Sunday, January 6, 2013

Who is Phelan-McDermid Syndrome: Mikayla

MEET MIKAYLA
Photobucket


July 13, 1998, Mikayla "Miki" Renee graced us with her early arrival. Almost 6 weeks early, she weighed 7 pounds, 3 ounces. Miki was struggling to breathe and had low blood sugar. She displayed severely low muscle tone, similar to a rag doll. She was taken immediately to the Special Care nursery. While there, at only about 3 hours old, Mikayla stopped breathing. She was put on a breathing tube and moved to the Neonatal Intensive Care Unit. Miki was born with one non-functioning multicystic kidney. She had some touch and go moments, but fought a great fight and finally came home at 7 days old.

She had a little bit of feeding trouble, and we knew she was premature, but thought she was pretty healthy.

At 3 weeks old we received the diagnosis of Phelan McDermid Syndrome. We were obviously devastated but unconditionally loved our daughter. The boxing gloves went on, and have never come off.

Mikayla developed respiratory issues at a young age and spent a lot of time in the doctors and hospital. By the age of 6 she seemed to be outgrowing it, thankfully. Age 8 was a memorable year. She was fully potty trained and diagnosed with both hypothyroidism and lymphedema.

Mikayla's speech began very slow, but has continually increased as she has gotten older. She is 14 years old and speaks in sentences most of the time. She is such a happy girl, most all of the time. She is doing amazing at life skills, and is continually reaching milestones we have been praying for.

Mikayla has been blessed with a large family. Two sets of parents, a sister and 4 brothers. She is adored by all that meet her. She is our "Miracle Mikayla."


Mikayla doing puzzles on the Kindle!

This story was told my Mikayla's mother, Jodi.

Wednesday, January 2, 2013

P-MS Makes the Compassionate Allowances List

Towards the beginning of December, the Social Security Administration announced that Phelan-McDermid Syndrome has been added to the Compassionate Allowances List.

Read the Press Release...

What does this mean?  Families diagnosed with Phelan-McDermid Syndrome will now be fast-tracked through the Social Security screening process.  It doesn't mean families will automatically qualify for services.  (Social Security is an income based program.)  It will help those who have been denied because Social Security couldn't prove whether P-MS was a disability. 

Compassionate Allowance Website