Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


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The Jones Family

Stephanie JonesHi my name is Stephanie Jones. I am 31 years and am happily married with my husband Michael. I have a little boy who is none 22q he is now 6 and enjoys his school.

Stephanie JonesWe have just recently lost our baby daughter who died 4th September 2018 due to 22q digeorge syndrome which I will tell you what happened to her later on. We named her Eva-Rose. We are very devastated by the news and we are still struggling but it will take some time to heal.

I was diagnosed with digeorge syndrome at the age of 16. My parents didn't know what wrong was with me or didn't know what digeorge syndrome was. When I was a baby, I had to be taken to hospital because I was turning blue and couldn't breathe properly so the specialist said that I had a heart murmur.

When I was little, I suffered really bad leg pains and used too cry about it alot because it was very painful, doctors didn't know what to do about it. I had difficulties to walk and run.

I also had hard of hearing and was deaf in both ears. I had bout 14 operations on just my ears this includes perforating eardrum, holes in the ears and glued ears etc. I am having an operation sometime next year called the bone conductor. It's where they put the hearing aid in my skull so I can finally hear better. Specialists said that I mustn't wear my hearing aids due to frequency ear infections I am only deaf in one ear now.

I have low immune system, low blood sugar calcium, and anaemic. I have to have b12 injections to top up otherwise without them I look very pale and I faint.

I have also got a blockage on my right side of the nose and can hardly breathe. I had 2 operations on that. I had septorhinoplasty and rhinoplasty. The rhinoplasty was very serious operation as they did my soft palate at the same time.

I do struggle with my speech and can be quite hard of understanding sometimes as it's sometimes sounds nasally as if I got a cold all the time. Sometimes have to use makaton or signs to get people to understand me.

It's very difficult to breath especially at night time because I got have 3 pillows if I don't I end up choking in my sleep. The specialist said they cant operate my nose anymore because it can cause too much damage on it and I could end up with no nose at all.

I am now 31 years old and struggle with communication and walking. The doctors think my legs got to be part of the condition digeorge syndrome and there's nothing they can really do to help with the pain.

I can't walk for long distance if I do I have to use my wheelchair and I sometimes have to use my crutches for support my balance as my ears make me very unbalanced.
I recently had my baby daughter who died because of digeorge syndrome. We just found out the results. She also died from a lung condition, ours is space apart where Eva's was torn apart, she also had trouble eating and was also diagnosed with a heart condition. Which I heard it can effect alot of people with severe digeorge syndrome.

I have only got a mild one. We are very devastated. We didn't think it would cause this but specialist have been supportive towards us. I went to Bristol 22q clinic when I was about 18 and I can't remember much but I had to tubes and camera down my throat. I didn't like it very much.

I get very tired now especially in the evenings and have to have sleeping tablets to help me sleep because I struggle to sleep cos of the pain with me legs and what happened with Eva.

I don't have many friends to be honest I do but not as much. I hardly go out because I get very anxious what people say to me because I was bullied very badly at school because of my speech and now I get very bad anxiety. I do get depression but it's not as bad as it used to be.

I can not work because of my condition and because I don't like noises too much and my breathing. The noises sometimes cause me to have a panic mode because it hurts my ears too much.

In my spare time I do like to play my piano and write me own music but sometimes I struggle to write the lyrics down.

Thanks for listening to my story hope this can help alot of people and to help make awareness of 22q.
Stephanie Jones
Dec 2018