Phase one of operation Yale is complete. We are well on our way to obtaining Mermaid’s entire genetic code. Well, Yale is on their way. We will not receive the report directly but any medically-relevant results will may be obtained through the right channels. Only took me a month to get it all packaged up and out the door! Which sounds about right for the life of a working Mom. We are excited to have Mermaid’s information hitting the skies on its way to the East Coast.
In case you missed the last update I will give you a quick reminder. Mermaid was invited to participate in a research study of people with skin disorders at Yale University School Of Medicine/Yale-New Haven Hospital. The goal is to find out how inheritance of specific genes causes some people in families to develop skin diseases.
The first step was to literally, put our life on paper. Parental consent, family skin conditions, symptoms, origin, PCP & Derm info, Grandparents information and other medical history of the family. Seemed easy enough, until every time I started working on it I got one line done and one of kids or pets needed my full attention at that exact moment. Monkey snacks and 16 trips to the potty an hour are of the utmost importance in our house, but we finished!
Next was to collect Mermaids biological sample, aka… spit. Saliva can provide much of the same genetic information as the blood sample and being that we are on the other side of the country makes completing this portion, much easier.
Mermaid’s DNA will be screened for mutations and then stored indefinitely for future use.
Little Miss Independent insisted on completing this part on her own, (45 min later we had about ½ of what was needed, so Mommy stepped in).
With our sample capped and everything tucked neatly into its package – I felt accomplished.
On a side note, Did you know the workers at fed ex drop off’s can’t handle anything marked biological substance. Interesting fact for the day. We are so lucky to get to be a part of the research surrounding LEN and ILVEN and hope our contribution makes a difference.
Stay posted for our biopsy coming up next week!
Thanks for walking with us today,