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.

 

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.

 

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.

 

Early antioxidant treatment for NH?

There appears to have been quite a bit of coverage lately on a recent journal article by Grabhorn et al (actually it’s not so recent anymore – took a while for me to investigate it). The Birth and Breastfeeding News blog, an article distributed by Reuters Health, and an update on the neonatalhemochromatosis.org all report on the findings of the paper. The favourable outcomes the paper refers to are all about increased successful outcomes when infants are treated with an antioxidant-chelator therapy and/or receive liver transplantations. The antioxidant-chelator therapy is essentially a cocktail of drugs that help mop up the damaging excess iron and free radicals in the body of babies born with NH.

I’ve attempted to summarise the results from the study as clearly as possible below.

• 4 infants received no treatment at all
  • 3 died within 25d, a good outcome for the other
• 5 infants received antioxidant-chelator therapy only
  • 1 died at6 weeks, the other four had good outcomes
• 5 infants received antioxidant-chelator therapy followed by liver transplantation
  • 1 died at 26 months, the other four had good outcomes
• 2 infants received a liver transplantation
  • both infants had good outcomes

This all sounds really good, but you have to bear in mind a few things. In our experience the doctors were not alert to the possibility of NH as a diagnosis (you can’t really blame them, this is a rare disease). In fact Ellen’s diagnosis was only confirmed after an autopsy, so the chances of getting this treatment if no-one is expecting it are low. But for Harry we were alert to the high chance of recurrence. As you can see above the odds are still not great, but they do seem to improve with the antioxidant-chelator therapy.

Liver transplantation has long been known to be a successful way of treating babies with NH, but our advice from doctors was that you would have to be pretty lucky to get one in time.

When we became pregnant with Harry, news of the antioxidant-chelator therapy was the first bit of hope that we might have a healthy baby. I think one of the Doctors gave us a copy of a paper by Flynn et al.

However, like so many things associated with NH, it’s not all black and white. Leonis & Balistreri point out that there are agents within the antioxidant-chelator cocktail that may be potentially dangerous to newborns. They also refer to a paper by Rodrigues et al who studied 19 infants and found outcomes of the 10 infants who received antioxidant-chelator therapy were nearly identicle to the 9 that did not.

But then again… Flynn concluded that:

…Early treatment with antioxidant cocktail is beneficial and may be curative in those who present with milder phenotype [Note: this seems to have been what happened with Harry]. Liver transplantation should always be considered at an early stage in non-responders and in children with more severe acute liver failure.

So what does it all mean? I don’t really know (which is not surprising considering my completely non-extensive medical experience!). Like everything else it just means you need to ask lots of questions… and that there’s always something more behind the quick media releases (but you knew that already).

Finally, the treatment does not appear to have anywhere near the success associated with the IVIg treatment (that Mary had with Harry) which results in babies who present with a much milder form of NH. For the record, Harry received Vitamin E (an antioxidant), but not the complete chelator cocktail, after he was born as part of the standard treatment when his ferritin levels were found to be high.

I understand Dr Whitington will be publishing a new paper updating the progress of the IVIg treatment in the coming months, so I’ll report back then.

References

1. Grabhorn, E., Richter, A., Burdelski, M., Rogiers, X., and Ganschow, R., 2006, “Neonatal Hemochromatosis: Long-term Experience With Favorable Outcome” PEDIATRICS, Vol. 118 No. 5 November 2006, pp. 2060-2065 (doi:10.1542/peds.2006-0908)
2. Leonis, M & Balistreri, W, 2005, “Neonatal hemochromatosis: It’s OK to say ‘NO’ to antioxidant-chelator therapy”, Liver Transplantation, Vol 11, Issue 11, pp1323-1325 (doi:10.1002/lt.20541)
3. Rodrigues F, Kallas M, Nash R, Cheeseman P, D’Antiga L, Rela M, Heaton N, Mieli-Vergani G, 2005, “Neonatal hemochromatosis-medical treatment vs. transplantation: the Kings experience” Liver Transplantation, Vol 11: pp1417-1424
4. Flynn D, Mohan N, McKiernan P, Beath S, Buckels J, Mayer D, Kelly D, 2002, “Progress in treatment and outcome for children with neonatal haemochromatosis”, Archives of Disease in Childhood Fetal and Neonatal Edition, 88:F124

 

More good news on NH

Here’s some more good news on the treatment of neonatal hemochromatosis (NH).

Over at the Macclesfield Hospital in Cheshire, England, little William celebrated his first birthday back in February this year. William’s parents lost their daughter, Elizabeth, to NH even though she received an emergency liver transplant. Like Mary, William’s mum underwent the IVIg treatment through her doctors at the hospital and with the help of Dr Whitington. William’s now doing fine thanks to the determination of his parents and the success of the treatment. Click here to read the complete article from the Wilmslow Express.

A similarly successful outcome was also published online in the Journal Prenatal Diagnosis last month. Venkat-Raman et al (see link below) report on the successful maternal intravenous immunoglobulin treatment of a woman with a previous history of NH. In this case the woman had two successive previous pregnancies where the babies had died from NH, which causes severe liver damage and excessive iron deposition in other cells in the body. Like Mary’s experience, the woman started the IVIg treatment for her latest pregnancy at week 18 and continued until an elective caesarean section at 38 weeks. The baby boy was born with elevated ferritin levels (the protein associated with iron storage) and some signs of decreased liver and coagulation function. However, all these indicators returned to normal within a couple of months and the child made an “excellent recovery”. It’s interesting that the mother received the same ‘brand’ (Sandoglobulin) of immunoglobulin as Mary and the dosage rates (6% solution at a maximum rate of 150mL/h) were also the same, hence the poor mum would have been receiving the infusion for at least 9h!. We have heard from mums where the rates of infusion are much higher hence the time taken for infusions can be as short as 3-4h.

Venkat-Raman et al concluded that the recurrence risk of NH is high but that the immunoglobulin treatment “appears to alter the course of the disease with better infant survival”.

References

• Narayanaswamy Venkat-Raman, Radha V. Venkata-Krishnan, Edmund S. Howarth, 2006, “Successful pregnancy outcome following maternal intravenous immunoglobulin treatment in a woman with recurrent perinatal haemochromatosis” Prenatal Diagnosis, Vol 26 No. 13, pp 1256-1259

 

Teyte

Andrew and Stacey contacted us a while back after they tragically lost their son Teyte to NH.  They have now set up a website (teytesmum.com) that tells their story.  Hopefully Dr Whitington’s treatment may help them have a healthy child in the future.

 

Father’s Day update

It’s been an amazing few months.  As I’ve been telling people, when I went to work during the first 8 months of Harry’s life I didn’t feel like I was missing out on too much (he didn’t really change too quickly).  But now he seems to be doing something different almost every single day.  This evening he gave us a piano performance (apologies for the injudicious video editing).

The last few weeks have also reminded us what we went through to bring Harry into the world.  A couple of other web sites are referring to our site (NHIC, blogher) and we’ve also been emailing couples who’ve been through similar experiences in Canada, New Zealand and Perth.  The tragedy is that to get to this point we’ve all lost a child.

 

Harry makes the Front Page!

In case you didn’t catch the Townsville Bulletin last week, Harry’s story made the front page. This was backed up with a great article on Page 5 (Click Here for the link to the article). There was even an editorial!

 

Harry at a perinatal conference!

NH Poster

It’s not been one of Harry’s better weeks. His ‘hospital adventure’ last week went awry when he picked up a bout of gastro. Being the caring sharing kid that he is, Mary and I were both grateful that he passed it round the family! He was back in hospital (the Mater this time) on Thursday night to have an abscess removed (poor little fella). He was finally out of hospital this evening thank goodness.

It was great to get home and check the email to find that he’s been made famous at a conference over in Perth yesterday.   Click Here for a poster of our experience which was presented at the Perinatal Society for Australia and NZ Congress.

 

Better late than never… Summary of the NH treatment experience

It's only eight months down the track but we got around to posting a summary of Mary's experience with the immunoglobulin treatment for neonatal hemochromatosis.  The theory behind the treatment can be found here.

My Experience
I received a product called Sandoglobulin, at a dose rate of 1g per kg of my body weight.  The high dosages and slow infusion rate combined to make a long and slow infusion (around 10 hours each week).  I am of average build and 168cm or 5'6''.  When my treatments first started in week 18 of the pregnancy I weighed approximately 68kgs or 150 lbs.  Over the pregnancy I put on about 8 kgs or 18 lbs.  This meant that my dosage increased from 11 bottles of the 6g of IVg to 12 bottles.

Over the course of the treatments the administration of the infusion caused much discussion between ourselves, our obstetrician, our haematologist and the oncology nurses.  Both the infusion rate and the infusion volume were sources of differences of opinion.  This had a large impact on the time taken to have the infusion.

For my own personal wellbeing, I found it very important to know what time the infusion would start and what time it would finish.  What I saw as unnecessary delays and setbacks were both upsetting and extremely frustrating, (eg at the end of each bottle I would wait up to five minutes for a nurse to become available to add an extra 10ml to the infusion,  failure of the solution to be dissolved in preparation for the administration causing the infusion to be paused).  Having said that, overall the staff and nurses in the oncology department were fantastic and without their support it would have been almost impossible to get through all of the treatments.

After about eight treatments I was really struggling with the treatment process.  The time was varying every week, I was suffering quite badly from dehydration caused by the treatment, this included headaches, the infusions made me feel very bloated and I could not see an end in sight for the treatments.  After the eighth treatment, I even ended up at the labour ward following the treatment as my chest was extremely tight and I was having really strong tightenings which severely impacted my ability to move.  I received some anti-inflammatory drug and was fine after a few days of discomfort.

The ninth treatment passed without incident, however my tenth treatment had to be stopped after 10 bottles.  I was very tight chested and suffered a reasonably mild asthma attack.  I had childhood asthma and so was very familiar with the sensation and able to help with diagnosis of what was happening.  The infusion was stopped; I received a diuretic to reduce fluid and received a dosage of ventalin via ventilation.  This relieved the asthma and the infusion was restarted and completed without further incident.

The asthma started after less than 7 bottles in the next treatment.  This time I received some hydrocortisone (a safe drug for use in pregnancy) and some more ventalin.  Once again this controlled the asthma and the infusion was restarted and completed without further incident.

From the eleventh treatment to the final treatment (21st) I have received pre-medication of hydra-cortisone and ventatlin.  This has enabled me to receive the treatment without incident.  It is also interesting to note that since I have been receiving the pre-medication I have not suffered headaches and the dehydration has been controllable.

Having spent so much time at the hospital I was pretty glad to have the final treatment.  The Volunteers who visited me every week were my saviours and I have to admit that if it wasn’t for them, I am not sure I would have lasted.  In fact I think that their company was even better than my own family and friends as they had no personal involvement in the situation.  They were wonderful.

Postscript
Harry is now eight months old.  I would undergo this treatment again in a flash!

As it turned out the 21 days I spent undergoing the treatment is the reason that Harry is alive today.  It was hard at the time, but I remained focussed and am so glad that we were given the opportunity to receive it. 

I thank everyone involved and think of you all very often.

Mary

I (Trent) thought I'd add a few words here on how the treatment worked from my perspective.

Sandoglobulin immunoglobulin

Immunoglobulin comes in a number of forms or brands. Mary was administered Sandoglobulin.  You can find a fair amount of information on Sandogloblulin on the net, but perhaps the more common brand is Intragam, which I think has been used by the majority of women who've been involved in Dr Whitington's program (though I'm not 100% sure).

I'm also not 100% sure on the difference in the products, but the obvious difference is that for approximately the same does Sandoglobulin will take over twice as long as Intragam!  This is pretty much based on the concentrations of IVIg in the product and the safe infusion rates.In our case, the Sandoglobulin arrived as a 6g crystal in a bottle, which was diluted to 100mL, making a 6% solution. This was then administered by drip at a rate of 150mL per hour. 

You can do the math… Mary weighed a bit over 70kg during the pregnancy – so at a dose of 1g/1kg, she required around 70g of IVIg or 11-12 bottles – i.e. approx 1100-1200mL of solution – and finally at the drip rate of 150mL – each treatment session should take about 8h!  Wrong!

One of the things Mary struggled with continuously was the length of time the treatment took, generally about 10h.  The extra 2h came about for a few reasons: extra time to ramp up to maximum dose rates, flushing the infusion lines with saline for 10min at the beginning and end of the session, sessions didn't always start on time, and finally (frustratingly) the fact that the bags of saline used to dilute the Sandoglobulin on average seemed to contain an extra 5-10mL.  Frustrating because this 5-10mL in each bottle amounted to an additional hour or so over the day.  In the end Mary was somehow able to put this behind her and decided that worrying about the time was pretty much a waste of time. 

Getting through the treatments

Apart from making sure you're relaxed Mary found a few other things that helped during the treatment:

• Heatpacks.  The drip is often cold below room temperature and can feel really cold going up the arm. Some of the other women involved in the study mentioned that the bottles were warmed up in hands before it was administered.  Making sure the fluid or your arm isn't cold helps.
• Blankets (as above)
• Putting your feed up, but not necessarily reclining in the chair.  As you can imagine by the time week 36 of pregnancy rolls around it's hard to get comfortable, let alone trying to be comfortable sitting in the same place for 10h!
• Visitors! the help break up the day.
• Crosswords – unfortunately only when the drip is in your non writing hand.

Reactions

When you read the list of potential side effects from Sandoglobulin it sounds scary.  The doctors assured us that the risks were low, similar to any blood transfusion where the transmission of infections (unknown forms of hepatitis) is possible.  However the risks are even lower for highly processed blood products such as Sandoglobulin.  Mary did however have a few reactions (though we can't say for sure whether they were a direct result of the treatment)

• After the 2nd session Mary developed a small rash on her hands which went away after a week and never came back.
• Headaches.  These were pretty consistent.  The treatments were on Thursdays and generally by the Friday afternoon Mary developed a headache.
• Tightness and asthma.  Mary had an asthma like reaction at about week 30, and then again the following week.  In both cases the treatment was stopped for about 1/2h before starting again after things settled down.  After the second week and discussing it with the doctors it was decided to give Mary a  hydrocortisone pre-med (100mL) before starting the treatment.  This made a huge difference, makingn getting through the treatments easier.

Oncology

The other interesting thing about the treatment delivery was that it was administered in the oncology department of the hospital.  In some ways Mary was a good news story for the nurses and patients, but it's not easy and at times was confronting.

The best thing about the treatment being administered in oncology was the people. The nursing staff were great and so to were the volunteers, who kept Mary's spirits up through the treatments.

 

NH Treatment and Research

We just discovered that Dr Whitington has just had another article published:

Whitington, P.F & Padmini, M, 2005, “Neonatal Hemochromatosis: Is It an Alloimmune Disease?”, Journal of Pediatric Gastroenterology and Nutrition, Vol 40 pp 544- 549, May 2005

Unfortunately there’s no abstract available on the internet.  So I’d recommend accessing the article through your doctor.  To date it’s the most useful paper I’ve read, so here’s my attempt to summarise what it says (along with a few explanatory comments of my own).

What is neonatal hemochromatosis (NH)?

• NH is a severe neonatal liver disease associated with iron deposition and resulting damage in other organs and tissues.
• NH has similar characteristics to hereditary hemochromatosis
• NH is considered a rare disease

What causes NH?

• Causes are still unknown.
• Some have suggested it’s a syndrome where a number of factors (infection, genetic-metabolic disease, and toxic insult) all lead to the same outcome or characteristics.
• Is it genetic? The article argues that the evidence suggests not.  The reoccurrence rate of the disease once it has appeared in one child is around 80%.  This is much higher than recurrence rates associated with recessive autosomal inheritance (the common genetic inheritance process).  In addition the disease hasn’t been observed to reoccur in family trees.
• Is it caused by infection? There is no known infectious disease that can recurrently generate the characteristics of NH.

So… the evidence led the authors to hypothesise that NH could be an alloimmune disease.  That is, a disease where the mother’s immune system generates antibodies against fetus antigens resulting in damage to the fetus.

How does an alloimmune disease cause fetal problems?
The mother generates antibodies against fetal antigens (an antigen is simply a molecule that stimulates the immune system to produce antibodies and could be any type of protein).  There are a number of mechanisms by which damage is done to the fetus when the mother’s antibodies attack the fetal antigens.

There are four classes of antibodies.  Only the immunoglobulin G (IgG) class are transported across the placenta to the fetus.  These antibodies (the IgG) provide the fetus with protection against antigens to which the fetus has not yet been exposed.  So IgG is the way that the mother helps give the fetus’ immune system a kick start.  In the case of pregnancy, alloimmune disease represents a failure of the mother’s IgG (antibodies) to recognise and respond to fetal proteins (the antigens).

Other known alloimmune diseases are hydrops fetalis and alloimmune thrombocytopenia.

How does the intravenous immunoglobulin treatment help?
The paper describes a treatment protocol for administering intravenous immunoglobulin to mothers.  The treatment protocol is a dose of 1g/kg each week (if you weigh 70kg, you’ll receive a 70g dose).   This dose is based on treatment for Rh incompatibility.

The treatment starts at week 18, since this is when active transport of IgG across the placenta starts.

It is thought that the IgG treatment potentially works via one of three mechanisms:

1. blunting the maternal immune response;
2. flooding the placental transport pathway with “good” antibodies.
3. nonspecific antibody binding limiting the number of “bad” antibodies binding to the fetal antigens

How successful has the IgG treatment protocol been?
The treatment has been used to treat 18 women through 22 pregnancies, whose most recent pregnancy had resulted in NH. Normally the disease recurs at a rate of 80% and in the vast majority of cases NH is fatal without liver transplant.

To date all 22 babies have survived!  However, 6 babies showed evidence of liver disease, and there was other evidence that the majority of the babies (17) were affected with NH.

When analysed the treatment protocol is positively correlated with improved infant survival (p=0.0009!)  The paper therefore concludes that the treatment modifies NH so that it is no longer lethal and that the results provide evidence supporting their alloimmune disease hypothesis.

Where is the research heading in the future?
The authors hypothesise that a fetal liver protein associated with iron control is the antigen that is targeted by the mother’s antibodies.

Blood samples and analysis from women in the treatment program have identified some evidence to support this hypothesis.  However the exact nature and role of the protein is yet to be determined.  Identitying and understanding this protein is the next step.

It is hoped that if the protein can be identified blood tests can be developed to diagnose NH in mothers and also help streamline preventative treatments.

 

Experiences with NH

If you go surfing the net to look for information on other family’s experiences with NH then it’s a frustratingly fruitless search.  The most useful site we found is dedicated to Katelyn Michelle Madsen.

If you’ve read our account of Ellen, you’ll be struck, as we were, by the similarities.  The early contractions – trip to the hospital – no amniotic fluid – emergency cesaerian.  There were also many differences, which highlight the many unknowns that surround NH.

I’ve often wondered whether if we’d been living in a major city and not in Mount Isa would Ellen have survived.  Perhaps her life would have been extended for a few weeks but based on all the information I’ve read the outcome would most likely have been the same.

There are a couple of other sites that families have set up:

Aiden’s Story.  Aiden survived NH thanks to a liver transplant.  One of the few recognised treatments available.  His story shows the huge emotional rollercoaster ride that you board in this situation.

Pray for Andrew.  Andrew also survived NH (I think the stories of survival are easier to tell. I wonder if I would be writing this for if I didn’t believe that the next chapter in our own story will include a miracle).  Faith in God was obviously an immense source of strenth for Andrew’s family.  I know it meant a great deal to Mary that we had people praying for Ellen, Mary and our family.    

Finally there’s a memorial page on the neonatalhemochromatosis.org web site that contains others’ stories.

 

Discovering Dr Whitington’s treatment – New Hope

The timing of Mary getting pregnant second time around was great.  We had a dating scan on the 23 December, showing that the Baby was 7 weeks, 6 days old and looking OK – or at least as OK as you can tell at 7 weeks, 6 days.

Christmas came next, and it was great to catch up with the family on the Sunshine Coast.

After we got back to Townsville, I started to think about the neonatal hemochromatosis (NH) again, it was a reasonably scary time.  Basically Mary and I had both accepted the odds; we had a 20-25% chance of delivering a healthy baby and the alternative was a child suffering from NH which would almost certainly be fatal.

On 7 January I was surfing the internet to find more information about NH and stumbled across an article by a Dr Whitington associated with NorthwesternUniversity in Chicago.  I got pretty excited about things and sent off an email to him.  The article was based on a press release discussing a paper published in the Lancet, which is a highly recognised medical journal.

Things just kept getting better (I remember thinking that 2005 was shaping up to be a very good year).  Dr Whitington responded to my email within 24 hours, he had apparently received my email while he was in the middle of writing up a grant application for continuing the very study I was asking about.  His email included details of his investigations at the time:

We have been engaged for the past 7 years in treating women during gestation to prevent recurrent lethal NH based on the hypothesis that it is an alloimmune disease. The treatment consisted of intravenous immunoglobulin derived from pooled serum of multiple donors (IVIG) administered weekly at a dose of one g/kg body weight from the 18th week until the end of gestation, which has been successfully used to lessen the severity of Rh disease.  We have chosen for treatment women whose most recent gestation was affected with proven NH in lieu of any other marker for high risk of recurrence.  These studies have been approved by the IRB of Children’s MemorialHospital.

Eighteen women have received gestational treatment.  Two women have been treated through two pregnancies each.  Twenty one babies have been born (including one set of twins), all of whom have survived with medical therapy or no therapy.  No intrauterine growth restriction (IUGR), foetal liver disease or other evidence of foetal distress could be detected in any case.  This is in stark contrast to the typical progression of NH, where severe IUGR and oligohydramnios are universal…

So far we are 100% effective in preventing lethal disease.

Obviously we were really encouraged by this information and faxed the email to our doctor at the Townsville Hospital.  Simone phoned us back on 12 January and confirmed that the research sounded exciting and that she was looking into it.

Mary was excited, but nervous.  The treatment described involves large doses of IVIg once every week and we want to be certain that we’re not putting Mary at any risk.    We still have about 6 weeks before the treatment is due to start, which should be plenty of time to sort things out.

 

Ellen Elizabeth Jordan

Ellen was born on Sunday 9 November 2003 at approximately 11:30am and died on the following day.  We’ve talked about Ellen under the “Our Story” page, which can be accessed from top of this blog.