Prader-Willi Awareness Month- Day 3

Hi Everyone,

Today we will talk about Genetic Testing and subtypes of PWS.

How is PWS diagnosed?

PWS is diagnosed with a blood test that looks for the genetic abnormalities that are specific to PWS – called a “methylation analysis.” A FISH (flourescence in-situ hybridization) test identifies PWS by deletion, but it does not diagnose other forms of PWS. The methylation test will identify all types of PWS and is the preferred test for diagnosis. If a methylation test is done first, additional testing may be needed to determine whether PWS is caused by a paternal deletion, UPD, or an imprinting mutation. In cases where an imprinting mutation is suspected, blood may also be drawn from the parents.

What causes Prader-Willi syndrome?

PWS is caused by a lack of active genetic material in a particular region of chromosome 15 (15q11-q13). Normally, individuals inherit one copy of chromosome 15 from their mother and one from their father. The genes in the PWS region are normally only active on the chromosome that came from the father. In PWS, the genetic defect causing the inactivity of chromosome 15 from the father (paternal chromosome 15) can occur in one of three ways:

PWS by Deletion

Most often, part of the chromosome 15 that was inherited from the person’s father is missing, or deleted, in this critical region. This small deletion occurs in approximately 70% of cases and usually is not detectable with routine genetic analysis such as amniocentesis.

PWS by UPD

Another 30% or so of cases occur when an individual inherits two chromosome 15s from their mother and none from their father. This scenario is termed maternal uniparental disomy (UPD).

PWS by Imprinting Mutation

Finally, in a very small percentage of cases (1-3%), a small genetic mutation in the Prader-Willi region causes the paternal chromosome 15 genetic material (although present) to be inactive.

Kemett has UPD.  We had genetic testing done while in NICU with a geneticist and also had neurological testing done.  They had no idea what was going on with Kemett.  We’d go up one day and be told he was doing great, and then go up an hour later and another doctor would tell us he might die soon.  It was terrible.  I finally had a doctor tell me to not google the tests they were doing- they were all spectrum- and concentrate on Kemett.  He was our baby and would always be our child first.  That really helped me turn around my thinking, and concentrate on Kemett and not what his diagnosis might be.

We were released prior to tests coming in, and met with the geneticist a week or so after.  We were relieved to find out Kemett did not have SMA or myotonic distrophy.  She was pretty sure it was PWS but we needed further testing.  This was then lost for 8 weeks and we were lied to about this.  Once we figured it out, we finally found out he had PWS- UPD subtype.

We were scared when we first found out what he had when we googled it.  Do NOT google PWS.  We soon found blogs from parents whose kids were doing great!  We felt so much better.  And having a diagnosis allowed us to get started, set doctors appointments, meet parents online, etc.

See you tomorrow!

Love,

The Demands

 

Who dat?

Who Dat?!

Leaving the hospital

Leaving the hospital

PWS Awareness Month- Day 2

Hi Everyone,

There are multiple stages/phases of Prader-Willi Syndrome.

Stage 1

In the first stage, infants with PWS are hypotonic or “floppy”, with very low muscle tone. A weak cry and a poor suck reflex are typical. Babies with PWS usually are unable to breastfeed and frequently require tube feeding. These infants may suffer from “failure to thrive” if feeding difficulties are not carefully monitored and treated. As these children grow older, strength and muscle tone generally improve. Motor milestones are achieved, but are usually delayed.

Kemett was born with low muscle tone and a failure to thrive.  He barely moved in NICU and started Physical Therapy immediately!  We worked on range of motion exercises and helping him strengthen his neck.

He also had an NG tube for the first 5 months.  He was always able to suck on a bottle but would tire out quickly and not be able to complete them.  It’s hard to believe that the first few months of life we were excited when he’d drink 5 extra mL!  He could not breastfeed, and we did try many times, so I pumped exclusively for 9 months instead.

When Kemett was born he did not cry, nor did he cry the first night we had him in our room.  I remember envying the mom’s in their rooms with crying healthy babies.  I thought how they might be tired of that cry or frustrated by it, and all I wanted was to hear Kemett scream and cry.

Kemett has also been delayed in meeting milestones, but more on that in another post!

Remember, we love questions!

Love,

The Demands

My PT with Dad

My PT with Dad

My first smile

My first smile

I workout!

I workout!

Kemett is 11 Months!

Hello Everyone,

I can’t believe that Kemett is already 11 months!  I have been thinking about life a year ago.  We were anticipating Kemett’s arrival by getting his room ready, washing baby clothes and cloth diapers, and nesting.  We were resting and watching the Sopranos (Kemett’s favorite show :-)).  We were ready for whatever life was about to hand to us, and I’m so happy we were prepared with an open mind.   During those long days spent in NICU, all I did was think about that room we had made for him and those cloth diapers I wanted to put on him (I was so tired of leaks and blowouts in disposables in the nicu), at home.  I just wanted to be home, away from the strangers, the wires and cords, and separation from Kemett.  We wanted to be able to sit on the couch, watch football, and hold our baby while he slept. ( Although, Kemett had a great view of the stadium and tower from his bed, it still wasn’t the same.)  We wanted the comforts of home; to build our family and get to know Kemett in our own way.  We were lucky to only spend 3 weeks in NICU.  We were lucky we could take Kemett home.  I envy those with easy deliveries and who get to take their babies home, but I wouldn’t change our experience for anything in the world.

Here are some highlights from this month:

  • Kemett weighs 18 lbs 6.5 oz and is 29 inches long!
  • Kemett can sit up straight and get into a crawling position.
  • He got his 7th and 8th teeth!
  • He had his second sleep study (they do one 6 months after being on growth hormones).
  • We visited his Nanny at the LBJ Library to see their 60’s exhibit.  Kemett is ready to read the Feminist Mystique.
  • He got a pair of Sure Steps (ankle foot orthotics) and his first two pairs of shoes!
  • We participated in his first 4th of July Parade in Belterra.
  • We had Louisiana family in town visiting, my dad’s brother, Uncle Ricky!  This meant we ate very well for that week!
  • Kemett is eating more chunks.
  • Kemett sat in the tub independently
  • Kemett swung in a swing for the first time
  • AND he rode in a shopping cart for the first time!

Next month I will have more medical updates.  He is seeing a lot of doctors, including Dr. Miller again and Dr. Scheimann.   I also look forward to talking about all of Kemett’s accomplishments this year.

Remember, One SMALL Step Dripping Springs is on September 13!  Visit our personal fundraising page for more info: http://onesmallstep.fpwr.org/dw/users/mdemand/DrippingSprings2014

Love,
The Demands

 

Kemett is 11 Months!

Kemett is 11 Months!

Kemett is 11 Months!

Kemett is 11 Months!

First time swinging!

First time swinging!

Family pic at the park!

Family pic at the park!

Kemett Sitting!

Kemett Sitting!

Fourth of July!

Fourth of July!

First time sitting in shopping cart!

First time sitting in shopping cart!

Kemett and Nanny with LBJ!

Kemett and Nanny with LBJ!

Kemett and Uncle Ricky!

Kemett and Uncle Ricky!

Sitting independently in bathtub!

Sitting independently in bathtub!

Sure Steps!

Sure Steps!

Kemett loves his shoes!

Kemett loves his shoes!