid). Right now the doctors are trying to learn from Dane, I think. They're dealing with a skin condition they don't really understand, with a super infection that is fairly new. Dane's skin just deteriorates when he gets these infections. He'll go from looking pretty intact and less red, to extremely red, with a yellowish film over his skin (especially his head) that just slides off at the touch. Underneath, he'll have very raw, wet red skin. Then, after one dose of antibiotic, we'll start to see healing. After two days, he'll look remarkably better. The problem is, he can't be living on these meds. This one in particular, is known to affect blood pressure, and significantly lowers the white blood cell count.

Ok, I guess this is a whole other topic. Have any of you with NS experienced anything like this? As for his baths, I used to use seaweed and dead sea salts, until he got old enough to not like the looks of the seaweed in the tub. I'm stuck using the bleach at this point with his infections, but I've also used the Cetaphil antibacterial soaps. Oh, and Courtney, thanks so much for the tip. I just ordered the bath oil you recommended. Dane gets itchy a lot, too, especially when he gets the skin infections or when he overheats. He justs walks around playing and itching, as if it's just a way of life. Their tolerance level just amazes me!

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#13827 - 04/15/07 01:49 AM Re: Hello from SJ, CA USA
momof3 Offline
Member

Registered: 04/12/07
Posts: 209
Loc: SJ, CA USA
I forgot to answer Becky's question about creams. We mostly use Aquaphor on Dane's skin, but we also use Eucerin, shea butter, an eczema cream made by MerryClinic (which gives a lot of relief), Vanicream, and many many others. We often rotate, as Courtney mentioned on another post, as Dane also seems to respond well for awhile to one product, and then suddenly becomes irritated by it. I have a closet filled with creams/lotions, etc.. We've tried steroid creams/ointments when he's really bad, the problem is that staph loves steroids, so it can be a catch 22. Dane also gets very white when first on systemic steroids, but as he weans off, he has a horrible rebound reaction occur, which puts him in a worse state than what he had begun with. We stay away from the steroids as much as possible, unless he has a bad respiratory virus (since he can be very asthmatic with certain colds).

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#13828 - 04/15/07 03:52 AM Re: Hello from SJ, CA USA
CShell Offline
Member

Registered: 11/10/05
Posts: 1193
Loc: Fort Meade, MD
Interesting!

Julia's bamboo hair didn't show up until she was about 5 or 6 months old, but I did read somewhere online that it can take YEARS to appear, which is why the diagnosis can't be primarily based on the hair follicle test.

Jules has never had a high IgE level, and she doesn't have any allergies that we know of (though she did show a slight intolerance to milk protein, but it's not enough that she can't have dairy). None of the typical tests for NS showed up positive for her, aside from the DNA test (husband and I actually have two different recessive mutations), which was why for awhile I was so reluctant to admit she had it! Her albumen levels were pretty low as a newborn, but haven't been an issue for almost a year now.

She did have pretty severe weight gain issues, but not all NS patients have failure to thrive. She's been night NG tube fed since she was 8 months old, we put the tube in at night and take it out in the morning. She's weaned on and off of it for months now, currently she's off and taking all of her calories orally.

I guess it's not necessary to have a definate diagnosis, but if you do think there's a possibility of NS, stay away from things like lactic acids/alpha hydroxys, because the skin with NS is so thin that they absorb too much (there's less layers of skin, while with the other forms of ichthyosis, there's more than average layers of skin, I guess). I think the problem lessens the older they get.

I do remember Dr. Adams saying that they haven't identified all the mutations of NS, either. So it's possible he has a different one - maybe you and your husband should get tested? We signed up for a research study at the University of Washington, and they did my husband's and my DNA test for free; you could maybe contact them about that.

Jules does get random infections; funny, when we were breastfeeding she had ONE, and as soon as she weaned, she's had about one a month. We just use Keflex, or a topic antibiotic, and it clears up. But what you've described (wet, raw skin underneath a thin layer of dry skin) is exactly how her skin gets when she does have one. When she's sick, her skin deteriorates, and it takes awhile to get back to "normal". We've been using 2.5% hyrocortisone on spots on her skin, and it's really cleared it up.
_________________________
Courtney
Mom to Julia

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#13829 - 04/15/07 05:37 PM Re: Hello from SJ, CA USA
momof3 Offline
Member

Registered: 04/12/07
Posts: 209
Loc: SJ, CA USA
Yes, I've read that the bamboo hair can show up later. Also, the genetic specialist we saw at Stanford also mentioned to us that they haven't identified all of the mutations of NS. She said the entire Spink5 gene was intact and looked normal, but we've been down practically every other road. I know what you mean about not believing it at first. We were completely in disbelief that he could possibly have an incurable lifelong problem. Our other two children were unaffected, so we just couldn't believe he had something so rare. A definitive diagnosis would be nice. We're human, and would like not only an answer, but also to stop all of the experimental treatments he's had (including Methatrexate and Accutane). We really want to just treat him as if he has NS, as it really sounds like he has it. We just are puzzled by the nail problems he has as well. I didn't mention before that Dane had to have 6 of his front teeth extracted (top 4, bottom 2) which was quite devastating at the time (especially since my husband is an orthodontist). My husband and the pediatric dentist studied the teeth after they had been extracted, and the morphology of the teeth look normal. Thus, we're left to believe that chipping the first two teeth, and then the acidic nature of his mouth due to the reflux caused the decay. I still wonder what to expect with the rest of his teeth. So far, they look ok.

As for future genetic testing, we really were all for getting tested, but they told us that it was pointless if he tested negative. We're calling Mary Williams at UCSF this week to see if she could offer us any help. We've been to "everyone" except for her. A specialist (not a derm) at a certain university actually joked when I mentioned Dane possibly having NS by saying, "oh, I doubt it unless you and your husband are related"....I didn't find that very funny. I'm realizing there's a lot of misunderstanding about what some of these genetic conditions really involve. The specialists also seem to not understand that many of these children affected by these disorders are developing normally otherwise, and are very bright. One specialist I went to said his cognitive development was too advanced for him to have NS. It's a little frustrating that they really don't realize that there's so much to learn about NS, along with other conditions. They really generalize the disorder as if everyone is affected the same exact way.

I'm glad the hydrocortizone is working for Julia. It's great for smaller areas, and for the areas that are more raised (as it thins the skin). At times, it does work for Dane. We've tried Elidel before. It worked on small areas, but as I mentioned before, his skin changes a lot, and being that he's affected from head to toe, it's not something we're using right now. It sounds like it could be really helpful for Julia. I pray you get great results!

Quote:
Originally posted by CShell:
Interesting!

Julia's bamboo hair didn't show up until she was about 5 or 6 months old, but I did read somewhere online that it can take YEARS to appear, which is why the diagnosis can't be primarily based on the hair follicle test.

Jules has never had a high IgE level, and she doesn't have any allergies that we know of (though she did show a slight intolerance to milk protein, but it's not enough that she can't have dairy). None of the typical tests for NS showed up positive for her, aside from the DNA test (husband and I actually have two different recessive mutations), which was why for awhile I was so reluctant to admit she had it! Her albumen levels were pretty low as a newborn, but haven't been an issue for almost a year now.

She did have pretty severe weight gain issues, but not all NS patients have failure to thrive. She's been night NG tube fed since she was 8 months old, we put the tube in at night and take it out in the morning. She's weaned on and off of it for months now, currently she's off and taking all of her calories orally.

I guess it's not necessary to have a definate diagnosis, but if you do think there's a possibility of NS, stay away from things like lactic acids/alpha hydroxys, because the skin with NS is so thin that they absorb too much (there's less layers of skin, while with the other forms of ichthyosis, there's more than average layers of skin, I guess). I think the problem lessens the older they get.

I do remember Dr. Adams saying that they haven't identified all the mutations of NS, either. So it's possible he has a different one - maybe you and your husband should get tested? We signed up for a research study at the University of Washington, and they did my husband's and my DNA test for free; you could maybe contact them about that.

Jules does get random infections; funny, when we were breastfeeding she had ONE, and as soon as she weaned, she's had about one a month. We just use Keflex, or a topic antibiotic, and it clears up. But what you've described (wet, raw skin underneath a thin layer of dry skin) is exactly how her skin gets when she does have one. When she's sick, her skin deteriorates, and it takes awhile to get back to "normal". We've been using 2.5% hyrocortisone on spots on her skin, and it's really cleared it up.

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#13830 - 04/15/07 07:21 PM Re: Hello from SJ, CA USA
CShell Offline
Member

Registered: 11/10/05
Posts: 1193
Loc: Fort Meade, MD
It really is frustrating that a lot of doctors don't know much about Netherton's, let alone ichthyosis in general. The first dermatologist we saw just kept saying it was atopic dermititis, even though the hyrocortisone he prescribed for her *entire* body wasn't making a difference.

I think for parents to be related, they'd have to have the same exact mutation, and even then they could be like, 50th cousins removed or something. DH and I have different mutations, so we're definately not related lol

Also just thought I'd add, Julia's tested a few months ahead with her cognitive development, though she's quite a bit behind with her physical because of the failure to thrive. She's just starting to crawl, walk with assistance, and pull up, and she's 18 months old. Most people with NS that I've talked to didn't walk until they were closer to 2. I think doctors associate a slower mental development rate with NS, because of the high incidence of failure to thrive. If it gets bad enough, it *can* affect mental development b/c their not retaining enough nutrients. Luckily we caught it and fixed the problem, so this isn't the case with Jules. I don't know anyone with NS that has any mental development problems, actually.

Julia's nails are really brittle, especially on her feet. I accidentally snapped off one of her toenails just trying to clip it with clippers. So owch lol We haven't noticed any problems with her teeth, and our last ped. said we shouldn't expect any - because while usually hair problems lead to nail/teeth problems, the hair problems with NS is in the DNA mutation and not anything else (lack of nutrients, whatever, that leads to brittle teeth). Interesting about his teeth, and I'm sorry he had to go through an extraction!! Sounds painful!

Dr. Williams is fantastic, we met with her once after Jules was diagnosed. She sees a lot of ichthyosis patients. We got ridiculously lost in San Francisco trying to get there, too lol She recommended a cream called Triceram, which when we first used it (Jules was about 5 months old) didn't work at all; but this past December we bought it again and it made a difference in her inflammation. However, it only worked for 2-3 weeks, and then stopped. Plus it's pretty expensive for such a small tube! lol

You sound like you're handling all this really well, much better than I did when Julia first started to have problems. We'll look forward to meeting you at the conference as well, we went last year and it was one of the best experiences I've had!
_________________________
Courtney
Mom to Julia

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#13831 - 04/15/07 09:39 PM Re: Hello from SJ, CA USA
texlex99_dup1 Offline
Member

Registered: 09/28/06
Posts: 128
Loc: Brooklyn Park, MN USA
Hi Suzanne, I'm glad that the aquaphor works well for you, over the last 35 years, I've tried many different creams/lotions. But aquaphor has been the only one that my skin doesn't get used to and continues to work well for me. The other thing I use for my legs especially is 2%hydrocortisone mixed with aquaphor. As far as soaps go, when I was little my mom usually just bathed my brother and I in plain water, because all the soaps were to bad on our skin. We did use a soap called Phisoderm for a long time, but they changed the formula about 10 years ago, and I can't use it anymore. I've had good results with Aquaphor Gentle Wash, but it really is tough to find. I found it at a CVS Pharmacy. But even with that, I can't use it everyday, or I start to react to it. So still plain water is best. His symptoms really sound like NS to me, and my best advice to you would be to trust your instincts on what you think. If you think that he has NS, I would go that route in treating him. You are the BEST judge, and in my opinion doctors really don't know that much about it anyways. Back in 1970 and 1971 there wasn't a test to determine that it was NS, they just checked for the bamboo hair. We did have lots of allergies when we were younger. We were allergic to oranges, grapes, tomatoes, chocolate, egg whites, all types of nuts, peanuts, and peanut butter, and soy. We grew out of most of the allergies, but we still are allergic to nuts, peanuts, peanut butter, and egg whites.

Is Dane allergic to anything? As far as itching goes, my recommendation to help control that would be to keep the benedryl and hydroxizine in his system full time. He will be very tired in the beginning, but once he has a constant level in his system, he should get used to it. My brother and I got through our childhood taking both of those two together round the clock. Even now at 35 when I am really having a hard time with the itch (usually during change of seasons) I start taking my benedryl and hydroxizine round the clock. Have you noticed if he is able to sweat? I don't sweat well at all, so when it is really hot and humid, I have to be careful that I don't overheat, because then I pass out.

Did I ask you how often you bathe him? I have to shower everyday, sometimes 2x a day. But sitting in the bath really helped with the red weepy areas when I was little.

Please feel free to email me with any questions, and I hope that I will be able to help in some way. My mom wishes that something like this board would have been around when my brother and I were little, as she felt so isolated. But she and my Dad really did a fantastic job.

Hope to talk to you soon again!

Becky

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