Zade is 18 months old and lives with his mum and dad in Texas. Below his mum Ashli writes about Zade.

What form of CNM/MTM is Zade diagnosed with?

Zade has X-linked myotubular myopathy.

When did Zade get diagnosed?

Zade was diagnosed at the third hospital he was transferred to when he was about four months old, but two months old if you count by gestation.

What symptoms prompted Zade’s diagnosis?

I gained 15lbs at the end of month six of my pregnancy which enduced the whole labor process, after losing 37lbs during my pregnancy. Then when Zade was born he was a skeleton baby, no muscle tone, elongated face, couldn’t breath, his eyes were still not open, he could not swallow or hardly move, he had what they call floppy baby syndrome.

How long did it take to get Zade’s diagnosis?

About four months.

How was Zade diagnosed?

He was diagnosed by lots of blood work with muscle biopsy during his tracheotomy and g button surgery. Everything was done at the same time.

What impact did the diagnosis have on you?

Prior to the diagnosis we knew Zade was different but when he was diagnosed it just put worry in our hearts, like if our son was going to be able to have a chance at a normal life, were we going to be able to financially support all of his needs. I was a little sad that I never got my mother son bonding time but now our bond is stronger than ever. I still have my worries and fears but he is my world.

Have you explained CNM/MTM to family members and what was their reaction?

I have vaguely explained it to them. Most treat him as if they are going to catch his condition, some don’t even come around any more or call to check on him after finding out that he will be this way always. It is sad that some of their reactions were bad but we still have a few members that still love him the way he is.

What implications do you think it has it had on your family?

Well since his diagnosis and the whole hospital experience I am more knowledgeable about how the medical world works. I am more picky as to what type of nurse cares for my son as we have had some bad things happen to my son. When he first got home we believe he died for three minutes or so and the paramedics got him back. When he came back to us he was blind, it took him a week to get his vision back to close to what it was like before, so we don’t take anything for granted.

How has the diagnosis affected you e.g. telling your children, starting a family, genetic counselling?

It has affected my husband and I as we want more children but don’t think we can go through all the emotions and worry like with Zade. So we are still iffy about having more kids, even though if it happens again we will still love him or her just the same

Do you have advice for people who are looking for a diagnosis?

Diagnosis isn’t a cure but it will give you clues as to what will happen in the future. Never give up and if you feel the doctors are not sure and they are only going on speculations, push and push for the correct diagnosis.

What are Zade’s current symptoms?

Zade’s symptoms are low muscle tone, he can’t swallow, can’t cough, can’t talk, can’t walk or crawl, barely holds his head on his own, is trached, vent dependent and suction dependent, has bad reflux, glaucoma and fluid build up in the ears.

What treatment is Zade having/has he had?

He has had not treatment, we are just letting Zade tell us what he needs by what his body tells us and in his reactions to vent changes, suctioning, medicines etc.

How did you find a doctor?

We found his pulmonary doctor at the fourth hospital he was in and this doctor has remained his doctor. His pediatrician was found by family recommendations.

What has been your experience of the healthcare system and healthcare professionals?

Our experience of both the healthcare process and the nurses has been horrible. I feel like I have seen everything but I still get shocked at things that happen.

Has your diagnosis had any health insurance implications for you?

Health insurance don’t want to help on certain things. Zade is the only one that has health insurance because I was denied. Things seem to be getting worse too and it feels like I have to fight for everything Zade needs.

What advice would you give to someone who has just been diagnosed with CNM/MTM?

My advice is to be an advocate for your child, don’t give up the fight. It is hard and you must take a break for yourself every once in while – you will need it.

What is Zade’s favourite film?

Zade’s favourite movie is Elmo movies.

What’s the best advice you’ve been given?

The best advice that was given to me was keep fighting.


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