spherocytosis

• By theatremom
• Posted June 22, 2009 at 11:35 pm
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My son has Hereditary Spherocytosis. He's 2. He's the 16th member of my husband's family to have it. He has had 10 transfusions thus far. I feel like I have an honorary PhD in spherocytosis because I've studied it so much. Let me know if I can help you out in any way.

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• By schester99
• Posted June 23, 2009 at 10:20 am
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We recently went through something similar in April when my first grand child was born. She was born April 14, 2009. She was jaundiced from birth to age 3weeks when it peaked to a scary level. Her skin was pumpkin orange. Up till then they had blamed the jaundice on various other normal newborn stuff like breast milk jaundice.

That was until her hemoglobin levels dropped to 6. The ped then sent us to the specialist and a different hospital to get transfusion. This is when they told us they suspected HS. We don't have 100% dx. They saw some spherocytes but were unable to get the osmotic fragility test done before the transfusion. And they informed us that neonatal production of cells was still going on so it might be hard to give 100% dx until after she is 1 year old.

Either way, we are in the same boat. But so far we have only had 1 transfusion. We had a near miss for transfusion number 2 when the baby caught a sniffle. She dropped down to six again but they waited a day to see if it would come back up and the next day it was at 8. Phew! I was a bit nervous but was hopeful cause the bug she had only lasted 2 days.

Right now we are in a period of good health, and I pray it will stay that way for a longer period since we are now in the summer months. I hope that this will get easier for her when she is a little older. It was pretty rough for a newborn. But she seems like a little trooper. I hope you will have the same luck with your son.

Its been good to get support here on this site from the few folks that have knowledge on HS.

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• By robertjo
• Posted June 29, 2009 at 12:36 am
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My mother had HS, but the doctors did not realize what her problem was until 1958, when she finally had her spleen removed. She was always very sickly before this. At the age of 22, in 1982, I had mine removed and my energy and strength levels were amazing to me. I am now 49 and my 11 y/o daughter has it to the extent her spleen is very enlarged. Our homotologist is adamant about her keeping her spleen as long as possible, but she is always sickly. My wife is sticking to the Drs. beliefs, but I'm not so sure. Looking in the family cemetary, dating back to the early 1800's, I notice a few children that died young and it makes me wonder. Has anyone that has had their child's spleen removed at an early age regret their decision? Another question: An employee of mine says all his siblings had it but him. Does anyone know if he can pass this gene on to his children?

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• By jon123
• Posted July 7, 2009 at 3:11 am
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I am 31 years old. I had my spleen removed when I was 9 , since then i am healthy. no probablems.
Why doesn't your doctor want to remove her spleen? is here HGB OK? is her spleen enlarged? does she have Gul bladder stones?

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• By Blblues_1
• Posted July 7, 2009 at 8:42 am
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I am a 4th generation with this disease. I have 3 babies with this disease. They are 2 yr. old, 1 yrs. old, and 6 months. My infant was the worse. I have opt not to do the blood transfusions. Have they put the baby on daily folic acid yet? The baby SHOULD NOT be in daycare!!!!! Home care is ok, DAYCARE is NOT!!!! They will get sick often enough on their own, they do not need any help. He will need his spleen out around age 9 or so and maybe his gallbladder. My family did not loose their gallbladders. He will also get a flu and pnomonia shot each and every year! Always take him to the dr. when he has a fever!

Be prepared for ALL the viruses coming your way! It is very hard. However, remember 3 things: First, remember it gets better as they get older. Second, don't let your son use this as an excuse as he gets older not to do something... this is not a disablility!!! Third, be his best advocate especially at school. There are laws to protect him for being sick, don't let them hold him back or just ignore him because he is out sick often! I am a teacher and have personally been through this from teachers when I was a child!

Add me as a friend and I can answer any questions you have. I have been through this both personally and as a parent!

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• By Kastce
• Posted July 7, 2009 at 10:19 am
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Hi! I have congenital spherocytosis and now have two sons (19 months and 2 months old) who both inherited the disease from me. I wasn't diagnosed until I was 9 and had both my spleen and gall bladder removed.

My 19 mo old son's Hgb had dropped to as low as 6 at 3 weeks old but he was never transfused. Our 2 mo old son had an initial count of 14.5 that continously dropped until he was 5 weeks old so did up having a transfusion once it dropped to 6.7. At the last check, two weeks after his transfusion, it was holding at 9.3. He'll go back in 2 weeks to the hematologist to check on his counts again. Hopefully, they will remain stable and he won't have to be transfused again.

We went through the same thing with our older son (two week checks and now going as long as 6 months in between). Aside from regular doctor visits/vaccinations, blood count checks and being vigilant about their feeding/pooping, color and watching for fevers, you really don't have much to fret over. I've been on both sides, so if you have any questions please feel free to contact me. I know it's hard watching them go through this when they are so little (my parents didn't have that with me since it was discovered until I was 9), but at least for me going through it now as a parent I know it's something we can live with.
Katey :)

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• By JanCO
• Posted July 11, 2009 at 1:46 pm
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I've seen 6 hematologists in the past few years trying to figure out what's causing my hemolytic anemia. We've ruled out the more common causes but they haven't checked for any type of spherocytosis.

My labs show spherocytes sometimes, but not all the time. My hemoglobin averages about 7-8 but when I contracted Parvo Virus last year it dropped to 4 and I needed transfusions...I also developed heart failure because of it.

I have had anemia all my life but all my doctors kept telling me to take iron and wouldn't look into the cause. I finally started pressing for more tests and purchased a hemoglobin meter which has given me a wealth of information as far as what triggers hemolytic attacks. It can be anything from mothballs to a virus and even certain foods, cleaning chemicals, etc.

Do you always have spherocytes show up when you have spherocytosis? I wondered if it could come and go based on what you were exposed to. I do have an enlarged spleen much of the time and have constant reactivations of Epstein Barr virus. My T-cells are normal in count, but don't respond to viral infections so half my immune system is shot.

Thanks for any information.

Jan

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• By jon123
• Posted July 16, 2009 at 8:12 am
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Hi Jan,
According to what I know, you always have spherocytosis - i.e. when you are born with it your blood cells are deformed. it is not a disease that comes and goes. The thing that changes is how your body reacts, especialy your spleen. When you have a virus your spleen destroyes more red blood cells and then you might need a blood transfusion. this is called a hemolytic crisis.
I suggest you go to a good hemotologist in your area and get a diagnosis for the disease. They can see it in your blood sample under a microscope. If you do have spherocytosis then you will probably need your spleen taken out. I did this when I was 9 and am healthy now.
If you have any questions - feel free to ask.
Jon

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• By TomN
• Posted August 5, 2009 at 5:35 am
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Hi sfguido - hope your son is doing OK.

My daughter was born 3.5 years ago and diagnosed with non-Hereditary Sphero (they cant find it in either me or my wife) at four weeks old via blood tests to investigate causes of persistent jaundice. She then had weekly blood tests for about four months, then monthly for a year to establish her baseline Hb levels which seem to be around 8-8.5.

At 18 months she caught parvo virus (aka slapped cheek disease) which knocked her flat and was transfused due to her Hb being around 4 (she surprised her doctors by being basically well but sleepy!) - very scary for us but she turned around immediately on having had the transfusion - She has had one other episode of low counts - about 5 but wasnt transfused and recovered by herself. The parvo crisis is the only transfusion she has had to date.

Apart from looking pale no one realises she is anaemic and she is just like any other toddler, bright as a button and has hit all her developmental targets without a problem so far - she gives her mum and dad a tough time like any other kid but is a joy to have around.

She is on daily folic acid and her doctors have played down her needing a splenectomy so we will see what the future holds. She gets annual flu vaccinations and now sees her Haemotology doctors once a year.

I know some kids need a lot of transfusions, particularly early on and we have have been lucky not to. We watch her very carefully and are always looking to see if she is having problems - she does seem to have developed quite sophisticated ways of conserving her energy by assessing situations quite carefully before getting involved and is very partial to sitting reading a book rather than running around - not sure if that is just a part of her character or as a result of her anaemia... She is in nursery every day with lots of other kids and has caught the same bugs and viruses as them - we haven't noticed her being any sicker than her friends (in fact she has probably been weller than many)

Our consultant Paediatrician has 4000 kids on his books and only has one other HS kid so cant give us huge amounts of advice - the web has been a good source of info but we are basically happy that she is a well, happy kid.

Hopefully this gives you a perspective from someone who is further down the HS line than you - I do remember being very scared, sad and guilty about it immediately after she was diagnosed but understand more about it now - we do worry about how it will impact on her in the future but recognise that we are lucky to have such a wonderful daughter.

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• By sfguido
• Posted August 18, 2009 at 8:26 pm
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Thank you everyone that replied to me on information on my son's spherocytosis, my wife and I have accumulated alot of information on this disease, since I posted my request on this web site my wife had a chance to meet with great doctors that are very familiar with this disease. we are trying our best to deal with this one day at a time.

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• By melissaw1
• Posted October 8, 2009 at 12:27 am
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My son was diagnosed with HS when he was 7 years old after contracting Parvovirus and going into Aplastic Anemia. He had two blood transfusions during this crisis. We were not aware that our child had this genetic disorder until he became deathly ill. We took him to the dr and was told that he just had a virus and he'd be fine, just keeping giving him fluids. A few days later he could barely stand - his HB count was down to 3.2. His hematologist said if we had waited any longer to bring him back in he would have died. He had his spleen removed the following year.

He will be 18 in just a few weeks and is healthy. He does get sick now and then, but really takes care of himself and really watches what he eats. He had his tonsils removed after his Dr noticed enlargement during his yearly sports physical. He is very much into sports as well.

My advice to you is just to find an a good hematologist and don't be afraid to take control of your son's health care. Do as much research as you can, and do not be afraid to ask questions. Good luck!

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