A last post

 

Over 6 years and 100 posts ago we discovered Ellen died of Neonatal Hemochromatosis and we embarked on a journey – with the help of Dr Whitington’s new treatment – to try to have our own family.

It’s taken a long while. There are still lots of days when we catch our breaths meeting or seeing a child about the age Ellen would be. We still miss her a lot, but the ache has gone.

There is so much joy. Ellen gave us the chance to be parents to Harry and Cara and it’s been wonderful. Harry and Cara are both happy and healthy.

The treatment is now being used a lot more widely, there is a lot more information out there, and there are more support networks. In the last month a group has started up at:
http://health.groups.yahoo.com/group/Neonatal_Hemochromatosis
There are already about 40 members and it’s very active. People are sharing their experiences and helping others by doing so. That was always the purpose of this blog. Hopefully, in some small way, we’ve been able to help others by sharing our story.

So we’ve come to the end of the last post on this blog. We’ve no plans to take it down, and feel free to email us if you have any questions or want to leave comments. Thank you so much to the people who’ve contacted us over the years, sharing your experiences and providing your support has been invaluable in our journey. We wish you all the best on yours.

Lots of love Trent and Mary

 

Cara’s first year

Ye Hah

Cara’s almost one.  The first year has gone so quickly.  It was really interesting to re-read one of the posts we made on Harry’s first year (click here) and got us thinking about Cara.  So here’s a quick summary of her likes, dislikes and progress.

• Cara is an absolute joy.  She loves smiling and giggling and giving cuddles.  Whenever you look at her she smiles back.  Her favorite game is peek-a-boo which she finds hilarious.
• Like Harry just before his first birthday Cara’s not walking yet, but not far away.  She’ll stand up by herself for seconds at a time before sitting back down again.
• Her favourite book is a sparkly book with bugs…Plus any book little book.  She loves reading and is always pulling books off the shelves.
• She also loves bathrooms! If you ever loose her for a minute, you can be sure she’s crawled into the bathroom to sit on the cool tiles or demand a bath by banging on the bathtub.  She’s been taking swimming lessons too and just generally has a big smile on her face whenever she’s splashing water.
• She’s a pretty constant talker.  Not too many words just yet, but lots of interesting sounds.  She does love “mum, mum, mum, mum…”  (No “dad, dad, dads…” yet) and understands how to use it to effect.  She makes a recognisable “buh” sound in response to books.  And finally she seems to be quite fond of making an “feh” sound – f this, f that.
• She was weaned at 4.5 months and happily drinks from a bottle she holds by herself, if she feels like it.
• She got her first tooth at 9 months, and got another 5 one week at the time following that.  Since then she is stuck with 6 teeth (3 on the top and 3 on the bottome for a month or two now).  She is very cute when she gives her big toothy grin.
• Cara plays really well by herself.  She loves exploring her toyboxes or whatever is lying around.  She has a habit of standing over the toy boxes and systematically tossing everything out, with a cheeky smile on her face.  She also loves playing with Harry’s toys and is particularly fond of his space ship and Woody.
• Having mentioned Harry, Cara idolises him.  They play quite well together, and as you can see in the photo, she keeps Harry in line.  They love cuddling each other.
• Sleep and Cara has been challenging, but is getting more consistant.  One thing you can certainly say is that Cara loves her dummy.  She has only had one dummy, which can only be bought in the States, which means we have spent hours on the floor in the middle of the night searching for said dummy.  She now sleeps, well… OK.  Goes to bed around 6-7pm and wakes at least once in the middle of the night for a feed before getting up around 5-7am.  Hopefully we’ll get rid of that middle of the night feed very soon.
• She enjoys music – and loves banging on the keyboards we have.
• Likes getting outdoors in our backyard, and will crawl all over the yard.

 

Cara at Home

Cara at Home

One of our “recent” blogs had Cara coming home from hospital. Well as you can see she is well and truely home and almost one!!!! After a bit of shaky start she is now doing wonderfully.

The first three months of her life Cara did not want to be here. She was miserable, did not sleep and did not put on weight. There was nothing specifically wrong, just a prognosis of – “failure to thrive”. Not a pleasant phrase to see on your daughter’s medical charts. But once she learnt to smile, boy did she work it. She is now one of the smiliest, happy, energetic babies I have had a pleasure of seeing.

She is a pure JOY – so full of life. We are so grateful she is here.
While not taking away from Ellen, she has helped heal so many hurts that the death of Ellen brought us. She makes our family whole.

We are some of the lucky ones……
Thank you to everyone who shares our journey with us

 

Harry’s Birthday

Harry’s Birthday

Harry Turned Four Yesterday! I can’t believe how much he has grown. We celebrated his day with a small family party and a “H”cake. He was so happy, he sang and danced his way through the morning in his very cool Batman suit.

While we would be lying if we said that (as with all children), life with Harry has always been easy, yesterday was a wonderful day – a celebration of his life. Yesterday he was heaven sent and absolutely delightful.

He woke up singing he was so excited. Morning cuddles were followed by some present opening, and then some more cuddles for his beautiful sister who was now awake.

A great day was had by all of us. Who would have thought???????

 

Differences between hereditary hemachromatosis and NH

Over the years quite a few people have posted comments asking about whether neonatal hemochromatosis NH is related to hereditary hemochromatosis.  This article by Peter Whitington explains hereditary hemochromatosis and how NH is different.

 

Almost home!

Cara’s now out of the special care nursery and, fingers crossed, will be home tomorrow. One or two outstanding tests could delay us by a day. We finally got a family snap. Someone though, wasn’t smiling for the camera until she was fed!

 

Cara out of NICU, now in Special Care

Cara’s graduated from intensive care back into special care. Everything looks like it’s progressing as it should, and we’re hopeful things are still on track to have her home soon.

 

Welcome Cara Grace Jordan!

We’re thrilled to announce the arrival of Cara Grace Jordan.

Born Tuesday 19 August at 10:38, weighing 3140g.
She is a much loved and anticipated addition to our family.

Unfortunately she’s still in the Neonatal Intensive Care Unit, and will be there for at least a few days as the doctors monitor her closely. Her serum ferritin levels were about 10x higher than Harry’s. However, most of the tests that have come back are positive, so we’re hopeful she’ll be ready to come home by the end of the week.

 

It’s a Baby Girl!

It’s been a very long time since we last posted here. And there’s been a lot happening! The biggest news is that Mary is pregnant again, now about 23 weeks, and everything is going fine. You can see more ultrasound images here.

It’s also been exciting to be in contact once again with Dr Whitington and hear of the more recent progress in the research. See my comments on his recent paper here.

Mary’s going through the treatment again, and it’s running quite a bit smoother compared to last time. Though it’s no walk in the park. While using Intragam makes the infusion go a lot quicker, there’s still a lot of headaches and needles and time spent in hospitals. Also interestingly, for other people with NH experience, Dr Whitington’s protocol has changed somewhat since Mary underwent the treatment with Harry. Instead of starting at 18 weeks, Mary commenced at 14 weeks, and then had the second treatment at 16 weeks, before the weekly treatments started at week 18. This is based on a theory that damage to the foetus could start earlier than previously thought.

Apologies for the long break between posts. We’ll update you on our progress in the not too distant future.

 

New research article in Pediatrics

Dr Peter Whitington and Susan Kelly have just had their latest research published in Pediatrics.  I’ve summarised the key points from the abstract below, and if your lucky this link may take you to a pdf version of the complete article.

Whitington P & Kelly S, 2008, “Outcome of Pregnancies at Risk for Neonatal Hemochromatosis Is Improved by Treatment With High-Dose Intravenous Immunoglobulin”, Pediatrics published online May 12, 2008; DOI: 10.1542/peds.2007-3107

In summary the article builds upon his earlier work (see my posts here, here and here) .  The number of women involved in his study has increase to 48 (including Mary!) treated over 53 pregnancies.   The histories of the women demonstrated the high risk of occurrence of neonatal hemochromatosis: 92% of pregnancies ended badly, or in the papers words “resulted in intrauterine fetal demise, neonatal death, or liver failure necessitating transplant”.  “In contrast, with gestational therapy, the 53 at-risk gestations resulted in 3 failures and 52 infants who survived intact with medical therapy alone. When compared on a per-woman or per-infant basis, the outcome of gestation at risk for neonatal hemochromatosis was improved by gestational therapy. ”

The paper concludes that neonatal hemochromatosis seems to be the result of a gestational alloimmune disease, and occurrence of severe neonatal hemochromatosis in at-risk pregnancies can be significantly reduced by treatment with high-dose intravenous immunoglobulin during gestation.

 

Alice Rowlands

We hear from people reasonably regularly who have lost children through NH.  We recently heard from about Alice Rowlands  who passed away after 5 days trying to fight the disease.  Miranda has set up a web site in memory of Alice.

It’s terrible and tragic and it reminds us how lucky we are to have Harry and how much we miss Ellen.

 

Off to day care

Finally got around to updating a few photos on the flickr site. This one was taken this morning as Harry and Mum set off on the 200m walk to Harry’s new day care – he loves it!

 

Australian Story hits home

We shed a few tears this evening watching Australian Story (an Australian TV program). This week’s episode told the story of Jane and Andrew, a couple who lost a child at 8 months.

A couple of things really struck a chord with Mary and I. The way Andrew talked about “washing the crap away”. Another moment that rang true was Jane’s comment about how many people around her ignored the fact that her wonderful child had lived and died, even though she felt her child, Jackson, was and is always with her.

Jackson died on the day that Ellen was due, and their lovely son Sam, who is now two, was born 5 days before Harry. Some stories hit home harder than others.

You can watch the full episode (titled “War Story”) here.

 

Exchange transfusions a treatment for NH?

An Italian team of doctors has now published a paper (abstract here) where they appear to have successfully used exchange transfusions to treat Neonatal Hemochromatosis (“NH”) in a new born. This potentially offers hope to parents who, without any prior warning, find out at birth that their child has NH.

The great progress that Dr Whitington and his team are making with their pregnant mother IVIg treatment has an obvious downside: you have to know there is a possibility the child about to be born will have NH. Anecdotally the odds are around 1 in 100,000. So, given the cost and huge commitment (read about Mary’s experience here), you’re not going to have this treatment unless there’s a good chance the baby will have NH. As it happens there is a good(?!) test – if you’ve previously had a baby with NH there’s an 80% chance that your future children will also suffer the disease. In practice, the tradgedy is that you’ve probably lost a child before the benefits of the IVIg treatment in future pregnancies are available.

We’ve blogged previously about antioxidant and iron chelation therapy (here), and up until now this therapy, along with liver transplantation, were the only treatments available to new borns suffering from NH.  Exchange transfustions involve removing red blood cells or platelets and replacing them with transfused blood product.  It is used as a treatment for other alloimmune diseases in new borns.  It will be interesting to see whether this becomes a more standard and accepted treatment for new borns who present with NH symptoms at birth.

 

NH – congenital alloimmune hepatitis

Dr Peter Whitington, who developed the IVIg gestational treatment that Mary underwent, has published another paper.

Neonatal Hemochromatosis: A Congenital Alloimmune Hepatitis, Seminars on Liver Disease, 2007, Vol 27, pp 243-250.

I haven’t had the opportunity to review the paper yet, however the abstract states recent research has confirmed Dr Whitington’s alloimmune hypothesis.  Proof of this came through lab tests on mice which were able to reproduce the disease.  The title of the paper suggests that the disease should be renamed “congenital” (medical condition present at birth) “alloimmune” (see the wikipedia definition here) “hepatitis” (causing liver damage). Makes sense.

This research will hopefully one day help identify the antigen responsible for the alloimmune problems and lead to a simple and cheap treatment for the mothers of NH babies in subsequent pregnancies.  I look forward to providing a more thorough lay person review (I’ll have the medical dictionary handy) once I’ve got a full copy of the paper.

 

Harry’s 2nd Birthday

Harry turned 2 a couple of weeks ago, so it’s high time a couple of photos made it onto the internet of the occasion. He had a great time!

 

Following in Dad’s footsteps?

Could not resist posting this photo!

 

Pa’s birthday, Beccy’s Christening, and other stuff

An eventful week or so for the family.  Pa and Grandma came over to celebrate Pa’s birthday (cake is a Harry favourite).  It was also Rebecca’s christening (Harry’s cousin) last week.

The photos above are posted using Picasa.  Thought I’d try the Google Picasa option to see how it works.  It’s easier to upload photos but I think Flickr has a better feel and can link with this blog better.  Anyway, enough of the techno details, you want more videos.

Harry’s very fond of the Wiggles. The problem is that Mum and Dad have had enough. The three Wiggles DVDs that we have have been watched to death. Mary’s good idea was to buy the Mary Poppin’s DVD for a change. Such decisions can have unintended consequences…

 

It’s been a while…

Harry and Sam

Almost three months since the last post here on the blog and a lot’s happened. We’ve settled in nicely to our new home in Dutton Park and are really enjoying being so close to the city. It’s about a 2 minute bike ride down hill to Southbank where the bike tracks and play gyms have seen a fair bit of Harry. It’s also been great to catch up with some more friends – and for Harry to meet some new ones.

 

Harry and Lachlan

Two little boys

It was a great surprise to catch up with Bill, Linda and Lachlan on the weekend. It’s fantastic to watch two toddlers have a really good time together!