Definition of Hereditary Spherocytosis

Yep, it's official: mom passed it on to baby.

Hereditary spherocytosis: A genetic disorder of the red blood cell membrane clinically characterized by anemia (Kirsten's entire life), jaundice (yellowing) (Amelia had this at birth) and splenomegaly (enlargement of the spleen) (Kirsten had an ultrasound last month confirming an enlarged spleen).

In HS the red cells are smaller, rounder, and more fragile than normal. The red cells have a spherical rather than the biconcave-disk shape of the normal red cell. These rotund red cells (spherocytes) are osmotically fragile and less flexible than normal red cells and tend to get trapped in narrow blood passages, particularly in the spleen, and there they break up (hemolyze) leading to hemolytic anemia.

The clogging of the spleen with red cells almost invariably causes splenomegaly. The breakup of the red cells releases hemoglobin and the heme part gives rise to bilirubin, the pigment of jaundice. The excess bilirubin leads to the formation of gallstones, even in childhood, There is also often iron overload due to the excess destruction of iron-rich red cells.

Hereditary spherocytosis is most common in people of northern European ancestry. It often shows up in infancy or early childhood, causing anemia and jaundice. The bone marrow has to work extra hard to make more red cells. So, if in the course of an ordinary viral illness, the bone marrow stops making red cells, the anemia can quickly become profound. This is termed an aplastic crisis.

Laboratory studies show evidence not only of many spherocytes but also increased numbers of reticulocytes (young red blood cells), hyperbilirubinemia (increased blood levels of the jaundice pigment bilirubin due to the breakup of the red cells) and increased osmotic fragility of the red cells.

HS is due to a deficiency of a protein called ankyrin. Ankyrins are cell membrane proteins (thought to interconnect integral proteins with the spectrin-based membrane skeleton.) The ankyrin of red blood cells (erythrocytic ankyrin) is called ankyrin-R or ankyrin-1. It is represented by the symbol ANK1.

The HS gene, that for ANK1, has been mapped to chromosome 8 and, specifically, to chromosome band 8p11.2. HS is inherited as a dominant trait so, if a person with HS reproduces, their child (irrespective of whether it is a boy or girl) has a 50:50 chance to have HS (At least Amelia got Gene's blue eyes).

The treatment of hereditary spherocytosis is to remove the spleen (splenectomy). Although the red cell defect persists, the breakup of the red cells (hemolysis) ceases. Splenectomy, however, is a hazard in young children. Young children without a spleen are at increased risk for overwhelming sepsis (bloodstream infection), particularly with the pneumococcus bacteria. Splenectomy is therefore usually postponed if possible until the age of 3 years. Before having a splenectomy, anyone with HS should have the pneumococcal vaccine. Persons with HS (or another cause of brisk ongoing hemolysis) should take supplemental folic acid.

The prognosis (outlook) after splenectomy is for a normal life and a normal life expectancy.

Source: http://www.medterms.com

Oh well; I've lived up to this point undiagonosed. This way she'll have an explanation instead of all the mystery.

I'm Not Napping!

Amelia is now standing in her crib. She pulls up and chews the paint off the railing. Yuck!

Sick Sick Sick

Amelia finally got sick. First it was a fever of 103 for three days, followed by a rash on her upper body for several more days. She was diagnosed with a common (and completely unheard of to us) childhood illness called Roseola. Who knew?

Just as she was feeling better and Mom got to go back to work, green gunk started collecting in her eyes. Now she’s on antibiotic drops to cure her eye infection.

This was her first month at school, and likely where she got all these bugs. I hope the second month finds Amelia feeling much better. Besides her illness, she also got her first two teeth this last month. She’s growing!

New Mom - Healthy Baby

Well, today didn't go as planned. I dressed up Amelia for her school pictures today. Yes, we call it school instead of day care. It's easier on our hearts. We're certainly not worried about her care as the place is fabulous; we simply feel guilty. So we'll call it school.

This is only her second week and she LOVES it. She hasn't shed a tear yet and the only downside is that she's having so much fun she doesn't want to nap. We get a very tired and sometimes cranky kid to play with for the evening.

So I dressed her up for her pictures this morning and then thought we would just swing by Children's Hospital real quick for her blood draw. Am I dense? Apparently. Three hours later with one screaming baby with three needle pokes in her arms, I'm on my way home to start the peace treaty!

She's napping now and has been for over two hours. She did not have a good time this morning.

Now don't panic about the Children's Hospital visit as she was probably the healthiest kid there today. Remember my diagnosis during pregnancy of Hereditary Spherocytosis (June 14, 2006 blog post)? We're checking to see if Amelia inherited it. There's nothing really to it other than a bit of anemia and possibly an enlarged spleen. Better to know now rather than a surprise diagnosis during pregnancy.

Good thing the photographer at school has a two day gig. We'll catch them tomorrow.

Six Months Old Already?

February was a big month for Amelia. After reading the blog, my father promptly purchased an airline ticket and came to visit for the weekend. We had a fabulous time just relaxing and laughing with Amelia. She’s so very happy. I’m pleased to report that she has now met every one of her grandparents. Next we’ll focus on meeting cousins.

She ate her first food, winter squash, in the presence of Papa. She has now moved on to peas and sweet potatoes. Fruit is next on the list. She prefers to take the spoon from you and feed herself with it. What a mess!

Last Friday, February 23, Gene proudly announced that we have a tooth. I ran downstairs, inspected her gums myself, and confirmed that a tooth was breaking through. That’s when I began to sob. My baby has a tooth!?!? How can this be? The time is going by just too fast. You couldn’t really see it for several days, but now it’s a beautiful pearly white getting taller each day. It’s official – I’m the mother of a baby with a tooth.

Our dear little baby is resting at the moment; recovering from her series of four immunizations today. It was her six month well baby visit. Here are her official stats.

Birth - 8 lb. 1 oz. weight & 21 1/4 in. long

2 months – 10 lb. 12 oz. weight (50%) & 22 3/4 in. long (75%) & 15 1/8 in. head (40%)

4 months – 13 lb. 3 oz. weight (45%) & 24 7/8 in. long (85%) & 15 7/8 in. head (35%)

6 months – 14 lb. 9 oz. weight (25%) & 25 7/8 in. long (70%) & 16 1/2 in. head (40%)

As you can see, we have a tall yet petite little gal on our hands!!!

The Kid can Travel

Amelia is now a pro at air travel. We recently made a very special trip to Arizona and California to introduce her to her Grandfather and Great Grandmother. She’s now met all her grandparents except one – my Dad! We had a great time with family and enjoyed a bit of sunny weather in Monrovia, CA.

She’s a big girl now as she rides in her stroller sitting up. No more baby here. This kid can also move across rooms like it’s nothing. We’re definitely entering a new stage. The full crawl is only weeks away and we’re not ready.

Besides sifting through rental receipts to complete our taxes, we’re diving into our home remodel/update head first. After two years of getting nothing done, we’re hiring out for it. We’re simply too busy enjoying Amelia. The yard is well underway and the contractors will be showing up soon to rehab both bathrooms and the kitchen. It’s all very exciting.

Enjoy the pics!

Winter in Seattle

Second snow? Third snow? Who’s counting. Amelia has enjoyed lots of snow during her first winter.

How else has Miss Lowry been spending her time? She’s rolling over in all directions. She’s also crawling around the living room; the early crawling which could be better described as a caterpillar move. Each morning you never know which area of her crib she’ll be occupying. She turns her head to her name and constantly laughs when talked to. She’s such a delight. I didn’t want to put her to bed last night because we were having so much fun playing.

Her next adventure will be her first airplane flight to visit lots of grandparents and great grandparents in two different states.

Merry Christmas

Christmas came early at the Lowry home. Amelia Jean was our Christmas-in-August gift from God. For this reason, we pretty much just skipped over the whole gift-giving tradition. Amelia's happy and healthy and right on track with every developmental milestone; yet another gift for us. At four months of age she weighs almost 14 pounds and is over two feet long. We couldn't be more thrilled.

We had a wonderful Christmas day in Puyallup with the Felkins/Rios bunch. What a blessing to have such incredible people in our lives. They spoiled the three of us and Amelia enjoyed going from lap to lap. No crying for this gal, as she's pretty much a perfect baby.

The Holy Family

On December 3 at the Redmond Lights celebration, we posed as the Holy Family in the living nativity scene. Amelia was a perfect baby Jesus. We'll have to wait and see if she wants to do more stage work like her Great Grandma Jean, Grandma Jan, Aunt Heather, and Daddy.

Just Silly

Snow in Seattle?

It never snows in the Puget Sound region. So why would our three-month old own a snowsuit? Exactly! She doesn’t. But, we do have one gently used and very warm chicken suit leftover from Halloween. Throw on her blue doggie slippers and we're set. Enjoy!

Hi Ho, Hi Ho

... It's off to work I go.

I started back to work on Nov. 7. The transition has been good for me, despite all the horror stories I had heard from everyone. It's actually nice to use my brain on a higher level and interact with my wonderful coworkers. I did miss them, as I was out of the office for about four months.

I get up early (4:30 am), but that's about the worst of my schedule. I arrive at Nintendo around 6:45 am while Gene stays home with Amelia. They meet me at my office at 1:15 pm, we switch vehicles (if you have the baby, you get the nice car), and he's off to work at Boeing. My shift with Amelia ends when Gene arrives back home around midnight. Gene and I don't see much of each other except on weekends, but it's best for Amelia and that's what counts. Amelia has adjusted just fine to her new schedule. She’s such a terrific and easy baby.

Washington Grown

Amelia made one cute Foster Farms Chicken for Halloween. She dressed up, along with all her friends, for her first Halloween party. Then she turned into a tired pumpkin so she could pass out candy to all the big kids who dropped by our house. It was a great day.

Two days later it was time for more celebrating as this new mom turned 40! I can’t believe that one, but it’s true. The morning started with a bouquet of flowers and two birthday cards; one from my husband and one from my daughter. Then a few moments later the two of them presented me with a diamond necklace and matching earrings. Very special!

Our new little family headed out the door for breakfast at the Maltby Café, and then it was off to meet Amelia’s new friends for lunch at the Honey Bear Bakery. The day was a wrap with friends Mark & Dorothy. We picked up a quick dinner and then joined their son Aaron to watch the Bothell vs. Redmond high school girl’s volleyball game. It’s been a long time since I’ve been in a high school. It was fun to see what’s to come in the next years with Amelia.

Just Beautiful!

A day in the life of Amelia Lowry!

Vitals

Gosh, it actually has been since the last post that I downloaded our photos from the camera. And no, I didn’t do it today either. The quantity of photos taken since Amelia’s birth has definitely decreased. I’m currently sorting through the 353 photos we took in the first 13 days of her life to decide which to order. It’s crazy how the digital camera can seem to take an endless number of photos. We are still taking photos; just not as many.

Her two month well baby visit went fantastic and her pediatrician said that she’s just perfect. She holds her head up very well, is very alert, and is about to roll over. She now weighs 10 pounds 12 ounces (50th percentile) and is 23 inches long (75th percentile). Her precious little head is growing perfectly and is in the 40th percentile. She was given her first round of four different immunizations and tolerated them just fine. It really was a non-issue with a slight fever, tender thighs, and some extra sleep the next day. That was it.

Amelia really is a great and easy baby. She doesn’t even fuss when we put her down. This morning she played on her play mat all by herself for over an hour just giggling and cooing at the toys hanging over her. Of course we were both admiring her from afar, as we were trying to figure out if she knows she’s batting the toys overhead. Not quite yet, as she’s still got the uncontrolled arm jerkiness, but she’s almost there. When her arm did hit a toy, sometimes she would grip the toy. She IS perfect. We feel so blessed.

Halloween is coming! Be sure to check back to see Amelia in the cutest costume ever!

Where's Amelia?

It's not that I have too much time on my hands, because I don't. It's just that I couldn't resist this photo opportunity!

Bath Time!

Amelia loves taking baths and we love giving them to her.

Happy Birthday

On September 15, Amelia turned one month old. We can hardly believe it! She's getting so very big; over nine pounds already. She's still so beautiful and we love her dearly.

Hangin' Out

Our afternoon at Green Lake.

Don't Use the Water...

What is it with me and homes with sewer problems? The first month after purchasing my Seattle home, the sewer backed up. Then three years later the first month our tenant was there, it backed up again and had to be replaced. Thankfully I'm married to a plumber who was able to replace the pipe through the yard.
Well, now we're looking at problems of a large magnitude at our Bothell home. Darn! I need to wash some clothes for my baby and heck; I need to wash the baby! She needs a bath.
Anyway, that's my rant. Let's hope that we have a clear sewer line before Monday, which is my first day home alone with Amelia. And the date on Monday is September 11. But I guess it's not the end of my world if I have to drive somewhere to use a toilet.

Oh yeah, isn't Amelia beautiful!! We're so in love!