Alayna lives with her mum and dad in Illinois, USA. She celebrated her first birthday earlier this year and loves Spongebob Squarepants. Below mum Krista writes about her daughter.
What form of CNM/MTM does Alayna have?
When did Alayna first get diagnosed?
Alayna was about 4 months old when she was diagnosed with centronuclear myopathy.
What symptoms prompted Alayna’s diagnosis?
Alayna had clenched fists and did not move her legs when I was pregnant with her, I also had a lot of amniotic fluid. When she was born she was in respiratory distress. Alayna was not moving, very stiff, and vent dependent. Alayna also had pulmonary hypoplasia from her not swallowing in my belly.
How long did it take to get a diagnosis?
We got the results back in about 6 weeks.
How was Alayna diagnosed?
First Alayna was given an EMG to determine if it was a muscle disorder, came back that she did. She was diagnosed with centronuclear myopathy with a muscle biopsy.
What impact did the diagnosis have on you?
It was pretty hard on us, being her parents, and not knowing how to make it all better. After being upset with the diagnosis I told myself I would still look at her as my baby and not a diagnosis. Everything she has been through is our ‘normal’.
Have you explained centronuclear myopathy to family members and what was their reaction?
Some family members just don’t understand and others that are very understanding and don’t look at Alayna any differently than they would another child.
We still get the questions…when is she going to walk and talk. I just answer politely and say we don’t know. To her Dad and I, we don’t care. As long as she is a happy, healthy girl.
What implications do you think it has it had on your family?
It has put some stress on me and some family members, our relationships aren’t as close as they used to be.
Has it affected you e.g. telling your children, starting a family, genetic counselling?
We have decided to not have anymore kids. We had a still born little boy named Bryce at 32 weeks. I could not chance losing another child or putting another child through what Alayna went through. No child deserves that.
Do you have advice for people who are looking for a diagnosis?
Don’t put so much time and energy on a diagnosis. I understand the importance of having a diagnosis because of the future but that shouldn’t change anything. Your child is still your child no matter what they have. At first I wanted a diagnosis, but then I thought, why? It won’t change my feelings for her and I will still try to make Alayna the best person she can be.
What are Alayna’s current symptoms?
Alayna is mainly behind on motor development. She is trying to crawl and walk. Both of her hips are dislocated so I believe that is giving her problems with stability and rotation. She can get on all 4’s and rock like crazy, she just isn’t sure how to move her legs. She is also a little behind on cognitive because she spent so long in the hospital but she is starting to catch up.
What treatment is Alayna having and has she had?
Alayna was on a ventilator for three months and cannula for eleven months. She also eats through a g-button. Alayna has been off O2 for almost four months. Alayna had hip surgery on November 10th. Both of her hips were out of socket and they needed to be put back in surgically. The surgery consisted of re-shaping parts of her pelvic bone, cutting tendons, and putting the hips back into the socket. This was a major and scary surgery for all of us. Everything went great, now we are waiting on the cast removal!! She doesn’t like being in the casts because it limits her movement. Before she was rolling, army crawling and walking everywhere in her baby walker! Alayna currently gets developmental, occupational, physical, and speech therapy.
How did you find a doctor?
Alayna was transferred from our local NICU to St Louis Children’s NICU. When she left the NICU we already had all of our doctors except our pediatrician and ortho.
What has been your experience of the healthcare system and healthcare professionals?
St Louis is very good with Alayna and careful. They are amazing with her. They know what to do with her, her local doctors aren’t as wonderful. The ER and PICU here knows Alayna but are not familiar with myopathies so they try to tell us stuff they know nothing about. She went to the PICU because she was desatting, she was on cannula O2 at the time and the doctor asked me why she wasn’t on a trach. I was very confused, obviously she was breathing on her own. He wanted us to go back to St Louis to get one, well we and St Louis said no. If she needed one, then definitely lets do it, but not if she doesn’t need it.
Has Alayna’s diagnosis had any health insurance implications for you?
Not as of now.
What advice would you give to someone who has just been diagnosed with CNM/MTM?
Love your child every day and don’t take a single day for granted. There will be times of frustration but remember your child can’t help what is happening with their body. Their body is in control and will do what it wants to do.