In order to properly discuss or write about some of the more complicated aspects of this disease, I feel I need to try and post as simple an explanation of it as possible. It’s not as simple as I would like because it’s such a complicated set of problems, but I’ve tried to include the basic facts everyone interested should know.
Overview:
- HLH is a rare disorder of the immune system. It is also commonly referred to as a disease. It’s rarity is currently understood to be
approximately 1 in 1 million childrenas many as one in 50,000 children, with recent studies suggesting it is even more common than previously believed. - There are two forms of the disease. The primary form is FHL, also known as Familial HLH. The secondary form is simply known as HLH. Both forms are treated in the same manner medically, with the exception of the additional need for a Bone Marrow or Stem Cell transplant to cure the primary form.
Description:
- When the body has an infection, certain specialized cells activate and fight off the infection. These cells are part of our Immune System. Among these cells are T-Cells and Histiocytes, which when activated cause an inflammatory reaction in the body.
- In most people when an infection(a cold, flu, other virus or a bacterial infection for example) has been eliminated, the inflammatory reaction that helps eliminate them is turned off and the Immune System returns to it’s “Steady State” or normal state. In HLH patients, the inflammatory reaction does not turn off and causes the symptoms of HLH.
- Our Bone Marrow produces our blood cells, including infection fighting cells. As the inflammation persists abnormally, the Histiocyte cells attack or “eat” the other blood cells in the bone marrow, causing a severe drop in cell counts. This means that the patient is exposed to normal infections, but has no way to fight those infections off.
- Typical symptoms of HLH itself can include: Fever, Pallor, Jaundice, Liver and Spleen enlargement, and Neurological symptoms such as irritability and seizures. Not all symptoms appear in all patients initially.
- Because symptoms vary widely and can be associated with other infections, HLH is very difficult to diagnose. It is an especially dangerous disease undiagnosed, with a fatality rate of 100% over a course of approximately 2 months. 100% of patients will die in 2 months if untreated.
- Patients have a better chance of survival of this disease the earlier they are diagnosed and treated. The longer the disease continues, the more damage the body does to itself. Because the treatment itself is hard on the body and the disease often affects young children, if the body is too badly damaged, recovery can be difficult even when treated properly.
Treatment:
- HLH is currently treated with a protocol or treatment program called HLH-2004. This program was created by an international team of doctors in 2004 to attempt to address the poor survival rates of patients with HLH. Prior to that point, a program known as HLH-94 was used.
- HLH-2004 involves a chemotherapy regimen (a set medicines given to the patient) to stop or suppress the inflammation in the body, bringing the disease under control.
- Once the disease is under control — once the immune system has “cooled off” — symptoms can begin to fade and the patient’s immediate danger from HLH itself is lessened. The patient is still at very high risk from normal infections due to the damaged immune system.
- Infection presents the greatest risk to patients with HLH after it has been diagnosed and treated.
- In the primary form of HLH, known as FHL, remission is only temporary. A Bone Marrow or Stem Cell transplantation is required for long term survival.
- In the secondary form of HLH, the disease can be permanently resolved with the HLH-2004 program in some cases.
The question many parents want an answer to most, “what are our chances”, is very hard to answer. I know I spent a lot of time trying.
That answer is there is no easy answer. It depends strongly on how early diagnosis and treatment took place and what underlying conditions are present. In short: your doctor should be the one to even try to answer that because it really is dependent on the unique situation of each child.
More information is available at Histiocyte.org as a starting point. I’ve posted articles I’ve found to be useful in the Links section above as well.
HLH Journal 
Well done, as usual, Evan. I think of Zoe as one in a million in all ways, and I have continuing optimism that she will get through these rigorous treatments and a BMT [if needed] with as few complications as possible, and thrive and develop beautifully all along the way.
It is impossible to figure out the answer to the question of why did this happen to her. But it did, and you, Michelle and your families are managing it all with great love, brains, careful attention, and advocacy.
Mara
Thanks!
I’m putting up a few informational posts both for those interested, and for those finding this site via searches. Some of this information is scattered about and hard to find or hidden behind for-pay medical journal websites, so I’m trying to collect as much clear info as I can here.
Will return to Zoe pictures and more personal info soon! 🙂
Pingback: FHL, or, Familial HLH : HLH Journal
This really helps us to somewhat understand this confusing disease, Thank You. We are following the progress closely and appreciate the updates. We are certainly praying for a successful and permanent treatment outcome. John
Kia,was initally diagnosed the middle of June2010. she was in remission for about 6weeks.She needs a bone marrow transplant,the doctors say it us not the familal type of HLH.She is 5years old. Praying her sister(who is younger) is a match or her parents
Aimee my little sister was diagnosed with HLH the secondary type, she didnt make it the chemotherapy damaged her heart but atleast i know now what type of disease hurt my little sister and to be aware of this horrible disease. Thank you so much for youre information…………..
Thanks for the info My daughter is 36 and was diagnosed with HLH three weeks ago and she is at MD Anderson hospital in Houston. They started he on chemo yesterday and she has a long road to recover. So this disease notonly effects children but can effect adults as well. We don’t know what type she has but the doctors are doing all they can. God bless all of you.
My husband 34 was diagnosed 7 weeks ago. We have two small children and are desprate to talk with others about this strange and confusing disease. I can be reached at jennifer.symon@live.ca
Jennifer
Edmonton, Alberta, Canada
I have a dear sister in the Lord that is 20 years old and has been battling this disease since the age of 16. She has recently had a tramatic episode over the weekend, which caused her to deliver her son 8 weeks early. She is currently under going Chemo in the hospital. We are currently expecting God to do a miracle in her life.
As i’m reading your story, i see our story as well.
I hope your outcome was better than ours. Praying!
My heart goes out to you and your family. We are all so baffled by this devastating disease that hits without warning. You are in my prayers.
Apparently I too lost an old friend to this, at 49 years of age, within 6 weeks of onset. Sadly he left behind a young family as well… Prayers for anyone dealing with this…
This sounds like my husband, as he was just 49 years young when he succommened to this and left behind two beautiful young daughters. I send out my love and prayers to anyone dealing with this disease. God bless!
We lost our only son at age 48 to this beastly disease. We miss him terribly as do his sisters and nieces and nephews and friends….So very sorry for your loss….Just found this website. God Bless you and your daughters. Our son is our guardian angel now and I will ask him to send comfort and healing to you all.
Peggy T
I lost my sister to this horrible disease. We live in Statesville, North Carolina, and needless to say there is not a doctor that could make the right diagnosis in a small town. She had to be airlifted to a hospital in Charlotte, and still was not diagnosed in time to save her life. Anyone going through this has all the prayers that I can send.
i just found out my sister has it . she is in a coma. i dont know what to ask but plz tell me what u know
So sorry to here you story, my girlfriends grandson is now afflicted with this dreadful disease and is now at Duke Hospital. Luckily, the have diagnosed his condition before it was too late. The last word I got was that they are looking at a bone marrow transplant. He is only 8 years old. Getting the proper diagnosis is critical as time is of the essences, thank God we where close to Duke Hospital.
My prayers go out to you and your family.
Sincerely,
Anthony T.
Garner NC
My 16 year old son was diagnosed with primary HLH in September 2010, he had underlying immune deficiancy which was diagnosed when when he was three. The foresight of his consultant at Great Ormond Street Children’s hospital led to early detection and to him having a stem cell transplant in December 2010, he is now nine months post transplant and doing well. It is a long and scary road, but we are now seeing light at the end of the tunnel. It will be another five years of hospital visits before we can be really sure that everything is ok, we still consider ourselves to be very lucky. For those of you going through this process we send you our prayers to keep you strong, for those families that have lost a loved one to this horrible disease we pray that you will find comfort in knowing that as more is learnt about HLH there is less chance of others suffering as you have. Thank you for this detailed account which will be very useful for our familiea and friends to help them understand the complex nature of the disease,
My Mum was finally diagnosed with HLH, initially she had chemo treatment for malignant histiocytosis which put her into remission for 6 weeks.Then symptoms returned and another bone marrow test led her to the diagnosis of HLH.I truly believe if she could have been diagnosed and treated for HLH initially she may have survived as she battled with it for a year.I pray and hope her efforts were not in vain & that earlier detection and better treatment is available soon. I think Mums longevity with the disease was also dependeant on naturopathy immune support supplements and of course in conjunction with excellent Medical Treatment.I pray every day for HLH sufferers- keep the faith, Emma
John Michael is 18 years old and has been diagnosed with HLH on July 2011. On October 23, 2011 from 8 am to noon and from 5pm to 9pm at Prince of Peace 12800 NW 6 Street, Miami Florida it will be a Bone Marrow testing drive. If you know someone in the Miami area please passes this information to them.
My little cousin ( aged 6 months) in Canada is fighting hard right now against this disease and now needs a bone marrow transplant having had Chemo. She has such an amazing family and friends but its so hard for everyone especiallly at Christmas time. Please send your thoughts to her and her mum and dad.
Thank you for the description of this complicated disease. My brother was diagnosed in August, 2011, with secondary HLH. At the beginning of December he was also diagnosed with diffuse large B cell lymphoma, a common progression of the disease. I lost my brother to this horrible disease at the end of December, 2011, and he was 28 years old. He fought a really hard battle for four months. My thoughts and prayers go out to all of the families that are currently fighting the same battle. I only hope more information can be found to be able to better understand and treat this disease. My thoughts are with everyone. ~ Kelly
We just got the preliminary diagnosis and are preparing for the bone marrow transplant.
Our grandson was in the hospital with the swollen liver and fever 105.4.
The doctor in Cincinatti is studying the blood taken from the family and has initially found the mutation.
It all started with a diagnosis of epstine barr (mono).
He is healthy now and she wants to do the treatment now.
It is not a case of if he gets sick again it is a matter of when.
Thank you for the valuable information.
The other children are being tested.
Jean
My 3 year old great-niece was diagnosed in May 2012. She has the genetic form and is currently doing chemo. I’m so sad and uncertain why this is happening but I will put my faith forward and pray for the best. I must say after reading the posts I’m more aware of the true harshness of this disease. I really believe in miracles but this is one I can’t believe. I’m so sad for my niece and her husband. I pray we find a way to make this more common knowledge so the fatality rate will decrease. I had dinner with a medical physician friend last night and she hadn’t even heard of it. Awareness is key! Prayers out to all that have or will come across this. Blessings.
My 34 year old husband has been diagnosed with HLH we would very much like to connect with others and share stories.
Please email me at jennifer.symon@live.ca
Jennifer
Edmonton, Alberta, Canada
Hi all HLH/FHL warrior mom and dads,
Sorry to hear about your battles…My heart goes out to you all.
My son was diagnosed at the age of 5months old with FHL. We went into remission at the age of 2 yrs without a transplant (donor had an accident). He stayed in remission for 16yrs, living a healthy normal life….THEN after 16yrs relapsed with HLH also having CNS problems with it.
We finally after searching for a year have a bone marrow donor. We are scheduled for October!!
I agree this is a horrible diease and mimmicks other dieases….then it is too late by the time they finally diagnose properly.
Together we can make a difference for other families.
My 6yr old might have this, well it was one of the possibilities. The dr said he more than likely does NOT have it because he didn’t have 3 of the symptoms (enlarged liver and spleen, and a rash). My biggest worry would be my curiosity because at one point he had an enlarged liver and spleen, my son got tested for mono but that came back negative but the dr said it was probably a false positive and treated the “mono”. Nine months later he was hospitalized because his hemoglobin levels were extremely low and needed a blood transfusion. He was released from the hospital after a week but we still have follow-ups to make sure hemoglobin is on track. After a month of being home he now has a rash all over his body. So, is it possible for him to have HLH if he has had all of the symptoms but not at once? Please help.
Email me at:
nicholabolla@yahoo.com
Hi Nicole, sorry for the late response.
Did you get answers to your son’s illness? If so, I hope it wasn’t HLH.
When my son was first ill as a baby, he had fevers, seemed to be in alot of discomfort at night when he was sleeping. He would toss and turn when he was on his belly.(his belly was extended from the liver and spleen). He didn’t have a rash. His blood (Hemoglobin) was very low. We had him at several dr and then finally Sick Kids admitted him one night because he was in bad shape. He had an enlarged liver, spleen and bad case of phenomia in both lungs.
Trust your gut and don’t give up. A mother knows her child. Keep taking him to the dr..be persistant….!!
Everybody kept telling me I was being paranoid because I was a first time mother and I just knew something was wrong and didn’t give up.
Good luck and keep me posted.
Tammy
hi, my sister’s one n half month son is detected with this terrible disease. we were not even aware of this before this young child suffered from it and is battling with the disease since almost more than a month. all possible treatment is being provided. yet to detect whether familial or HLH. in fact, drs werent even aware that it could have existed in such young child. we need blessings from all those who have known about HLH and would like to learn more. your support will be highly appreciated. god give my sis n bro in law all the energy to face the child’s suffering.
My best friends baby was diagnosed with this disease in June 2012 when he was just barely 4 months old. Thankfully the doctor diagnosed him quickly with HLH. He was flown to Cincinnati Ohio to begin treatment because VT doesnt know enough about the disease. Thankfully on in August they found a match for a BMT and on August 31, 2012 he was given a BMT. The past 2 weeks he has been doing fairly well after the transplant. I never even heard of this disease before but I am thankful we had some intelligent doctors on our side to diagnose him quickly and get him help ASAP. Im very thankful that he is young and wont remember the HORRIBLE struggle he has gone through in the past few months (even though I know his mom & dad, family & family friends will) Grateful for having wonderful doctors by his side and a team of experts doing everything they can to create treatements for this disease!!!
My thoughts go out to all the HLH patients in the world and to the families helping them fight this disease!
My girlfriend was diagnosed 6 months ago, and I never really got a lot of solid information about the disease, so thank you for this page it helped a lot! She had chemo for a few months with good results, but her blood counts started getting too low again for them to continue treatment. I think they’re talking about a BMT now, but I know it can take a while to find a match 😦 We’re both 20 and I wish she could be enjoying this time of her life instead of always being in the hospital.
I am so sorry for your loss (for everyone who has lost a loved one to this horrible disease). I lost my husband last year on April 20, 2011 and I miss him still. God bless you all and may they find more answers to help heal those inflicted with this disease. God bless.
Joni, so sorry for your loss. My 80 year old father, the model of healthy living, died 15 days before your husband’s death, in Vanderbilt Hospital of HLH, six weeks after the first symptoms appeared. A lot of time was wasted in a smaller regional hospital where doctors were unable to come up with an accurate diagnosis. His medical team at Vanderbilt finally solved the mystery in the week prior to his death and I can’t come up with enough praise words to describe how wonderful they were to my dad and family during that ordeal. My father had a full life and though it was hard to see his suffering, he had a good death surrounded by family. It is so sad to think that this disease often afflicts children and younger people, but it’s comforting to know that there are places like Vanderbilt Hospital working on ways to treat it.
My oldest nephew just lost his youngest son to HLH. All of my medical interests had not lead me to this disease. I do not know of any family members on his dads side (my brother). This child was just six days into his second birthday. I was surprised when my nephew told me
that both he and the mother carried
the gene for this. I am still
researching their history. If they both carry, would it come from their mothers side of the family? Their next child together also has it. She turned 3 in July 2012. It appears that her baby brother saved her life. Both children had BMTs. I guess she was stronger. It is a very sad happening. Loma Linda Hospital- just twenty minutes away from Moreno Valley, was not equipped to handle these cases. The children had to be driven to UCLA whenever they had fevers. Precious time was lost in travel. I will do what I can to write a grant for further study and assistance…
Thanks for the simple explanation. It has really helped…
I am so happy I found this site but it has made me very scared. My daughter who is almost 7 has had recurrent fevers since a very early age. First time she was hospitalized was at 2.5 months. We had a battle for almost 3 years to figure out what was wrong. At 2.5 months her ferritin was high and hemoglobin was low. Too much info to tell you but when she was just over 2 she had a severe bout of fevers and was diagnosed with HLH but they never figured out the cause. Shortly after that she was diagnosed with a Periodic Fever Syndrome and started on colchicine. It changed our lives but now she has been hospitalized again with HLH so more testing is being done. she has been here for a week and they are ready to discharge her as we wait for further genetic testing. Not once has anyone given me an indication this could be life threatening yet everything on the Internet says that. It is very scary! She has done so well for 4 years and now this. I hope we get to the bottom of it. She has been through so much already!
I am so happy I found this site but it has made me very scared. My daughter who is almost 7 has had recurrent fevers since a very early age. First time she was hospitalized was at 2.5 months. We had a battle for almost 3 years to figure out what was wrong. At 2.5 months her ferritin was high and hemoglobin was low. Too much info to tell you but when she was just over 2 she had a severe bout of fevers and was diagnosed with HLH but they never figured out the cause. Shortly after that she was diagnosed with a Periodic Fever Syndrome and started on colchicine. It changed our lives but now she has been hospitalized again with HLH so more testing is being done. she has been here for a week and they are ready to discharge her as we wait for further genetic testing. Not once has anyone given me an indication this could be life threatening yet everything on the Internet says that. It is very scary! She has done so well for 4 years and now this. I hope we get to the bottom of it. She has been through so much already!
My hearts go out to all of you. My 24 year ld brother contracted HLH from an EBV infection November 28th 2012. By the time they diagnosed him it was too late. H was at columbia presbeteryan in NY. They diagnosed it within 24 hours and bybb the time they could start treatment his organs were going into failure. He tragiclly passed away monday December 2nd 2012.
thanx for the information, my daughter, almost 2 years old were infect with
this rare disease. almost 3 weeks in hospital, already done with bone marrow but her platelet
still below 20, tonight they will give her a chemotheraphy session at 8.oo, oh lord! please help
me and keep my daughter alive… i beg for ur forgiveness oo lord.. Aameenn..
thanx for the information, my daughter, almost 2 years old were infect with
this rare disease. almost 3 weeks in hospital, already done with bone marrow but her platelet
still below 20, tonight they will give her a chemotheraphy session at 8.oo, oh lord! please help
me and keep my daughter alive… i beg for ur forgiveness oo lord.. Aameenn..
hi I was diagnosed with hlh a few months ago. after 2 months of chemo & LOTS of medicine , I’m in remission.(: I have the secondary type, hopefully ill stay hlh free .(: I am SO thankful bc at one point almost all my organs were shutting down . & now here I am, ready to go back to school in a few weeks ! I’m also here & will answer any questions .. Kennedy.myers@rocketmail.com
Hi can you email me any details you have jennhopkins84@gmail.com Thanks
I met a gentleman last night, in my work place, who’s family lives in Derby, Ks. He spoke to me in great depth of the loss of his 5 year old daughter recently from HLH. I have previously felt that I was fairly well versed in diseases of the body, as my spouse has dealt with severe Lupus for 15 years, but this was something I had no knowledge of and was profoundly moved by his story. I have children and grandchildren and will from this point to everything in my power to heighten the awareness of this disease and my prayer is that the medical field will do more to find an earlier diagnosis for HLH and curtail the anquish of so many.
My heart breaks reading your story. Thank you for sharing because every piece of information is so valuable. My friend’s baby was ill before she was 2 weeks old and diagnosed at 3 1/2 weeks old with HLH. I think they should have spelled it HELL. Thanks again for sharing and I pray God comforts you! and i pray for total healing for baby Elyse Hope.
hi my daughter is 5 years and 11 months old ,17 of januery 2013 she was diagnose with HLH
she current in RED CROSS hospital,her name is Shakeelah Swartz,she on steriods at the moment,she also not eating and cannot walk .
Just spent an hour or so reading these comments and my heart breaks for those who have lost a loved one to this horrible disease and my heart is warmed by those good outcomes. My husband (now 42 y/o) is a survivor of HLH. He was diagnosed 2/4/12 after 15 days of unexplained fever. We are fortunate enough to live close to Cincinnati, University Hospital, AND Cincinnati Children’s hospital. He was diagnosed within 36 hours of being admitted. There have been many ups and downs but he was lucky enough to survive. There was even talk of BMT. He had so many complications some of which was due to the treatment and all the meds he was taking.
He was almost back to normal (even getting ready to start playing soccer again) and he got his first fever last week since remission. Long story short…he just met with his hem/onc doc and he is perfect…turns out it truly was JUST fighting an infections (successfully!). Amen! Very scary…but he passed his first test of his immune system and almost rid of his hem/onc checkups!
Hang in there to anyone dealing with this. It’s truly horrible and we know we are lucky and blessed…we do NOT take it for granted!
Turns out he has acquired HLH but not 100% sure of the trigger. He has Crohn’s disease also and had just started Humira 1 week prior to the beginnning of the fever. No one will say for certain but in my heart I think that was the trigger. We may never know.
Prayers are with you all…every single day. There is hope and advancements in treatment made every day!
God Bless!
Traci
It actually brings me to tears reading all of these comments and anyone who has lost a loved one or is dealing with this disease now – my heart goes out to you.
I was diagnosed with HLH in April 2005. I was 19, and they were half an hour from pulling the plug on my life support because they had no idea what to do or what was wrong with me. At that time I’d been in the hospital since the beginning of March, put into a coma and on life support halfway through that month. Originally diagnosed with Leukemia and finding out after numerous bone marrow taps that I was not carrying a cancer virus – my doctors in Toronto were at a complete loss. Both my kidneys and my liver had shut down, I was jaundice, completely immobile as my body dwindled to nothing and no answers.
My family was torn apart, and still to this day at 27 years old, the entire ordeal is incredibly surreal and still heartbreaking sometimes for me to think about.
My HLH came from contracting Mono when I was in college in September 2004, which went untreated until March when I fell very ill. I had been checked 3 times for Mono at the college doctor with apparently no findings of the illness and then in March when I spent a week in my bed with a fever over and above normal levels, hot and cold chills and everything in between, my mom took me to the hospital where I was diagnosed with Bronchitis, sent home on Tylenol, and begging my mom to take me back 3 days later where they found my blood count to almost nothing and being tentatively diagnosed with Leukemia as I mentioned.
This disease was horrendous. Even after finding, within the last moments of my life, what was wrong – I spent from March 5th, 2005 until July 22, 2005 in the hospital. Learning to walk again after my muscles disintegrated, waiting for my kidneys to funtion again when the doctors told me they never would, losing all of my hair to chemotherapy – I could go on and on.
I held on, and I’m so thankful for the people that stood around me, and made themselves known. The sacrifices.
All of you that have loved ones suffering – you are their strength, your smile will pull them through, and all of you that unfortunately lost that loved one – you still were the one thing that pulled them through. This is a quick and debilitating disease. I hope my symptom description may help others and I pray every day that there will be more findings on this illness.
My heart, once again, goes out to all of you. Stay strong and be the rock. You are all amazing people.
I’m also here for any questions or even to just chat.
kristi.higgins17@hotmail.com
I felt happy as you’re survived.I have lost my most precious 15 years son on 9th march 2014 with this dreadful disease.he got fever on 1st January nasal bleeding on 2nd after blood tests came to know that platelets and hb low.wbc high.bonemarow was done and no cancer only lukaemic reaction.on 12th jan was taken to vellore where hewas diagnoised with hlh and treatment was started.like to know is it early prediction or not.he got high fever on 7th december 2013 and came to normal the next day.that disease enterd in to his body then?he was a healthy boy
This made me cry…
Our story of my loved one is so similar to yours but he didn’t make it out alive.
It kills me everyday knowing that his treatment was on a ticking time bomb, racing the clock against this monster of a disease.
I was by his side before the day he passed, he was tring so hard to open his eyes for me and that memory is what i have to live with forever. I was completely unable to save him or help him in any way. But i pray to GOD that he knows how much i loved him.
My heart & prayers are with every HLH family out there. My youngest & only 18 year old sister was diagnosed last April 2012, with EBV-HLH. It was hell on earth and still has been a very difficult road. She had a BMT on Sept 13th. she is currently 6 months post BMT. I strongly encourage all HLH families to find the HLH family (survivors & angels) facebook family, it is a huge community of HLH families, support, etc. Please get your loved one to a facility familiar with HLH, and do not delay this, time is of the essence with this horrific nightmare disease. Please visit my sister’s web page for links, & her story, You are not alone……
Anyone wanting to talk , connect or needs help with resource please email me. I never want families to go through what we did . Most Doctors have no idea what HLH is & not all hospitals are even familiar with how to treat this disease. Some resources…. hlhsupport.org
izzyshlhjourney.org,
facebook: (survivors & angels) HLH family
Cincinnati childrens hospital, Dr. Filipovich (HLH expert)
Texas childrens hospital Dr. Mcclain & his team (HLH & histiocyte experts)
Our beautiful daughter( 39 )was diagnosed with HLH beginning Jan.2011, went through chemo, did pretty well for 2 weeks. Then the “monster” came back with a vengeance. On March 22, she closed her eyes forever,
leaving behind 6 beautiful children and a heartbroken husband. Her HLH was probable caused by the Epstein Virus. She was diagnosed right after her mild fever started, got the best care, and died anyhow. The problem is that the Doctors don’t no more than what we know. They still follow the 2004 protocol. It is a most horrible disease that came out of nowhere and destroyed our lives. God blessings to everyone that lost a loved one or is still fighting for their lives, especially the sweet little children.
My son bangji was diagnosed with this horrible disease in his 2 months old on 1 Feb 2013. He got much better after 8 weeks of initial chemo treatment under 2004-hlh protocol. We did the evb test with negative.the drs told us that bmt could be done only if flh has been confirmed. However, the hospital cant do the genetic test for us. Could anyone tell me if there are any reliable labs to do the genetic test with hlh? My email:helenrealm@gmail.com
Hi Helen,
The lab that we used for our daughter, Zoe, was the Cincinnati Children’s Hospital immunodeficiency lab. I don’t know if they are able to do tests for patients internationally, but I would encourage you to contact them for guidance. If they cannot do your testing they might be able to point you to a lab that can help.
http://www.cincinnatichildrens.org/service/d/dchi/tests/
Evan
Hi,
I am 24 years old and recentley been diagnosed with HLH, It started as a fever then things got rappidly worse, I had my spleen removed as it was about to rupture and that seemed to cure it, within a few days I was out of hospital. I am back at work and trying to live a normal life again.
My doctor has told me that if this does not come back within the next 10years then he can class it as gone so I guess its a waiting game.]
I have been getting ill alot since loosing my spleen but am so fortunate that HLH has not come back!
I thank god everyday for giving me another chance in life and my prayers go out to all of you who have lost loved ones.
My dream is to be here for my baby girl who is 18months and that will keep me fighting forever.
for everyone dealing with this know you are not alone, you can make it through this, just keep fighting!!
Dear Evan,
Thanks a lot for the link. It was very useful. I’ve forwarded the reply from the lab to my doc who was originally planning to stop the treatment. I strongly opposed it for too risky. After consideration, I decided to let our son receive the continuing treatment until the result of the genetic testing comes out. Although the genetic testing is expensive, I would like to have it started ASAP. Two weeks now, I am still waiting for the doc’s further advice and action. I am so anxious and have no idea what I can do with this. I can only have chance to see the doc once for two weeks. Now I am staying with my son at the hostel near the hospital in case of emergency and for the convenience of regular appointment, dare not going home, wondering when these days will end.
Helen, the road may be a very long one. Pray a lot and appreciate every moment you have with your son. Trust your motherly instinct, it will guide you. My prayers are for you.
It is amazing how many people are now effected by H.L.H. I think it has always been here, just could not detect it properly. It is rare and acts like so many other diseases. We, who have been effected, should come together and find other options to cure this terrible disease. Chemo and a bone marrow transplant are not as dependent as they say. Studies show that most people who suffer from H.L.H. will still pass away years later. All the fighting, all the pain, and it may still come back. What a sad thought for those who are facing H.L.H. today and I pray everyday for your wisdom and strength. It is a very aggressive disease that has no mercy on anyone it touches. I lost my daughter eight years ago. She was ten, her name was Makayla. She lived for almost seven months before she passed. The fighting of the H.L.H. was hard and defeating for us. It seemed everyday something new would happen to her. Her eye site would go, her lungs would fail, her CNS was being destroyed, and she always needed blood. The list goes on and on. The scary thing is you do not know what damage is being done because of the H.L.H. or because of all the medicine they are pumping into the body. They said Makayla had rheumatic fever at first, they were so wrong. I gave my baby sixty-five thousand milligrams of aspirin. Be careful, because your instincts are always right! My daughter was in such a critical condition after the aspirin, she was dying twice as fast. It was a downward spiral for her, and she suffered greatly. I would also suggest to anyone facing this, to never agree to a bone marrow transplant, unless it is a one hundred percent match. The body will almost always reject the marrow and the child or adult will be in severe pain. Not just regular pain, pain beyond belief. I am so sorry to anyone facing this disease or who have already lost a loved one from H.L.H. Losing a loved one is heart breaking, but losing a child is soul tearing. Your soul just continues to long for them, for the rest of your life. I pray for all of you and may God bless you with healing.
I have written a book about the things Makayla went through, and it will be published soon. If anyone would like a copy just let me know. You can reach me at brandyflare72@gmail.com
My heart and prayers go out to anyone who comes face to face with H.L.H.
My heart goes out to all families experiencing the fear and confusion of HLH. My daughter was diagnosed with secondary HLH along with Systemic Juvenile Arthritis in September 2008. She was only 6. Preceding her diagnosis she was diagnosed with mono 4 months prior but was already getting over it to treat. She started 1st grade and one day she became ill and took her to pedi dr, only to be told she had viral illness and it had to run its course. Well, after 6 or 7 days she was becoming more lethargic and I took her to hospital when I noticed the whites of her eyes were yellow. We were in the hospital 3 weeks before a diagnosis and treatment began. We almost lost her! It was the worst time in my life. She was treated with Kineret (anakinra) injections, cyclosporine, prednisone and methotrexate at San Antonio Childrens Hospital. She had the rash, spiking fever, enlarged organs with fluid accumulation around them. She had leukopenia , thrombocytopenia, anemic, neutropenia ….she had it all. When she started the itching all over her body; it was unbearable to watch until medicine started working to relieve that symptom. Once I found out how often she could have that medicine; I was calling and bugging nurse until she got there every 5 minutes!
My daughter is 10 y.o. now and healthy as can be. You would never know she had been sick. She was treated by her pediatric rheumatologist. In 4 short days after treatment began it was like looking at a different child completely. I just remember my daughter asking to go to play room… I couldn’t get her there fast enough. She does her yearly bloodwork. It looks great!
The only thing I can say is advocate for your child. Make your Dr write things down for you that are important for treatment and follow up care. The kind of stress emotionally and physically, you are under is too much to make sense of things right there. Do not be afraid to ask LOTS of questions. Who cares if the Dr or nurse repeats themselves. Dont wait on labs either. Once I knew how long it would take to get results; I called them! I also got copys of labs at every follow up. Get a support system in place.
Because of my daughter, I had a career change. I just finished nursing school about to test for my boards.
My heart understands. I remember the struggle and challenge of giving my daughter shots every day for 16 months. The crying of your child or loved one is difficult. Stay strong and committed to your treatment plan. Sometimes the hardest thing will be following through. I remember just wanting to give my girl a break; no meds, no shots. Stay strong, finish treatment. God bless all of you… I will be praying for all of you.
Hi Grace,
Our story is exactly the same as yours. Jan 2006 our 5 year old at the time just started to complain that she “broke” her leg. Those pains got worse and we took her to the Drs. They did the right thing by doing nothing-thinking it was a virus. We were back a week later and saw our reg Ped who sent us for bloodwork. an hour later she told me to take her to the ER. All the same things as your daughter-the water buildup/rashes/lethargic. It took a few weeks in the PICU and returning home then back to the PICU to determine the dual diagnosis. HLH had no information back then. We are in Cleveland and laugh if you want, but the healthcare is better here than almost anywhere else. We were also just a few days away from from death. Her chemo was e-topicide. Needles to say, she came thru and is now almost 13. we still see the rhumatologist 2 a year. She has no signs of what happened except for where her PIC line was. I carry the emotional scars still…
my little sister is 15 years old and she is battling HLH along with her current life struggle of not having a speen as well as having uncommon variable auto immune defitientcy dissorder. Although it kills me to find out that she most likely will die due to the brain damage caused by the HLH in her bloodstream. I have found some salvation in the fact that there is still some help because the doctors found it early.
My husbands situation is even more rare apparently, he is 52 and the doctors have said at his age, this should not have happened. It took 2 weeks for doctors to finally figure it all out and chemo and steroids and antibiotics are starting today. Thank you for all the information posted, I’ve learned alot.
I was diagnosed with HLH a little over 1 year ago at the age of 24. Went through chemo and steroid treatments and then months later a Bone Marrow Transplant. That was in October. I then found out that the steroids caused Osteonecrosis(bone death in the Femoral Head-leading to collapse) in both of my hips. I’ve had one hip replaced already and will have the other replaced in 6-8 weeks.
PLEASE feel free to email me with any questions. ( ksgillen@gmail.com)
Ive been treated by the best at USC Keck Medical Center in LA. I’m pretty knowledgable now and would love to help anyone that i can!
God bless!
My brother-in-law was finally diagnosed with this disease after suffering for 2 months. Being tossed between hospitals with the impression he had cancer then told sarcoidosis – back to cancer – back to sarcoidosis…again, all this for 2 months. One night, which would have been his last, my mother-in-law decided to take him to a completely different hospital. His heart rate was incredibly high. The doctors immediately took him for every test they could think of, still under the impression it was sarcoidosis. After testing his marrow, they discovered this rarity of HLH. He was finally diagnosed in April 2013 and only received 2 treatments due to high fevers and infections. He continues to fight and believe there can be something done to fix this. He’s 42 with 3 children.
So, with that said, my husband and I have decided to create a charity for research. It took 1 doctor to contact different states for help in figuring this out. They’ve brought these doctors in from different states to create the perfect ‘mix’ of chemo. Having never heard of this disease prior to him, and learning the statistics that come with this, we feel something needs to be done. I will be hosting the event in October 2014 and giving to hospitals to reach out and learn more about signs and treatment for HLH so that we can lower these statistics. Continued prayers to all those both past and present dealing with this disease and those who have been affected.
I would like to know more about the status if the charitable activity if possible. My son, 35, was diagnosed last week. Thank you.
Hi Peggy,
Your best place to start if you’re considering getting involved with HLH charity is probably https://histio.org/. From there you should be able to find more information about the types of organizations at work raising awareness and funding research.
Best,
Evan
Hi Lacey, I have just lost my aunt to this evil disease, which has left my my family in pieces, she was a very special lady. I dont feel there i enough information on HLH ‘in adults’ so kindly let me know details of your event to spread the word so the loss of my precious aunty Pauline isnt completely in vain. Many thanks, Claire xx
My daughter passed away in July 2013 at the age of 25 . I am devastated please would like to be kept informed about this terrible killer disease .
Adriana@icon.co.za
This past year in february I was dignosed with secondary HLH. it had happed because of a previous disease I had so I was put on the medication 6-mp caussing immune difficiancy. Then I had caugh the mono virus and was immediatly sent to the hospital. I had chemo and another infusion called retuximab. I’m doing absolutely wondeful now but it was a very scary and life changing event for me at the age of 15
Audra,
My son was 10 when he contracted secondary HLH , EBV induced , he was treated as you have been, he was in hospital for 3 months and has not had any further treatment,
He will be 17 next week , Ski’s and is an active sportsman and is studying for University.
He never looks back or discusses his experience , I am very proud of him as I’m sure your parents are of you.
Good luck now and for the future
Thankyou everyone for sharing your stories. They enlighten, inform and plant seeds of hope. I have an 11-year old nephew who was diagnosed with secondary evb HLH last October. Prior to that he was having on off fever for about four months and doctors could not diagnose what it was. Being in a remote north eastern state of India, they kept suspecting all the common diseases such as malaria, typhoid or even tuber culosis. Finally, he was taken to the All India Institute of Medical Sciences (AIIMS) the premier hospital of India in its capital Delhi and doctors diagnosed him as having secondary HLH. They started with the initial 8-weeks therapy under the 2004 HLH protocol and he was alright till the disease got reactivated again. Yesterday began his first stem cell transplant. He vomited and was put on oxygen and doctors said it was an acute reaction and a rare one which occurred in 1 out of 100. We were very worried but he has since stabilised. I live in Australia but am in contact with my sister everyday. Last year I flew all the way to India was at AIIMS for my nephew’s treatement. I know what the disease is by now and that prompt diagnosis is key to survival. At the moment, I am staying positive about the stem cell transplant. I would like to know if there is anyone in the group who has had stem cell transplants. Thankyou for listening to my story and thank you again for this wonderful website with so much information.
Hi Indira,
I’m sorry to hear about your Nephew’s diagnosis, but glad that it was caught and treatment begun in time. We chose to have a stem cell transplant for my daughter Zoe, and it was a successful procedure. She was approx. 6 months old at the time of the transplant. We wish you and your family the best, and hope your Nephew’s transplant process is a quick and successful one.
Evan
This June I was dignosed with HLH. I was using immunosuppressants (methotrexate) and HUMIRA (last year) more then 20 years because of my severe psoriases. This medication could be the underline cause HLH.
NOW: Start chemo and Dexamethasone, antibiotics e.c.t.
I was trying to ignore all information about HLH to continue normal lifestyle. It did not work!
I am new to all of this. Scared!
I would love to contact people who have some knowledge but my writing English could be a problem.
Please, contact me: reloya@yahoo, or 561-777-3637 Tatiana