A blog to share about Adrenal insufficiency, Addison's Disease, Aspergers Syndrome, Autism, Music, Inspiration, Scrapbooking and other elements viewed through the lens of my life. I'm hoping that others who are traveling this journey may find some commonality, and maybe some information and inspiration.

Wednesday, November 23, 2011

Thankful Thought No. 4

I'm so thankful for this little girl in our lives. I don't take any day with her for granted.

It was touch and go from the beginning. Due to problems with the pregnancy, the doctors told my daughter that this baby had a 50/50 chance of making it to term. They took their chances.

There were concerns right at birth - they checked her for kidney problems due to certain physical anomalies, but her kidneys seemed fine.

Then, she was losing too much weight right after birth. She was very sleepy. My daughter had to wake her up every two hours to try to get her to nurse so she would gain weight. Around the clock. It worked, she started to grow.

As she grew, we started noticing other problems. A little slow developing, staying very small (this in a family of large, delightfully fat babies). We called her "Peanut".

She was very late climbing stairs, and refused to come back down. Then we noticed her eyes turned in a bit. Since her mom had strabismus as a baby, and it was successfully corrected with surgery, we figured like mother like daughter. A visit to the ophthalmologist proved otherwise. She has a very small optic nerve and partial blindness. We're still not sure exactly how much of her visual field is missing, but we know the lower part of it is because she would always fall when there was even a slight level change, especially in new territory. She has optic nerve hypoplasia, which means her optic nerve didn't completely develop. This is often associated with other mid-line brain abnormalities, so she has to have tests for hormone levels done about every six months. Lots and lots of needle sticks. And yet a casual observer would not know she has vision problems, and we are very thankful that her blindness isn't more severe. Many children with this are totally blind.

Then she caught a virus that the other children had, but she didn't get well. She kept getting more and more lethargic. Back to the doctor, who was inclined to say it was just the flu. Thankfully there was a nurse at hand who also worked for a geneticist. She suggested some tests, and that was when we found that she is really low in carnitine.

Carnitine is a substance that our cells require in the production of energy. When it is low, the muscles, including the heart muscle, have no fuel to run on. We still don't know for sure the exact cause in her case. She has done so well on supplemental carnitine, and does so poorly without it that they didn't want to do the testing required to find out since it would necessitate taking her off the carnitine for a period of time.

Her language development has been very very slow, although she is obviously an intelligent child. She is in a special needs classroom, and she has really grown and developed under their care. Her speech is still limited though, but she is communicating so much better than before.

She also has autistic-like behavior patterns, though she isn't a classic example of autism. She used to ignore anyone who wasn't in her little circle of known family members. And she never initiated playful interaction. That has all changed as time has gone by, for which I am very thankful. She now will initiate play with her sister - such a joy to see, even if she is often too rough and tumble.

A newly developed test has show than she has DNA deletions in three different places, some of which are known to cause developmental delays. The next step is to test her parents to see where this investigation will lead.

It is a relief to know, on the one hand, that these are genetic issues and no one could have done anything different to effect the outcome. On the other hand, it's forcing a recognition that these problems will be with her for the rest of her life, which is a source of grief.

But oh, that girl can light up my day! She is happy so much of the time, full of enthusiasm and energy. I'm so thankful that she survived to be born, that she is such a tough little girl in some ways, that she continues to grow and learn, and most especially for those wonderful "Hi Grandma"s accompanied by huge hugs and kisses. What a gift she is!

1 comment:

trish said...

Where is the "LOVE IT" button??