OUR STORY

MEETING EMMA

Holding Emma for the first time was incredibly surreal. We couldn't believe this was actually our baby. She was beautiful with a full head of dark hair and such an adorable little face.

But soon that excitement turned into worry as we discovered something was very wrong. Emma's heart rate was very high and wouldn't slow down. Her cry was incredibly soft and she would turn colors while crying. I also noticed very quickly that she didn't have any thumbs. It was all very unexpected (we'd had two ultrasounds that had found nothing). Our love for her only grew, as did our concern as to what was wrong.

We were soon transferred to a level three children's hospital and they were able to do scans of her body to see what might be wrong. Life turned into a roller coaster ride as we learned that more and more things weren't quite right. In addition to what I mentioned above, Emma also had the following abnormalities:

• No right ear canal and a very small left ear canal. She wears bone conduction hearing aids that come on a headband (any headband), which is why you'll always see her with a headband on. This helps her hearing almost be in normal ranges.
• She has conjoined kidneys, both on the right side. One is smaller than the other, but both appear to work well.
• She is very tiny. At five and a half years old, she almost weighs 25 pounds, the weight of about a 12-18 month old. She is about as tall as a three year old.
• She had cleft of the soft palate. This was repaired when she was three years old. It has helped her speech tremendously, but she still has challenges with it.
• But at the time, the one that worried us the most was that she had a major heart defect (TAPVR) that required open-heart surgery to repair. Her heart was connected incorrectly, but luckily she had a large hole (ASD) between the top two chambers of her heart which kept her alive.

DIAGNOSIS: Fanconi Anemia

When Emma was eleven days old (six days after heart surgery) we were given her diagnosis. Emma has Fanconi anemia (FA). It's a very rare genetic disorder is passed on by both parents carrying a recessive FA gene and both of us passing it on to our child. We have a 25% of having a child with FA.

FA causes aplastic anemia, which is bone marrow failure. It means that over an unknown period of time, at least two out of three of Emma's blood lines will fail to the point that they will not be making enough blood for her to survive. The cure for this is a bone marrow transplant. She is also at a high risk of leukemia during this time. If a transplant is successful, it could cure her blood problems, but it would not cure her of FA.

FA has a second part to it, cancer. Generally a transplant will add years to their lives, but they will then be facing some form of cancer. The problem with cancer in FA people is that they cannot handle the level of chemo and radiation that is needed in order to get rid of the cancer. This makes the cancer issue very dangerous.

Currently it is a fatal disease, but there is so much research and so much hope that who knows what the future will be like in 10-20 years for these amazing children and adults with FA. We hold onto hope and trust the Lord that He knows what He is doing... We know Emma is here for a special reason, and we are beyond grateful that we get to be a part of it and that we get to be her parents.

EMMA'S MEDICAL LIFE

Every three months, Emma has her blood levels checked. This is to monitor her levels and keep track of those that fall below normal. The main blood count that is dropping is her platelets. They are significantly lower than they should be. The rest of her blood counts, while lower than normal, are still very close to normal and aren't of too much concern.

Once a year she has a bone marrow biopsy/aspiration. This checks for early signs of cancer and also tells us how much of her bone marrow is actually making blood (only about 20% of her bone marrow is making blood. It should be around 95% at her age.).

Emma also much less regularly (maybe once a year, sometimes every two years) sees specialists for various body systems, such as her kidneys, hearts, hearing, cleft, etc.

OUR LIVES NOW

We have since had another child, Tyler Scott. He is the sweetest little brother and loves his big sister so much. He is healthy and free of FA. He is not a bone marrow match for Emma, but how can one be disappointed when we have such a special little man?

We are currently pregnant with baby number three. We have found out it's a beautiful little girl...exactly what Emma was hoping for. She wanted a brother and a sister. TS will be a great brother for two sisters! Our baby girl is due July 2008. We'll be finding out if she has FA once she is born. Either way, we're very excited to meet our newest little addition!

Despite FA and the emotional roller coaster it brings along with it, we are so grateful for each of our children and our lives. We feel so happy and blessed and try to enjoy every day...

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