Ari living with Emery-Dreifuss Muscular Dystrophy

We got Araliyahs genetic testing done with the Queensland’s Children’s hospital to find out what is going on with our Ari girl. As she was showing symptoms and signs of something going on but no one could put their finger on it. We can multiple scans, x-rays and specialist see her with no answers. After seeing the neurologist team and getting her genetic testing done after two rounds we have learnt that Araliyah has a very rare condition called Emery-Driefuss Muscular Dystrophy, LNMA AD - this subtype of what she has is even rarer as well as the condition it’s self.

Each person diagnosed with this can progress very different with the time frames and how the body reacts to this LMNA gene.

For Araliyah unfortunately it is progressing very fast as well have already seen a decrease in her and her abilities to do day to day activities.

This type of muscular dystrophy also affects her heart and lungs which is the worst part of it as it has put a timeline on her life. She will need regular monitoring by the hospital and possibly even a pacemaker or a defibrillator in the future.

As it is a muscular dystrophy it affects her muscles - her muscles get weaker and reduce overtime, she will need a mobility aid to help her get around and a lot of other devices / accessible items to help her everyday living.

This also explains why Ari is very small and petite for her age and size, she also doesn’t and can’t eat much.

I know some people can’t see this at least for now or through photos. It’s been really hard to listen too, to understand and to comprehend.

Not only is Ari’s future and life and her quality of life won’t be the same but it’s a big change for our family also. In the future I will probably have to be her full time carer and we will need to change everything - houses, everything in the house once we get a wheelchair accessible one, a car that can fit and be wheelchair accessible also. We also want to get her an assistance dog to help her not only physically but emotionally and mentally.

I want to bring awareness to this certain type of muscular dystrophy because there isn’t much research on emery-Driefuss LMNA AD.

If you could spare even $1 to help support us in getting ari a powered mobility aid, an assistance dog and a new vehicle that can be accessible for a mobility aid it would really mean the world to us in helping us support and assist Ari. A new vehicle to be modified and suited for a mobility aid and a mobility aid it’s self are very expensive expenses we can not afford as she is needing all of this equipment now. this diagnosis came as such a surprise and we were not expecting this and all the things she needs and we need to change within our home, car and lifestyle.

we will also need to move houses soon as we have stairs and she can not comfortably go up or down them anymore and the house is not wheelchair accessible unfortunately.

We want to make her life as comfortable and easier on her as we can and unfortunately we can not do this alone without the support and help of the community, family and friends.

thank-you for reading this and donating if you can, if you can not that is completely fine if you could share that would be a massive help also.

Ive donated to go fund me’s myself, not once did I think I would be starting one myself for my daughter especially. :(