All you wanted to know about Hereditary Spherocytosis

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
www.UTSouthwestern.edu
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"

Amy's First Birthday Party

It was so great for friends and neighbors to get together to celebrate Amy's first birthday. We enjoyed a mexican fiesta and chocolate cake!

Happy 4th of July

This morning we got up and went to hike the Wood Duck trail at the Heard. This was Granny first time we went and our longest hike yet, about 2 miles. ***NEW PICTURES ADDED TO SLIDESHOW, JULY 8***

Spherocytosis is confirmed

The doctor called this morning to tell me that she got the blood work back and was able to review the reports. This test does confirm that she does have hereditary spherocytosis. We will meet with the doctor again on the morning of July 9. They will go over with us her life long "plan" and give us more information about this disorder. They will do a quick finger prick to do another CBC. She will have to go atleast annually to Children's to have blood work done and to check her spleen.

Now the mystery question is...Who in our families has it, but has not been diagnosed??????????!!!!!!!!

What questions do you have about this disorder? They might be one's that we didn't think about and might be good to ask the doctor at our next appointment. Thanks!

For more info on spherocytosis
http://en.wikipedia.org/wiki/Spherocytosis
http://www.spherocytosis.org

Father's Day, Baptism, and a week on the farm!

Father's day was a very busy day. William and I are so honored to be Brady's Godparents. Brady was bapitized in a "mega" celebration. 18 babies in 30 minutes...it was very well organized! Although, I think the coordinator could have been a little nicer!! After the ceremony we went to Brady's house to enjoy some BBQ. After lunch William hit the road back to McKinney and we rode back with Granny for a week on the farm. We had lots of fun going to the park, playing at the flower shop, going to see Brady, eating out, and playing in the sprinklers every evening. On Saturday, we met William in Buffalo. He brought Amy and myself back to McKinney and Mary went back with Granny for another week on the farm for FARM CAMP. Granny and Mary will come back this weekend to celebrate July 4th at the Red, White, and BOOM! here in McKinney.

Amy is a walker!

Amy has been standing alone for a little while now. Today she stood up and walked to a chair!!!! It was so exciting to watch and unfortunatly I didn't have the camera handy. Later on she started to do the same thing, this time I had the camera ready! Although she started off the same, she didn't make it all the way to the chair. The first time she did! As you can see she had to take quite a few little steps to get there. Hopefully, she'll be taking a few more steps and I can capture those later.

Grandma Betty visit and Six Flags

Last week Grandma Betty came for a visit. She arrived Wednesday afternoon and departed Tuesday morning. We had fun hanging out at the house, going to the Heard, and going out to eat.

On Wednesday, I took Amy to Miss Debbie's, and Mary and I enjoyed a day at Six Flags. She had so much fun on all of the rides! Her favorite was the teacups. She really wanted to see Bugs Bunny, however, we couldn't find him in the park. When we did find someone who knew where he was, he wasn't going to be back for 30 minutes and it was time for us to leave.

Memory book of Pa-Pa for the girls

Click here to view this photo book larger

11 months old

Amy is now 11 months old. I can't believe that she will be 1 year old VERY soon! She is enjoying finger foods, drinking her bottle by herself, and crawling around. She is also saying some words, ma-ma, da-da, bye-bye, hi, uh-oh, and thank you (but is sounds like "tank ku"). She is getting really close to standing all by herself. She will also walk if you are holding her hands.


Earlier this week we enjoyed a McKinney Marshals game. We are looking forward to going to more this summer.


Mary has been enjoying playing in the sprinker in the backyard in the evenings.

Current Diagnosis

Dr. Cavalier just called with the results of today's bloodwork. Her iron levels are just below normal, 10.5 (11 is normal). All other counts were in the normal range. However when she looked at blood under a microscope she did find some abnormalities. Her current diagnosis is Spherocytosis. It is an auto-hemolytic anemia (a disease of the blood) characterized by the production of red blood cells, or erythrocytes, that are sphere-shaped, rather than bi-concave disk shaped (like a donut). It is caused by a molecular defect in one or more of the proteins of the red blood cell cytoskeleton, Because the cell skeleton has a defect, the blood cell contracts to its most surface-tension efficient and least flexible configuration, a sphere. The sphere-shaped red blood cells are known as spherocytes.

Though the spherocytes have a smaller surface area through which oxygen and carbon dioxide can be exchanged, they in themselves perform adequately to maintain healthy oxygen supplies. However, they have a high osmotic fragility--when placed into water, they are more likely to burst than normal red blood cells. These cells are more prone to physical degradation. They are most commonly found in immunologically-mediated hemolytic anemias and in hereditary spherocytosis, but the former would have a positive direct Coombs test and the latter would not. The misshapen but otherwise healthy red blood cells are mistaken by the spleen for old or damaged red blood cells and it thus constantly breaks them down, causing a cycle whereby the body destroys its own blood supply (auto-hemolysis).

The other blood work will take a couple of weeks and she will call with those results.