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  • Care4ASH1L

Brave Brynja - Iceland

The story of our #ASH1LWarrior Brynja has been narrated by her mother.

When I got pregnant with Brynja I had some nausea and had some problems with getting and holding down enough liquids but it was the same with my older ones. I was diagnosed with pregnancy diabetes but her scans all came out normal and she looked healthy the whole pregnancy. I was able to control the diabetes with just my diet and it seemed to have very little effect on our health.

When I was just over 38 weeks pregnant my water broke. She was born about 15 hours later and it seemed odd to me that she didn’t cry at all but they said that it might have been the pregnancy diabetes that had an effect there. Now I think that the hypotonia was effecting her.

After she was born she would never cry and was never hungry. When she drank she drank very little. When she was 17 days old she lost a lot of weight in just 24 hours so we went to the hospital to get her checked out. That day they put a feeding tube through her nose to help feed her. She slept constantly and we had to wake her every three hours to get her to drink as much as she would and that was only about 20 ml each time. We were in the hospital for ten days trying to get her to drink more and weighing every diaper and her twice a day. While we were there we met a neurologist. He did some tests on her and told us she had hypotonia which is low muscle tone, it affects her entire body. She started getting physical therapy at only six weeks to help with it.

Brynja will be 22 months old now. She still has feeding difficulties and had an operation in

January 2020 to get a g-tube put in. She gets most of her nutrition through her tube but she can have pureed foods but eats very little. As of now she is unable to digest meat and chunks as well as has difficulties swallowing them. She has had a MRI and CT scan because half her face started to droop. After testing they saw that it wasn’t a problem in the brain but i n the nerves in her face that corrected itself in about two months. She has had swallowing studies done and it came back normal as well as the pictures of her digestion.

They couldn’t figure out what was causing her severe hypotonia and feeding difficulties so they did a genetics test. When Brynja was about six months old we found out that she has a De novo heterozygous mutation in the ASH1L gene. That mutation seems to be the underlying cause for her medical issues and her developmental once.

Brynja has been l ate for every milestone in her development. She didn’t start to hold her head by herself until she was 5 months and started to roll over when she was about 9 months. She started being able to sit by herself most days when she was about 16 months old but she sometimes has days that she can’t even hold her head up without help. She started to crawl at about 17 months and she did so on all fours. She is, according to specialists, about 50% behind her equals in development. She does babble but no words have yet to emerge and she is able to point to things she wants but eye contact has been limited. She was better at it but she seems to take two steps forward and then one step back but we are working the eye contact. She has also started to show symptoms of autism spectrum disorder. She doesn’t recognise her name and shows repetitive behavior like wagging front and back as well as throwing her head into walls and floors.

Brynja goes to physical therapy twice a week, oral therapy once a month and then we get help from social educators with her development. We need to be hospitalized routinely because she still throws up a lot and with all her feeding difficulties she gets dehydrated often. She has a number of medications to help with that. She has medications to battle constipation, nausea, acid reflux and to help her sleep. While she sleeps her oxygen levels drop routinely down to about 80% and even lower and then we need to change her position and try to get her levels up. Also when she throws up she almost drowns specially when she is sleeping because her neurological reflexes are very slow so she is unable to help herself. She gets meltdowns often where she cries and yells and throws her head into the floor. She doesn’t seem to have a normal pain threshold it seems abnormally high and she isn’t able to feel when she gets cold and doesn’t seem to be able to feel difference in temperature all the time so we need to be extra careful with how she is dressed and about the temperature of her environment.

We get really sleep deprived and our bodies often have a difficult time because we need to carry her so much. But she makes it all worth it because she is so beautiful and so much fun to be around on her good days. She seems to love glitter and the color purple and has a big temper so she shows us what she likes and dislikes in a really loud manner.

We hope for our girl that she might be able to walk this year and might say her first word. But if she doesn’t that’s OK because she is something special and surprises us everyday. We know that she will most likely always need help in her daily life but our hope is that she will be happy and as healthy as she can be.


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