This week has been one of ups and downs. We found very little information on WHS and how it will impact Kendall. It is very clear to us that this syndrome is unique for each person, regardless of the chromosomal deletion. We could find a person with the same exact deletion and it could have a completely different effect on Kendall. We also realized that the magnitude of variety is so extreme, that the chance of us finding someone exactly like Kendall is impossible. This Syndrome is so rare that most doctors we talk to or learn about have only seen between 5-10 cases over their 30 years of studying genetics. We attempted to search for other clues by talking to other 4p- parents. We talked to one family in Los Angeles and have emailed a few others. We are trying to look for the best case scenario so that we can start setting some goals for her. Realistically, she is going to be what she is capable of being. So, we have officially moved from “looking for answers” mode to “treatment and monitoring” mode. When there is no cure and no similar case, we have to do the best we can to look forward and give her everything possible to be healthy, happy and loved.
One step in moving toward grasping this condition included taking her to a Neurologist. We found one of the best available in the city and brought her to Children’s Memorial this past Wednesday. Our research has shown that the majority of 4p- kids have seizures. Our visit with the doctor was more of an assessment and counseling than anything. Since we have not seen her seize and any medication at this point would just sedate her (leading to more development delays), we have taken their advice to not apply any medications until we actually witness seizure activity. There is a small chance that she will not have seizures and we hope that the odds will be in her favor. Our next visit is with a well known Geneticist tomorrow. We hope to get some answers on how to address other risks, such as kidney problems and heart issues.
Until we see that there are other maintenance measures we can take, our highest priority is to get her as much nutrition as possible. Since her recovery from Rota Virus, she has been eating well and we continue to push her threshold of food intake (both bottle and G-Tube). We have been able to increase her amount to about 30% more than the nutritionist has advised us to feed her. It seems to be helping because she weighed 11 lbs. at the Neurology visit, which was about 10 oz more than what she was 2 weeks prior.
As of this writing, she is doing well, but she as caught a cold from Carsen. We can’t seem to get a string of more than 4 days of consistency with her, both with food intake and health. When she’s sick or has a cold, she stops eating and her gag reflex gets more sensitive. We do whatever we can to avoid these situations, but nothing seems to work…
More after we talk to the Geneticist.
Kendall at Children’s Memorial Hospital
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