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When I was finally diagnosed as having CVID-PID, I had such a sense of relief at finally I could make a plan to cope with my condition,  and that the speculation and accusations of nothing wrong with you had an answer

Throughout my childhood

I was often under the weather and always was sick for longer than my brothers and sisters, my mother always believed that having whooping cough at six weeks of age had made me weaker and more prone to catching whatever bugs my elder siblings brought home from school, especially chest infections

However, growing into adulthood and raising my own family meant that gaining a living was paramount and even when I was incredibly tired I still went to work it has always been a family joke that as soon as I sit down to watch the TV I fall asleep. On Valentine’s Day 2011 I was in a dreadful state and unable to breathe properly the doctors had been giving me increasingly stronger antibiotics but after getting some blood tests results they became alarmed that I possibly had a blood cancer and an urgent appointment with haematology was made, I was immediately given many more blood tests, bone marrow biopsy and Octogam treatment was started, as I presented multiple symptoms I have been examined by many consultants in different areas e.g. dermatology, rheumatology  gastroenterology and finally immunology, I have undergone numerous scans and invisible testing and have seen more of my insides than I could have wished.

My family

have always supported me and my sons are always ready to help as I get exhausted easily, unfortunately my employers H R department did not believe that I was ill and made my life very awkward and miserable in the period between my collapse and diagnosis (nearly 2 years) and the stress they caused in my opinion was unforgivable

I am very appreciative of the help and support that the immunology department offer in the treatment of my PID and the extensive testing and support from the haematology department who never gave up trying to find diagnosis, we still have some way to go as we experimented with the best timing for the Octogam and which additional antibiotics I should take regularly and what  to take when I have an infection but at last even my doctors are willing to help with flu and other inoculations and blood pressure readings etc, in fact my doctors appear fascinated with all the different testing and strange results I have presented and, when they see me they use the time to have a thorough chat about what is going on, as GPs they enjoy the feedback from the consultants and team

I also thank the IDPGW for their organised lobbying and collective recognition and awareness the phenomenon of CVID, it’s possible causes, treatments and research across the world.

Andy Long

Andy Long

Personal  Case History

As a sufferer of Hereditary Angioedema (HAE) I am posting this page, detailing my own case history, as a resource for other sufferers. I hope you find it helpful.

What is Hereditary Angioedema? (taken from www.hereditaryangioedema.com)

Hereditary Angioedema (HAE) is a rare and serious genetic condition occurring in about 1/10,000 to 1/50,000 individuals. The disease is characterised by episodes of edema (swelling) in body parts, most notably the hands, feet, face, and airway passages. In addition, patients often have bouts of excruciating abdominal pain, nausea, and vomiting that is caused by swelling in the intestinal wall.

HAE patients have a defect in the gene that controls a blood protein called C1-inhibitor. The genetic defect results in production of either inadequate or nonfunctioning C1-inhibitor protein.  Normal C1-inhibitor helps to regulate the complex biochemical interactions of blood based systems involved in disease fighting, inflammatory response, and coagulation.  Because defective C1-inhibitor does not adequately perform its regulatory function, a biochemical imbalance can occur and produce unwanted peptides that induce the capillaries to release fluids into surrounding tissues, thereby causing edema. (continued at www.hereditaryangioedema.com)

Family History

HAE came to me through my mother’s side of the family. Mum was very sick all of her life and passed away in 1969 at the age of 24. Her death was caused by a swelling in her throat, unfortunately medical attention came too late. I was just five years old at the time and I then went to live with my paternal grandparents.

Unfortunately my mother’s death caused something of a rift between my mother’s family and my father’s family so I didn’t see much of my maternal family during my childhood. My grandfather was apparently a sufferer too, although he lived well into his seventies. Both he and my mum found it difficult to be taken seriously by doctors at the time. My grandfather was branded as ‘workshy’ and my mother was actually treated in a mental health hospital for some time.

Swellings In Childhood

As a child growing up I would often get swellings in my hands, feet or face. These were usually brought on by a bump or a fall and the swellings would be incredibly huge, but not at all painful. I was always told that it was ‘oedema’ and stuff like ‘Oh, your mum used to get that’ but it was never explained to me properly. I don’t think anybody really understood it back then. The doctor would give me some tablets to reduce the swelling and it would go down after a couple of days, so I never really worried about it.

Early Adulthood

As I grew into adolescence the swellings seemed to slow down. At the age of eighteen I broke my ankle and there was another huge swelling at that time, but after that it seemed to stop altogether.

When I got married in 1987 my wife, Jackie, and I discussed the condition and decided to find out more about it. Before we had any children we went for genetic counselling to find out the risks of passing on the condition to any children. We were told that the risks were basically 50/50 and as I was in very good health we decided to go ahead with our family.

My son, Joel, was born in 1990 and after a year we were able to test him for the condition and I’m very pleased to say that he came up clear.

Stomach Problems

In the early ’90′s I began to suffer from occasional chronic stomach upsets. They were excruciatingly painful and would begin with constipation and sickness, leading on to diarrhoea towards the end of the episode. At first the doctors said it was a recurrent virus, but the episodes began to get more frequent and more serious, causing me a lot of discomfort and a lot of time off work.

I began a series of tests at the local hospital, I had every test imaginable. They looked for ulcers, colitis, Crohn’s disease, cancer and anything else you can think of. All the tests kept coming up negative so eventually they decided I had Irritable Bowel Syndrome (IBS). They began to treat me for IBS but the treatment was ineffective and my health was deteriorating.

Eventually the attacks were happening approximately every two weeks! Life was becoming increasingly difficult for us as a family. Joel was still very small and couldn’t understand what was happening. Thankfully Jackie was extremely supportive through all the hard times that were to come, without that support life would have become impossible.

Hospitalisation and Diagnosis

In August of 1994 I woke in the middle of the night and was throwing up (as usual!). This time it was different as the vomit contained some blood. We called a doctor and he had me hospitalised. At last they began to take it seriously.

I was in hospital for about a month. For the first week I was on a drip and not allowed to eat anything. Lots more tests were carried out. Then one day the doctor came to see me and said that the only thing they could find wrong with me was that I had a very low level of C1 Esterase Inhibitor.

Of course I knew that I had HAE but I had just never associated it with this kind of illness before, As far as I knew it just caused my hands and feet to swell. What we discovered was that the HAE was causing my intestines to swell and that when that happened the tubes of the intestine would close up, effectively stopping the process of digestion. Hence I would get constipated and vomit because the food couldn’t pass through my system. The pain of these attacks was so bad that I almost wanted to give up and die. As the attack wore off and the swellings went down, so I would get diarrhoea as my system cleaned itself out.

My father was able to tell us that my mother used to get similar attacks before her death. It would have been helpful if he could have told us that a bit earlier but now that we all knew what we were dealing with it was up to the doctors to decide how best to treat me.

The case was not helped by the fact that whilst in hospital I contracted pneumonia and got very sick indeed. My weight dipped to seven and a half stone and I came pretty close to death at one point.

Treatment and Side Effects

The first treatment the doctors came up with involved an injection of Fresh Frozen Plasma (FFP) at the onset of an attack. This would introduce a higher level of C1 Esterase Inhibitor (C1 INH) into the bloodstream and help to bring the attack to an earlier end. This was initially quite effective, although it took some time for the treatment to work. They then discovered that they could obtain Concentrated injections of C1 INH which had been pooled from donated blood. These were very expensive and every time they gave me these injections they insisted on telling me how much they cost. Thank God for the National Health service!

These injections worked much faster than the FFP and I was soon able to go home. Over the next few months I was still getting attacks quite frequently but I was at least able to go straight to the hospital and have these injections, I could then return home within a couple of hours.

The next problem to address was to find a way to stop the attacks happening.

One thing we discovered was that the attacks seemed to be brought on by eating certain types of food. All I can tell you is that I know there are certain foods that will put me in hospital. These include very spicy foods like curry or chili, any fried or greasy food (including chips), red meat or fatty meat and a few other things. These days I eat a ridiculously healthy diet, mostly vegetarian and including lots of rice and pasta, trial and error has led me to a diet I can safely eat.

I had suggested to the doctors that they try giving me the C1 INH on a regular basis, but I was told this would not work as it would not supplement my blood properly. Their suggestion was a steroid called Stanozolol, which would help the blood to produce a higher level of C1 INH.

Initially I was put on 2.5 mg a day and this was quite effective for a while. After a couple of months I began to notice some side effects which included freaky mood swings, headaches and very greasy skin. After talking to the doctor about this the dose was reduced to 2.5 mg every other day and the side effects lessened, although I still suffer from very severe headaches quite regularly.

The attacks were now less frequent but were still occurring approximately every three months

Introduction of Tranexamic Acid

My case was transferred to the University Hospital in Cardiff and the immunologist there suggested the use of Tranexamic Acid in combination with Stanozolol. Initially I was put on a dose of 1000 mg twice a day. Over the following months we juggled with the doses and I am now taking 1500 mg twice a day and 2 mg of Stanozolol two to three times a week

Current Good Health

I’ve been following this drug regime and diet for a few years now and in general I am in very good health at the moment. I am always aware that every HAE sufferer’s case is different and that it affects people differently at different stages in their life. Hence I am always keeping an eye on myself.  Although, see the latest update below for some news!

Recent Swellings

These days I still have occassional episodes of swelling in my hands , (like this one) so I am aware that I may be beginning a new cycle of episodes. In August of 2004 I had a major abdominal attack that really caught me by surprise, it was the first attack like this for eight years. Until 2003 I had never met another sufferer, outside of my family, and all my family members who have suffered from HAE are now dead, so I have felt very alone in this. It’s good to be able to talk to other sufferers and compare notes with people from all over the world.

That’s why I put this page up, as a resource for them and hopefully to generate some more discussion and help other sufferers

If you are a sufferer or know someone who is please feel free to    e-mail me.

Throat Swelling

My HAE is pretty well under control these days and I rarely get attacks so this one caught me on the hop a bit back in 2008.

I woke up with a sore throat and I guess that probably started things off.  By lunchtime I was finding that I couldn’t swallow and could only manage a bowl of soup.  I wanted to cough but wasn’t able to and the back of my throat felt inflamed.  I wasn’t struggling to breathe at this point, but it was getting worse.  I left home for work at 2.30, but by the time I got there I had decided that it was time to go to the hospital, because breathing was now becoming a bit laboured.  I was a train driver at the time and I couldn’t take a chance on things happening once I was in charge of a train. So I told the manager when I got there that I needed to go to the hospital and one of the managers took me there.

Fortunately I had my own supply of C1 INH with me.  I always carry it with me when I go to work in case of an attack when I am too far from home and that has now proved to be the right thing to do!

Despite having the C1 and a letter from my immunologist there was still a bit of fuss about giving me the injections, but taking my own supply definitely sped things up and after about half an hour the C1 was being administered.

The A & E doctor was trying to tell me that I should have an epipen and that when she examined me she couldn’t see any swelling in the throat.  But then my immunologist and immunology nurse showed up, as we were in the same hospital at Cardiff where I am registered.  When he examined my throat the immunologist said he could see a definite swelling and that I had obviously done the right thing.

After about an hour the swelling had started to settle down.  The C1 infusion did the trick which tells me that this was indeed a HAE episode and not just an inflamed throat infection.

This was quite a scary episode for me and even more so for the misses!  I had never had a throat swelling in my life before, so I wasn’t sure what it was going to feel like.  I’ve always advised people not to take a chance with throat swellings and I’m glad that I took my own advice.  If I’d got on that train this could be a very different story today.  My mum died from a throat swelling back in 1969 so it’s always something that is in the back of my mind.

Since that time my HAE has settled back down again and I have had no major swellings, but you never know what the next day will bring.

 

Gwen Hill

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My story began nearly 20 years ago, when I was 14 years old. I had previously been a healthy, happy child with a very normal up bringing. There was nothing out of the ordinary. In May of 1995, I woke up one day very poorly. I had developed acute lung and kidney failure, and admitted to Llandough Hospital as an emergency admission. No one knew what was wrong with me, until an auto immune disease was suspected and I was given strong immunosuppression. My body’s own immune system was attacking it’s own organs. Over time, I recovered, and resumed a fairly normal life. I gave birth to three healthy babies, but after my youngest daughter Eirian was about a year old, I began to get very poorly again. I developed cyclic neutropenia, and inflammatory arthritis. I lost all immunity to everything, and I seemed to have a constant stream of infections. In 2013, my Rheumatology consultant, Dr Nash, kindly referred me to the Immunology department at UHW (University Hospital of Wales), and began a lifelong regime of Immunoglobulin Infusions (three weekly). I have met some wonderful people at this Immunology Unit, with the nurses Emily and Catrin, and the fellow patients who I share this life with. Despite not having a specific diagnosis, other than my immune system not working properly, I continue to learn more about the ‘condition’ all the time. I thank the people who so kindly treat and support me at UHW, and look forward to a life long treatment of immunoglobulin. This treatment keeps me well, and allows me to continue leading a normal life

 

Kyle Cannon’s story

live in Cardiff, Wales. From when I was as young as I can remember, I used to get chest infections all the time and no one knew why. I used to see my GP, but he never knew what was wrong with me.I was admitted to hospital about a year ago, with a bad chest infection, and the doctors found out that I had very low levels of igg. I was referred to see an immunology specialist, at the university hospital of Wales. I’m now on three weekly IVIG infusions, which I’ll have to chance for the rest of my life, to help me fight infection. I’m only 21, and don’t know why my immune system doesn’t work properly, but I’m glad I’m on the right treatment now.

Enid Davies

my name is enid, i live in briton ferry neath. i have been a sufferer of this since i was 30. my dad had all the symtoms but years ago they never knew about this illness so because he had one lung they assumed his swellings because of this, he died aged 52 with a massive heart attack, my youngest sister started having these symtoms in her twenty,s followed by myself then my youngest daughter was having them by the age of 13, eventually thirteen in my family had it. unfortuntly my elder sisters son died at the age of 32. he went to bed with toothache and his tongue swelled up in his sleep and choked him. then his mum my eldest sister died the same way two years later. i have all the classic symtoms severe swellings of the arms legs, but mostly the facial area this is a frightening time when the face is up because it makes you wonder if you are going to be nexti also get the diareha cramps and sickness which is very painful. i have had various medication and i am now on berinert 500 iu. and have found this to work. this illness can come on at any time through a bang a cut, and in my exsperiance have had a lot of attacks due to stress related . i found my only son dead two years ago with a cerebial brain hemmorage and that night i was rushed in with facial swellings due to the shock he was 37 i have since been in and out of hospital every month mainly with facial swellings i am 64 and been like this for 34 years it seems my gene is getting stronger every day.

Mostyn  Carthew

was about 9 months old when it was discovered he had the rare condition XLA after he had been ill with several illnesses which the doctors felt was rather unusual.  For approximately 18 months he was treated with immunoglobulin  at the paediatric ward at Morriston Hospital.  This was distressing for both Mostyn and his parents (Laura and Richard Carthew) but eventually they were shown how to administer the immunoglobulin to Mostyn at home.  As you can imagine this is still upsetting to a child so young. Mostyn will be 4 at the end of March.  However, he appears to be a happy and healthy child and loves all the things other 3 year old little boys like to do.

Best wishes

Marian

 

Tommy Browne 

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My Infancy

When I was born I was premature, within the first few weeks it was not looking to good I had developed pneumonia,   I was in hospital for a long time. As a child I was sick all the time, I could never sleep with a pillow as this would cause  nose bleeds.  I also suffered with chronic sinusitis .

My Junior Years

Before the age of eight I developed another bout of pneumonia. After another stay in hospital I was given iron tablets which did help with my energy levels, and I started to get stronger, but still caught colds and flu, if there was a virus about I would catch it, the doctors prescribed that I eat liver every day and still take the iron tablets and cod liver oil, I drank half a bottle of cod liver oil every week and malt extract, and ate pigs liver every day. I noticed every time I would reach a certain weight, I would get the flu, thinking back I think my body just could not cope with the extra few pounds I was gaining I was very thin for my age, family doctors did not know what was the matter with me and prescribed it as Pernicious Anaemia           http://www.nhs.uk/conditions/anaemia-vitamin-b12-and-folate-deficiency/Pages/Introduction.aspx

Teenager

At the age of 14 one consultant prescribed these little red tablets I never found out what they were but thinking back they were referred to as blood tablets. I had energy I never knew before.

Now I felt great, I won the school cross country trials, I ran cross country for Cardiff Schools and Cardiff Youth Glamorgan and Wales. I also ran for Wales senior cross country team while I was still in school. I started boxing although a lot stronger I still didn’t have those energy levels required, after 3 rounds of boxing I thought my head was going to explode so that had to go on the back burner for now.   I was still getting colds and flu and every time my weight picked up or my fitness levels, I was sick again it was so frustrating. I know some doctors just did not believe me when I gave them my symptoms painful joints, numbness in my fingers legs and toes, nose bleeds very tired and indigestion  cramps and sinusitis, there was lots of things I could not eat or drink that were good for me like fish or pork or I could not drink anything to cold or to hot , I would be sick, they just did not understand what was the matter with me, or did anybody else including me. In 1979 I was feeling very ill I was forcing myself to go to work a steel fixer a very hard manual job, I had painful hands, fingers and other joints and still had the nose bleeds, I was sick on the way to work whilst in work, and on the way home, I don’t know how I got through those days.

One day after being sick all day in work, I got home in the evening and my nose started bleeding again, but this time it didn’t stop, I collapsed and an ambulance was called I was rushed to Newtown Hospital in Powys Wales, they put packing in my nose to stop the bleeding and was treated there for 3 days. I was in and out of consciousness, I was then rushed to Bronglais Hospital in Aberystwyth and spent a lot of time in intensive care, and remember a priest standing over me giving me the last rights with my family around me. I remember somebody saying my body was not taking the blood transfusion and it was not looking good, I remember looking up and seeing the transfusion bag and thinking to myself I must except I must make my body do this I think I was calling on all the will power I had left, what people say about heading towards a bright peaceful light is true, but I knew I must not go that way I had to come back. The medical staff at Bronglais Hospital were amazing, they started giving me injections of B12 and I responded very quickly. After a few weeks I was getting stronger, I had to learn to walk again, outside my room in the hospital there was a flight of stairs, so when nobody was around I would go and walk a few steps then go and sleep for hours, wake up and have another go. I gradually got stronger and went home, I would go for short walks then sleep again. I had to go to the doctors once a month for a B12 injection, which was to become a permanent thing for the rest of my life.

Recovery

I was determent to get better, I started walking then running then boxing again I felt stronger and fitter, I boxed all over Wales for Newtown, Powys boxing club. I kept up my running and used to get dropped off in Welshpool and run back to Newtown which was a fourteen mile run, I also went on to run the Birmingham marathon 26 miles.

I moved back to Cardiff and rejoined the Highfields boxing club had another load of fights and I also fought for Wales in 1983. And had changed my career at least 3 times to make copping with my illness easier, It was about this time I could feel myself catching colds and flu again, the same old symptoms, with   lots of antibiotics 3 or 4 times a year and regular visits to the doctor.

Referral to consultants

I was referred to Doctor Nash of  Llandough  Hospital to see if I had arthritis in my joints, after another load of tests this condition was ruled out, I felt so weak and so ill all the time I think the only thing that was keeping me going was the B12 injections that I had been having every month since 1979, then Dr Nash asked me had my fingers always been this really pinkish colour, he referred me for tests with Consultant Stephen Jollies at the University Hospital of Wales Cardiff, I remember going back to Dr Nashs clinic and he said we have turned up some interesting results on you, we have discovered your immune system is very low on a scale of 1 to 10 yours is 1. I thought at last they can see I am not just putting this on, I will be grateful to Dr Nash for the rest of my life an amazing chap it had taken 54 years to get a diagnosis.

Dr Nash  Thank You.

Diagnosis

My next appointment was at the Immunology Clinic University Hospital of Wales with Dr Stephen Jollies, another Consultant I am eternally greatful to. After more blood tests, I was diagnosed with a rare congenital condition Hypergammaglobulinemia Please See videos in the drop down menus for more information.

I now have plasma infusions every three weeks and antibiotics 3 times a week for the rest of my life. Also I have other antibiotics to take for 14 days if I get a break through infection. I would also like to thank the specialists nurses  Emily Carne,  Katrin Morris, and Clare Kingdan, Charis Joyce in the Immunology clinic at the University Hospital of Wales, for there specialist treatment and constant support.  I have been having treatment now for the last five years , without i am sure i would not be telling my story. I am always ready to listen or help in anyway i can.  My philosophy is if you take something out,  give something back.  We need all the help we can get, and we give all the help we can, Please support the Immune  Deficiency Patient Group Wales

Donation Page

Tommy Browne   Contact  Page  Idpgwales  

 

 

 

By Ilana Jaqueline, Special to Everyday Health

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Did you know that, on average, it takes about seven years to get a correct diagnosis for a rare disease in the United States? Most of the time we don’t even know what we’re looking for, only that we haven’t found it yet. Continuing on our diagnostic journey when so many roadblocks clutter the way can be gut-wrenching. Ditto knowing you have pieces of the puzzle that don’t make a complete picture. Though I’ve been fortunate to find the support and guidance I needed, a few years ago my outlook was bleak.

But let’s rewind a bit.

I was born jaundiced but healthy, had allergies to everything my mother tried to feed me, and was a magnet for infections all throughout elementary school: caught pneumonia when I was seven; had chronic asthma and bronchitis ever since. I mourned the loss of food groups as they slowly became inedible — dairy, fruit, vegetables, whole-grains.

I spent a lot of time seeing specialists in an attempt to understand what was happening to my body. I spent hours with rheumatologists when I was a kid and had problems with my joints. Then I regularly saw pulmonologists and allergists for the asthma and allergies. I had been having endoscopies and colonoscopies yearly since I was fourteen.  Even though we could see that there were problems, no one seemed able to piece together the entire puzzle.

As I got older my doctors would tell me that this was more of an emotional problem. That I was seeking out attention or having anxiety. Suffice it to say, this felt like a waste of my time, not to mention insulting.

During my senior year of high school I caught mono. It was a year of sleepwalking where I could only attend school for an hour a day to collect my assignments and then drive myself back home. Once I blacked out while driving and pulled into a Pier One parking lot where I called my mother, terrified, and feeling like my heart was going to burst out of my chest.

That week we went to see a cardiologist, and I wore a holter monitor for seven days, but we learned nothing from the results. Slowly I started to gain some energy back, but from that year forward fatigue became a daily part of my life.

I graduated half-heartedly. My health had deteriorated so drastically that there was no chance of me going away to school. I had become more dependent on my parents and boyfriend than ever before.

I was determined not to live the rest of my life as sick as I had always been. So immediately after the last day of school, I started seeing every doctor I possibly could. Some told me my symptoms were too multiple and complex to be connected. Others just shrugged, pushing me off to the next department and weakening my resolve that we would ever find an answer.

I was nineteen years old when the shoe finally dropped. I developed a barking cough, had completely run out of “safe” foods, and was now living on a liquid diet.

My mother and step-father took me to see an infectious disease doctor from out of town. He spent twenty minutes with me and, to my total shock, said the words I never thought I’d hear: “I think I know exactly what’s wrong with you.”

He took several blood tests and a few days later called us back to his office. When we arrived he was on the phone with the hospital across the street. He turned us around, pointed us in the direction of the hospital, and said I needed to go there immediately to start treatment for Hypogammaglobulinanemia, a Primary Immune Deficiency Disease.  It was a simple blood test he’d done: one that’s usually done at birth in some states as part of the Newborn Screening Panel.

After doing my research, I saw how easily so many of my symptoms matched up and how quickly a thorough doctor could have figured it out and done the test.

I was furious.

So much of my time and energy and sanity had been wasted, wondering if there was something wrong with the way I dealt with my life. So much confusion and concern had been wasted, wondering whether I was just weaker than everyone else or just somehow less capable of handling the normal stresses of life.

The diagnosis explained a huge amount of my symptoms including the constant infections and inability to recover with just a few courses of antibiotics. My immune system was missing some pretty key components to fighting off colds.

It was a huge relief to finally have an answer, but more importantly, that moment gave me the confidence to trust that I know my body better than anyone else.  Finding that first diagnosis helped me to have the confidence to pursue more answers. Since then, I’ve uncovered even more pieces of the puzzle, including an adhesion disease, Gastroparesis, Postural Orthostatic Tachycardia Syndrome/Inappropriate Sinus Tachycardia and Hypersomnia.

But life doesn’t stop for rare disease or chronic illness. So these days I help out by giving other patients advice on how to build and maintain normal and sustainable lives, despite their illness. My blog is home to my thoughts on dating and relationships with a chronic illness, advice on how to advocate for yourself with doctors and while in the hospital, and tips on managing your career with unavoidable health interruptions.

Ilana Jacqueline is the Managing Editor of the blog and patient community at The Global Genes Project. As a rare disease patient and a patient advocate, she is personally invested in the fight to raise awareness for cures, treatment options and faster and more affordable diagnostic tools. She has worked as a freelance writer for the past ten years, contributing articles on everything from health and wellness to celebrities and beauty for publications such as Cosmopolitan, The Huffington Post and IG Living Magazine. Her blog, www.letsfeelbetter.com, is a personal collection of anecdotes about dealing with love, life and career with chronic illness.

Read more stories of struggle, strength, and survival on Everyday Health’s My Health Story column.

 

Resource

From Wikipedia, the free encyclopedia

 

http://livingwithcvid.hubpages.com/hub/Living-with-CVID

 

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Living with CVID» Health

by Living with CVID 8 Followers Living with CVID (hypogammaglobulinemia) Helpful Hints Required Equipment Viva-globulin (I call it “B-juice”), syringe, needle, tubing and control tubes, pump, handy carrying case. Viva-globulin (I call it “B-juice”), syringe, needle, tubing and control tubes, pump, handy carrying case. Illness and Diagnosis

I am creating this blog to help other’s who have been diagnosed with CVID. There does not seem to be much information out there that is helpful. The doctor also has limited anecdotal information to help with the side-effects or help mitigate the impact of living without one branch of your immune fighting system.

Hopefully this is helpful to others. Your comments are welcome and appreciated as all of us suffering from this and are searching for the switch to reactivate our B-cell immune system.

There is hope. My doctor reports he has one well-documented case where the male patient’s immune system turned back on. So that gives us all hope and purpose to keep searching. My guess is that all of us have different reasons that our immune system failed. So this is a personal journey. However if enough people provide their input, we might find some common linkages that point to solving our system’s trigger.

Diagnosis Year 2002: Short History

I was diagnosed the year of my 40th Birthday. That year, I was routinely sick from infections, mostly pneumonia. I also had severe ear infections whereas one led to Bells Palsy. Each of these episodes would require trip to doctor and antibiotics.

I was getting sick over silly things. I would work in the yard for 2-hours and then have a 104F fever for next two days. I taught Sunday school and if one kid had a cold, I would get a fever within hours. On vacation at beach, ocean water entered my ear canal. That lead to a horrible ear infection. The ear infection ballooned into Bells Palsy – inflammation of the cranial nerve VII leading to paralysis of ½ of the face. I was like the Joker on Batman…only ½ of my face could make expressions. I could not pucker my lips; speaking certain words was also difficult, only half of my tongue could taste and my eye would not shut when I slept requiring me to tape it close at night. It was a wild experience. The doctor started me immediately on a steroid which reduced the long term impact and helped me fully recover over the next 4-6 weeks. Today, some ear pain still lingers and my right eye lid does not completely close when I sleep, but this is all minor.

I believed I was allergic to something in the mulch or yard. I made appointment with Allergist who was also Immunologist. He gave me vaccine for pneumonia, a battery of allergy tests (all negative) and asked for me to have blood sample drawn at local lab. Completed the blood draw same day (Friday). On Saturday, Dr called me and blurted out the dreaded words: “Acquired hypogammaglobulinemia.” He said I did not make any antibodies to the vaccine. One branch of my immune system was basically “turned-off” – the bacteria fighting branch of the portion that makes B-cells.

He said I must begin treatment immediately or risk sepsis (bacterial infection of the blood) which is almost certain death. Intravenous Method

First Treatment Method: Intravenous Method (sorry no pictures of the equipment)

This method is where highly diluted immune globulins are main lined directly into the vein. For intravenous infusion of human blood product, the treatment required a nurse to administer. Good thing. I traveled through the list of reported reactions like a text book. The worse of these was the deep bone shakes (like uncontrollable chills) in addition to extreme back spasms. I would try to relax into the chills in order to prevent the spasms from taking place. It is a horrible place to be.

Type of Human Immune Globulin: GammaGuard by Baxter.

Years using this method: 6-years

Pros of this method:

1) Infusions are 1x per month. Take about 3-5 hours.

2) Allows you to travel and not be a slave to weekly B-juice infusions

3) First few weeks, you are “hot” with immune fighting cells. However see “cons” of this as well.

4) Day after import, you feel great, strong – almost like superman. I exercise regularly and after infusion, I am always strong, faster and have more endurance. Maybe it is the liquid. Either way, I always liked the boost.

Cons of this method:

1) Risk of extreme reactions during monthly infusions (as outlined above)

2) Dealing with “peaks and valleys” with immune fighting cells are physically noticeable.

3) Discovered I encountered fatigue and more susceptible to infection when nearing the end of monthly infusion.

4) Veins are stressed out during infusion. Very painful at site of infusion. You have to find a large vein that can handle the amount of liquid pushed into the vein over 4-hours. I tried many different sites. Finally settled on major artery on forearm (see picture). I tried hand and wrist. The arm was a reliable artery that I used for years after discovering it.

5) After infusion, I experienced extreme moodiness. I am a very easy going person, but after GammaGuard infusion, I was very irritable and noise sensitive. Family beware – dog as well.

6) It is a great deal of drama. You have to schedule a nurse to administer; it takes 3-5 hours depending on seriousness of reactions; my nurse became a good friend, but if you get stuck with someone you do not like, it can be a long “visit” every 30-days.

Helpful Hints using GammaGuard Intravenous Infusion:

To minimize the reactions from intravenous infusions, I learned a few tricks during that period for those using this method. Hope this is helpful.

  1. Take Benadryl one hour before infusion and one more tablet immediately before infusion.
  2. Take one Tylenol immediately before infusion.
  3. The nurse’s protocol was to slowly increase the pump’s flow rate every 15-mintues after taking blood pressure and pulse up to a top speed of 200ml/hr.
  4. To minimize extreme physical reactions, at one hour into infusion, stop the pump. No matter if no reactions were manifesting, stop the pump for 15-minutes and allow body to rest. I only have theory for this, but it seemed like it gave my existing imported immune system time to either be overwhelmed by the new – think “new sheriff is in town”; or time for the previous existing B-cells and the new B-dells to accept the presence of the other (think of this as getting to know each other as “safe” ). In my experience, it is always best to prevent the reactions from manifesting versus letting them develop even if just barely perceptible.
  5. Sometimes, I experienced ZERO reactions. I cannot explain this. It appeared to be totally random.

I experimented with many other methods and meds to minimize the reactions. For example, I injected Benadryl (prescription required). This knocked me out, but did not stop the bone chills or spasm. At one hour, I would jump from couch and suffer the reactions.

More Tylenol, more oral Benadryl: increasing these over the counter meds did not prove to be more effective. So I kept to a minimum – no sense taking something that you do not need. Intravenous entry point This is the vein I used for a few years. It was big enough to handle the “push of liquid” and did not show any signs of deterioration from use. This is the vein I used for a few years. It was big enough to handle the “push of liquid” and did not show any signs of deterioration from use. Subcutanous Method

Subcutaneous Human Immune Globulin Method:

This method involves injecting into fat tissue (subcutaneous) at multiple sites. The idea is that immune globulins once in the fat tissue will absorb into the body and perform as expected. This is my preferred method now. Only one company is FDA approved for this method.

[the pictures above show the equipment and vials of human immune globulin].

Type of Human Immune Globulin: VivaGlobulin by CSL Behring.

Years using this method: 2+ years (and continuing today)

Helpful Hints on this:

Pros using this method:

1) No “peaks and valleys”

2) No mood swings after weekly infusion

Cons:

1) It takes about 1-hour, 1x every 7-days or more often depending on your doctor’s orders.

2) I don’t know, but sticking yourself or having someone else stick you at multiple sites (I request 6) is something that is psychologically difficult to look forward to each week. It is kind of a drag. I have made Sunday my infusion day. I do it in the morning.

3) You need weekly injections. So if you travel longer than 7-days, you need to make arrangements. I understand Behring is working on a shelf stable version which does not require refrigeration. I will try that, but I worry about the preservative that must be used to keep the B-cells viable. Usually preservatives and I do not mix well.

4) Painful “quarters” at site of infusion where the B-juice is injected in large quantities under tinto the fat. When removing, some will bleed and seep fluids. But within hours, all is well. You might feel the quarters on the hind side when sitting. These quarters only last for 24-hours or less. Then all is well.

Tubing, already primed ready for inserting into skin. Tubing, already primed ready for inserting into skin. Size of needles (I call B-stingers). Size of needles (I call B-stingers). Syringe loaded and inserted into Pump. Needles are already inserted into fat tissue in 6-sites (I prefer 6 as it spreads the B-juice around and limits the size of liquid at the insertion point). Syringe loaded and inserted into Pump. Needles are already inserted into fat tissue in 6-sites (I prefer 6 as it spreads the B-juice around and limits the size of liquid at the insertion point). Ready to go…handy carrying case that makes all of this portable. But what they don’t tell you is that you have 6-tubes running from various places out of your clothes. So it’s not like you are going to the mall or something. Only good for around Ready to go…handy carrying case that makes all of this portable. But what they don’t tell you is that you have 6-tubes running from various places out of your clothes. So it’s not like you are going to the mall or something. Only good for around Managing without B-Cells

Managing without B-Cells:

Living with a missing branch of your immune system is challenging. Here are some things I have learned along the way that may be helpful. The challenge is to avoid bacteria, at least the bad ones.

1) Two-thirds of your immune system is dedicated to your digestive system. So be careful what you eat. I find that salads often cause diarrhea for me. It is important for the lettuce to be handled properly to limit bacteria growth.

2) Freshly cut fruit is fine, but avoid buffet service. The fruit has been given sufficient time to grow bacteria.

3) If in doubt of food handling, only eat foods that are well cooked. This includes meat. Medium-well is best for me.

4) I always carry Purell hand sanitizer with me. I avoid surfaces that have public traffic (door handles, knobs, etc). However, with having hand sanitizer handy, I don’ make a big deal out of this. Being aware of “when” you touch something is the secret. Then simply squirt a drop or two of Purell into your hand and all is good again.

5) I travel extensively without any issues. I have been in some dirty cities throughout Mexico, Thailand and China. So I don’t let the deficiency curtail my lifestyle.

When checking into hotels, I immediately sanitize the common areas with a special sanitizing cloth. I purchased this from a medical supply retailer [picture]. One wipe and everything is sanitized. Be sure to include toilet flush handle, remote control, phone, TV controls, all door knobs and light switches, including bedside lamps. I also wipe the desk chair seat and back. I just don’t trust what people do in those chairs. I think I would do this with a perfectly intact immune system. Sanitzing Wipes Sanitizing Wipes Sanitizing Wipes

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Follow (14)Comments 153 comments Go to last comment

Robin 3 years ago

Nice to know I have company in my world. Well said.

Judy 2 years ago

Just tried my first infusion. So many side effects, they stopped before I received even a third dose. How do you afford the cost of treatments?

Torii 2 years ago

I’m 12 years old & i’ve been diagnosed with hypogammaglobulinemia & its been hard. Any tips to help me through this?

mel 2 years ago

my old son started introgam infusions at 2 years old for cvid he had them for 4 years with heaps of simptoms now he has weekley sub cut at home for 6 months and the change in hes health is execlent no more antibodics and has not been to the dr in 6 months i recomend anybody who can try sub cut if you can

kelly 2 years ago

my daughter has been in and out of the hospital since she was 6 months old. she wasnt diagnosted untill she was 2 years old. we tried the once a month 4 hour treatment at the hospital and it was awful. she screamed the etire 4 hours. since then we used viva globin which has been amazing. she dosnt mind the weekly infusions. i use lidocaine cream and it makes the experiance nearly painless. weve been infection and hospital free for over a year now since we started treatment.

mark 2 years ago

have you gone to the Immune Deficiency Foundation website? You can find hundreds of fellow patients with primary immune deficiencies. primaryimmune.org. I have been on monthly IViG for over 30 years.

Your comment, “My doctor reports he has one well-documented case where the male patient’s immune system turned back on” defies common sense. I would be very curious to learn more about the “well-documented” case. I have never heard of any case where the patient had been properly diagnosed. If yo have CVID, your body has no way of making IgG. Saying that someones immune system turned back on would be like saying that a patients who had an limb amputated, suddenly regrew the limb. That is not a logical possibility.

If I have any advise for you, it would to be sure you are being treated by an immunologist who has had a specific fellowship in immunology. My experience from being a peer volunteer with the IDF is patients have far better outcomes when treated by a trained immunologist. Many allergists try to treat patients with primary immune diseases even though they have little or no experience in this very complex condition.

Good luck,

Tamara 2 years ago

Thank you for writing out this article. I especially like your perception of everything that is involved. I’m interested in learning more about this new therapy. I was diagnosed with CVID several months ago after years of battling various infections and several different hospitalizations for infections including, recently, Osteomyelitis. My experiences are very similar to yours. I will check with my Immunologist about the new therapy at my next appointment. He is very experienced with this illness and has been researching and treating it for over 21 years. He’s a really nice doctor, too. For now, however, I will just continue with the monthly IV/Ig infusion. Thankfully I have not had any bad side effects with the exception of tight breathing and sleepiness only during the time of the infusion. I also have a very nice nurse for which I’m grateful. Thank you to all the commenters who shared their experiences as well. It’s nice to know you’re not the only one.

Jeannine 2 years ago

I was diagnosed with CVID 2 years ago and receive Igg infusions every 3 weeks are my local hospital. I found that having the pharmacy take my Igg out of refrigeration prior to my infusions helps to eliminate much of my bone chilling shakes. I also bring my own fleece blanket and pillow and use my infusion time to catch up on some much needed rest. I had a port put in a few months ago, which helps eliminate painful infusion sites. The nurses often had difficulty finding big enough veins. The port takes the guess work out of finding a good vein. I find that I get really tired just before my treatments too. It is good to know there are others out there that are going through the same thing as me. Sometimes I feel very lonely.

matthew Seabourne 2 years ago

Hi I am a BA(hon) product design student from the UK and I have been asked to design a mobile medical device for a Royal Society of art Student design Award 2011/12. The reason I am writing is that I have a Grandmother with CVID she has had it for about 25 years.

I am looking at redesign the home portable pump system as my grandmother had this system for a short period of time. The system was slightly different for the on that you have posted on your blog. What ime asking is if you could if it not to much of a inconvenience for you is to Emile me on my personal email address describing the advantages and disadvantages of using the home portable system and what your ideas for a smaller more portable and discreet system. This information would help me to identify the problems and give an idea of where to improve.

Thank you for taking your time to read this blog entry

My email address is matthew.seabourne@hotmail.co.uk

Karen H 2 years ago

I was diagnosed with CVID 8 years ago. I agree with “Mark” that it is imperative to see an experienced Immunologist. I feel extremely fortunate that I have excellent insurance and had a second opinion with Dr. John “Jack” Routes who is now at Wisconsin Children’s Hosp. and Medical School of Wisconsin in Milwaukee. He is brilliant and and an Internal Medicine / immunology specialist. It was a little odd going to a children’s hospital as an adult but I started with Dr Routes at National Jewish in Denver. He is AMAZING. Also, getting involved with the Immune Deficiency Foundation is very helpful. They have wonderful meetings and scholarships are available. You are not alone with this disease. It feels like it sometimes, because let’s face it, right now, the only clinically proven treatment is IVIG.

I have used many different brands. Bringing the medicine to room temp is very helpful. I also like to wrap my arm loosely with a heating pad during infusion. I would STRONGLY caution anyone against a port. Because we are at risk of infection and the treatment is lifelong a port is inadvisable in ALL literature. It sounds wonderfully convenient and every nurse you see will ask you “why don’t you have a port” and sometimes insist “you must get a port”. You ask an Immunologist who is experienced and they will tell you NO. I’m not an easy stick. My record is 11 sticks for an infusion. That was with a butterfly needle. Make sure you request someone experienced in IV. YOU are the patient, the valuable customer. Never settle for sub par health care. The squeaky wheel gets the grease. I am now using Gammaguard. It has lower levels of IgA which can cause side effects. I have suffered from excruciating back pain and headaches post dose. It sucks to be miserable. I used the sub cutaneous vivaglobin for 6 months. I feel that once a week is 4 times worse than once a month. I think I mentioned it sucks to be miserable. Pretreating with benadryl and Tylenol is helpful. Hydration is essential, as is positive thinking. The goal is to maintain high levels of IgG to ward off all manners of infection. bacterial, viral and worst case, cancer. Be vigilant, it’s great to eat healthy, but only IgG supplementation is proven to work in our disease.

I wish everyone good health.

Brittany 2 years ago

Great to hear other people are living normal lives with CVID! I never used IV, my Dr. put me straight on Vivaglobin and then I’ve been on Hizentra for what seems like a year with not much problems. I hate infusion day!! I do mine on Sunday as well. My infusion sites swell up the size of golf balls, I am finding less areas to infuse as I’m getting scar tissue so make sure you massage the area good. Have a good day!

Brittany 2 years ago

To Karen:

I would think doing home sub-q infusions would be better since you are a hard stick. I am also a very hard stick but my Dr. told me that doing the infusions at home once a week will keep my levels more balanced. When you infuse a huge dose once a month, by time you go back in for your next dose, your levels are seriously depleted and you are at more risk for getting an infection and sick. So the sub-q won’t allow you to have any dips, therefore less chance of getting sick!

Marian 22 months ago

Diagnosed with CVID 2005. Currently on Gammaplex but was on Vigam. Get less side effects but seem to be getting more infections. Also getting hassled by employer as a result! Agree about the port – doesn’t add up to risk infection that way, also risk of scarring.

Lea 22 months ago

Glad to finally find others who are in the same boat. I’m doing 125 mL of liquid GammaGard subcutaneously-and I have the dose split into a smaller dose so I can infuse it myself twice a week to have less of a site reaction. I went 3 mos without getting sick… and now I have a nasty cold. I can’t tell if it’s working or not because I have yet to truly feel a difference.

lis 21 months ago

Hi! I was diagnoed almost 3 years ago. I did ivig for about a year. now im doing it subcutaneously every week. I do feel alot better after recieving help. however i still never really feel good. im so tired of different meds. I just wish i could have the energy everyone else has.

Brian 21 months ago

Hi. I was Diagnosed about a year ago. I was diagnosed in large part because I told my doctor that my Uncle had this, and I was getting sick an unbelievable number of times a year. I’m a chef, and for YEARS I worked LONG hours and 6 day work weeks and never had an issue. Suddenly, I turned 30, we had a baby and I was always getting sick.

At first I was on the IVIG. It gave me awful headaches worse than migraines which seemed to never go away no matter how much water I drank. And I would find that the week before my next dose I was feeling really sluggish. And the fact that you need to clear your schedule for a 6 hour nurse visit wasn’t really jiving with me. So I switched to Hizentra. The first 2 weeks with the nurse were ok, but I later got the impression he had NO idea what he was doing. Everything I was taught was different in the video I watched on the Hizentra website. After my wife and I figured out how to handle this the right way, its been pretty good for the most part. I dont get sick nearly as often, I can do it on my own time (which is typically Friday Nights) and I dont get as bad of headaches, though they are there once in a while. I get a few site reactions, and some swelling, but I’ve learned this is a part of the procedure. The finality of it is hitting me, that chances are I will need to do this forever. And I’m ok with that.

I will say, that my entire life I have never really had great energy, and never felt that great. I rarely wake up and feel good. Its usually a chore to get out of bed at 5:30AM for work and get my day started. I find that currently, at 33 years old, I am having more aches and pains in my ankles and knees and wrists than I probably should. Muscles ache and I find it difficult to get motivated to work out, but I try. My biggest problem really is stomach issues. Not sure how many of you have it too, according to websites it is pretty common. My stomach is always feeling something. Swelling, discomfort, fullness, bloating, cramping, burning, nasuea. I have stopped drinking even, completely (save for a RARE beer) due to its affect on my stomach. Going to see the gastro again next week. Hopefully they have some answers. I wish all of you well and I hope something else comes along to help us all out even more at some point.

Shannon 21 months ago

Hi. Wow, it’s been really enlightening reading all your posts. I turned 39 last month. Looking back, and doing a medical history with so many physicians recently, I have really been sick. A lot.

Pneumonia and febrile seizures as a young child, asthma growing up, GI bleed after an appendectomy in 1990, pulmonary emboli (blood clots in my lungs) after my first baby in 1993, gestational diabetes with both my kids, hysterectomy due to endometrosis in 2005, diagnosed with eosinophillic pneumonia in 2005, diagnosed between 2005 and 2010 with a “poorly diagnosed systemic illness”. My rheumatologist at the time was basically chasing lab numbers. I never felt “bad” and in fact finished my BSN degree while also working parttime. The only problem I was having was recurrent pneumonia. I was in the hospital 8 times in 4 years with pneumonia.

In August 2010, I had my first “joint” flare EVER. My knees were so bad, I couldn’t bend them, my wrists were swollen and red as were my ankles. I had a weird rash on my lower legs. My kids and I had just moved from NE to KS and I hadn’t yet started seeing a rheumatologist here. Within a couple weeks, I had an appoitment with my now rheumatologist. He walked into the exam room, wasn’t in there 30 seconds and said “you need to be admitted into the hospital, NOW.” I didn’t argue, as I felt like death.

He referred me to National Jewish Health and after 6 months of arguing and banter with my worthless insurance company, I had my first appointment. I was told, at my first week of appointments, in February 2011, that I was a “complicated” case.

Now, a year later, I’m laying in a hotel room in Denver, CO talking to you fine folks. After a year of multiple blood draws, CT scans, xrays, bronchoscopies, a prior VATS in 2005, and a grand total of 22 bouts of pneumonia to date (over half with hospitalizations, most recent January, 2012), Dr Solomon, whom I LOVE, said “CVID”, and then confirmed his suspicion with a colleague. My CT scan today was horrible. My left lung was completely whited out with infection.

I have had IVIG twice before, as an inpatient. I never had any of the side effects mentioned above. I am going to start getting them monthly. Hopefully, sans side effect. It does make sense tho, about doing it weekly SQ as opposed to once a month with a big dose. I’d think more of a constant level would be beneficial.

Anyhow, good luck to you all.

nurse katherine 20 months ago

I also am an R.N. with cvid. I infuse the Igg subcutaneously. I have found that I experience less side effects compared to administering intravenously. The fatigue comes on me unexpectantly sometimes but I have followed a healthy diet with fresh fruits and vegetables and vitamin supplements. This regime seems to help. I am in a cleaner unit of the hospital but continue to work. I feel I am contributing by still working. To the 12 year old that posted here….keep taking care of yourself and follow your dreams. All things are possible.

Kaite 20 months ago

Hi. Im new at this- on Gammagard subq since early December. The massive infection finally cleared up recently. Fatigued still, though some days I’m more energetic than others. Can i expect the fatigue to improve?

I self-infuse 1x week, which I prefer (autonomy) and keep gratitude for finally having an answer to years of respiratory infections. Any day that I can breathe freely and/or do not have a doctor’s appointment is a good day. I’m also working with a German doctor with homeopathy and nutrition.

Kristopher 20 months ago

Hi there,

Thanks for posting information about this. I too have CVID and was diagnosed in 2009 at the age of 34. While you have great information, your doctor misinformed you when he told you the disease is “acquired.” CVID is a primary immunodeficiency, which means you were born with it. It, as all research points out (I was treated at the Mayo in Minnesota), cannot be acquired. That terms is used for different types of immunodeficiency diseases.

Thanks so much for being out there with your story!

K

G 20 months ago