A hell of a journey - 7 years with ALPS (autoimmunelypmphoproliferative syndrome)

Hi!
 After 7 years of my son, living with Autoimmunelymphoproliferative syndrome or ALPS, I am tired of being alone, falling through cracks and not sure what is normal for my son given his VERY RARE condition. I am hoping you will share your experiences with me and maybe I will see that we are not so alone and maybe I will come to understand better where we are, what Bryn's normal is, what is real and what is not. Maybe you will find something here for yourself, TOO, in a journey with a youth with an AI condition or another limiting condition. The medical community, while providing a diagnosis after 5 years of searching,  has not been a big help in letting us know about what Bryn is or will facing daily. We fall through cracks all the time medically, in the schools, and HAVE NEVER MET ANYONE WTIH ALPS. So we don't know if he is more tired than "normal", what he will face as he gets older, can he hold a job if he is getting viruses all the time, if he runs out of energy and just needs to rest for awhile - he's ALREADY getting older - he's 17 next weekend!! He tells us he is more tired than his friends and that should be enough for us to know, but I want to know from others what their condition is like, what they feel, how has their experience been. I can't tell he is more tired because he keeps up with his friends and is even more sparky in his personality than they are. BUT he is just coming off 3 weeks sick and away from school - this is his grade 12 year, a really big year. He is often sick once virus season starts. .......And this is a long and complicated story.

When Bryn was 10 he had a long viral illness and was very tired. Eventually we went to the doctor and he found that Bryn's spleen palpated quite large. He sent us to a pediatrician immediately - she found Bryn's spleen even larger - right down into his groin - 21 cms. long! It is the size of a football - instead of a fist. The Pediatrician took some blood, pulled me aside, and said she suspected leukemia, and that the blood test would be done by late evening and we would hear from her by bedtime that night. He would be in Childrens' Hospital the next morning to begin treatment if he tested positive for leukemia.

 I WILL NEVER FORGET STANDING WITH MY YOUNG SON IN THE LAB WAITING FOR HIS TURN, PUTTING ON A BRAVE FACE (I thought), AND BRYN ASKING ME "WHAT'S WRONG MOMMY?" I TOLD HIM VERY BRIGHTLY THAT NOTHING WAS WRONG. AND HE ASKED"THEN WHY DO YOU LOOK LIKE THAT?"

Well, this was the beginning of a 5 year journey to figure out what was wrong and causing a massive spleen. Bryn tested negative for leukemia, thank god, and for 5 years he was followed at our local Childrens' Hospital, tested for everything under the sun - cancers, rare leukemias, liver disease, virus, rare viruses. When they weren't testing to figure it out, he was followed every second week wtih blood tests, x-rays, CT scans, etc. His platelets are low, his hemoglobin, neutrophils, and white blood cells, too. Blood levels went up and down as he caught illnesses but were always low. But other than being sick more often with viruses and having to give up any kind of sport that would threaten a rupture of his now vulnerable spleen (it was no longer protected by the rib cage and much more vulnerable to blows), and missing more school because of regular viral illnesses, he was quite normal. Certainly from outside no one could tell he had an illness of any kind.

Fast forward - 5  years of this. Our son has been seeming to do well outside the home, he is very bright, charming, lively, handsome and social, does well in school, but he is violent at home, volatile as hell, and we are dealing with constant abuse. He says the process of testing is not bothering him but but he HATES HIS SPLEEN AND HE WANTS TO BE NORMAL, sometimes he cries and says "I want to go home" but he cannot explain what he means by home (something we are to hear countless times) and  he is acting out at home constantly - holes in the wall, a broken window, a broken lamp,  things regularly thrown AND violence. We enter family therapy, and he does art therapy, Virginia Satir therapy, to try to deal with his emotions, to fix what we parents are doing wrong, but nothing really helps. When we ask to see a therapist at the hospital we are told "those are for the really sick kids." Well, not knowing what is wrong with you, being poked and prodded all the time and waiting for results of tests with NO BLOODY ANSWERS is a horrible kind of TORTURE unrecognized at our hospital or anywhere really. I don't think even my husband or I knew what we felt or how hard this was, which in retrospect seems crazy since our son was off the wall several times a day. We were alone with no other "sufferers"to bounce off of and no real understanding from the medical community. We received no help the medical system and continued paying large sums of our own money, desperately trying to help our son and ourselves. Meanwhile the neighbors thought we were abusing our son and called Children and Family Services.  This govt. agency came and did a home visit (I can't tell you how rude I was to her when she called!! I was shocked that they wanted to come to our house). They spoke with me, with our son, with my husband on separate days, and gave us a clean and even admiring bill of health for attempting to deal with our problems. No we are not perfect, yes, we have problems and are having a difficult time, but we are dealing with a very difficult situation with all the therapists for our son and ourselves that we can muster (she said, unlike many people who don't deal with their problems at all). I still can't understand how a neighbor could have done that to us - though I do know it was very loud and horrible sounding from inside our home. I was nauseous for 2 weeks after each visit of this very kind govt. worker, terrified they would take our son.

Well, 5 years after the first leukemia test our hematologist calls and says she thinks she knows what he has. She wants to do some blood tests and send Bryn to the National Institute of Health, NIH, in Bethesda, Maryland where they have a study on ALPS. The NIH will pay for Bryns' and a parent's plane fare and we can stay for free in the Chidlrens' INN on the campus of the NIH. Our doc eagerly and with our thanks, pulls together a lot of reports, data, files, tests and bloods, to send to the NIH and off we go.

Bryn and I went without his Dad which seemed a big deal at the time. Bryn had 18 viles of blood taken and  genetic testing with his genes read, and after a month wait we have a diagnosis - he has ALPS. He has had a genetic mutation on a single cell in his immune system - the double-negative T-cell. We have a page showing how the gene is written correctly for awhile and then the spelling on it goes haywire - ON ONE BLOODY CELL - and it has changed his life. His body no longer recognizes that cell or gets rid of it when it is no longer needed after an illness - it lodges in his spleen, creating this massive spleen. There are approx. 200 known cases of ALPS in the world. 190 of those are inherited from parents with ALPS who have not been diagnosed or have remained asymptomatic. There are only 10 like my son, who have had a spontaneous mutation during his growth in the womb, in MY womb. Is this my fault? I don't often think that but as I write I wonder if I think it more than I know.... more later on that....

So now my son is, as he says himself, 1/700,000,000 in the world. I am just happy he is going to live, not have a degenerating illness. But Bryn is still mad and upset, he wants to be like everyone else and he hates his spleen. His is a mild case, the most mild case of the NIH ALPS team - lucky right? Some kids are very very ill. He's lucky right? Not to Bryn. He wants to be "normal", he hates his spleen and the volatility continues - only now he is 15 and bigger and it is really tough.

I'm going to leave it there for today. It's a long story. Bryn is doing therapy again the last few months and the volatility has stopped - he is finally old enough to begin to deal with the trauma of what he has been through. I'll tell more about that another day. I am afraid for his future, of the unknown, for his schooling, which is going much better this year because he is feeling better, of what he will do, what can he do, after Gr. 12 with his gifts especially a passion for cinematography and film editing. I don't know whether anyone will comment or be interested or share their story. I hope so. I don't want to be alone with this any more. I don't want to keep the secret of our family difficulties that have arisen from this anymore. ALPS is rare, it is invisible in Bryn's case, we are tired of being in the cracks in the medical system, of trying to figure this out alone with no one to bounce off, no landmarks in sight, making all new landmarks and not even knowing sometimes whether we are in the right place or any place, and of no one else knowing or understanding. I would like to compare stories, to see how and what others are doing, parents of youth, youth themselves, people who were youth once in similar situations.To know we are not so bloody different and alone. Maybe we can help each other figure out the unknowns. Maybe we can support each other. Please share your story with me. From here on I am going to post mostly daily - thought, worries, situations, wonderings as they arise. Bryn is on the cusp of the rest of his life and there are so many questions, so much to think about and not very many answers. Maybe we can share answers or hammier them out together. If nothing else, maybe we can listen to each other.


From my heart to yours,
Cathy