A mother-of-two and birth coach has described the heart-ache of not being able to breastfeed her baby girl who was born with an incredibly rare syndrome that affects the size of her mouth and means she needs to be fed through a tube.
It pains Makayla Butcher to admit it, but it means she struggles to bond with Juliette, her second daughter.
Just having Juliette, and her first child Charlotte, feels like a blessing: Makayla, 24, and her US Army husband John, 26, were not sure they could conceive after Makayla was diagnosed with PCOS (polycystic ovarian syndrome).
But they started fertility treatment early – shortly after they got married in 2013 when Makayla was 19 and John 21 – and it was a success.
In January 2017, Charlotte arrived, and a year later, they were pregnant again.
The second time round has been different, though: Juliette has a rare syndrome called Freeman Sheldon, caused by a mutation of a gene that happens at random – it’s not genetic – and causes abnormalities in the face, hands and feet.
Now, the couple are sharing their experience to help other parents who feel stuck when their birth story is not as rosy and straight-forward as they had expected.
John has helped so much by spending time with Charlotte to give Makayla some alone time to bond with her new born baby, Juliette, who has Freeman Syndrome, meaning she can’t breastfeed
Juliette is a happy babbling baby with the sweetest little smile
‘This bonding time I have with her at the moment feels very clinical because it’s like I’ve been a nurse for the last five months,’ Makayla said.
‘I’m still trying to find my balance.’
Makayla has always been fascinated by motherhood, pregnancy, and the wondrous connection between women and their babies.
She worked as a nanny and trained as a nurse when she and John, newly wedded, were relocated to Colorado, where he was assigned.
Soon after, John was relocated to Hawaii, where Makayla started training as a birth coach.
She would marvel at the women she worked and trained with, and longed for her own child, quietly aware that it might not happen for her.
Women with PCOS have elevated levels of the male hormone androgen, which causes ovarian cysts to form whenever a follicle fails to deposit an egg, making it hard to conceive.
Finally, after three years on fertility treatment (she did not disclose which type), it happened.
The couple met at university in California in 2012. They hit it off right away and in August 2013, they got married
Makayla believes that breastfeeding is a very special part of bonding with your child and doing so with her first daughter was an amazing experience (left). Juliette needs to be regularly fed with a feeding tube (right)
The pregnancy and birth were smooth, and Charlotte arrived in January 2017.
In spring 2018, Makayla was happy. She had a 15-month-old daughter, Charlotte, and had started taking on clients as a birth coach, loving every minute of it. It was then that she and John discovered that, against the odds, she was pregnant again.
But it was clear early on that this would be a different kind of journey.
At their 20-week scan, the medic left the room and returned with the high-risk obstetrician who specializes in childbirth. He pointed out several abnormalities to the baby’s face, hands and spine.
The medics took a blood sample to test for different syndromes and booked her a follow up appointment for the very next day.
‘When he [the OB] came in the room, he pointed out her jaw, hands and spine to me,’ Makayla recalled.
‘The medics took blood tests to check for a range of possible syndromes and I was asked to return the next day.
‘I left with my daughter and got us into the car and I just completely broke down crying. My husband called me while I was still in the parking lot to see how the appointment went and I had to tell him, while crying my heart out, that something was wrong with our baby.
‘John was released from training right away and he was already home waiting for us when we got home.’
But the doctors tests could not confirm what might be the case.
Juliette was born on February 12, 2019, and it was clear from the beginning that she had some abnormalities.
Feeding baby Juliette when the family are out on the road
While still in the hospital, Makayla, her friends, and her mother-in-law – who’s a nurse – would discuss her symptoms.
That was when they first came across Freeman Sheldon syndrome, and the family got a diagnosis they could work with before even leaving the hospital.
Freeman Sheldon syndrome is an extremely rare disorder that usually isn’t genetic and happens randomly in individuals. It’s caused by a mutation of the gene that makes myosin which is important for muscle tensing.
The mutation causes joint deformities, limited use of hands and feet and facial abnormalities – such as pursed lips and a small mouth.
Juliette has limited use of her hands and a curve in her spine which she is being treated for. But she was also born with a small mouth and other facial abnormalities.
Makayla is a big advocate for breastfeeding and wanting nothing more in the world than to be able to breastfeed her newborn girl.
When she realized she wouldn’t be able to, she at least hoped to bottle feed her.
But sadly, even that wasn’t an option and she had to be tube-fed.
‘Breastfeeding my first daughter came very naturally for me, but Juliette follows a every three-hour pumping schedule.
‘I decided to exclusively pump as my way to make sure she is getting the very best I have to offer her, but it still takes its toll when I sit down to pump and wish I could just scoop her up in my arms and feed her myself.
Makayla now breast-pumps to feed Juliette
Big sister Charlotte is doing an amazing job of looking after her little sister
Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a ‘whistling face.’
For this reason, the condition is sometimes called ‘whistling face syndrome.’
People with Freeman-Sheldon syndrome may also have a prominent forehead and brow ridges, a sunken appearance of the middle of the face (midface hypoplasia), a short nose, a long area between the nose and mouth (philtrum), deep folds in the skin between the nose and lips (nasolabial folds), full cheeks, and a chin dimple shaped like an ‘H’ or ‘V’.
Freeman-Sheldon syndrome is also characterized by joint deformities (contractures) that restrict movement. People with this disorder typically have multiple contractures in the hands and feet at birth (distal arthrogryposis).
These contractures lead to permanently bent fingers and toes (camptodactyly), a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation, also called ‘windmill vane hand’), and inward- and downward-turning feet (clubfoot).
Affected individuals may also have a spine that curves to the side (scoliosis).
Source: US National Library of Medicine
‘The tube is what is keeping her thriving, but it breaks my heart as a mom for her to have this tube on her face. But it’s how we keep her fed and growing and for that I’m thankful.’
Building Juliette’s core strength is an ongoing process.
She has difficulty processing liquids, including her own saliva, so she is tube fed until she is cleared to eat by mouth.
Sometimes she can choke so they need to be on alert just in case.
‘The hardest thing for me as a mother has got to be the feeding tube. It’s been a big struggle,’ Makayla said.
‘It hadn’t even occurred to me until late into my pregnancy that a tube would even be a possibility and I’d so hoped to be able to breastfeed. Then I’d even hoped to bottle feed her, but sadly neither were a safe option.
‘Being a birth worker, I have the opportunity to teach new parents the importance of breastfeeding and it’s many benefits which includes bonding with your baby.
‘For me there are very few things that come close to the closeness you develop in a breastfeeding relationship… it’s incredibly special.’
Juliette has the same mentality as any other five-month-old baby. There are no delays. She has also not needed any surgeries. She is incredibly easy going and has the cutest smile that melts hearts all around.
Makayla recommends anyone in a similar situation to find other people going through the same thing and learn from them.
‘We are lucky that she hasn’t needed any surgeries. She is the most relaxed baby. She’s happy and always babbling and bouncing around. She loves stretching and pulls the sweetest tiniest little smile,’ said Makayla.
When Makayla found out there was a problem at her 22 week scan she was devastated and her husband rushed home from work to support her
‘Her strength and temperament are amazing. With everything she has to deal with she still rarely has a bad day. She’s always smiling and makes everyone else happy in the process.
‘She’s just simply an amazing little girl. Yes, I do need to be more intentional with her as I can’t always offer automatic cuddles and bonding time from breastfeeding or even bottle feeding. We don’t let that get in the way too much though.
‘We always make sure she gets all her play and quiet time in with me and her sister. My husband and I take turns as often as possible to give each of our girls one on one time and he takes a lead on a lot of Charlotte time to make sure I have an opportunity to spend some uninterrupted time with Juliette.
‘If you’re in a similar situation to us then go and find others you can talk to and learn from. Education is your super power.
‘Also, remember that it’s OK to feel sad or angry but don’t stay in that place too long. Feel it, release it and go and be the amazing parent your loved one needs you to be.’