Hi Amy,

Sorry for taking so long to reply, as I've explained to Peter there has been a lot happening at home and finding time has been difficult.

How is Kameron doing? Has she been seen at the hospital recently?

I'm not sure there are any studies in this country at present but am going to double-check with my Immunologist in case any have been started recently.

I can relate to the aches and pains that Kameron has. They tend to become a part of your everyday life but some days are worse than others. I find tiredness is also a problem and I have to pace myself but I make sure that I go out every day even if it is for a short while. I can remember when I was at school at Kameron's age. Some days I would be fine and other days I would have to go to the sick bay. Hospital stays were quite frequent too but at that time they did not know what they were dealing with so I hope Kameron fares better on that front.

Kind regards, Carole

Hi Heni,

Thank you for your message. I am really glad that all the messages have helped you too and am pleased that you have been able to make contact with another parent. As your children are of a similar age I'm sure it will be enormously helpful for you to compare treatment options and symptoms etc.

I still have to make my final decision about the eye surgery but thank you for asking.

How is your son at the moment? Is he on any treatment?

What information have your doctors given you regarding the disease and its treatment?

Kind regards, Carole

Hi Carole
Glad to hear from you carole i thought they might have taken you in for your op.
Not doing to bad on the new drug,the drs reckon if the side effects get any worse they will have to try something else none of which sound a lot of fun.
I am glad you have a good team of drs looking after you carole it took me a long time to find some drs that i had any faith in but i must say i am very impressed with them at addenbrookes.
I like your motto, my dad always said his family one was "we bend but we never break" which i like to think i have adopted but knowing my dad it probally belongs to someone else .He liked to tell a few stories.
Have not heard much about the research myself the last i heard was they did not have the computer power to break the genetic code because it came from two different genes they think, but were hoping to start again soon that was last year when one of my drs had come back from America.
Anyway carole hope you are keeping well? Let me know how your getting on when you can.

All the Best Peter

Hi Peter,

Sorry to hear that you're having problems with the side-effects - as we know they can sometimes be as bad as the problem itself. I hope the docs can get something sorted out for you soon.

I meant to ask you if you are on any immunoglobulin therapy either sub-cut or IV? I'm on weekly therapy which I do sub-cut at home.

Also, do you have problems with venous access? Unfortunately because of the prolonged use of IV antibiotics over many years, it is now very difficult to insert venflons in to my hands and arms. I cannot have a portacath because of the risk of infection. Are you the same?

I have to say that I really liked your dad's motto, it's very appropriate.

How are you coping with the warmer weather? Although I tend to feel the cold a lot, when even I start feeling too warm then it sets off the itching even more which then becomes sore. I try to stay out of the sun now, especially since some medication I had a few years ago meant I was allergic to the sunlight (unbeknown to me) and after sitting out for half an hour I ended up in hospital with serious leg burns and a swollen trachea. They couldn't decide whether to put me on the Burns unit or the Chest ward. At the time I didn't care where I went so long as they sorted me out!!

I'm still reluctant to go for the operation but know that I am only delaying the inevitable decision.

Anyway, hope you are getting on ok - let me know how you get on with the side-effects.

Kind regards, Carole

Hi Carole
I will say a prayer for you concerning your op i would feel the same way if it was me.
Me and the girls only take oral antis for the hyper ig except when were in hospital.I dont think we suffer as much as yourself carole.I was wondering what sub-cut was?
I seemed to grow out of the skin infections in my early twenties.I always thought the sun helped especially(if i did'nt run around in it) when it was bad so much so I bought a small face sun lamp when i was a teenager, i know what you mean about getting hot and bothered it always made it worse.I feel sorry for my middle daughter Katrina her face and arms look so marked but it bothers me more than her
Was that medication that made you allergic to sunlight an anti-fungal carole? I have become very light senseitive since i have been taking them but not as severe reaction as yours.
I was wondering carole if you were able to trace the job's in your family?
As i say carole the aspergillus and the drugs controlling it seem to be giving me more problems than the job's these days.
They have been talking about giving me iv treatment for aspergillus and the hyper-ig to take at home but i am trying to avoid it till i am desparate knowing it can cause other probs like your confirming.
Thanks for keeping in touch carole.

All the Best Peter

Hi again Peter,

Good to hear from you again, I feel that the correspondence helps me a lot, it makes you feel that you're not quite so alone with it.

I'm sorry to hear your daughter Katrina has suffered scarring also - interestingly my arms are worst affected too. I just feel that it's other people's problem if they don't like it, the people who matter to me understand and don't get concerned about it. It has never stopped me making friends or getting employment. As I mentioned, the only thing that bothers me is the 24/7 itching.

The immunoglobulin I give at home is sub-cutaneous which is just under the skin rather than in to a vein. From a side-effects point of view, initially I had headaches but these have gone now and I haven't noticed anything else.

I agree with you that the sun can help. I find that if it is a "dry" heat this can be quite helpful but I find that the type of heat that makes you sweaty is very uncomfortable and irritates the skin in my joints and on my face. The other thing I find very helpful is sea air. I find that I improve generally if I am by the sea, including my skin and lungs.

The docs think that my Job's is a result of a faulty gene from each parent. I don't know of anyone else in my family with anything like it. I have a brother who doesn't have Job's but does have kidney problems which is a bit strange.

Thank you for saying a prayer for me, I appreciate that and am a believer in the power of prayer. We all have to have faith. It is said that things happen for a reason - I don't know what ours is yet but maybe one day we'll find out. I pray that a cure is found for you and your girls too.

Keep in touch and keep your chin up!

Best wishes, Carole

Hi Carole
Hope you are well? Not feeling too bad myself had an appointment friday just gone and they are pleased with me they seeem to have the aspergillus under control but my muscle pain from the drug is getting worse so they might have to try something else worse luck.
Do you find the immunoglobulin helps Carole? They have never mentioned it to me or the girls. Your dead right about being by the sea I have always thought that. Where we live hertfordshire can be very damp and i noticed a big difference in my chest when we moved up here from London.
I hope you can still have breaks and holidays when you like Carole.I know its getting harder for me to get away depending on how i feel and medication and all that.
Its amazing the faith thing I have always had it but it just seems to get stronger the older and wiser you get.
Hope to hear from you soon Carole

Good Luck Peter

Hi Peter,

Haven't been able to write for a while as so much has been going on here - it never rains but it pours!

I hope you're doing well, I was pleased to hear the aspergillus is under control but sorry to learn about the muscle pain. Has it started to improve yet? If so, what medication have they given you?

I go to the pain clinic but it is very trial and error as I seem to have so many aches and pains, and some medications work for some of the pain but not for the rest. I have been given Amitriptyline for night-time which is ok but it tends to knock me out so I can't take it if I know I have to go somewhere the next day. I know the side-effects will decrease if I take it regularly but I won't be able to stay indoors for that many days!

I am getting a lot closer to having the eye surgery now as I am aware of a deterioration. I'm still unsure about it but it will be the only option other than do nothing.

I think the immunoglobulin therapy helps but it is a little difficult to be absolutely sure because I feel that the older I have become the number of infections has decreased, so I'm not sure if that would have happened anyway. Have you mentioned the therapy to your doctors?

I have now got to go on the waiting list for surgery to the shoulder I broke when I fell - something else to look forward to!!

How do you like the hot weather? I loathe it as I itch 24/7 and I just don't know what to do with myself.

I hope things are going ok for you at the moment. As we have said before, it is helpful to have someone to discuss these things with, particularly someone who does understand what you are going through.

All the best and look forward to hearing from you,

Carole

Hi Carole
Sorry to hear you had fall Carole i hope the Drs can sort you out soon.Also i am sorry that its taken me so long to get back with a reply but i seem to have been really up and down with my chest had a couple of infections i could not seem to get rid off, i am putting it down to the funny old weather.
The hot weather doesnt bother me to much these days Carole i seemed to have grown out off my skin problems when i was about twenty
Do you get much problems with fractures Carole i have been told to look out for it? They have given us ct scans to check for thinning of the bones but it seems ok at the moment touch wood, apart from me pulling muscles and ligaments but i think thats the aspergillus drugs.
I havent mentioned the immunoglobulin therapy to the Docs but if i have another couple of months like the last two i might throw it to them and see what comes back.
I hope everythihg goes well with your treatment for your shoulder and eyes if you have anything done before i talk to next Carole.

All the best peter

Hi Peter,

I'm sorry to hear that you haven't been too well. Did you have to be admitted to hospital or were you able to cope at home? Either way it can make you feel pretty awful so I hope you're improving now. Was it the aspergillus?

I've not had the surgery yet - just biding my time at the moment! I have just had surgery for another abscess on my ear so they decided to remove some cartilage as well to try and stop it recurring. It's starting to heal now so I'm hoping it doesn't come back. I have started getting fractures in the last couple of years. I broke my shoulder (not the same one as when I fell) when I pulled the front door closed. I felt it crack and it was painful. I've had a bone density scan but that was okay - I think the fractures are just part of the condition regardless. I managed to fracture my finger going downstairs (I'm still not sure what happened).

Do you have problems with your feet? I suffer badly with inflamed tendons which makes walking quite painful. I have had a plaster cast to rest it but it has now recurred again, so looks like I may have to go back in plaster which I'm not happy about.

I would be interested to know what response you get if you mention the immunoglobulin therapy. If you do start it I hope you find it helpful for you.

Hope you're feeling better and look forward to hearing from you.

Kind regards, Carole

Hi Carole
Sorry to hear about your ear have you had to have a lot of surgery to remove your abscesses?
My eldest daughter gets quite a lot under her arm and in her groin area but they normally go themselves.
I didnt have to go to hospital with the infection Carole i wasnt that bad it was just it seemed to go on for a long time i never know which it is these days an aspergillus infection or jobs.
Funny you should mention about feet my were hurting as well they said i might have pulled some ligaments they gave me voltoral they have really helped with a lot of my muscle and nerve problems again Carole i thought they had a lot to do with the medication for the aspergillus.
Have you tried any natural remedies i used to try a lot but not so much since i have been diagnosed i read about one a few weeks ago called life mel honey from New Zealand i found it gave me a good boost it was very expensive though £40 for a weeks worth
Hope you get stable for a while Carole without too much going on hope to hear from you soon

Regards Peter

Hi Carol, and everybody,

I've received fantastic news last week: "the gene of HIES has been found"! Did you know it? It means that from now there is any hope for a better life!
Good luck for everybody,
Heni

Hello Peter and Heni,

Peter, I'm glad you didn't have to go in to hospital with your infection, I always feel it's better to stay at home if possible because we're so susceptible to the other infections it can end up being worse! I take a lot of vitamins and I did take Manuka honey for a while, but I haven't tried life mel honey. I will try it though especially as you feel it has given you a boost. Hope uour ligaments have healed ok. I am having a lot of problems with muscles, joints and ligaments at the moment but I think it is all part of the syndrome. I have acute achilles tendonitis at the moment so I have day and night splints to wear. They do help but then the pain comes back if I don't wear them. I am finding at the moment that the constant pain in my limbs is making me very tired and pain control is a problem. I did try Voltarol but because I have had perforated stomach ulcers I couldn't tolerate it as it upset my stomach.

I haven't had the cataract surgery yet but the time is getting closer. I will then have to make the final decision which I'm not looking forward to!

Peter, I hope you're doing alright at the moment, have you had the flu and/or pneumonia jabs? If so, were you ok afterwards?

Look forward to hearing from you soon,

Kind regards, Carole

Heni,

Good news at last! Let's hope a permanent cure isn't too far away. Hope all is well with you. Best wishes, Carole

Hi Carole
Sorry about the delay in replying hope everythings ok. I am doing really well at the moment carole they stopped my aspergillus drugs well some of them the Dr said she could not carry on giving them to me as they were doing me to much damage.She is going to give me iv drugs in the new year as i seem to tolerate them better but she is worried it might get resistant to them so she has to talk to a prof in Manchester.
My immunoligist told me about the stat3 gene she was very excited by the discovery.They want to see me and the girls in the new year so they can do a day of tests for research.
We all get the flu and pneumonia jabs Carole they do tend to give me flu like symptons for a couple of days what about you Carole?
Hope you have a good christmas and new year carole and heni.Let us know how your getting on.

All the Best Peter

Hi Peter,

I have been unable to keep in touch with you as my sight deteriorated very quickly from around Christmas onwards and I couldn't see well enough to read and write. However, I have FANTASTIC news!! I can see again! Thanks to my brilliant eye surgeons (whom I can never thank enough) the surgery was successful (I still feel very emotional about it even writing this). They were wonderful and took every precaution possible and now I can live my life again.

How are you doing on the IV medication? Did your doctor manage to liaise with the Prof in Manchester? How is your health at the moment?

I really hope your keeping okay - it must be nearly time for another 'flu jab! I did have one once but I was really ill after it so now I don't have them.

Look forward to hearing all your news.

Carole

Hi Carole

I am so pleased i was fearing the worst when we had not heard from you i am so glad they managed to get your eyesight back it must have been a nightmare!
Its been a funny old year carole i have been in and out of hospital a few times for iv antifungals and antibiotics i had a couple of falls which set me back a bit( broke two ribs and a bone in my hand ).Two of the girls have also been in hospital for iv antis so its been a bit of a nightmare for my wife.
They are still strugglng with my antifungal medication.They have tried me on interferon gamma medication which is not an antifungal but helps your immune system fight it, i was wondering whether you had heard of it?It has really given me a boost i think i would have been a lot worse this year without it
Again carole its so great to hear from you let us know as soon as you can about how your getting on

All the Best
Peter