Strawberry Picking

Hoffman Farms is so fun. 

Last Day of School

 LAST DAY OF SCHOOL! Thank you to Mrs. Skiba (5th) and Mrs. Stroeve (1st) for making this year amazing for Anderson and Caralynn! Anderson had his elementary Graduation. The class presented the school with painted Rock Garden:) this class gift is near and dear to my ❤️. Caralynn enjoyed her class party luau:) so many fun activities and art projects:) That’s a wrap on 1st and 5th Grade! Cannot believe we have a Middle Schooler! 😭

Brinkley

Patrick’s Father’s Day Gift came 8 days Early! Brinkley is on his way to meet his siblings!!! We are sooooo excited!!!

Brinkley! You have stolen our hearts! You are smart, a fast learner, love to eat, are growing like a weed, are so fun to watch as you explore the world around you, you’re playful and sweet and we are so happy you are here!

 

Field Day

 Anderson last field day was also Caralynn’s first field day. They had so much fun.

New DAFO’s

Emmalee got fitted for her new Dynamic Ankle Foot Orthotics

 

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.