Re: Genetic Testing

This past Thursday we learned the results of our daughter's genetic testing for Von-Hippel Lindau Disease. It is with much grief that we report that she has taken after her daddy in this regard. She does indeed have VHL. Dave wants to post his own blog on this issue, and I will see that he does at a later time. As her mommy I have many worries and concerns, but I take comfort knowing that Dave is a productive and simply wonderful man and I have no reason to expect any less of my child. Things will always go wrong in life and there are no guarantees but I do feel guilty knowing that my child will already start out at a slight disadvantage. As her mom I can't help but feel responsible. The last couple of days have been a little difficult as we have come to terms with the news, but we both love and adore our unborn child and can't wait to show her the joys of this world and welcome her into our arms with love.

I am posting a very general description of VHL so everyone can get some basic answers to their questions.

The disease is caused by mutations of the Von Hippel-Lindau tumor suppressor (VHL) gene on the short arm of the third chromosome.

VHL is an autosomal dominant disorder, but there is a wide variation in the age of onset of the disease, the organ system affected and the severity of effect. Most people with von Hippel-Lindau syndrome inherit an altered copy of the gene from one parent. As long as one copy of the VHL gene is producing functional VHL protein in each cell, tumors do not form. If a mutation occurs in the second copy of the VHL gene during a person's lifetime, the cell will have no working copies of the gene and will produce no functional VHL protein. A lack of this protein allows tumors characteristic of von Hippel-Lindau syndrome to develop.

Features of VHL are:
angiomatosis - little knots of capillaries in the retina and various organs.

hemangioblastomas - tumors of the central nervous system (CNS, especially the cerebellum, brain stem, and spinal cord).

pheochromocytoma - tumors of the adrenal medulla that often produce catecholamines

renal cell carcinoma - malignant tumors on the kidneys

pancreas - cysts and tumors of the pancreas, which may be neuroendocrine tumors. Can be visualised by CT scan.

Untreated, VHL may result in blindness and permanent brain damage; death is usually caused by complications of tumors in the brain or kidney, and cardiovascular disease secondary to pheochromocytoma. With early detection and appropriate treatment, there is more hope today for people with VHL than ever before.

A Black Confession

Truly. We have a black confession. We have added to our family and have accepted another cat into our midst. Part of Dave's job involves registering and grading tests of medical residents for a "live subject" test perfomed at the West Michigan Laboratories. The live subjects are little kittens. They undergo a day or two of some pretty harsh stuff, but then afterwards are adopted out to homes: They come fully vaccinated and spayed/neutered. Of the seven cats being used last week Tuesday only three of them had homes already arranged. Of the remaining four, three of them were black females. (I have such a soft spot for black cats.) And so, Dave called and said that maybe we needed to take one home. Of course, I agreed.

Yesterday we welcomed Annabelle into our house. She is such a sweety! She is currently staying with "Mom" in the master bed & bath and hopefully tomorrow we will begin introductions with the rest of the family. She has very dark eyes and kind of a smushed face. Very cute. For those of you who know my relationship with Edgar, I can assure you that at this point he is doing pretty well. He knows she is in the room, but he has remained surprisingly calm about it. (It also helps that I took a nice long nap with him and "his blanket" on the couch this afternoon.)

And so, that is our "black" confession.

Bird vs Cat

Chloe was on an antibiotic for a while to help clear out some bad bacteria in her crop. She was acting fine and healthy before she got the medicine, but after the medicine she became a total clown! She would lie on her back and bat around an [empty] highlighter marker, swing from her cage and throw her toys at you while doing it, would hold entire conversations with herself, and at one point she hopped down and walked across the floor to the cats. She was there to boss them around, and the cats were a little freaked out!

Reflections of You

For my birthday I had Daddy take this picture of me and you. You are the best gift I could ever receive and I wanted to celebrate that somehow. It is amazing to me the ways in which you have already changed my life, four months before you are even due to enter this world. You already keep me awake at night with your new found strength at kicking me from the inside out, particularly early in the morning. You have made me experience physical discomforts that I normally would never have accepted willingly, and yet, for you it is all worth it.

You already have me wondering about your future and what avenues of life you may pursue. I wonder if you will be more like Daddy or like your Mama. I wonder what you will look like. Will you have red hair, brown, blonde? I wonder what your favorite hobbies will be. Will you love to read like me or will you pick up new hobbies that Daddy and I could never do even if we really wanted to (woodworking for Daddy and painting for Mama).

I wonder who your closest friends will be. I wonder what your favorite subject in school will be. I wonder how many hearts you will break or how many times yours will be broken. I already worry about these pains that you will suffer. I already worry about how I am going to help you through the harder times in your life. I already have this huge desire to protect you from everything bad in this world. I know I can't, and I know you will have to experience the same things that we all do: Death, disappointment, heartache, failed relationships, and more. Yes, there is so much that I already wonder about and worry about.

I simply can't wait to meet you and see for myself who you will become. You are already my daughter and I already love you.

Celebration Weekend

This past weekend has felt much like Christmas. I was wrapping presents for fathers, Dave, a friend for his birthday, and a friend who gave birth to her third child on Friday morning. Of course, in addition to all of this it is also my birthday today. Needless, Christmas is the best equivalent I could think of.

But no one cares about that so much, I think everyone is more interested in knowing about Thursday's ultrasound. Baby looks good! She is about in the 60th percentile for growth right now and came in at 14 ounces. Wow . . . Nearly a pound already. There was a lot of commotion while the ultrasound was being taken, so I missed quite a bit of what the technician saw. The largest surprise was when she came back with our "baby pictures" and one shot included a picture of her eye! Included in this blog is this "eye" picture and another profile shot. To see the changes from 12.5, almost 17 and almost 21 weeks in simply incredible!

We still have not heard back regarding her genetic testing for Dave's disease but we should know within another week or two at the most.

I have also included a picture of Dave and me from yesterday. We had a lovely day together to celebrate Father's Day for him and birthday for me. I like to think of this as our first "family of three" picture.

Speaking of Father's Day . . . Dave will say that he got the best "gift" ever. He finally got to feel the baby kick!

A Dream Come True

Yes, a dream has come true for me. For the last several years I have been saying to Dave, "You need to give me a craft room." Obviously, he has never been able to come through with his promises that he would until our most recent move. Finally, after years of dealing with a corner of the living room as my crafting space we had the opportunity to transform one room of our house into our "study" (a.k.a. my crafting room). My unpacking, sorting and organizing is now complete and the rest of the world may never see me again. I have my books and I have my craft supplies. I need nothing else. And, as the picture reveals, I am already busy at work!

19.5 Weeks

At the request of a few people I have decided to include a new picture of baby and me. This is me completely natural: No makeup, hair is still wet from the shower, and I am wearing the "comfy clothes" that I normally don when I am at home all day. I figured this would give a more accurate portrayal of what pregnancy really looks like, and I also noticed that I had grabbed a once-upon-a-time-it-fit shirt that would show how much I have grown.


Otherwise, life keeps plodding along. I spent a lot of time in the back two rooms last night. I had Dave do all the heavy lifting but I did all the sorting and organizing. It won't be long and we will have our study ready to use and the baby's room will be empty and ready to prepare for our daughter.

And as a point of business, for those of you who keep asking about a baby shower, I will let you know as soon as I can about a date. I first have to wait for my sister to settle her bridal shower dates. (Yes, my family is having quite the year: Second daughter getting married, new son-in-law, and then a first grandchild! We couldn't possibly feel more blessed.)

P.S. Funniest thing: I was just looking out the window when I saw a huge Buck walk through our front yard. Suddenly he looked startled and agitated and then I saw why: Papa Goose was chasing him and Mama Goose was standing there squaking! Nothing quite like seeing a little black goose head go bobbing in the brush after a huge deer.