At the party people asked me about Hallie's condition and how it troubled her when she was sick like this so I thought I would explain about her condition in this post.
First of all I will get all textbooky because that is the easiest way to explain it.
Hallie has congenital adrenal hyperplasia. Congenital means present at birth . ie- it is genetic and she cannot be cured or grow out of it. The word adrenal comes from the adrenal glands which are a pair of organs that sit above the kidneys. Hyperplasia means 'overgrown'.
The adrenal glands make three hormones.
1. Cortisol - protects the body from the effects of illness and injury. When normal people are sick or injured, the body releases extra cortisol to help the body cope with the trauma.
2. Salt-retaining hormone - this hormone governs the amount of salt lost in the urine via the kidneys. Without this hormone you would uncontrollably lose salt, leading to dehydration, very low blood pressure and vomiting. The levels of salt and sugar in the blood fall and potassium levels rise. This is called adrenal crisis and without treatment, you would become unconscious and suffer cardiac arrest.
3. Androgen (male sex hormone) - this helps aid growth in childhood and gives women their pubic hair.
People with CAH have an enzyme deficiency. The enzyme that produces the first 2 hormones, cortisol and salt-retaining hormone are missing so Hallie's body does not have these 2 hormones.
It's like the pipes that deliver these 2 hormones from the adrenal glands are blocked.
It was once described to me in this way:
Normal people have sensor lights in their bodies that automatically switch on and off the hormones when their body needs it. ie-switches on more cortisol in times of stress.
With Hallie we use a manual light switch in the form of medication to act in place of the 2 hormones she is missing.
This medication is in the form of tablets every eight hours which means she is given the hormones orally rather than naturally producing them herself. Now when we get sick as I said our body produces more cortisol to deal with the added sickness. When Hallie gets sick we triple her medication to imitate normal people. The key is getting the balance right. If we don't give her enough, she may go into adrenal crisis which means she has to get to hospital quick smart.
The only other problem is if Hallie is vomiting, the meds we administer to her orally are not staying in the body and she needs them intra-venously so a trip to the hospital. As yet she has only had one lot of intravenous meds.
We carry an injection called solu-cortef around which when injected in the leg during an adrenal crisis gives you a window of about 6 hours to get to a hospital. When we went to Thailand in June we took it there and I was retaught how to make it up and where to inject it in Hallie's leg. It is annoying that they are not already made up like epipens because it takes about 3-5 minutes to get the stuff out of the vial and into the syringe.
Hallie has an endocrinologist and paediatrician that she regularly sees. She has blood tests every 8 wks to check to see whether her 8 hourly meds need to be increased or decreased. The blood test measures plasma renin and 17-hydroxyprogesterone. (don't ask me what they mean). If the meds are not managed properly there are side-effects like increased sickness, stunting of bone growth and height and irregular blood pressure.
So yesterday Hallie was in one of her down times with her condition. You can tell when it is different from normal sickness as those who have looked after her can attest. One minute she is bubbly and all energetic and the next minute she goes all limp like a rag doll and very drowsy. It is very quick. Yesterday I just worked on getting her temp down. Usually it soars to about 39.2-39.6. I triple her meds and give her sugary fluids. She was vomiting a bit but it was not uncontrollable and she did not get too drowsy.
As long as her condition is managed and you have an action plan for everywhere you go incase she gets sick then she will have the same longevity of life as other people.
Now how did Hallie get this you may ask. Well Simon and I both have the recessive gene for this condition. Apparently 1 in 50 have it. When 2 people who have the gene get together, there is a 1 in 4 chance that they will have a baby with CAH. We had never heard of it before Hallie and it was not discovered until the 1960s so pre 1960s babies would die and the doctors would not know why. It affects both boys and girls. Don't worry the condition is quite rare.
So everytime we have a baby there is a 1 in 4 chance of it happening again. So with Oliver at about 10wks into the pregnancy I had a CVS, a procedure that tests the sex of the baby and whether it has CAH. They stick a needle into the placenta and test that. The needles look like huge knitting needles but they give you a local anaesthetic so it does not hurt.
If the baby is a girl with CAH, the mother has medication to help treat the baby in the womb. This is then continued orally once the baby is born. We did not know this with Hallie of course so we had to take her to the Royal Children's Hospital in Melbourne for surgery. Taking the medication while the baby is in the womb, prevents the need for the surgery.
When Hallie was first born they performed blood tests on her every second day. They weren't the heel pricks I was used to do she was soon black and blue all over. Slowly the blood tests lengthened to every 3 days , then twice a wk and then once a week until eventually we got to the every 8 wks we now have.
It was very hard at first because Hallie would scream and sometimes it would take ages to find a vein because she was so small and they were running out of veins to find. The ones they kept using would just collapse. In the RCH in Melbourne they used a vein in her neck to put in a canula and I joked that she looked like Frankenstein.
We were also living at St Marys at the time, an hour and a half from the hospital so it was tough making the trip in every few days for the blood tests. At times we had to wait up to 4 hrs to wait for someone on the children's ward who was free to do the tests. They would not let any old nurse do the bloods as it has to be someone competent in doing young babies.
We stayed in Melbourne for a week for Hallie's surgery and her team of surgeons were amazing. They were so kind and thorough and did everything to make the experience less traumatic. When Hallie was born, due to her condition, the outside of her vagina had not formed properly. That's when we were first alerted that something was up.
It took the doctors a morning of surgery to fix Hallie and they did an amazing job. It was a delicate operation because they had to give her heaps of extra cortisol so her body would stand the stress of the operation. (If she went into surgery without the extra cortisol she would have died. She now wears a medic alert bracelet in case of an accident so that doctors know to administer cortisol before giving her a general anaesthetic and operating.) All she has now are some small scars. When she came out of recovery Hallie had so many tubes and leads coming off her tiny body that it was hard to stay strong. You have to physically brace your heart to withstand the pain of it otherwise you would just go to pieces and I knew I did not want to do that, not in front of all those doctors anyway. The worst part was weaning her off the morphine. Apparently the headaches from it are terrible and she screamed for days.
The RCH in 2003
When we went to the RCH in Melbourne, I was feeling overwhelmed with all the overload of this condition I had never heard about and how we would manage it. But at that hospital we were on the same floor as the burns unit. I saw children and parents in so much pain and talked to other parents who were dealing with major illnesses etc that I soon forgot myself as I looked at what these families were going through. I realised that Hallie's condition was nothing compared to what some children have to go through. It is a privilege to know such families, to see amazing parents so giving of themselves every minute of every day, making each day count in the lives of their gorgeous children. (That's you Lisa!!)
The thing with Hallie and those who know her well, will smile is that she is THE best patient. She handles everything so well. She is very brave and does not whinge or complain - even when she is in lots of pain she just trembles and holds your hand. And she is so good with the spew bucket. Always gets it in - no projectile vomiting and pre-warns you before it all happens. I know - what more could you ask for.
Thankfully I don't mind vomit or needles. I always watch blood being taken and I don't let the nurses tell Hallie to look away as I want her to see how it all works. I also let the children see me give blood at Red Cross so they can see the importance of it and not be scared of it and become desensitised so to speak.
Mum made up this photostory for Hallie getting bloods done which she made into a hard cover book for Hallie to take each time. Hallie looks at it in the car. The book shows pictures of Hallie giving blood, from the beginning finding the vein right through to the lolly and band-aid at the end. It was a great idea and Hallie loves her book. Plus we always go to McDonalds afterwards which is a good incentive.
If Hallie was unable to access her meds, she would probably live for about 6mths if she did not get sick. She would just slowly feel generally unwell and get sicker and sicker from that. But if she got the flu, or a cold or gastro etc in that time, she would be dead within a day. So we instill in Hallie the importance of her meds and she sees them as no different as eating or going to the toilet. It's funny because her night meds which I give about midnight, she is always asleep but her brain now picks up on my voice and I just say to her 'Hallie open your mouth" and in her sleep she opens her mouth and crunches on the meds without waking up. This trick has not worked with others as Aunty Tammy can tell you when Hallie bit down on her fingers while staying over one time.
So even though her condition sounds complicated, it does not stop her from doing or achieving anything that she wants to and if I can fail human biology 2 times at matric and get my head around this then anyone can.