Gretchen Wedholm, t(8;21) partial duplication 8q, partial deletion 21p
December 29, 1998 - May 22, 2000

As promised to myself -- here is our story.

We tried for over a year to get pregnant and once we succeeded we were thrilled. The pregnancy went without a hitch until the last day. I loved being pregnant - felt great the whole time, etc.. I had to be induced at 41 1/2 weeks since the baby wasn't going anywhere by herself. To make a very horrible labor story short -- she wasn't breathing when she came out so the neonatal team took over immediately. She didn't cry for the first 4 minutes - my husband, ken and I thought she hadn't made it. Then she cried and they whisked her off to the NICU (or Level II Enhanced nursery at this hospital). They knew something was wrong because she had some physical features that normally signified a "syndrome" of some sort. She weighed 6 lbs. 10 oz. and was 19" long.

Five hours later, we finally got to see our new daughter, Gretchen, after listening to 6 different specialists tell us what was "wrong" with her in their arenas of expertise. She was beautiful and perfect to our eyes. She was diagnosed at 2 weeks with a Partial Trisomy 8q and partial deletion of 21. And unfortunately, I am a carrier and never knew it. Here is what complications she had:
- Agenesis of the corpus callosum (missing part of her connections in the brain)
- Cleft palate (not lip - not fixed by the time she passed away) - broken collarbones (from delivery - fixed with harness within 2 weeks!) - Never cried - a blessing in many ways but made it very difficult to know if she was in pain)
- Very high tolerance for pain
- a short and webbed neck (an extra fold of skin at the base of her neck)
- Congenital heart and lung failure
- a large VSD (hole in her heart) and another heart defect called DORV (double outlet right ventricle -- both fixed with open heart surgery at 6 months old)
- on oxygen 24/7 (was only off of her O2 for 2 months of her life)
- severe reflux - always throwing up after eating
- hip dysplasia (fixed by double diapering for 3 months)
- had tubes put in her ears at 12 months (she had raging infections that we didn't know about because of her being non-verbal)
- contractures of her fingers and toes

She was finally released from the hospital at 3 1/2 months of age and brought home. She then was in the hospital (even if just overnight) at least about 10 other times in her life. She was almost 17 months when she passed away on May 22, 2000. Gretchen was the happiest of babies - even when she was fighting some infection or something.

She had no sucking mechanism so she was fed via NG tube (in her nose) until her heart surgery when they also put in a G-tube in her tummy. Everything was also complicated by the fact that she had unusual airway which caused any surgeries to be "very big deals". We work very closely with an ENT, cardiologist, GI specialists and pediatrician. She was never eating enough - the most she ever weighed was 16 lbs. 8 oz. When she passed away, she probably weighed 13 1/2 lbs. (maybe?!?!?)

Anyway, we would have our constant ups and downs. We would have 2 good weeks with her not throwing up then we would have 2 weeks with severe reflux. We thankfully had an incredible nurse working with us Monday through Friday for 8 hours a day. What a blessing. Gretchen only cried 4 times in her life - we never could tell why and it never lasted for more than 5-10 minutes, tops! Although she was non-verbal, she giggled and smiled and laughed all the time. She loved watching our chocolate lab walk by her and would love to pet her if we put her hands on her fur. She thought her daddy was the silliest thing in the world (which he is!) and loved to warm everyones heart who met her. All the nurses and doctors we worked with were phenomenal - always knowing that we loved our daughter and had her best interest in mind at all times. We often would decide against a procedure or event if it wasn't going to be able to solve any problems. We didn't have her cleft palate fixed since the drs. said it would only affect her speech and she wasn't speaking yet. We didn't want to put her through any unnecessary surgeries or procedures if it wasn't going to be worth it.

We were so blessed that she survived as long as she did. The geneticist thought she wouldn't survive the first few months let alone almost 17 months. She surprised everyone.

 What ultimately caused her to pass away wasn't her heart or lung failure surprisingly enough. She had been fighting a fever off and on for about 3 months - we had many blood tests done to see what was causing it and everything always came back fine. We rushed her to the hospital on Sunday night/Monday morning at 1:30am because she hadn't been eating well at all (maybe 8-10 oz. all day!) and was throwing up still and her oxygen saturation levels were lower than normal. She took a turn for the worst at around 8:00am and her fever spiked to over 108.0 (that was the highest the thermometers in the hospital go) around 10:00am. The doctors were telling us that when a fever is that high - its the body's central nervous system saying it doesn't know how to regulate its own body temperature. There was nothing they could do. Today was going to be the day. Her breathing was so irregular and poor that she was on a dose of oxygen 15 times her normal dose. So, we sat with her and held her in the privacy of her hospital room and made her as comfortable as possible. We gave her a 1/2 dose of morphine around 2:30pm and she stopped breathing about 4 minutes later. It was amazingly peaceful. She had never looked so peaceful. She was finally not in any pain or discomfort and didn't have to face another doctor or nurse.

We miss her horribly every day and our lives are forever changed but we are comforted to know that she isn't suffering any longer. We feel that we have been handling the grieving process pretty well since we feel that we have been "grieving" for her slightly since the moment she was born. We have no regrets of things we did and didn't do. We loved her as we would love any child - if not more. And we brought her wherever we were going to show her the world around her even if we had to bring tons of unusual medical paraphernalia with us.

Whew....sorry so long -- I told you'all that I knew it would take me awhile. I have to stop.

Now, I need to go rest and regroup -- one of our most important things we do for each other these days. Thank you for publishing this memorial to Gretchen. Sincerely, Cindy Wedholm
cinwed@bellsouth.net