I'm Degra Nofsinger, midwife, and our team at Luna Midwifery has had to privilege of working with the Carter Family for their last 2 babies. The Carters have become our friends as we have navigated life together. The youngest Carter, Maple-Mae, has 2 chromosomal conditions: Beckwith Wiedemann Syndrome and Cri-Du-Chat. She is seemingly the only person in the USA with both of these conditions, so there is much mystery in her ever-evolving health care plan. We are reaching out to our community to ask for financial assistance as the Carter Family navigates the increasing medical and physical needs of precious Maple-Mae. The Carter family could use your help financially with:

~ A van big enough to hold all of maple’s adaptive gear and oxygen (they have already found an amazing connection in SC)

~Help with fuel and lodging as they prepare to travel to Philadelphia, Boston, and UVA multiple times for Maple-Mae's medical appointments.

~Help with finances in regards to paying for a gym membership to the YMCA as they take her several times a week to exercise and move in the pool (they have a 50% discount but it’s still $45/month they don’t have)

Please consider making a donation to the Carter Family.

In love,

Degra and the Luna Midwifery Team

Maple-Mae's mother Cassie shares her medical Journey:

Our daughter Maple-Mae was born early in February of 2023. She is our fourth baby, and the first to come early. She has been surprising us ever since!

Immediately in the NICU she had severe feeding issues, difficult breathing patterns, low blood sugar, alongside many other symptoms that began to show us “something wasn’t normal”.

We proceeded to bring her home in complete bewilderment as to what could be causing such issues…. We had met with many lactation consultants, pediatricians, etc. no one understood why she was struggling so much to breathe, eat, and sleep. She now had a prominent umbilical hernia, a giant tongue hanging out of her mouth, and a strange cry. Our next step was to see an ENT for a tongue tie release.

The ENT asked us a series of questions, and we quickly realized she was picking up on something we hadn’t noticed. She rejected performing the tie release, and told us we needed to see a geneticist immediately.

We quickly were seen by a geneticist in Roanoke and an ENT at UVA. We were almost admitted into the ER that very day, because of low oxygen and poor breathing.

She was clinically diagnosed with BWS syndrome (Beckwith Wiedemann Syndrome) an overgrowth syndrome connected to chromosome 11. She checked off most of the boxes

•large birth weight for gestational age

•low glucose at birth

•umbilical hernia

•plethora of facial and neck and head birthmarks

•uneven legs, ears, etc

•large tongue that hung out

This syndrome is linked to childhood tumors/cancers, so now we have routine bloodwork and ultrasounds every 90 days till she’s 8 years old.

She has been over the 99th percentile her whole life. Now weighing in at 46 pounds at 1 years old, and unable to move on her own. So we have to have many adaptive mechanisms in our home for daily function, such as

•adaptive highchair and activity chair

•adaptive bath seat

•adaptive stroller

Soon arriving:

•stander

•walker

•car seat (as she is about to exceed legal weight for standard seats )

She also exhibited

•strange breathing patterns/continual low oxygen

•severe feeding issues

•a weird cry that sounded like a cat

•extremely low muscle tone

•floppy airways

•severe sleeping issues

•non stop screaming

But none of these are directly related to BWS. So we disregarded them till 6 month checkup…. And not one single milestone had been met.

We then continued further genetic testing to find she had a deletion on chromosome 5P 15.33. This is connected to the genetic syndrome of Cri-Du-Chat (cry of the cat syndrome). This would begin to explain the low tone, floppy airways, cry, severe sleep apnea, no rolling over, no sitting, no crawling, and eventually no standing and non verbal and limited motor skills.

However, because her deletion is small for Cri-Du-Chat, we are having to contact several researchers, because her case is considered a-typical.

Not to mention, there’s not one case we can find in the US where there’s a child who has BOTH BWS and CDC.

Our work has been cut out for us. And there’s been no real answers, just a lot of wait and find out. We graciously appreciate your prayers and gifts.

In love,

The Carter Family