KK Name: Amelie Palmer

 

Age:4

 

Cognitive Age: Unknown

 

Therapies: Speech therapy, physical therapy, occupational therapy

 

Schooling: Special needs preschool

 

Siblings: Darcey (almost 3), new sibling arriving in December!

 

Parents: Kate and Liam Palmer

 

Kabuki Symptoms: VSD and ASD heart defects (no surgery required, both nearly closed), hypermobility, hypotonia, sacral dimple, persistent fetal finger pads, small for her age, one toe is slightly in front, feeding difficulties, speech delay, typical Kabuki facial features

Amelie’s Story: Much like last month’s spotlight, Kate experienced no problems during her pregnancy with Amelie. Sure, she had morning sickness, but nothing that would have signaled a problem. When the time came, Kate had planned a water birth, but Amelie was already rearing her Kabuki head in protest. Her heart rate was too fast for a water delivery. Labor was progressing as it should, but her water had to be broken because Amelie had meconium and they needed to speed things up. Unfortunately, Amelie’s heart rate plummeted after this and Kate was rushed to emergency. She was 9cm dilated and had zero pain meds! She was ready to push, but was told to wait. When Amelie finally came, she had low apgar scores. She was grunting, though, and seemed to stabilize quickly. They discovered a heart murmur, but felt it could be something she grew out of and the Palmer’s were sent home.

 

The first signs the Palmer’s saw that there could be a problem were with feeding. As a typical Kabuki kid, although they didn’t know it at the time, Amelie struggled with feeding and gaining weight. Everyone tried to tell Kate that she just wasn’t feeding Amelie enough, but Kate knew better. At Amelie’s 6 week check, the general practitioner (GP) said the murmur was gone, but Kate requested to see a pediatrician anyway. By 12 weeks of age, Amelie still hadn’t put on much weight and was going in for weekly weight checks at the doctor. Kate was stressed, her days revolved around feeding Amelie. She couldn’t go out and do things because Amelie then wouldn’t eat, which of course also upset the newborn. When they finally saw the pediatrician, they were sent to another hospital the next day because Amelie’s heart murmur had not gone away. She was put on diuretics and a high calorie formula, and the Palmer’s were sent back home.

Two weeks later it was Christmas Day. The Palmer’s didn’t do much celebrating, though, as Amelie was rushed to the hospital by ambulance. She had bronchiolitis and had lost a lot of weight. This is a process that would repeat itself until Amelie was about 8 months old. She would gain some weight, and then lose it all in the hospital. Tests were run and speech therapy was called in to help with feeding. Neurology and genetics were called in. Neurology confirmed hypermobility, and genetics suspected Kabuki syndrome, which was confirmed when Amelie was 10 months old.

After this, Kate and Liam moved out of the city. Amelie’s health improved and Kate returned to work. With Kate working, Amelie went to a nursery during the day. We know where this goes! Amelie picked up every bug that came through and refused to eat. She contracted norovirus just before her second Christmas and was once again admitted to the hospital. Amelie was 14 months old and weighed just 14 pounds. That’s when they decided to do a feeding tube.

 

Even though they fought against a feeding tube, Kate says it worked wonders for Amelie. After just three months of having the tube, Amelie was on the positive side of the weight charts. She was bigger and stronger and had even started walking! Plus she was eating, so the tube was removed. Kate was on maternity leave again during this time, which gave her more time to help Amelie. She was thriving and even started eating homemade purees!

After Amelie’s weight issues were addressed and corrected, Kate says they were really through the worst of it. Amelie still has struggles and doesn’t speak well yet, but she can be understood. As Kate says, “She’s amazing.”

 

Amelie’s Favorites: “She loves preschool, her family, playing with her kitchen, her scooter and now eating which is still very strange.”

Amelie’s Relationship With Her Sister:“They have an amazing relationship although at times Darcey can be boisterous and then Amelie will just get out of her way. Mostly it's love and cuddles but the usual sibling fights in between!”

Advice for Kabuki families:“Everyone's child and path is different, however, in my experience it does get easier. She amazes me with something everyday.”

Advice for parents of “typical” children:“I don't want sympathy but it so lovely when people show empathy towards you. My boss has been wonderful and listens to me when I'm explaining about Amelie's latest speech therapy and what I've learnt. I have learnt so much on this journey.”

How Amelie has impacted the family: “I think we appreciate the little things. It has times of being really tough and I am forever worrying that I'm not doing enough.”

Amelie has definitely had her ups and downs already in life, but she is lucky to be surrounded by parents and a sister who love her unconditionally. The family has a great support system, some who came from a group PT they attended when Amelie was younger and are still in touch with. The Palmer’s have family close by, and when Kate has to work three days a week, a nanny comes in to help with both girls.

 

It’s a good thing the Palmer’s have such a great network of support because they are expecting baby #3 in just a couple of months! Kate is due on Boxing Day, which is December 26th, and we wish the whole family all the best. Congratulations, Kate and Liam! 

MAKE A TAX DEDUCTIBLE DONATION TODAY!
All Things Kabuki (ATK) is a registered 501(c)3 non-profit corporation based out of Wasilla, Alaska. We are the only U.S. patient advocacy group supporting the Kabuki community globally. Our mission is to raise awareness, incite research, and support individuals and families affected by Kabuki Syndrome. 

© 2017-2019 ALL THINGS KABUKI

  • Twitter - White Circle
  • Facebook - White Circle
  • White Instagram Icon
  • YouTube - White Circle