Make A Child Smile

Destiny's Story
written by mom Tracy

My pregnancy with Destiny (our middle of 3) was going well. At a routine 2 month ultrasound, they found that I had Placenta Previa and put me on bed rest for the remainder of the pregnancy (not an easy thing, especially with a 5 month old). They decided to do a c-section in my 8th month, so as to not take any chances with Destiny or me. She had a little trouble with getting the junk out of her lungs so they put her in NICU for a couple of hours, and when she seemed ok, they brought her back to our room (the first time I got to see her since they took her out and whisked her away). I couldn't walk yet due to the epidural block.

We took her home about 3 days later. When we got her home, she started projectile vomiting (I'm talking exorcist style), she was changed formula a few times and put on cereal. They found that she had acid reflux and put her on medicine.

As the months went by, Destiny was still not gaining weight. At 6 months old, she still only weighed 7lbs. She still couldn't hold her head up or hold her own bottle. We finally had an appointment with a GI doctor who admitted her to the hospital that day for Failure to Thrive. We wouldn't leave for a week and a half, she spent her first Easter there.

While in the hospital, they started testing to see what was going on and why wouldn't she gain weight (we joke now that she was our little alien baby because she had a large alien looking head and a small body). They came and told us at one point that they thought she might have a syndrome called Kabuki, but when her tests came back, it was positive for Glutaric Aciduria (Acidemia) Type 1, which is the inability to process the proteins tryptophan and lysen. This as I have read, is a very rare genetic disorder which affects only around 200 people or less in the world.

They did MRI's and CAT scans and found that the build up of protein had damaged her basal ganglia. They put her on a special diet that at first, she got through a tube running down her throat and she finally started gaining weight (actually too much for a while) and she got a little chunky. When we were in the hospital and she was starting to feel better, we finally saw her first smile (she had been colicky for the last 6 months trying to tell us she didn't feel good).

Destiny was finally getting strong enough that she started holding her own bottle, then holding her head, and a lot of other milestones. She used to do a little army crawl all over the place. She was on a diet that allowed very little protein, we had to weigh and measure everything. One time, when she stole a chicken nugget from her brother and gobbled it down before I had a chance to grab it, she wasn't allowed much more food for the day.

She was in her exersaucer one day, when she started shaking and went limp. I was home with just her and her brother and witnessed this. I was so scared, I had never seen a seizure before, I called 911. We went to our local hospital and they sent us to Children's Hospital because of her disorder. We were there for a couple of days and she seemed better so they sent us home.

Destiny became a bright and happy little girl. She was always wearing a smile and getting in to everything. She was 2½ when our lives changed. She wasn't feeling good that day, so I was letting her sleep in. I decided to go up and check on her and she was non coherent and limp (though she was still breathing). I recognized this as how she acted after the seizure she had about a year before. I called her doctor who told me to either bring her in or call 911. I decided to call 911 because I was afraid that she would have a seizure on the 30 minute ride there, and it would just be me, her and her brother.

When the paramedics got to our house, they assessed her and were loading her up in the ambulance. As soon as they did, she started having a gran mal seizure and turned blue. They gave her oxygen and as soon as the seizure stopped, we headed to the hospital. Right after we got there, she had another seizure. My aunt showed up to help me and went to x-ray with her (I couldn't since I was pregnant at the time with her little sister). I was then told that she had another seizure during x-ray and then another after she got out.

They took us to Children's Hospital. We were there for a week and she was so out of it from all the Valium to control the seizures. We left on a another medicine. While at home, she would have these spells where she would cry, scream and stiffen up (I thought they were her posturing), this would happen about a hundred times a day. I thought that with how she was acting and doing stuff, that maybe she had had a stroke, so I took her to the hospital to be tested and she had an episode there. At that point, they told me they thought it was a partial seizure and sent us back to Children's. We were there for another week (this was only a couple of days after leaving).

At this point Destiny could no longer suck on a bottle, she couldn't eat, walk, talk, or hold her head up, the seizures had taken everything that she had worked so hard at (she was just starting to cruise). She didn't get anything to eat for about 2 days, just the IV fluid while they waited to do surgery to put in a g-tube.

I left the hospital with a very frustrated little girl. At one point, her g-tube came open at night and gave her 2nd degree burns from her stomach acid. She has since had surgery again to fix a hernia and put in ear tubes and then another surgery soon after. Then due to unknown reasons, she started losing all of her beautiful curly red hair. It finally came back a year later, a little less red, but a lot more curly. At one point she was admitted for a week for a temperature of 104 -105 that they couldn't get to break. The doctors were testing her for everything, they thought maybe meningitis but found it to be just a very bad upper respiratory infection and gave her a dose of IV antibiotics that finally broke her fever.

Destiny's most recent surgery was to lengthen her abductor muscles to help her walk, repair a hernia and remove an ear tube that hadn't come out. We recently found out that this surgery didn't work and have to discuss hip surgery now.

Well, to sum things up now, she is a very happy girl though she gets frustrated sometimes at not being able to tell us what she needs. She gets speech, occupational and physical therapy every week. She has 3 wonderful nurses that help me take care of her. She is mainstreamed in school and will be starting first grade next year. She has been tested and proved that she was above her age she understands anything that a normal child her age would understand plus some. Destiny is wheelchair dependent, she can only say about 4 words if she tries really hard. She doesn't have very good use of her hands so we are trying to get her a eye gaze device for communication, but with a price of around $15,000, we haven't come very close. We do fundraisers which helped us get her a handicap van and hopefully this device.

Through everything, she continues to be a very happy girl. She usually has a smile for everyone she meets, and is friends with most all the kids in her grade, plus some other grades also.

(Story and Interests were last updated May, 2008)