Hi there everyone. This is my first journal and I'm really not sure what to write but here goes nothing. I am the mother of a six year old boy that was diagnosed with SAPHO Syndrome in April, 2008. The road to that diagnoses was long, hard, and at times very scary and frustrating. Last year is when things got the worst because Rylee woke up with the left side of his face swollen and distorted. After 5 weeks of misdiagnoses I finally took him to the ER here in Newfoundland Canada where they did an ultra sound that was inconclusive. I bought him back the next day for an emergency CT Scan and that is when we were told that Rylee had a tumor in his jaw that was eating away the mandible and this type of cancer had a 50% mortality rate in the first 5 years. He was admitted immediately and was scheduled for a battery of test including a biopsy. Our lives shattered that day and we were living every parents worst nightmare. Because of postponements it took 14 days before the biopsy was finally done and at 6:30 in the evening the doctor came into Rylee's room to tell us that the pathologist's preliminary report showed no signs of cancer. In fact the doctors had things backward, the holes in his mandible were filled with fibrous tissue that formed the mass that was embedded in the jaw muscle. As you can imagine we were relieved beyond words but we still had no answers as to why this happened or what was going to be done to fix it. Two days later a doctor came to us and said that Rylee has SAPHO Syndrome and all she knew about this disease was what was wrote on the 2 sheets of paper that she was holding in her hand. Apparently, there was 1 doctor in the hospital that was curious about my son's case so he started to go over his whole life history, which was so long that they had began a third file on him, and as he put it "the pieces of the puzzle started to fit together". This doctor was the only doctor in the whole hospital that had even heard of SAPHO because there was one child that was wrongly diagnosed with it only 2 months before.
So started the roller coaster ride that we have been on since that day. To explain SAPHO to the best of my knowledge, it is an overactive immune system that attacks the skin, bones, and joints. To date Rylee has 4 out of the 5 markers for this. Ironically, the 1 that he doesn't have is the least painful.
The doctor that diagnosed Rylee sent us to the NIH and answered our prayers. There is no cure for him but thanks to the medications that the NIH doctor prescribed for Rylee, the holes in his jaw bone have since healed, the arthritis in his hips, face, and hands has subsided significantly, and his Pustules Psoriasis is cleared up 75% or more.
If anyone who reads this knows of other kids with SAPHO Syndrome, I would really appreciate it if they would contact me. I have never spoke to another parent of a child with this and I have only found 1 adult.
Thanks to those of you who took the time to read this journal entry and I'm sorry that it's so long.
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- By Mom_of_SAPHO_child
- Posted June 16, 2009 at 10:46 pm · 5 replies
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Cancer Arthritis Crohn's disease SAPHO syndrome Confusion Zantac Psoriasis Synovitis Fever Pain Lupus Diarrhea Methotrexate Folic acid
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- By kathleenchloe
- Posted September 6, 2009 at 6:20 pm
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hi my name is kathleen and i have a 10 yr daughter called chloe,
she has a joint pain for the last 3 yrs and now they have said it it sapho syndrome she has to get a mri test to confirm.
the last few yrs have had ups and downs some days not able to turn in bed walk and other she is able to run about as she has nothing a matter.
she had the spots on the hands but its taken all this time for them to be on her feet. the docs have told us its rare . over the yrs she has a different test bone scans etc and they told us once that she had idopatic arthritis.
its good to speak to someone as the pain for her has been awful for us to watch
- By Mom_of_SAPHO_child
- Posted September 7, 2009 at 9:48 pm
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Hi Kathleen, I am so glad that you wrote to me because even though we know that there is about 125 children in the world with SAPHO Syndrome, I have never got to speak to any of them. When we first got the diagnoses that Rylee has SAPHO we were devastated because no one could tell us much about it. That was a year and 5 months ago and life is so much better now. It was the not knowing that scared us and watching our little boy be in so much pain most of the time that was hard. Right now Rylee is taking Zantac (to help his belly pain that comes with taking his meds) Indocid (for the arthritis) Methotrexate (by needle once a week) also for arthritis and the pustulous psoriasis, and folic acid to help with the side effects of the Methotrexate. Yes he does take a lot of medicine but without them Rylee's life would be hell. Right now he can run and jump and play most days with minimal flare ups. His biggest issues are the side effects of the drugs, diarrhea, fever, and picking up every flu bug on the go because he is immune compromised because of the drugs. Without the help of the NIH, my little boy would be going through hell every day. SAPHO is a bad disease but it is something that can be treated and this is something that you will learn as soon they get Chloe diagnosed and put on the right medication. The doctors had to try a few things before they found what worked best for Rylee.
Are you at the NIH or are you planning on going there soon? I was also wondering if you live in Canada? One more question before I go, is there people in your family with psoriasis, arthritis, or crohn's disease? Apparently most or all of the kids with SAPHO have a lot of people in their family with these diseases. All 3 are in my family and I have crohn's disease so bad that I am unable to work.
I look forward to hearing from you again and if you have any questions please feel free to ask me anything.
Karen
- By kathleenchloe
- Posted September 8, 2009 at 5:06 pm
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hi karen
thanks for the reply . we live in the uk scotland.
my uncle and cousin have crohns and other uncle has ulcerated colitis, my husband has psoriasis, dont know if that would be to far down the family? what do you think .
cant think of anyone with arthritis at the moment.
we were at the hospital last week as a follow up and after all this time she now has the pustulous on her feet as she has always had them on her hands and they kept saying are you sure they havent been on the feet. at the moment she isnt to bad the pain just seem to be like tooth ache most of the time but now she can do everything a normal child can do the only thing is she cant sit on the floor at school crossed legged . but a year ago for about 18 months some days she wasnt able to put on her cardigan as her shoulder was that sore, turning over in her bed as my husband had to carry her out of the bed and maybe 1 hr later she was able to walk but now and again she got really sharp pains which would make her stop walking.
we were going to go private as it was that bad that the school were on the phone three times a week because of the pain even her just sitting at a desk. anything that they gave her didnt touch the pain. she has had test after test for lupus and all sorts of things and now after looking at her feet they has said sapho syndrome and to go and look it up on the computar. and that they would do a mri scan, they did say it was really rare, so i managed to stumble across this site.
do you think this sounds like rylee?
i hope that the medicine keeps the pain at bay and it so sad to read about all the medicine side effects.do you think that the doc are quite sure before they say sapho syndrome. its so sad to read about rylee. did it show in any of rylee tests or was it just in the mri? sorry for all the questions.
where is it you stay?
i hope to speak soon.
kathleen
- By Mom_of_SAPHO_child
- Posted September 9, 2009 at 6:40 pm
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Hi Kathleen, sorry for the confusion but when you asked if I got your letter I thought you meant the first one. So now I will try and answer your questions. We are from Newfoundland Canada, I am 46 and Rylee's dad Roger is almost 50. we have a 21 year old (pregnant) daughter so Rylee will be an uncle in January. I guess that makes me a grandmother, lol. There is 15 years between my children and that was God's choice not ours and we are loving it.
Chloe sounds a lot like Rylee when it comes to the pain and the pustules on her hands and feet. Rylee has had them in his head and most recently over all parts of his body but the hands and feet are the worst. He started with problems right from birth with his skull and skin but was wrongly diagnosed on both. Then, he was very late walking (17 months) and by the time he was 20 months we noticed that if he was too active or sat in his car seat for more than an hour he would not be able to walk for weeks. At the age of 2 and a half the doctors finally started looking for a reason for this. They found out that one of Rylee's hips had transient synovitis and oestiopenia but because there is so many cases of another hip disease in his dad's family, they have been watching for that to happen. It's called Perthe's disease and the hip will pop out of its socket and they will have to operate and put him in a body cast for 2 years. Now that he has been diagnosed with SAPHO I'm not so sure if he will end up with Perth's disease or not. I know what you mean when you talk about Chloe not being able to sit for a long time or having trouble getting dressed because we see that in Rylee. Another thing that amazed me about him is that we couldn't tell if he was right or left handed because whenever his little hand got sore from trying to hold his pencil, he would just switch hands until that one got sore from the arthritis.
You asked if I thought that the cases of crohn's were to far back in the family to matter. I think that if they are in your family anywhere then it is more than likely in other relatives that just don't know it yet.
- By kathleenchloe
- Posted September 9, 2009 at 7:04 pm
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they thought that chloe could have perthes as my cousin has it but he has about 2inch difference in leg lenght.
chloe has three quarter of an inch in leg lenght difference . she wears orthitic in her shoes but they have told us that the difference would not give her all that pain. thats when they said idopathic juvinile arthrits.
dont know if that is the right spelling. also they noticed on an xray that the pelvis is tilted slightly
chloe doesnt seem near as bad a rylee.
when chloe was born she did have quite delicate skin but chloe used to get alot of urine infections which were due to reflux on the kidneys.
she has face swellings around the eye socket , cheek area but even that has settled down the last year as i said she is really quite good at the moment i am just hoping that they are wrong and the mri comes back clear.
its quite hard to find out anything about sapho.
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