Amy had her follow up appointment with Dr. Cavalier today at Children's Medical Center at Legacy in Plano. We are so lucky they just built this new campus and are close by, about 20 minutes.
She gave us lots of information about hereditary spherocytosis (HS). They did a complete blood count (CBC) today and found that her iron levels were normal today. She recommended that we stop the iron supplement for 3 months and then come back in October to do another CBC to check the levels. We also got to see her blood under the microscope and we could really see the difference in the cells. She does have some normal red blood (RB) cells. Normal RB cells live for 120 days, and spherocytes live for only 20-40 days. Her case is considered mild. Some things we have to look out for is if she becomes tired easily, loses energy, shortness of breath, pale skin (all anemia related), yellow eyes and skin (jaundice related). Her bone marrow is working overtime to make new RB cells. Sometimes infections/viruses slow down the bone marrow and cause her blood counts to drop. This results in anemia. Each time she is sick they will most likely do a CBC to check her levels. If her levels drop too low she will need a blood tranfusion.
She doesn't and hasn't had a large spleen. RB cells are mostly destroyed by the spleen. Since her spleen is working so hard to get rid of the abnormal cells, it can enlarge. Everytime she goes for a checkup they will examine her spleen. About 50% of all HS patients will have their spleens removed, however it would not be done before the age of 2, but usually after 5. This can help by allowing the blood count to return to normal. This is the only place in the body where RB cells in HS are prematurely destroyed. However, once it is removed she is more likely to become sick. If her symptoms remain mild she will most likely not have it removed. Another complication that many have with HS is gallstones. This is due to the breakdown of the bilirubin (waste product from RB cells that have been destroyeed) in the gallbladder. Removing the gallbladder can take care of this and elimanate future problems with gallstones. We also learned today that either William or I most likely have it. It is possible that her genes spontaneous mutated, however, HS is an autosomal dominant disorder. About 75% of children diagnosed with HS have a parent with it. Amy has a 50/50 chance of passing it on to her children. HS is found equally in both genders.
She might not be able to participate in contact sports or other strenuous activities. When we think she is ready for sports we will need to discuss it with the doctor. If her spleen is large, then it is possible that she will not be allowed to play.
She is more likely to become sick and it will take her longer to recover, even is she still has her spleen. She did talk to us indepth about the parvovirus (fifths diseas), which will only happen to her once. This highly contagious virus stops the bone marrow production of new RB cells and her blood counts drop. If/When she has this virus it would require a blood transfusion.
She can donate blood when she is older. However, if she is anemic she would not be able to give.
We will go back mid October for another CBC since we took her off of the iron. If her levels continue to be normal, then we won't have to give the iron supplements. If she is low, then we would go back to it. She did say that she would like to see her at least every 6 months for a while, then eventually go to annual appointments.
Next time William and I have a doctors appointment we can request to be tested to see if we are carriers of HS.
They also gave us a great website to access information about HS
in search box at top of page type "hereditary Spherocytosis"
click on the first section: Hereditary Spherocytosis (HS)
then look over to the right for quick links "A guide for patients and their families"