ALPS

hi..I am a parent of an 8 year old girl who was diagnosed with ALPS at the age of 2...I have yet to meet or speak with other parents who have a child/children with this disease. Hoping to conect with someone to share stories and give support...please contact me...

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Hi Jane..I am going to find out more info on the 18th of June...I will keep u posted! Laura

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Laura,
How did you appointment go yesterday? Will you be starting that new drug to shrink your daughter's spleen?
Jane

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Hi there ALPS parents! We are new to this diagnosis. In fact we have just had blood drawn this am and sent to Cincinati for the genetic test to be done. Our Daughter's haem/oc doc here in Ontario, Canada in conjunction with Dr. Rau at NIH is certain (98%) this is what she has. She has had health problems since she was about 5 months old. It has been a rocky road so far. After a very serious critical acute illness stage in May and June they have come up with this diagnosis. Even without the confirmed diagnosis she was started on high dose Prednisone as a managing treatment. As we are just starting down the ALPS path I would welcome the histories of some of your children, their successes with certain meds, and any info you could provide from your own experiences. Mira will be 4 on July 13th, she has an enormous spleen, and has at least since she was a baby. Her liver is enlarged as well. She has transfusion dependent anemia and receives Packed red cells about every 2 weeks. She has had constant and chronic lung disease, with periods of wellness. Most recently she had a strep pnuemo infection that cause septic shock, nearly lost her. We went home for a week and then came back in because of severe pain in her abdomen and back. Her Reds and platelets had bottomed out and after a CT scan it was discovered that she had bled inside her liver possible several times over an unknown period. She has never had normal platelets but only recently has she needed transfusions for them. She has constant bowel and tummy issues, and has had a distended belly for her whole life. Listing as much as I can in order to possibly draw some parellels to some of your kids. I would love to hear from any and all of you. From what we know,I gather we are not a large group. I am reading info on different drugs that some of you are currently trying and would love to get your take on them. Thanks. Krista (MirasMom)

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My daughter has been on cellcept for 8 weeks. She was on 1500 mg/day but found it made her very anxious and even a little depressed. She tapered back to 1000mg/day and is feeling great. Not too many side effects so far other than the emotional ones. Her spleen is shrinking. It's an inch smaller when measured around on the outside and when the doctor measures from rib down, it's 1 cm smaller. However, most obviously, her "outy" belly button is now an "inny"! We are very excited with the progress in such a short time. We have high hopes for more shrinking!

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Hi Alps parents ,
I am so glad that I have finally a place to go to get some answeres and ideas from other parents.
Had a scare last month! My daughters brain started swelling And all tests came back negative, they put her on massive stress steroids doses and every antibiotic under the sun. They never could figure out what caused this.Has this ever happened to one of you?
Also the prednisone is really slowing down her growth and they suggested maybe hormone therapy,but I am just not sure on what to do.Thank god she is going to be 1 years old next month!! but she looks like a 5 month old.Next month they want to talk to us about her one year shots,The ones containing live viruses to let us decide and advice us if we want to give them to her. What have you parents decided on theses shots and this new swine flu vaccine

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Anybody there. Anxious to get in touch with parents to hear their stories. From beginning to end in order to compare and see if there is some sort of commonality that we could find in some of these kids stories that would help give some ideas as to the right next step. My daughter was on prednisone, for 6 months, May to October 2009. She was put on Sirolimus, November 2009, then a serious hospital admission, then taken off because of interactions with Voriconizole and Exjade. It seemed to help though. Her White counts came down and her spleen is smaller. She is on cellcept now, hoping it will take over where the Sirolimus left off. She has had no side effects to either one that we have noticed. Her diahrea may have been slightly worse for a time but hard to tell. The only minor problem was mouth sores from the sirolimus that did not seem to bother her at all. Please contact me to let me know if your interested in sharing your whole story. Also interested in your experiences and opinions about NIH. We are in Canada and awaiting possible visit there. Would like to connect with other parents face to face if possible when there if we go. Please respond. I am rarely on here and would like to get a group that I could regularly chat to. THanks.
Krista

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Hi I am new here. We have been trying to figure out why my 13 month old DD's WBC is so high for the past 6 months. In Jan 2010 we started seeing a Hematologist/Oncologist. Two weeks ago, he did testing for ALPS. The testing was sent to Cincinnati Children's Hospital. He called today to tell me that he got some results and they show that it is "suggestive" that she has ALPS. 2 tests were positive for it and 2 were negative. He was that they will be doing genetic testing on May 5th in order to get a certain diagnosis of ALPS. I am all new to this. Did you all have to go through this same path of testing. How likely is it that she has ALPS with 2 positive tests and 2 negative ones. Her DR made me feel like the genetic testing was being done to confirm that she does have it but he already thinks that she does have it with the testing that he has done so far. She appears to be a healthy and happy baby. What can i expect as she gets a little older? She is only 13 months right now, is it too early to see any problems? She does have eczema on her face pretty bad, her DR thought that it might be possible that the ALPS is what is causing that. It seems so hard to find any info and anyone dealing with ALPS.

Denise

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Hi everybody, I have a 16 year old son who was only just diagnosed with alps disease 6 months ago. He has had hemolytic anemia since he was 3 having transfusions up until he was 5 when they removed his spleen it was just chewing up all his red cells. He has been on antboitics since then and will continue for life. So the diagnosis after all this time brought some relief. He is going to an immune deficiency specialist on wed 5 may 2010. to find out what type etc. But my son did have bad eczema was always pale and always having blood tests .

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monica1958-
My 14 month old daughter has not been fully diagnosed with ALPS yet but we have had 2 positive tests out of 4 come back for ALPS. We will be doing the genetic testing on May 5th, I am assuming to confirm that she does have it. Do you know if the genetic testing will confirm which type of ALPS is present? She has also had eczema since she was 2 months old. We first learned our daughters WBC was high (28,000) when she was only 2 weeks old. She was hospitalized for 3 days, she had some other issues going on with her formula, diarrhea, acid reflux, dehydration... When we were discharged we just assumed that her WBC was high because of everything else that was going on and they saw it was down to 20,000 they assumed that it was going to go to normal. BUT when we had routine blood work done at 9 months old, we learned it was still at 20,000. So we monitored it for 2 months and they kept telling me that it was from viral infections. Eventually we started seeing a hematologist/oncologist and he too at first said that it could be because of her repeated viral infections. So we monitored it weekly for a month. During that time we had WBCs as high as 32,000, most of which were lymphocytes. So a month ago we did the ALPS testing which was sent to Cincinnati Children's Hospital. Her DR called me 2 weeks ago to tell me that the testing showed that she cold have ALPS with the 2 positive tests. So now we have our appt on Wed (May 5th) for further testing. Do you know what type of testing they have to do on your son to confirm the type? Do you know if your son's WBC was high before he got hemolytic anemia? Her DR has told us that she could develop low RBC and low Platelets as she gets a little older. has your son ever taken steroid treatments in order to treat his symptoms of ALPS. That is another treatment that her DR has mentioned to us. I am not sure what has to be present in order for them to use that treatment.

Keep me posted, I too have been searching for someone to talk to about my Daughter and ALPS.

Denise

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Hello again, My son when he was about 2 had high wbc but they put that down to a tonsil infection he had it many months later it was still high then his rbc started going low he started having blood transfusions but after a year he needed them every week so they took his spleen. A baby was brought into the hospital with diagnosed alps disease and my heamotologist thought her symptons sounded like Anthonys. So he was tested im not sure what blood test is called but they took 35m of blood and the blood had to keep monitored for 3 days it was a specialized test. Anthony has 2 of the major criteria and at least 3 minor .But no he hasnt needed steroids yet. We were given information from British journal of Haematology Advances in the management and understanding of autoimmune lymphoproliferative syndrome if you can get that off the internet. Does your daughter have an enlarged spleen?I too have a lot of questions i will be asking his immune specialist on 5th same as yours .Nice talking to you Btw Im from Adelaide Australia. Monica

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Hi Monica,
Wow, you are from Australia!! I am from Pennsylvania, USA. I am glad to have found you. I feel like I have been all alone with all of this. It is really hard to find anyone that knows anything about ALPS. Most people act like the possibility of her having ALPS is no big deal so it is frustrating at times.

How is your son doing now? Is he still having problems with his RBC? Did having the spleen removed help him or did he continue to have issues throughout his younger childhood years? You mentioned that he had eczema, was his mainly on his face? And does he still have the eczema? Aishlin's eczema is mainly on her face and it is bad enough that we have to use topical steroids (prescription strength). If we do not is gets all infected and bleeding. Sorry for all the questions.

At this point, my daughters spleen is not enlarged. Her DR does check that at every appt. Really the only issues she has had so far are the HIGH WBCs. But I am thinking that it may be too soon for her to display other symptoms of ALPS. She is only 14 months old now. That is why I was wondering when your son first started showing symptoms of having a problem....right now Aishlin seems fine...just a happy little baby girl.

I think we had the same specialized testing done that you spoke of last month. From that testing, I was told that out of the 4 criteria for ALPS testing, Aishlin had 2 positive tests. I hope to find out more about all of that testing tomorrow. We will also get the genetic testing done and I am sure that will take a few weeks for the results.

I do not know if you have any other children but if you do have they been tested for ALPS yet? Her DR told us that once we get a 100% diagnosis that we may need to have her siblings tested as well.

Well, I have to get going and get a few things done here before it is time to make lunch. I look forward to talking with you.

Denise

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Hi Denise, Anthony's condition too is not 100% I will find out more today. First his eczema he had for years mainly on face . But he didnt show any symptons until he was about 3 they first thought he had leaukemia.And found his spleen enlarging then. It got so large and transfusions so frequent they took it out at 5. He has had no trouble at all with rbc count since. He has very large glands on neck underarm and groin, mainly neck. This is a very prominent feature in Alps. He saw the Dr every 3 months after the spleen came out and no problems with his blood but his blood tests always came back unusual.You are right they dont seem to make a big deal out of the disease and they get better as they get older but they are more prone to autoimmune diseases such as thyroid arthritis etc. and have an increased risk of lymphona. Once Anthony is 100% diagnosed i will get tested as will my daughter. In my family we have alot of thyroid problems so it could be connected. I will let you know how we go today as i have a lot of questions for the Dr. This is a new disease and as mothers we have every right to be worried, so hang in there do as much research as you can. My son got through his younger years with a lot of time in hospital and he is now pretty well.Its just a worry with his spleen removed he cant fight off bacterial infections. Speak to you soon.. Take care Monica

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Monica,

Thank you for sharing your sons story, it really helps to hear from others who have been there. I am glad that your son seems to be doing a little better now but it sounds like he had a pretty rough time with it throughout his younger years. It is awful that he had to go through all of that, it sounds like he was a trooper through it all.

I know the leukemia fears, we have been through that. It is scary though that they will be at increased risk of developing lymphoma. Her DR has talked with me about that already. That is why I feel that her DR is pretty sure she has it but needs to get a confirmation before telling us she definitely has it. He also told me that her RBCs and platelets could go low and even her WBC too. He told us that Aishlin would have to come to the hematology/oncology clinic at the hospital for blood work every 3 months so that they could monitor her levels. I guess I will find out more tomorrow.

I hope everything goes well at your appointment today. I hope you can get some more answers. My appointment is tomorrow, (in about 14 hours to be exact) so I will update you once we get back too.

Talk with you soon.
Denise

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Hi Denise, Well we have come out of Anthony's app knowing no more than we already did. Anthony has to start genetic testing in 3 mths. and the tests get sent to America. So for now they will monitor symptons. Let me know how your daughter goes please. Keep well. Monica

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Monica,

I am so sorry that you were not able to find out anything more. I know how frustrated you must be feeling. 3 months seems so long and if it has to be sent to America, I am sure that the testing will take awhile to get back once you get it done. Do you know if the test has to go to Children's Hospital in Cincinnati? That is where all of our testing has been going. They have a specialized Molecular Genetic Lab. Here is the link.
http://www.cincinnatichildrens.org/svc/alpha/m/molecular-genetics/alps.htm

I do not know much more than I knew going into Aishlin's appointment either but we did do the genetic testing today. Her DR checked her spleen, liver and lymph nodes and all were good, not enlarged. We also did another CBC and it was higher than last month, 23,800. Her DR said he would be in contact with me as soon as he gets the genetic test results. He did say that it will probably take at least 2 weeks before we hear anything. We will go back for another appointment in 1 month, June 9th. At that appt we will do another CBC and more testing should the genetic test results show that she does not have ALPS. So I still have no clue if she really has ALPS but at least we did get the genetic test done.

I wish that you were able to get more accomplished today with Anthony's appointment. I hate the waiting game. I just wish there was a quicker way. Talk with you soon.

Denise

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We are still awaiting results from the genetic testing that was done 10 days ago. I hope to her from the DR soon. Not sure how long the results will take but hoping to hear something before our next appt in June.

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oh and I wanted to ask anyone that might know...my daughter's platelets were only 152,000 at our last blood test. i know that 150,000 is the minimum it should be. If hers continues to drop what will they do, will they try to treat her with something to prevent it from getting too low...at what point is it too low?? does it have to get under 100,00 before they will think it is too low? Are the platelets something that can fluctuate? What are the chances that we will go back for blood work in June and they will be much higher?

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Hi Denise, yes platelets do flucuate. My son had a platelet transfusion when his platelets were low. I cant remember how low they were. But his rbc was always the lowest. We go back in August for genetic testing. Please let me know when your daughter gets her results back. Until then hope you all keep well. Monica

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Monica,

I bet you cannot wait to get the genetic testing done on your son. I have already learned that none of this is a quick process. I thought that I would have gotten some results by now because it is coming up on 4 weeks since we did the genetic testing but not yet. I emailed Aishlin's Hematologist on Thursday asking him if he knew how much longer it was going to take. He contacted me today to tell me that he has not heard anything yet but he will call the lab on Tuesday and see if they can give him an estimate of when it will be completed. So I might have some answers by Tuesday or Wednesday. I will let you know what I find out.

Denise

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My son (2 years old) was diagnosed in Oct with ALPS and will be going back to NIH in August 2010. Any tips that I need to know about going back?

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