Visitors

We had a visit this weekend from Mum and the kids, and also from our lovely friends, Di & Wattie and their daughter Rebecca, her husband Sebastian and their beautiful baby Annabelle.
It was such a lovely thing to catch up with friends, and just watch the kids run around outside in the sun and play in the wonderful playground the hospital has set up. Life almost seems normal - if only for a few hours.



There have been many people come to visit, some are reasonably local to the Children's Hospital, Others have made the trek down from the Central Coast. All have brought smiles and hugs and many warm wishes. I love when we get visitors. It gives me renewed strength to keep going.



It is funny when they arrive. They come to the ward and stand outside Harrison's room, if there are kids with them the kids faces are pressed against the glass peering through to catch a glimpse of Harrison. It makes me wonder at how when babies were born 20 odd years ago, people visited and saw the baby through the glass.

We have had such wonderful visits, and many coffee's and to all those who made the trip here to see us - Thanks.

There are also those who could not visit - or chose not to due to illness and not wanting to bring it near Harrison. We thank you too. Without your kind words via email, phone or sms, life would not have remained as normal as it has while we have been here.

Thank you all - for the coming here in the first place, for giving us your warm wishes, for giving us lots of yummy food, coffee, chocolate and keeping me well read! The generosity, love and support have truly made a difference. Next post is about going home ... :)

Bone Marrow Transplant and Blood Products

I thought it would be good to include a bit on bone marrow and the blood products Harrison has received. We all see the adverts that ask us to Donate, but here are some interesting facts about why this is really such an important thing. Without these donations of blood products (Intragam and Albumin), Harrison quite simply would not be here.

BONE MARROW - The Australian Bone Marrow Donor Registry has some interesting facts about Bone Marrow and is part of a world wide donor registry. We were very lucky to have Ella match Harrison, but think about this...
From - http://www.abmdr.org.au/Default.htm

Many Australians each year are diagnosed with having leukemia or other fatal blood disorders. A bone marrow (or haemopoietic stem cells) transplant is the only possibility of cure for many of these patients. Donors need to be specifically matched to the patient which can make it very difficult to find a donor for certain patients with rare tissue typing. Only 1 in 1000 donors will be a match for a patient requiring a transplant in any given year.

Siblings are the ideal donor for a patient in need of a bone marrow (or haemopoietic stem cells) transplant, but only one patient in three will find a matched donor within their family. The other two in three patients rely on the ABMDR or other international registries to find them a suitable match.

A person's tissue type is directly related to his or her ethnic origin. Australia needs donors who reflects the many different communities. Without this it becomes difficult to find matched donors of non-European or mixed ethnic backgrounds. (See "National Management Board Discussion Paper --- Review of the Registry Size and Composition")

The ABMDR is the tenth largest registry in the world. Within Australia, the Registry is comprised of:

• Transplant Centres

• State Donor Centres

• Tissue Typing Laboratories

• Apheresis Centres

• Marrow Collection Centres

• Tissue Repository"

The process

To test the compatibility of a donor’s marrow with a patient’s marrow, a small sample of blood is drawn from the potential donor and patient. An HLA (human leucocyte antigen) tissue typing test is performed to determine if the "antigens" or markers on the white blood cells of the donor match those on the patient’s white blood cells.

Each person’s bone marrow has distinct genetic characteristics, half of which are inherited from their mother, the other half from their father. A patient with an identical twin has a ready made donor of perfectly matched bone marrow. Many however, will need to find another person related or unrelated, whose bone marrow matches their own.

In a bone marrow transplant, the patient’s diseased bone marrow is destroyed and healthy marrow is infused into the patient’s bloodstream. In a successful transplant the new bone marrow migrates to the cavities of the large bones, engrafts and begins producing normal blood cells.

The new bone marrow infused into the patient must match the genetic makeup of the patient’s own marrow as perfectly as possible. If the new bone marrow is not a good match, it will recognize the patient’s body as foreign material to be attacked and destroyed. This condition is known as graft versus host disease (GVHD), and can be life threatening.

Harrison shows no signs of GvHd at present which is very encouraging indeed... Ella was identified as a "perfect" match with 6 out of 6 HLA matched.

When Is a Transplant Possible

A successful transplant not only requires matched bone marrow but a patient who is healthy enough to undergo the transplant procedure. A medical physician will determine whether a patient should undergo a transplant, by examining the patient’s:

• Age

• General physical condition

• Diagnosis, and

• The stage of the disease

In most patients, their own marrow must be destroyed (called conditioning), then the new donor (healthy) marrow is infused into the patient’s bloodstream over several hours. Unlike other transplants, a bone marrow transplant is performed in the patient’s hospital room. And for Harrison in particular because he did not have immunity before the transplant he did not have any conditioning.

It may take 3 to 4 weeks for the new bone marrow to engraft and begin producing healthy blood cells. The patient remains in the hospital until a sufficient number of healthy new red blood cells, white blood cells, and platelets are being produced by the new bone marrow. It usually takes 4 to 8 weeks before the patient’s immune system is able to defend itself against infection and bleeding.

So far we have not seen any changes after 16 days.

There are several complications that may result from the transplant. These include:

* Rejection

* Graft versus Host Disease (GVHD)

* Infection, and

* Relapse

GvHD is the most problematic, as this can cause death as the new donor cells start attacking the patient's organ as they don't recognise them.

A lot more detailed info can be viewed at http://www.abmdr.org.au/brochure_recip.htm

Intragam - This is the plasma that Harrison receives (IVIG) that gives him a top up of immunoglobulins, which helps keep him healthy and enables him to fight infection - to a degree anyway.

The Australian Red Cross website says this about Intragam and Albumin:

The majority of donated plasma is processed by the Australian plasma fractionator, CSL Bioplasma Ltd, to make a variety of products that the Blood Service distributes to hospitals. These products include:

Intragam

Intragam is used to boost the immune system and in the treatment of some muscle and nerve conditions.

Albumex 20

A concentrated solution of the main blood protein, albumin, present in human plasma, Albumex 20 is used in the correction of protein deficiency sometimes associated with kidney and liver diseases.

http://www.donateblood.com.au - visit the Australian Red Cross Website for more info.

We have been very lucky with Harrison and obtaining blood products for him, and he will continue to require further Intragam (IVIG) infusions every 4 weeks - or until his bone marrow transplant is shown to be a success. Either way there are many anonymous donors out there that have made this possible thanks to their life giving donations of blood.

Fun Stuff

We had some good fun stuff happen while in hospital.

We met the clown doctors, Dr's O-Oh yesterday. Ella was a bit freaked out by them - but they were generally very funny. Plus there is Captain Starlight - who runs the Starlight room and TV channel. Captain Starlight is a wonderful source of entertainment and movies to the kids, and is an excellent way of encouraging children to get better with a little fun in their day.

We had two lots of American sailors come and visit the hospital, and while Harrison didn't seem overly thrilled, I found it was VERY entertaining.. Hey I can look but not touch.

As part of the process in deciding how on earth Scott and I both carry ADA, we got asked many, many times if we were related. Apparently there are some cultures that marry first and second cousins, so the doctors have to ask, but as far as kissing cousins go - well most of my cousins are female anyway, and those that are not are FAR too young for my tastes!! ha ha. I do have to say though that I was seriously amazed how many times I was asked.

It has long been a running joke with one of my friends that I said I would marry a Scot. Meaning Scottish man - however apparently I was a little bit too literal and I have myself a Scott. I wouldn't change my Scott for the world, however, just in case - I have decided that next time I will be much more careful what I wish for !! :)

My lovely aunt also dobbed us in for a visit from our favourite NRL ( that's Rugby League) football team to visit. The mighty Parramatta Eels... I am awaiting pictures of this and will post them when I have them. They were lovely and were allowed to gown and mask and have a photo with Harrison in his room.

Not only did they visit but they presented Harrison with a fully signed football jersey - signed by the whole team. The guys that visited were Tim Smith, Ian Hindmarsh and Ben Smith. It was really awesome to have these guys visit, showing the lovely nature these guys have in putting something back into their community.

I am also owe a debt of gratitude to the Steve Waugh Foundation for providing a weekly massage service for caregivers and parents. I managed to have one a week ago, and after sleeping on the fold out bed in the ward this was pure bliss. It was the idea of this foundation to give something to the carers and keep them healthy as they do most of the work with their kids, and if they get sick then so do the kids.

Post Transplant - What happens now?

Well transplant is all done, and Harrison has jumped ahead in leaps and bounds. This post will bring you up to date with the last two weeks post transplant.

Harrison has started smiling more every day, he is happier than I have ever seen him and is "talking", squealing (on occasion) and laughing.

He has twice weekly blood tests. Already we have seen an improvement in his liver enzymes. Everything else is stable.

We were told that we'd be in hospital for a month post transplant to ensure the graft starts to take, but Harrison is doing so well we get to go home a week earlier than planned. Harrison since transplant has gained 640grams, which equates to 1.4 pound. This is excellent progress - even for a baby who doesn't have SCID and quite unexpected. Harrison will go home with Neocate formula - and will be breastfed. The neocate will help him with the extra calories he needs to continue to grow properly. He is on Neocate as it is very elemental formula and is more easily absorbed due to his blunted bowel villi.

He will continue with weekly bloods and will see our pediatrician at home for two visits, and will be back to hospital between times. The doctors have planned for us to go home on Friday 3rd August 2007.
Harrison will have his next IVIG on 2nd August, and be back to the hospital on the 10th August for his 30 day chimerism blood tests.. This test will hopefully start to show some of Ella's cells floating around Harrison's system.

One of the cool things in Ella being his donor - she is a girl, so they transplant girls cells into boy body. It makes it very easy for the doctors to see these girl cells in action when they test for it.

As for the future, well we have started early intervention stuff, black and white prints for Harrison's eyes and musical toys that promote his interests. Because he goes home with the central line in I will learn how to change over the dressing and take care of this.

Then we come back on 30th August for IVIG again, 28th September for his hearing tests and for more chimerism tests, plus I think that is IVIG time again - if needed.

He also goes home on a couple of medications - Bactrim for his chest - to prevent another infection and flucloxycillin and anti fungal for his candida on his tongue.

Long term is still a mystery. During the week leading up to the BMT, we were given a sheet of information about neurological problems ADA kids can have. It was a rather daunting list. Harrison shows signs already with the nystagmus. Unfortunately this is not the only possible problem, so we will watch and wait to see what happens with him. The Neurology team are closely monitoring Harrison for any adverse developments, and will perform tests once he is 6 months old to ascertain his eye problems and anything else they think may be happening.

For now I remain hopeful, in that we had a lucky break with BMT, the nystagmus has settled, and Harrison seems to be developing along at a close to normal rate. Maybe we will be a lucky family. Evidence suggests that kids go one of two ways - no problems or a number of interrelated problems.

He had the ribs that will need to be reviewed too, seeing if they have healed. But, given Harrison's unusual history and presentation in the start, maybe he'll be different and we look at a middle ground with him.

Whatever the future holds, Harrison is going home. He is healthy and happy. What more can a parent ask for.

A quick lesson in blood cells, ADA and SCID

I thought now would be a good time to tell you all about the various types of blood cells we have in our blood.

Bone Marrow - this is the source of our immune cells. Ella's bone marrow will gradually overtake Harrison's, and the ideal result will be he produces white cells that have ADA enzyme. Ella only has a 0.5 count which is slightly below normal range of (0.6 - 1.6) - but even a small amount of enzyme will give Harrison immunity.

ADA Enzyme - this is the enzyme present in the blood, and is vitally important for cellular function and metabolism. Without it toxins build up in the lymphocytes causing them to die off - thus no immunity. It is also an enzyme that is important for brain metabolic function.

T-lymphocytes and B-lymphocytes. T-lymphocytes are matured in the Thymus Gland (Harrison's thymus is not evident on the chest x-rays he has had) and go around fighting different viruses. The B-lymphocytes are further defined into different cells called immunoglobulins. These are antibodies and fight infection. Everyone has many different types of immunoglobulins to fight different types of infections. Namely IgG, IgA, IgM and IgE - plus a couple others. Harrison has a small amount of IgM, but not A or G - so the IVIG (Intragam) infusion replaces these for now.

Without ADA a child then develops SCID. SCID means Severe Combined Immune Deficient. What this means is that Harrison has hardly any T or B-lymphocytes (white blood cells) and as a result can not fight any virus or bacteria that comes his way. Isolation was the key to keeping Harrison well. No contact with the outside world kept him well enough to undergo BMT.

Due to this being a metabolic problem as much as it is SCID, Harrison has toxins in his body that can inhibit his organs and because of this it is one of the more troublesome types of SCIDs.

ADA is a very rare genetic disorder. It is autosomal recessive meaning that as his parents, Scott and I carry the gene that causes ADA and we both pass on this recessive gene causing Harrison to be ADA deficient. I previously outlined statistics, but the statistics for baby to be born with with ADA is one child in every two million(based on figures from the USA). Australian population is considerably smaller than the US and Canada, and we have only ever had three or four cases of ADA deficiency diagnosed in Australia. The exact number is hard to track down as Harrison is the only one on the PID register (Primary Immune Deficiency). The chances that we will have a child with ADA is one in four. The chances of a child that is NOT a carrier or affected is also one in four. and to have kids who are carriers is a one in two chance.

As it turns out we fit the scientific model nicely.
Child 1 - Not a carrier and not affected - Marlie
Child 2 and 3 - Carrier but not affected - Sterling and Ella
Child 4 - Affected - Harrison.

Of course not all families work this way - some families have a number of children affected. We were just lucky. We were also offered genetic counselling and offered testing so that if we were to have more children then we could go through IVF and have a baby not affected.

Given Harrison is our definite last child we won't need to go through all of that, but I can certainly understand what it will take for a family that will.

Transplant Day - 12th July 2007

The day arrives in the normal way - Harrison crying hungrily for a feed.

I message Scott on the phone to get Ella ready and we go up together with her to register for her day surgery. She was placed on the emergency list so we got there early so we didn't miss a window.

Lyn, the ward granny came today and sat with Harrison while Scott and I sat with Ella.

At 10 am I went up to feed Harrison on the ward, just after Ella was called in for surgery. Scott took her in and sat with her while she went off to sleep. I am very thankful that she did so without a fight. I am not sure Scott would have coped as well.

We then went and had a walk around until she was out in recovery. They told us an hour, Nearly two hours after she went in we got the callup!
She was out. Mum just arrived down from home in time to see her in recovery.

She slept for ages post surgery, but was so brave. There were two needle marks in her skin where they inserted needles for bone marrow harvest, but in the bones of her hips they actually collected for 4 or 5 sites each side.

She had pressure bandages across her back and was a little pale but otherwise okay. When Ella awoke properly she laid there drinking apple juice and then had some of her bottle to drink.

An hour later we were out of recovery and we took Ella down to our room for a bit of R n R until 4 pm when the doctors would see her and make sure she was safe to travel home post surgery.

2pm - We get a call to say that the bone marrow is on the ward and being prepared for transplant. It is amazing that it just looks like a blood transfusion bag, however has the very cells enclosed that Harrison needs for a chance at a normal life.

We were told that Ella's marrow was so cellular that they stored away some of the cells for a second transplant, if needed. It is wonderful to know that Ella was so truly well and that her count was excellent. It makes me hope for the best result with Harrison.

Then the transplant begins, and will take 4 hours to infuse into Harrison.

The little bag of cells contained about 90 mls of cells. Left Preparation below transplant in action.


Almost immediately after the transplant Harrison looked pinker in colour. The next day he seemed happier too.

The Week Leading to Bone Marrow Transplant

Starting from 6th July.

Last week was all about the eye problems and the hearing, this week is all about bone marrow. Transplant talk, blood tests and assessments.

On Friday 6th July 2007, Harrison had the third lot of IVIG. I noticed as did all the doctors that his nystagmus settled after this lot, so maybe that is the key - get his immunoglobulins up and the nystagmus may improve? We can only live in hope.

Harrison had a pretty uneventful weekend after this - but because he was feeling so much better I gave him some tummy time. He did very well! I have included a little bit of footage from the video on my mobile phone on the home page of the blog.

Then Monday 9th July came around, Ella's confirmatory tissue typing came back confirming the 6 on 6 HLA match.

Mum brought the kids down on the 10th for a visit, Ella saw the independent pediatrician. He reviewed her health, and her vitals, making sure that he was confident she was suited to being a BM donor. He was very happy with her generally and as her advocate for the procedure, signed off that she was well suited.

More forms to then sign, forms about the transplant, for testing , for post transplant testing, for addition to a study that was being done here for no pre treatment of BMT and for a genetics study by Dr Hershfield in the USA on ADA deficiency.

The 10th was also a funny day - we were driving on one of my rare visits out of the hospital, down to Parramatta Westfield (a 5 min drive) when Sterling said Parramatta Eels. It was so cute, and again there is a video of this on the front page.

Next was the pre operative day Wednesday 11th July 2007.

Due to the fact that Harrison has SCID and Ella is such a great match for Harrison, the doctors did not conduct any pre-treatment on Harrison.

Generally, patients are first given drugs like busulphan, to "kill" off any bone marrow they have so that the donor bone marrow when transplanted doesn't attack the cells of the recipient. If that was to happen it is called GvHD - Graft versus Host Disease, and is very serious. Drugs like cyclosporin are then given post transplant to help stop this. Unfortunately these same drugs can make kids quite sick. We were lucky enough not to have to have this done. Harrison therefore pre transplant is as well as he can be.

With one exception, the doctors needed a line into a strong vein to perform the transplant. One so they knew the cells wouldn't leak out into his body and two so that they can take bloods easily post transplant to see how things are progressing.

Harrison has general anaesthetic and the central line is put in. They also perform a lumbar punch to be sure that he has not got any viruses in his spinal fluid which may be upset by the transplant.

All looks good.
The line they put in is called a central line and has two lumen's protruding from them. This line will be in for at least 6 months post transplant.

It is through this that he will be connected to receive the bone marrow transplant. Basically it will look like a blood transfusion.

Ella is scheduled to come down and stay overnight on 11th and will stay with Scott in our long stay accommodation, she will be nil by mouth from midnight until her op is over.

I have to say I am very nervous about this and I don't know how Scott went but I hardly slept a wink - from a mixture of excitement and worry.

Homage to Our Family and Friends

THANK YOU!!!

Thank you to all of our friends and family. Your kind words of love and support have meant the world to us.

It wasn't until Harrison got sick that we came to realise just how lucky we are for the family we have and for the amazingly strong and large support network of our friends.

Friends came back into our lives that, due to the passage of time and distance, had not been contacted. Friends brought food, drinks, love, hugs, support and most of all hope - by offering us kind words and thoughts.

It is through the actions of al of our friends that we came to realise just how lucky we truly are and blessed to have so many friends both at home on the Central Coast of NSW and all over Sydney and Australia.

Distance may keep us apart but we know that you are with us in spirit.

Thank you :)

Life on the Ward

Its funny what happiness means, for me when I had Harrison I had a sense of completeness. His being born was a miracle in itself, having been lucky enough to maintain a pregnancy even after the insertion of an IUD.

It frustrates me to this day that no amount of cuddles, kisses, wishes and feeding will change what Harrison has, but I hope it helps. I feel helpless on an almost daily basis to be unable to "make it right". I know though that Harrison needs me and in that sense, it feels like I am helping him.

I remember watching Steel Magnolias just after Harrison was diagnosed, Sally Field plays the mother role in this movie. When she is at her daughters funeral she suddenly screams in rage, "I want to know why?" ... That about sums it up for me.

Why are the other 3 kids so healthy and my baby so sick, did I cause this to happen, why him and not me, why, why, why ? And I still ask why - even when I have all the answers. The truth is some days life's just not fair. So instead of screaming why?, I put on a smile and live for the day, as every day with Harrison is a blessing.

Life on the ward, what can you say. Because of Harrison's lack of immunity, my daily dressing includes gowning and masking. Not much can be expressed with the eyes and eyebrows alone. I can tell now though when someone smiles at me - just by the crease of the eyes, and the light that comes into someones eyes when they give you a smile.

Initially we had hot, sticky, plastic yellow gowns to be wearing, and masks that made it uncomfortable to breathe. If you've ever worn a face mask you'll understand, because they are the most unpleasant thing. It makes me very thankful to have tic tacs, cause it can get pretty woofy under the mask without them!!

One of the things I used to forget was to take the mask off when I walked out of the room. I often found myself walking down the hall to the parents room to grab a coffee and lunch, would smile at a nurse or another mum and would think, gosh they didn't smile back?? Then I'd realise - Oops - left the mask on again!

The other problem I found with that was that Harrison couldn't really see faces, and I often thought, how will he learn to smile if he can't see people smiling at him? So every so often, I would sneak the mask down to my chin - as per the photo, and smile at Harrison, just so he could see my face for a time. I also changed from the hot yellow gowns to surgical gowns, as the yellow ones made breastfeeding rather difficult.

I guess for me this hospitalisation has been the hardest thing to come to grips with - being away from home, at a hospital far away from family and friends and being in isolation room away from people in general. I have a new found appreciation of what it would be like to live life in a gold-fish bowl. People walking past the window staring into your room, tapping on the glass and pointing and talking about you, even though you can see they are there and talking!

It is also one of the lonliest places to be. Me and Harrison - mostly, with the exception of Scott and the odd Doctor or nurse coming in. Because we live so far away, I stay at the hospital with Harrison, 24 hours a day 7 days a week. Since our transfer to Westmead hospital I have not been home, and have only had one night where I didn't sleep on the ward.

That night the children and I stayed at Ronald McDonald House while mum slept in with Harrison. I can tell you it was not enough. One night with the kids and I was more homesick than ever. But I continued on, because I couldn't leave Harrison by himself, and felt guilty even leaving him in the room alone while I went to grab a bite to eat. Eventually we got a hostel room, where the kids could come and stay and play. But I still only got down there a few times a week for a hot shower and to change over clothes and do more washing. My mind never truly leaves Harrison's room though.

I am extremely grateful for the little things. My cousin Jenna came to the hospital daily for the first 2 weeks, bringing me in hot dinners every night and being so wonderful in general. It was Jenna who was here when I fell apart, and she just stood there and hugged me while I cried and cried, not knowing why. She bought me food, coffee, magazines and the DVD player. My sanity. I watched funny movies that made me forget, albeit temporarily, how sick Harrison was. I can never thank Jen enough for her help and love and support, because there were days that I felt I could no longer cope, and after her visits I always felt renewed. She still continues to bring me lovely soups, coffees and chocolates from the Starbucks down stairs!

Then there is the ward granny, Lyn. She comes a couple of times a week (since the beginning of July) and is trained to sit with kids who have cancer and had BMT. She allows me the space to get out - spend time with the kids, do food shopping and go to my room for a sleep catchup and clothes wash session. More recently I even ventured out to get a hair cut and colour - and I tell you the saying "a change is good as a holiday", so true!

Time seems to just vanish, and privacy is a non existent thing- refer to the Gold fish bowl bit!!. Even when you pull the curtains, someone still walks in.

I do love though - that even though it is forced, I have really had a wonderful time getting to know Harrison. It is like being a first time mum again. I love to read to him, sing to him - luckily I know the words to the Wiggles Big Red Car - as that has gotten me out of many a jam! It must have looked funny, me bouncing Harrison around the room while singing to him from behind the mask... I tended to forget people could see in through the glass!! Lol

And I love how close I am to him. I know when I am away from the room when he is waking up, I love the special us time we get with breastfeeding, and I was devastated when I was told I couldn't feed him anymore. Outwardly I smiled and said - "whatever is best for my baby" but inside I felt like screaming. Even now that I am breastfeeding him again, it still brings tears to my eyes.

Its like when the doctors came to me on that Monday morning, telling me he has ADA SCID and he'd need a bone marrow transplant to save his life. Being here on my own most of the time has meant I have had to be the first one to hear the bad news, to deal with the decisions and sign the forms for yet another General Anaesthetic and lumbar punch, to hold Harrison down for the umpteenth time that week for a blood test to be taken, and to settle him back to sleep when he is awoken by a nurse or doctor just as soon as he has fallen asleep.

Most of all I miss home, I miss my kids, I miss being able to feed Harrison and cuddle up to one of the kids on the lounge at the same time, to even just read them a book. But I am also so very truly thankful. We have amazing technology that allows me to Video call the kids and bid them goodnight, and computer access so that I could research every new term the doctors gave me and to email all of our family and friends with updates. I must have nearly driven the medical staff mad with my questions that arose from my research!! Also without the wonderful help and support and care at Westmead Children's Hospital, Harrison may not be here now, and that is the most important thing. For without him life would not be complete.

Scott, Mum and the kids

For those of you who know us well, you know we have four children, with Harrison being our youngest. I decided to focus on these guys for this post, as I feel that they are a credit unto themselves.

Mum took them in under her wing, and for the first two weeks they lived over at mum's house. When we realised how long we'd be in hospital with Harrison, Mum moved into our house.

Marlie is now 5 - her birthday party was held the morning of Harrison's admission to hospital. I deliberately, and in some ways, with a set of blinkers on to Harrison's worsening condition, still went ahead. My gut instinct said this would be the last party for a while. I am glad I did carry on - as I haven't been home since that day on 26th May. She has coped so well with everything, with a few 5 year old tantrums along the way, but has really been so good in general

Marlie has basically taught herself to write, with a little help from preschool and me. She has created many beautiful cards, and works of art - Many of which I have hanging around the room. It is these works of art and loving drawn cards and get well signs that have kept me going.
Sterling - well what can I say about Sterling. He is a gorgeous, funny 3 year old boy who loves bikes, Thomas and football. He is just such a funny kid, and very much the one who has struggled the most with Mum being away at Hospital with Harrison. He has also been the one that I have noticed to be growing up the quickest. Every time I talk to him on the phone a new word or phrase is said. My absolute favourite is how he has taken on mum's wording of "Oh My Goodness". It is said with such a cheeky smile. He too has done beautiful art work, and I know that these are special - as he was never really into art or craft before hospital.

Of the three of them as time goes on, he is dealing with the time and coming for visits the best.

Then there is Ella. Our beautiful little 2 year old, and Harrison's Bone Marrow donor. She has graciously undergone testing, being dragged around from one test to a doctors visit, and has barely shed a tear. I know if it were me - well I would have told me to get lost many times over, but not Ella. My only regret is putting her through this at all. She is so little and is now and will forever remain my hero.

Mum brought me in a photo of the 3 of them at preschool, which I have hung above Harrison's cot, to remind me of what I have waiting for me at home.

In all of this Mum and Scott have taken over. Mum does the day to day running around kids to preschool, cooking and general motherly stuff, while Scott has really picked up the reins and has become the Dad I always knew he could be. I spend my days here dealing with doctors and hospital. I used to spend my days looking after the kids, cleaning and paying bills. Scott does all the bills now, does much cleaning and has really stepped up to being there for the kids.

I am so proud of my mum and Scott. They are both still working full time, looking after the kids and running back and forth to the hospital whenever they can so I get to to see them and the kids as much as we can manage.

Mum has just been my tower of strength, she is my mum, always there for us - never thinking of herself only giving of herself what she can, and then some. She is the person who I most look up to in life, because she manages to smile and give me strength, even through her owns tears.

Scott has been here with me - a man who hates hospital and who struggled to be there in labour room for the good part of hospital stays, he has shown me how much he has grown. He took Ella in for he BM operation, stayed for days at a time here in the hospital during the early days, and when all things are said and done has been strong when I thought he would not cope, and coped better than he realises.

While there are certainly tough times ahead, I have come to realise one undeniable truth, that is how much I love and depend on these two people, for without both of them I would not have been able to cope as I have and without them I would be only half of the person I am today.

I will never take anything for granted again. Life is just far to precious.

Retinitis Pigmentosa and Hearing Loss

As I have said Harrison has also been diagnosed with Retinitis Pigmentosa (RP) and failed his hearing test.

The hearing test was repeated with a bone conduction, to bypass any congestion Harrison had in the ear canal. He has what they are currently terming mixed moderate hearing loss. More tests are still needed to determine the extent of this though, and will be done under a light sedation after the BMT has been done.

RP is a genetic eye condition that causes the light-sensitive retina, at the back of the eye, to degenerate slowly and progressively and in some cases causes blindness. This is also to be further reviewed, post transplant.

It is very rare that a baby has such obvious pigmentation problems, but it is estimated that 1 in 3000 people have RP in Australia.

So far there are no indications that RP is caused by ADA deficiency, and so our doctors are researching now to see if this is a possibility.

What does this mean for us? Well a few challenges lie ahead in terms of Harrison's development - but we hope to get involvement from the Royal Blind Society for early intervention so that we can use the best possible methods to get Harrison developing at a reasonably normal rate.

Harrison learns to smile

Its the end of June and despite all the little problems and impending BMT, Harrison has learned to smile. It is lovely to see him just look and act like a normal baby. He is now generally well, and is feeding well.

His complimentary feeds have reduced to only about 20- 40 ml per feed as my milk supply came back very well. I am encouraged by this as I know that he is getting, even in very small doses, some antibodies from me - and hopefully this is helping to keep him well. That and the continued masking and gowning in the room.

There is also the preparation going along at a rate of knotts for BMT. Ella's confirmation came back as all good, the various reviews came back and it is all set for the 12th July 2007. Ella will come into hospital for day surgery, have the bone marrow collected and will go home later that same day.

The bone marrow is then taken to the lab and tested for its cell count, readied for transplant and brought back to the children's hospital for the transplant to take place.

6th July - Harrison has another IVIG to top him up pre transplant. He has also had another MRI done to review the eyes problem 0-checking again the brain and fluids. He also has a series of lumbar punches done to ensure there is not a viral infection in the spinal fluids causing his brain to have problems and therefore the eye movements.

All seems to be ok in this regard, although his brain size is a little smaller than average - which can be attributed to ADA deficiency.

The Agony and the Ectasy

Ella is diagnosed as a suitable donor for Harrison for Bone Marrow Transplant (BMT).

Ella is scheduled to undergo tests and reviews by medical staff for her suitability as a donor. I feel so guilty that Ella is coming down to the hospital for a visit and winds up being tested for something else. She;ll eventually not want to come.

My guilt is two fold, as I fell so happy that we are lucky enough to have a suitable BMT match for Harrison, as many families don't and then wait for a donor or search family members for a partial match. On the other hand there was the guilt of making the decision to have Ella donate and put her through the pain of a bone marrow aspiration ( where they collect the bone marrow from her hip bones).

I feel so confident that we can retell this story to all the kids in years to come and help them all to realise how important they are and how much we love them for going through the testing and then the operation for Ella, to help save Harrison's life.

Once the initial confirmation was in there were more detailed blood tests that had to be done to confirm blood grouping, for both Ella and Harrison. This tests will take a week to come back.

It is now the 30th June and we are full swing into doctors reviews and just waiting on the blood tests results to come back for the confirmatory tissue typing.

Unfortunately Harrison develops a problem with his eyes. He has a rapid up and down eye movement start to develop.

The neurology and Opthamology teams are called in. They confirm that this eye movement (pendular nystagmus) is uncommon- but is known to be linked to ADA deficiency.

More tests, are ordered, including an EEG to monitor his brain activity when the eye movements happen, and a hearing test, as he doesn't seem to respond well to sound when prompted. They also dilate the eyes to look into the eyes to see if there is any inflammation.

The EEG is clear, no signs of epilepsy causing the movements, but the hearing teat ( Similar to the newborn screening test) is failed. Then the Opthamologist notices that Harrison's retina pigmentation is patchy. He also has a squint ( turned out eye).

A second hearing test is scheduled and the doctors confirm that Harrison has Retinitis Pigmentosa.

Diagnosed with ADA and SCID

As the last post told, we found out on the 18th June that Harrison has SCID, caused due to the deficiency of ADA enzyme in his blood.

ADA deficiency is one form of SCID (severe combined immunodeficiency), a type of disorder that affects the immune system. ADA deficiency is very rare, but very dangerous, because a malfunctioning immune system leaves the body open to infection from bacteria and viruses.

The oridnary common cold is potentially lethal to those who suffer from ADA deficiency and SCID.

The disease is caused by a mutation in a gene which codes for the enzyme adenosine deaminase (ADA). Without this enzyme, the body is unable to break down a toxic substance called deoxyadenosine. The toxin builds up and destroys infection-fighting immune cells called T and B lymphocytes. The T-lymphocytes are matured in the Thymus Gland and go around fighting different viruses. The B-lymphocytes are divided further into different cells called immunoglobulins. These are antibodies and fight infection. Harrison's thymus gland is not able to be seen on an x-ray which is a classic sign of SCID.

ADA deficiency is an autosomal recessive disorder. Both parents need to pass the defective gene to their child in order for that child to inherit the deficiency. It is the ADA deficiency that in turn causes SCID.

Because ADA deficiency affects the immune system, people who have the disorder are more susceptible to all kinds of infections, particularly those of the skin, respiratory system, and gastrointestinal tract. They may also be shorter than normal. Sadly, most babies who are born with the disorder die within a few months.

How is ADA deficiency treated? There is no real cure, but some treatments include bone marrow transplant, transfusions of red blood cells, enzyme replacement therapy, gene therapy and transfusions of IG (immunoglobulins).

Interesting facts about ADA Deficiency - ADA deficiency is extremely rare. Only about 1 child in 2 million are affected. Australia have only ever had a handful of cases of ADA - SCID.

Harrison is the first child to be diagnosed with ADA deficiency at the Children's Hospital at Westmead. We are lucky enough to be cared for by a Professor who had diagnosed one other case of this himself.

We are also very lucky that the medical staff at both Gosford and Westmead Kids are so thorough. They picked up that Harrison had ADA deficiency before he started to get repeated infections. I really feel it is because of them that we have Harrison here today and that he was diagnosed so early in the piece. Many kids aren't identified until they are around 6 months old, and who knows what damage can be done in that time with no enzyme to do its job? I don't know how I will ever thank them for all that was done, and I am sure they will continue to do. Hopefully I will find a way to do it one day :)

I had not let my milk supply go, so we started to rebuild my milk supply and complimentary feed Harrison on formula. His weight slowly started to climb again. And his oxygen stats improved so that he was also weaned off oxygen. Harrison was given a dose of Intragam (IVIG) - immunoglobulin transfusion to help boost his immune system. He seemed to pick up a little from the transfusion.

So we are here, with a diagnosis- finally.. and we now go through the hardest part to date. Tissue typing tests to see if the kids are a donor match for Harrison for bone marrow transplant, typing Scott and I for our HLA (antigens), and testing for all of us to see what ADA levels we all have.

A long weeks wait saw that Scott and I are both carriers. Together we had a 1 in 4 chance of having an ADA deficient child. Harrison is the only one affected, while Marlie (5) is unaffected, Sterling (3) and Ella (2) are both carriers but otherwise unaffected.

The other good news from this - Ella is a perfect HLA match - meaning that they matched on all 6 antigens.

Lets Start At the Very Beginning (Its a very good place to start)

This is the first of no doubt, many posts re Harrison.
Let's go back through his history.
Harrison was born on Tuesday 6th March 2007 at 10.10 am - (Ella his 2 year old sister was also born at 10.10am.. Possibly a coincidence? You will later come to find that she also perfectly matched Harrison as a Bone Marrow donor!)
Harrison seemed fine, at birth. He grew, fed and gained weight well until he was 5 weeks old with no complications.
At 5 weeks Harrison developed an abscess on his bottom cheek (known as a perianal abscess).
We had a couple of trips to the Children's Hospital at Westmead NSW to have this operated on. May 24th was meant to be the surgery day, however Harrison had developed a temperature and a cough, so the operation was delayed.

By the 27th May Harrison was admitted to hospital with suspected meningitis, fevers and vomiting. He was poorly feeding and very stiff. By 30th May Harrison had developed oedema and had a chest infection. Chest x-rays taken showed there to be fluid on the lungs consistent with PCP (Pneumocystis Carinii), and showed abnormalities on his rib cage. We were still at Gosford hospital at this time.

A lumbar punch was taken that while it looked ok, showed a high white blood cell count, indicating that there probably was some disease. But no bug grew from the culture, so we could never be sure if it was a viral or bacterial meningitis he suffered.

Next Harrison had his first general anaesthetic, for an MRI of his brain and to have to put in a femoral line (a type of canula that goies into the femoral vein instead of the canula in the hand). The MRI seemed clear.

We were transferred 2 days later, the 1st June, to the Children's Hospital. We were put into an isolation room, where we had to mask, gown and glove and where we had no visitors unless authorised by medical staff.

Harrison had a few complications at the time which made his diagnosis for a particular disorder hard, as he had swelling, protein loss from his blood, poor immunoglobluin cells and his lymphocyte count was down. I will explain these a little later.

Initially due to the complications and not having any test result back that showed a definitie immune deficiency, the doctors started to think Harrison had Lymphangiectasia (pronounced Lym-fan-jek-tasia), or a leaking Lymphatic system. This could have attributed his many symptoms.

So we began having tests, that would hopefully prove the diagnosis of Lymphangiectasia which included bowel biopsy, CT scan, nuclear medicine scan, cardio echo gram (heart ultrasound) and ECG.

The only problem that was discovered from all these tests was that the bowel villi (the little cells that absorb nutrients into the body via the bowel wall) were a bit blunted.

By now I had been told to stop breastfeeding as the milk could not be easily absobed by Harrison. He lost weight - quickly. He went from 5.1 kg to 4.78kg in a few days.

Then we got the news we most dreaded. A blood test result came back showing Harrison had no ADA enzyme in his blood. This confirmed our worst fears, he had SCID (Severe Combined Immune Deficiency) a potentially life threatening illness. This was Monday the 18th June 2007. Harrison was a day off 15 weeks ( or 3.5 months old).