My name is Heidi. I am an urban hipster-wanna be. A career girl. A transplanted Toronto girl living in Perth, Australia. A mom to the three most beautiful children in the world.
Toby is 4 and loves going to St. Benedict’s Kindergarten here in Perth. He is a big fan of Teenage Mutant Ninja Turtles and Thomas the Tank Engine. He claims to hate girls but has told me that some of the girls from Kindy like to chase him around and kiss him! He is very affectionate and smart and popular. He adores his brother Jeremy, who is nearly 6, and his baby sister, Miranda, who is 2 1/2. To look at him, you would never even know that he can become seriously ill at any given time.
Toby has a Primary Immunodeficiency disease (PI) called Complement Deficiency, a rare genetic disorder which has no cure or effective treatment. Basically this means that his ‘innate’ immune system (the one he was born with) doesn’t work properly and that as he matures, his ‘adaptive’ immune system may have to compensate for this as he gets older. Toby has to take antibiotics every day as a preventative during the winter months so he doesn’t get sick. I have made put some posters around his school promoting greater awareness of PI.
The Story to Date:
When Toby was born, he had difficulty regulating his body temperature He was a fussy baby who slept only 20 minutes at a time. This was really difficult to cope with as his older brother Jeremy was a settled baby and slept well from birth. At 1 month of age, he became cyanotic and had difficulty breathing. After a mad dash to the paediatrician, he was hospitalised for 10 days following a diagnosis of a viral infection called bronchiolitis and needed 24-hour oxygen to help him to breathe. At 5 months of age, he suffered a recurrence of the same virus. At 10 months of age, he was again hospitalised, this time with micoplasm pneumonia. At 17 months of age, he stopped walking. After a myriad of invasive and frightening diagnostic tests, including ultrasounds, a nuclear bone scan, x-rays, blood tests and a CAT scan as well as multiple visits to the top paediatric specialists here in Perth, he was diagnosed with osteomyelitis (a bone infection to the hip) and was hospitalised for 3 weeks, During this stay, he also developed rotavirus, a potentially debilitating gastrointestinal virus. He developed cervical adenitis at 22 months of age – an infection of the lymph glands in the neck and was again hospitalised. I spent 4 days rushing between the maternity and paediatric wards (thankfully in the same private hospital) as I had just given birth to Miranda when Toby fell ill.
Finally, our paediatrician made the decision that this pattern of unconventional illness did not fall into the “normal” spectrum. We were then referred to immunology clinic at Princess Margaret Hospital for Children in Perth and were given the devastating news about our son’s condition. We have since been referred to a private paediatric immunology specialist whom we see once or twice a year for follow-up. Toby has, since his diagnosis, contracted several bouts of bronchial pneumonia, a burst eardrum from an infection of the middle ear and chronic sinusitis. Last September, Toby had a surgery to remove his adenoids and to undergo a nasal lavage (sinus washout) to attempt to rid his upper sinuses of the virulent bacteria which never seemed to abate with antibiotics. Unfortunately, he haemorrhaged, was rushed to the children’s hospital, underwent several more surgeries and was in the ICU for 2 days. He eventually recovered but it was a terrible wake-up call for all of us.
Our family life has been affected by his condition although we try and make the children’s lives as normal as possible. Sadly, our children are very used to visiting their brother in the hospital, but we are so very fortunate to have a wonderful paediatrician and a wonderful paediatric ward (which we call our 2nd home) at our local private hospital – the nurses are like family!
We don’t know what the future holds for us but I do know this – we treasure every moment with Toby as he is a brave, brilliant and strong little boy. In recognition of his courage, he has been nominated for a Pride of Australia Medal 2007 for Courage. I have taken it upon myself to try and educate others about his condition because often people don’t understand why Toby can become very ill very quickly and that his condition isn’t contagious, it is genetic. Many children with Toby’s disease go on to develop autoimmune disorders later in life.
What is Primary Immunodeficiency?
In my search for answers about Toby’s condition, I have found great comfort in the National Primary Immunodeficiency Center (http://www.info4pi.org) sponsored by the Jeffrey Modell Foundation, a wonderful a website for carers, parents and children alike.
Primary Immunodeficiency (PI) causes children and young adults to have infections that come back frequently or are unusually hard to cure. In Australia alone, up to 30,000 people suffer from one of the 140 known Primary Immunodeficiency diseases. If you or someone you know are affected by two or more of the following warning signs, speak to a doctor about the possible presence of an underlying Primary Immunodeficiency.
Here are the 10 Warning Signs of Primary Immunodeficiency:
http://www.info4pi.org/patienttopatient/pdf/10_warnings_poster_eng.pdf
Living with PI
Families struggling with PI often face misunderstanding and discrimination born of ignorance. Schoolmates, teachers, neighbours, employers and family just don’t understand sometimes. Many think “it’s all in the mind” or confuse the condition with AIDS. Working to develop a cooperative relationship with carers and teachers and educating them about your child’s condition will help them better understand the nature of a PI disease.
Anger, fear, and uncertainty are common feelings for patients and families coping with PI. All of these feelings are valid and need to be accepted and worked through for the emotional health of everyone involved. Fortunately, thanks to new therapies, greater public awareness, and better access to information and medical care, many PI patients are leading more normal lives – going to school, doing sports, work and enjoying real quality of life. We have been very lucky – St. Benedict’s Catholic Parish and the Pre-Primary mums as well as our local child care centre have been wonderfully supportive over the past 18 months.
urbanmoms.ca member Heidi is a transplanted Torontonian living in Perth, Australia. Share your support, thoughts, questions or similar stories with Heidi below, in comments. If you have a story to share (about any topic!) please send a word document along with a picture (or a few!) of you and/or your kids to kath@urbanmoms.ca
Hey Heinrich – it’s me Carine. Is this really you (from Ottawa) – send me a note.
Carine
Hi Heidi,
I read this and look at you as an inspiration. I am just beginning my journey with Harrison and think you have taken fantastic steps not only to look after your son in the best possible way but also to educate the community using your personal experiences.
This is a very hard thing to do and you are extremely well written. Congratulations on crating a voice for all PI sufferers. Just reading the comments from your loved ones makes me cry – and happy at the same time knowing you have fantastic support out there for your and Toby. That and you started th PI forum too which helps immensely just having it there for asking questions and getting much needed support.
Thank you.
Sis, we will be praying for Toby and the rest of you as you deal with this everyday of his life and yours. Thank you for sharing with me, as we did not understand the true nature of his condition. Love you all.
Firstly, thanks to you all wonderful ladies for having the patience and fortitude to read my story.
To my beautiful IRL friends and family in both Australia and Canada(you know who you are), I would not be able to manage day-to-day without all of your unwavering and loving support. I know you are always there when I need you.
Lastly, to Anne: that is a wonderful story. You are so right – you handle what you are dealt with in life. We don’t know any other way to live and those cuddles from my kids are that extra special. :)))
When my boy was tiny… age 3…I would take him swimming at the local rec centre. It was an ordeal getting us there on a snowy day getting out of all our big winter coats and boots getting swim suits on getting him into the pool and keeping him safe getting him dry again and back into the snowsuit to go home when he would have preferred to stay in the pool. Dealing with potty issues…need I say more?
One day while I was there my friend came in with her 3 small children and went through the same ordeal it was for me…but times 3!
“How do you manage!?!” I asked.
“You only just cope with what you have.” she replied.
I’m sure this illness can be quite an ordeal at times. But bravo to you for doing such a marvelous job.
Also…recently my mom came down with a serious illness. A friend of mine suggested that I try to look at this as a gift. That as terrible as it was that my mom was ill the illness would teach me and my family many important lessons that we might not have learned.
I am finding this to be very true. This life altering event has changed my family for the better. We are communicating more often and at a new level. We are learning to appreciate the small gifts life sends us. And my sister and her husband have finally quit smoking! All blessings indeed.
Your little superman is a blessing indeed. I enjoyed learning more about his challenges and I’ll make sure to keep him in my thoughts from time to time.
Heidi you are a fantastic mum….who goes out all the way out for her kids and friends !!!! Toby is a special little boy who is so happy, energetic and full of life and Joseph absolutely loves him and calls him his best friend (his first best friend and he is 5 years old…all he talks abot is Toby !!!!)…Thanks for all your help and i know we will all be friends for a long time to come xxxx
Hey big sis I am very glad that you posted this article. I had no idea what you have going through. I know that Toby had been in the hospital several times but being all the way over here it became hard to keep track of. Just to let you know we are always thinking of you. And just for the others out there when my own children were in the special care nursery here in Canada my big sister called the hospital from Australia to get us the help we needed from the medical staff at Guelph General. Heidi has always been a deeply caring person and to her family always comes first. Although she can be very headstrong that is also one of her biggest assets. I agree with one of the contributors and believe that she should be given a medal for her perserverence in the face of adversity.
Heidi, even though we are very dear friends, I never knew the size of the load you are carrying. You have my upmost respect and admiration.
Heidi – It sounds like you should be commended for your courage too – no doubt your “Superman” gets this from you. Thanks for sharing your story and very, very best wishes for the future to your entire family.
I am Heidi’s bbf in Canada and let me say she has the most loving and generous heart and unending strength and courage especially when it comes to her children. Toby is very lucky to have such a wonderful mother and tremendous family. Love ya HHL!!
Ah shucks, thanks guys! I should really have put the relevant Canadian data in there. To paraphrase, there are up to 50,000 people suffering from one of the PID diseases in Canada, yet most people don’t even know what it is!!!
And yep, he is a total DOLL. I suppose you learn to “live” with it, but it never leaves your mind and heart. It’s like always being on the edge of your seat in a terrifying movie, not knowing what is going to happen next.
Wow Heidi, I knew Tobs had problems but your story has made it all a lot clearer. You are such a fabulous mother, all your children are a great credit to you. All the best matie 🙂
Thanks so much for sharing your story Heidi. Toby (and his family, of course!) is so brave. I too can’t imagine how hard it would be to have PI or have a child with PI. Thanks for opening our eyes about this condition and for your work educating others and supporting other families with PI.
Heidi, your little Superman is such a doll! I can’t even imagine the fear and anxiety that goes along with having a child always on the verge of getting sick. We take so much for granted. Keep on spreading the word and educating others. I had never even heard of this condition and am shocked to see how common it is. Keep us posted.