Follow-Up Appointment

Emmalee had her 1 year follow-up with her geneticist today. 

Things we know: 

1. She is a carrier of Myotonic Dystrophy

(A healthy individual can have up to 34 Gene repeats. Patients who have 38-50 repeats are said to have a “pre-mutation” and can be asymptomatic throughout their lifetime. However, they are at increased risk of having children with larger repeats. Patients with 75-11,000 repeats either have late onset myotonic dystrophy Type 1 or Type 2 meaning they are born with it. Emmalee has 69 repeats and falls within the “grey area.” Hers will more than likely present itself progressively as she gets older. Her symptoms are all over muscle weakness and Hypotonia. Her symptoms could remain as they are or progress as she ages. Type 2 is more rare than Type 1 and happens in 1 in 8,000 patients. 

2. She has a mutation on her DPF2 Gene. This gene is associated with a rare genetic disorder called Coffin-Siris Syndrome. Symptoms that present in Emmalee are:

Feeding difficulties/disorder/oral dysphasia/failure to thrive.

Metabolism difficulties. Hyper Carotenemia.

Low motility of organs associated with digestive tract. 

Frequent respiratory infections

Diminished muscle tone (hypotonia).

Abnormal looseness (laxity) of the joints.

Delayed bone age.

Developmental delays.

Intellectual disability or speech delay

Gastric abnormalities which may include one portion of the bowel sliding into the next like a telescope.(intussusception)

Mutations in DPF2 have also recently been described in individuals with a “Coffin-Siris like” phenotype. Researchers believe the disease can be transmitted genetically as an autosomal dominant trait but most cases appear to be the result of a “new mutation.” 

We are working to find more answers. We need a test called “Full/Whole Exome” that insurance has denied several times. With this updated appointment, recommendations and information, we are hoping they will reconsider to help us get answers to better support Emmalee. 

We may never have the answers. Our goal right now is to manage these symptoms. We have an urgent referral for a GI specialist to get help with her feeding challenges. 

Memorial Day Potluck

 We invited friends over for a potluck.

Memorial Day

 🇺🇸Today was harder than Patrick and I imagined it would be. Today was the first time we have visited our Grandparents graves together since they passed. (We have each gone separately and without the kids several times.) We decided today that we would visit and share what we love and miss about our grandparents with our children to help them bridge the gap between Earth and Heaven. We spent the car ride and moments at each grave shedding our tears and talking about memories and reasons why they were special to us. Remembering the things they would do and say and the way they showered us with love while they were here with us. Patrick and I couldn’t hold back our tears and it felt amazing to feel and confront some emotions that came flooding back that we have kept inside for so long. We were able to be there during the flyover, the 21 gun salute and heard the bagpipes play the Taps. We were so proud of our sweet and reverent kiddos who patiently waited as we held each other and cried a few times. We took a moment to kneel in prayer at my Grandpa Thompson’s grave and thank all the men and woman who fight/fought bravely for our freedoms. We honor the fallen and the passing of veterans today. We pray for those still fighting everyday. 🇺🇸Memorial Day 2022🇺🇸

Family Play Date

What do you get when you put two families together for 6 hours and add in card and board games, virtual ping pong and mini golf, a last minute collaborative dinner, crazy fun (and messy) toddlers, root beer floats, Brawl Stars and endless Disney movies??? A whole lot of fun!! Thanks Kyle and Haley for always being up for a last minute family play date!

 

Home Salon Day

Patrick and Paige’s nail and hair spa was open today. 😉 Daddy did Caralynn’s nails and curled her hair. I did Emmalee’s toenails and applied Color Street to mine and Em’s fingernails. I put Color street on Catherine too.

 

Adventure

The girls and I went on an adventure today. I took them to ride the Sky Tram. We rode up, had lunch at OHSU and rode back down. We bummed around and took pictures for a bit before heading home. I love these girls:)