Some South African patients
Some South African patients
Gabrielle Rosario (Autosomal Recessive Hyper IgM)
Gabrielle is now thirty and is currently working for a magazine company in Cape Town. She was first diagnosed at the age of three. She had experienced recurrent middle ear infection (otitis media) from the age of 15 months and had her first of twenty six operations at 18 months. This was for the removal of adenoids, tonsils and the insertion of her first of fourteen sets of grommets. All subsequent operations have been fairly minor procedures but all involving a general anaesthetic. She was started on three grams monthly of Polygam by an intravenous drip in 1989 and now receives thirty grams a month. The procedure takes in the region of six hours and she does it herself IViG at home. Gabrielle leads a full and normal life, she is a graduate from the University of Cape Town with a post-graduate diploma in marketing and manages her situation without prejudice to her work.
Help for us really started with the Internet in 1995. We corresponded with the PiA, IPOPI and also the SCID list in America . We were put into contact with the NIH and clinical immunologists in the UK and Italy . Gabrielle went to the US in 2000 to be part of the Hyper IgM research at the NIH in Bethesda . She is dependent on Polygam which means she is dependent on the generous people who give blood. According to the World Health Organisation. Gabrielle is classed as ' medically fragile ' although her lifestyle belies this. Evidently she is one of an estimated twenty females in the world with autosomal recessive Hyper IgM.
It would be unethical to list all the people both in the medical profession, and beyond, who have provided us with amazing emotional and medical support over the years. This is an opportunity to acknowledge you all, thank you.
Sheryl Shapiro (CVID with a variant of Hyper IgM)
My name is Sheryl Shapiro and I have CVID. I am 42 years old, married with 3 children. I am currently the Secretary for PINSA. I was initially diagnosed about 5 years ago. Unfortunately, at that time, the management of the disease was poorly handled. Information was scarce, and treatment was, by and large, a hit-and-miss affair. The situation now, is of course, very different. I had presented with symptoms from a very early age. Back then, however, one was simply labelled a "sickly child". I’m sure you are familiar with the scenario – coughs and colds become complicated…sinus and ear infections…. Gastric infections…bronchitis. The problems escalated when I fell pregnant for the first time. Miscarriage (3), mastoiditis, gall stones. The infections became more severe in nature and more frequent – and, of course, my ability to deal with them dropped accordingly. Without proper management, living with PIDs is a stressful and difficult endeavour. No-one seemed to understand what it felt like being sick most of the time and the confusion and fear it created for me only made me feel more isolated and "different". I tended not to tell people, as their reactions were unpredictable, at best. Either they would avoid me, for fear of "catching" something, or show pity. I never could decide which was worse. I began to avoid friends, as it was easier than explaining why I was sick again. My activities were limited .I spent a small fortune on Doctor’s visits and antibiotics, and was told at various times, to "see a psychiatrist, get a life, or labelled a hypochondriac". I knew I wasn’t crazy, but that’s about all I did know. My children were confused – Mom wasn’t like other moms, and couldn’t seem to do the things others could. On the flip side, my husband was and is my mainstay. He has pursued answers with a doggedness that has seen me reach the point at which I am now. The condition is under control; my infusions are regular and adjusted according to need. I still get infections, but they are manageable – both because of appropriate treatment and the knowledge and understanding I have of the disease. It has taken a long time to get to grips with this. There has been anger, fear and a great deal of frustration. Had it not been so difficult to find information and support, I have no doubt, the ride would have been easier. Nevertheless, the learning curve has been interesting, and although it has tested our patience and strength of character, I like to think we’ve passed with flying colours.
Morne Van Rensburg SCID
by Engela Van Rensburg
Mornè entered my life on 28 June 1996 as a beautiful and perfect baby boy. Never did I imagine how he would change my life! After all the tears and fear of miscarriages during my pregnancy, he was at last born at 37 weeks without any complications. It was a wonderful relief - which would change to despair in a few weeks time...
At 7 weeks Mornè refused to drink and wouldn’t stop crying and, although a mother for the second time, I felt helpless and frustrated as I could not imagine what was wrong. When I looked into his throat, I saw massive throat ulcers. The doctor admitted him and mommy and baby stayed in hospital for a week. They gave him antibiotics intravenously and he improved.A few weeks later we were back at the paediatrician as he had a terrible bad chest. This time antibiotics, cortisone and nebulising did absolutely nothing! One day my baby stopped breathing during a coughing episode. Needless to say, I was hysterical. I took him, out of desperation, to another paediatrician. Mornè had such bad pneumonia that we feared for his life! He was 3 months old.
He still did not improve in hospital and the paediatrician started to investigate. First they suspected he had Cystic Fibroses and then the results came back saying he had NO Immunity. "We call it SCID", they said, "It stands for Severe Combined Immune Deficiency". This was so terribly scary! We did not know how to deal with it. All the tests, the medication, the fear of what is happening and you don’t know what it means. All the uncertainty about tomorrow and the day after! People give you facts and an hour later you ask them to please explain it again as it does not seem to hit home. People saying your child has a life threatening disease but never saying outright that he is going to die, although that is what you hear. People not being well enough informed and today saying to you "at least it is not Cystic Fibrosis" and tomorrow saying to you "this is a disease from which your baby might die and you must start preparing yourself for that". They started giving Mornè immunoglobulin. Slowly but surely he improved. At a stage we decided to christen him in hospital and our minister started organising it. We feared we would not be able to take him home again. He was in hospital for over a month. We took him home on an oxygen machine. At eight months we could at last christen him in our church!
By then we settled into a routine of taking him every three weeks for his immunoglobulin infusion. The two of us would stay there for the day and that night go home again. Although he was still ill 90% of the time, we felt this was working and felt safe with what was happening to help him. He scarred his lungs badly with the pneumonia and always struggled with his chest. Throat ulcers were also part of life for us and I used a spray his throat to deaden the pain before I’ll fed him. Feeding itself was a disaster as he couldn’t eat anything coarse. It would hurt and he would vomit everything out again. Vomiting was part of the routine. He got quite smart with his medication and would show me which of the 4 antibiotics he would like to take first. The choices differed with emotions of course. In a month Mornè would spend at least two weeks in hospital; that became part of our lifestyle.
Then, at 18 months he developed TB in his glands. We discovered that this was from his initial immunisation at birth (he did not receive any other as he was always ill - fortunately). The gland under his one arm became a 3 cm hole and made a terrible wound which would not heal. After a few weeks we got it to close up. But now on top of the normal tons of medication, he had to take TB medication. His dosage was quite severe and we were warned that it could blind him. We had the choice...
After this things started getting worse. He was ill more frequently, he was in hospital for longer periods and the amount of medication he was taking, started taking its toll on his little body. They did a gland biopsy in his neck to look at the spread of the TB, they also did a lumber puncture at one stage because he had meningitis symptoms, and he repeatedly vomited all his food with each meal. Keeping things down were basically impossible. All his teeth started breaking and rotting. Our dentist steel-capped them for us. It was then that we realised we were living in a bluff-world and that he would never recover with how we were managing then. We started searching on the Internet for information and help and joined an e-mail support group. This shed tremendous light on what we were really dealing with and suddenly I realised what we are in fact facing - a killer disease! We also got hold of a small group in South Africa who gave us some information.
The e-mail support group all talked about bone-marrow transplants - and we started hoping! A terrible thing - hoping. Needless to say, this was in vain. It was by this time too late - Mornè had too many infections and his poor body was so broken down by disease and infections. We had to raise R1.2 million but although the person on the street is caring and willing to help, the world out there does not concern itself with a two year old boy who has a disease nobody understands or grasps the concept of!
Mornè slowly deteriorated and lost weight at a terrible pace. One day I realized his backbone was going to push through his skin and I decided this was it! Now he has to be admitted! We admitted him and first tried tube feeding but his throat was ulcer-swamped and his tummy had no lining any more and could therefore not cope. So everything came out as soon as it went in. We then decided on intravenous feeding and he went to theatre for a lumen. The paediatrician decided we should stop oral feeding to try and give his tummy a chance to restore itself. He was allowed to have a food shake at 1/4 strength with water. He had a terribly swollen tummy with only skin over the rest of him. We went home with my baby on oxygen, drip and intravenous feeding. We had to change the feeding bag every 24 hours, scrubbing up as in theatre and gloving and masking. By this time he had terrible runny tummies continuously and vomited just as much. He could not sleep in his cot at night as he could not lie flat. He was not able to breathe. Many nights were spent with him on my husband’s chest in a chair.
Then the dreadful day came when I couldn’t settle his fever. We went to hospital. That Saturday morning he had a terrible fit. I was so scared for him. And this time the days passed but nothing changed. Mornè stayed terribly ill and now started asking for me during the night, calling me. He was in hospital for 2 weeks and called me a last time at 4 in the morning. I sat with him, hugged and kissed him, cried for him and tried to blame everything around him for not giving him enough air. I was convinced his nose is blocked, the cannulars skew, the tube twisted. He passed away at 10 o’clock on 6 October 1998. He lived 2 years and 3 terrible hard months. I never felt so much pain as at that moment. Why?
I will never be able to understand the why of it all and the pain is just as intense as it was that final day but I do understand he came for a reason. There are children out there who can be helped! We now have the knowledge, we understand so much more about the disease and can do so much more to take the killer out of the disease. We need to inform the world of this disease, we need to inform medical staff and doctors and teach them how to treat a carrier of SCID or any other immune deficiency. We need them to understand that this disease is just as terrible as AIDS and has the same effect as AIDS. With AIDS a virus kills your immunity slowly - with SCID you don’t have immunity from day one!
We need to tell people to help our children as much as they help others. We can only do this if we make them aware of the disease. Mornè came for many reasons to this place called earth - to teach us how important love is, to make people realise the real quality of life and to smile even when you feel like giving up, to change peoples ideas about life, to love. But most of all he came to help- to help other children like him. Let us use the knowledge he gave us. God gave me an angel who will live in my heart forever. He took him away when the time was there but He gave me golden palaces filled with treasures of beautiful memories.
ALWAYS in memory of my beloved angel.
SHAMEER SEECHARAN
By Jeetesh Seecharan
HI, WE JEETESH & SAMEERA SEECHARAN, HAVE A SON WHO HAS BEEN DIAGNOSED WITH “WISKOTT ALDRICH SYNDROME”. PLEASE MEET OUR LITTLE ANGEL, SHAMEER SEECHARAN.
HE SUFFERS FROM A RARE GENETIC, IMMUNO DEFICIENCY SYNDROME WHICH CAUSES RECURRING VIRAL AND BACTERIAL INFECTIONS, STUNTED GROWTH, VASCULITIS, ECZEMA AND EVENTUALLY LEADS TO LYMPHOMA (AN INCURABLE CANCER IN THE LYMPH GLANDS) IF NOT CURED IN TIME.
Since the age of 3 weeks, he has been frequently hospitalised for Excessive Blood Loss, Recurring Bronchol Pneumonia, Dr Johnson’s syndrome (A severe skin disease), Diarrhoea and Excessive Weight Loss.
After various tests his Syndrome was diagnosed by our Immunologist Dr Michael Loubser at the Olivedale Clinic in Randburg and supported by Professor Beatty at the Red Cross Hospital in Cape Town . Since then Shameer has been on Daily Oral Medication and Monthly Polygam Infusions, which are not enough for him to lead a Normal , Healthy Life. He is 2 Years and 4 Months old but he cannot walk, as his Bones are too weak & he does not sleep much as his inflamed skin itches a lot and his lips are always cut and sore.
The only cure for his Syndrome is a Bone Marrow Transplant failing which he would not live longer than 8 to 10 Years of Age. After extensive Research by Dr Michael Loubser & our numerous visits to prospective facilities in South Africa we have come to the conclusion that South Africa does not have the Specialised Transplant Units or the Skilled Staff to do this Transplant. Dr Paul Veys at the Hospital for sick children at the Great Ormond Street in London has agreed to do the Transplant for Shameer. However it would cost us approximately 70 000 Great British Pounds (Approx. 1.1 million rands) which we are trying to raise.
We have set up a Trust for Shameer, the Trust Details are as follows:
Name of Trust: Shameer Seecharan Trust Bank: Nedbank Branch:East Rand Mall Account Number:1136 009329 Branch Code:113642 Account Type:Cheque Contact People:
Jeetesh Seecharan (083 789 9511) Sameera Seecharan (011) 421-9990
Lux Seecharan (011) 923-1373
Jeandre Tinhof
By Madre Tinhof
Thank you very much for the information gathered and posted on the Internet. It really helped me after I discovered that my son, Jeandre, suffers from hypo-gamma-immunoglobulineamia. He has low IGA, IGG1, IGG3 and IGG4 levels.
He is 5 and a half years old and started his first POLYGAM treatment six weeks ago. This past Saturday he received his second treatment. I would appreciate it if you could give me some tips with regards to the administration of the drip. Everytime that my son needs a drip, there seems to be some problem with the numbing of the site and the flow of the drip. I
read that your daughter often receives treatment in hospital - well done to the two of you for the positive manner in which you approach her illness. I find it hard to come to grips with the seriousness of Jeandre ' s condition and the impact that it already has on our lives and definitely will have in future.
Are you aware of any other members of your Association that lives in or close by East London ? I need to get more information regarding the POLYGAM treatments, the risk thereof and the progress of research with regards to immunodeficiencies.
Madre Tinhof Desktop and LAN Specialist T – Systems Daimler Chrysler plant, 7 Settlers Way, East London PO Box 671, East London, 5200 Tel (W): (043) 706 2933
Mobile: 083 415 4101 Fax :(043) 706 2085
E-mail: madre.tinhof@t-systems.co.za
If anyone can help, in any way possible, please do so.
