Resources

Patient Support Services

This section includes forms and applications for families to apply for special grants and assistance to deal with exceptional or challenging circumstances, over and above what we provide for all our families.

About Blood and Organ Donation

Save a life - Become a Blood or Organ donor


Organ Donation Saves Lives - Know Your Options  - an excellent guide written by Ellen McRae as an introduction to this topic. Written for the UK this article is definately worth a read as it explains eligibility for donors,statistics about the number of people in need of transplants ( based on the UK) , and quantifies the number of recipients assisted be each donation.
https://www.directline.com/life-cover/organ-donation#waiting-for-a-transplant-explained

Types of Organ Donation Donation here in New Zealand

Donation after death

When you die, it is possible to donate the following organs:Kidneys,Heart,Liver,Lungs,Pancreas,Corneas,Tissue

One donor can assist up to 9 different patients suffering from organ failure.In New Zealand you can only help if you make known your wishes via your drivers license and directly to family and friends when you are alive or through a living will.

After your death, your family may be asked about your decision to donate organs and tissue. By sharing your wishes with them in advance you will assist your family understand what your wishes are and to communicate these more effectively.

Almost 90% of families agree to organ donation if they knew their loved one’s wishes. Less than 50% agree if they never had the conversation. That person could have ticked their drivers license, yet their organs may not be donated because their family didn’t know.

It’s a huge burden for families to decide, especially at such a difficult time. But when a family says no, someone waiting for a transplant may miss out. Whatever your choice, discuss it with your family. Making your wishes clear reduces the stress for them. Death can be uncomfortable to talk about, but it will become easier.

Living donation

Living donation is the alternative to waiting for an organ from a deceased donor. Those signed up will be assessed to see whether it’s safe for them to donate, and whether their organ is a match for the patient. Living donors could be strangers, family or friends. Some organs you can donate are:

-Kidneys. A healthy person can lead a normal life with one kidney. Around a third of kidney transplants are from living donors.

-Liver. You can give part of your liver to someone with liver failure who needs a transplant. Liver transplant operations are performed on patients with end stage liver disease, primary liver cancer, and children with metabolic diseases.

-Tissue. Living donors can donate bone (e.g. if undergoing hip replacement), bone marrow and amniotic membrane (placenta).


Blood Donation

Blood contains life-saving components that can help treat many illnesses and injuries. Suitable blood donors can donate up to four times a year.

The potential of each gift of blood is also wide-reaching; the New Zealand Blood service website states that a single blood donation contributes to the making of over 12 products all serving a vital function to help others in need. These include:

·  Fresh Frozen Plasma - Used to treat patients following trauma or transplantation.

·  Platelets- Used to support patients undergoing treatment for some blood diseases and cancer, and to control bleeding following cardiac surgery and trauma.

·  Red Cell Component- Used for treatment of people with: chronic anaemia resulting from disorders such as kidney failure or cancers; and acute blood loss because of trauma or surgery.


Organ Donation Awareness

To some people Organ donation may be a frightening or unsettling concept that can be difficult to consider or talk about. The idea of your body not being whole after you die may also be taboo for some. However, organ donation is an important topic that we at IDFNZ KIDS Foundation take seriously and would like to encourage more awareness and discussion around this topic.

Organ donations are an emotional experience for everyone involved. Donors, living or deceased, offer an amazing gift. Without organ donation, along with plasma, blood and bone marrow donation’s, many of our patient members might not be here today.

The fact is, donating saves lives.

Organ and blood/plasma donors are hero’s – their caring and selfless actions really do save lives, as IDFNZ KIDS Foundation members can testify first hand. Without donors, (both deceased and living) there would have been simply no hope for some of our patient member families. Individual IDFNZ patient members may have undergone liver, kidney, thymus, bowel, or Bone marrow transplants. Others have received blood transfusions, plasma infusions and often life-long immunotherapy treatment.

 Organ Donation

Being an organ donor is a generous decision. Understandably, people want to have all the facts before making such an important choice. Donating organs and/or tissue should be something you choose to do and feel comfortable with.

 The process to agree to become an organ donor is very simple;In New Zealand there are four easy steps to registering to become an organ donor:

1.  Read the information available at www.donor.co.nz about organ donation and the most frequently asked questions to help you decide if you would like to become a donor.

2.  Speak with your family or your emergency contacts about your wishes following your death so that they are aware you want to be a donor. Also let them know what tissues and organs you are willing to donate.

3.  In New Zealand your heart or heart valves, lungs, liver, kidney, pancreas, eyes and skin can be donated. These are subject to your age and medical history at the time of your death and what organs and tissues your family consent to be removed.

4.  Tick “DONOR” in question 4C on your driver licence application or renewal form. DONOR will then be printed on your licence. However, this is not an official organ donation register; it is essential you also let your family know what you want to happen following your death.

Blood, bone marrow and plasma donation.

Again, this is an easy process. visit www.nzblood.co.nz ; go to the “donating” page and complete the ‘Am I eligible?’ quiz to find out what steps and checks you need to take to become a blood, plasma or bone marrow donor.

It’s as easy as that.

Blood donors are always in demand in New Zealand and are highly valued; donor centres are located around the country, many with flexible times to visit. Find a donor centre near to you and even make an appointment online, by visiting https://www.nzblood.co.nz/give-blood/where-to-donate/ .

You too can save lives by becoming a blood donor.

Products Manufactured from Plasma

·  Albumex® 4- Used for patients suffering burns or shock due to blood loss.

·  Albumex® 20 - Used in the treatment of liver failure or renal failure associated with severe protein deficiency.

·  Rh(D) Immunoglobulin-VF (Anti D) -Used to prevent haemolytic disease of the newborn (HDN) caused by an incompatibility between the blood types of a mother and her baby. Complications of HDN can vary from mild jaundice to serious disability or death.

·  Cryoprecipitate – Contains blood clotting factors and is used for treatment of trauma patients and during cardiac/transplant surgery.

·  Biostate® (Factor VIII) -Used for management of haemophilia A, an inherited bleeding disorder requiring life-long treatment.

·  Prothrombinex®-VF (Factors II, IX & X) -Used primarily to reverse the anti-coagulant effect of warfarin in patients who are bleeding.

·  Hyperimmune Globulins -Provides the recipient with temporary protection against a specific infection e.g. chickenpox, tetanus or hepatitis B.

·  Intragam® P - An intravenously administered immunoglobulin product used for treatment of people with immune deficiencies or in treatment of a range of diseases where the patient immune system is compromised.

·  Normal Immunoglobulin-Used in prevention of hepatitis A in people travelling overseas to high risk areas.

Save a Kiwi

 Donating your organs, tissues, blood, plasma and bone marrow are amazing gift’s that will help others to lead a full and healthy life. We encourage anyone reading this article to consider how they can play a part helping others by becoming a donor hero.


About Blood, Bone Marrow and Organ Donation


UNDERSTANDING OUR BLOOD

What is blood?

An essential for life- Human Blood has two main components:

1. Plasma: which is mostly water; dissolved in the plasma are nutrients, hormones and waste products.

2. Cells and parts of cells: that are suspended in the plasma.

These include:

White Blood cells- part of the immune system.

Red Blood cells- used to carry oxygen and carbon dioxide to and from cells of the body.

Platelets- which help form clots.

Plasma

-Clear, yellowish fluid

-90% water/10% dissolved substances (eg proteins and electrolytes).

-The protein and electrolytes in plasma are essential for life and are pumped around the body by the heart to diffuse into tissues and cells where they are needed.

Red Blood Cells (Erythrocytes)

-Comprise 90% of our blood cells giving blood its red colour.

-Made in the bone marrow, each Red Blood Cell has a life span of about 4 months.

-Red Blood Cells carry oxygen around the body- this is their primary function- every cell in our body needs oxygen at all times.

- Each Red Blood Cell is shaped like a donut, concave on both sides, so it has lots of surface area to hold and release oxygen.

White  Blood Cells

-Help our bodies fight infection from foreign invaders. they are like soldiers floating around in the blood waiting to act invaders such as viruses and bacteria.

-In a normal adult body, there are 4,000 to 10,000 White Blood Cells per microliter of blood.

-White Blood Cells are actually a collection of different cells that work together as an army to destroy invading germs (bacteria and viruses).

Platelets

Tiny oval-shaped cells made in the bone marrow. They help in the clotting process.

-When a blood vessel breaks, platelets gather in the area and help seal off the leak.

-Platelets survive only about 9 days in the bloodstream and are constantly being replaced by new cells

-Platelets and clotting factors work together to form solid lumps to seal leaks, wounds, cuts and scratches and to prevent bleeding inside and on the surface of our bodies.

To find out more;

http://science.howstuffworks.com/environmental/life/human-biology/immune-system5.htm

www.nzblood.co.nz

http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/W/Welcome.html

http://www.nobelprize.org/educational/medicine/immunity

http://www.bbc.co.uk/schools/gcsebitesize/science/ocr_gateway/ourselves/2_keeping_healthy3.shtml


BONE MARROW

Your specialist medical team will discuss with you when a Bone Marrow Transplant is being considered as a treatment option for your child, explaining clinical details the procedure and what to expect . They will ask about medical history and do a physical exam.  A range of additional patient information has been developed to answer these types of questions.

A bone marrow transplant is a procedure to replace damaged or destroyed bone marrow with healthy bone marrow stem cells.

Bone marrow is the soft, fatty tissue inside your bones. The bone marrow produces blood cells. Stem cells are immature cells in the bone marrow that give rise to all of your different blood cells.

A bone marrow transplant replaces bone marrow that is either not working properly or has been destroyed (ablated) by chemotherapy or radiation. Doctors believe that for many cancers, the donor's white blood cells may attack any remaining cancer cells, similar to when white cells attack bacteria or viruses when fighting an infection.

Your doctor may recommend a bone marrow transplant if you have:

  • Certain cancers, such as leukemia, lymphoma, myelodysplasia, and multiple myeloma
  • A disease that affects the production of bone marrow cells, such as aplastic anemia, congenital neutropenia, severe immunodeficiency syndromes, sickle cell anemia, and thalassemia
  • Had chemotherapy that destroyed your bone marrow

Your health care provider will ask about your medical history and do a physical exam. You will have many tests before treatment begins.

Before transplant, you will have one or two tubes, called catheters, inserted into a blood vessel in your neck or arms. This tube allows you to receive treatments, fluids, and sometimes nutrition. It is also used to draw blood.

Your provider will likely discuss the emotional stress of having a bone marrow transplant. You may want to meet with a counselor. It is important to talk to your family and children to help them understand what to expect.

You will need to make plans to help you prepare for the procedure and handle tasks after your transplant:

Hospital Bone Marrow Transplant involves an extended hospital admission at Starship National Children's Hospital . If you are from outside of Auckland you can learn about what to expect on admission to Starship here, as well as local facilities nearby. The Foundation can assist with weekly visits and assistance towards hospital parking  and caregiver meal expenses.

During the Bone Marrow Transplant period families often have friends and close relatives visit from outside of Auckland. Accommodation options close to the hospital include . The Foundation has a furnished home in Red Beach which may also be booked for this purpose, contact support staff for details. Make contact with our support staff to let us know when you expect to be admitted for scheduled treatment or clinics. It is our aim to offer one -on- one practical support as needed by each family.

Once the patient is recovering from surgery and discharged from the ward , there is usually a period where the family are asked to stay close by the hospital if from outside of Auckland. Our Red Beach and Mangawhai Heads Respite homes are often used by families at this point , allowing some freedom as the patient  recuperates and family unit can enjoy private time together away from the hospital. Talk to support staff if you are interested in accessing these facilities.

There is a collection of  sample patient stories on our website; KIDS Foundation has a network of patient members that have been through Bone Marrow Transplants, if you feel it might be helpful to connect with another family please get in touch with us and we will help arrange this for you with a suitable family.

We also host a number of patient events throughout the year that in time you may want to participate in to widen your contacts.

Any other questions or problems please do not hesitate to contact our support staff .


ORGAN DONATION

More New Zealanders are choosing organ donation than ever before, with over $1,850,000 drivers ticking the 'yes' box on their driver licence this year.

However, what many donors may not know is that even though donor information is recorded on your driver licence , at the time of death, the decision to donate your organs lies with your family.

New Zealand's Organ Donation programme thus far is showing good results, with 53 deceased organ donors recorded in 2015, up 15% from the 46 donors in 2014 and a 47% increase from the 36 donors in 2013. In 2015 there were also 78 live donors who donated a kidney or a part of the liver to 78 recipients.

These 53 deceased organ donors donated organs (heart, lungs, liver, kidney or pancreas) to 158 transplant recipients  in 2015, a 14% increase from the 138 recipients in 2014. As a result of both deceased donors and live donors, the number of New Zealand organ transplant recipients rose  to 232 in 2015 (the largest number ever) from 214 in 2014- an 8% increase.

Organ Donation NZ says the most important step when you have made a decision about becoming an organ donor is to tell your family your wishes and let them know which organ and tissues you are willing to donate. They also recommend finding out what other members of your family want.

If you are wondering why to donate, you don't have to look far within Kids Foundation to find families whose lives have been changed forever through organ donation. There is no greater gift than a second chance at life.

When and how does organ donation happen?

While more than 1 million people have indicated their wish to donate organs on their drivers licence, only a small number of people however will die in circumstances that makes it possible for organs to be donated for transplantation. People who die at the scene of an accident or die from heart attacks for example, cannot donate organs for transplantation. This is because once the heart stops and there is a period  of time when the organs have no blood and oxygen supply, the organs will not be suitable for donation.

Organ donation most commonly takes place when a person has suffered a severe and irreversible injury tot eh brain, from bleeding  in the brain or from trauma. He/she will be on a ventilator, in a hospital ICU and brain death will have been determined. More recently in NZ organ donation is possible when a person is again on a ventilator in an intensive care unit with a non survivable head injury but is not brain dead.

When and how does tissue donation happen?

Tissue donation can include heart valves, eyes (cornea) , and skin donation. Corneal transplantation will restore sight, heart valve transplantation will give improved health and skin transplantations can prevent death for patients with severe burn. Many more people can donate tissues for transplantation as donation is not restricted to those who die in an intensive care unit from an irreversible brain injury.

www.donor.co.nz ;  Organ Donation New Zealand

0800 4 DONOR



About Bone Marrow Transplants

What is bone marrow?

Bone marrow is the bodies blood cell "factory". It is the tissue inside the bone cavity which produces and maintains a supply of blood stem cells.

What are stem cells?

Stem cells are immature blood cells which mature into:

-Red blood cells (which transport oxygen)

-White blood cells (which fight infection)

-Platelets (which clot blood to stop bleeding)

Stem cells normally rest inside the bone marrow until they are mature enough to circulate in the blood stream. The mature cells are then released into the blood stream to perform their various functions. Only a small number of immature stem cells circulate in the blood stream.

Bone marrow transplants (BMT), or more commonly known as stem cell transplants, have been developed since 1956 to treat immune deficient patients suffering from Severe Combined Immunodeficiency (SCID) and Wiskott-Aldrich Syndrome (WAS) diseases. The process is continually being refined and improved. The Bone Marrow transplant is a challenging process involving long hospital admissions, where treatment has an impact on both patient and family. 

The transplant planning process is an important preparation period for the patient and family to have close contact with their immunology and transplant team.

Choice of Stem cell source:

-Bone marrow is first choice

-Cord blood is also possible in some cases

A good donor match is critical (from a compatible family member or Bonemarrow register)

Bone marrow/stem cells are harvested from the Donor.

A bone marrow or blood stem transplant is a two step process of:

-Elimination by chemotherapy and/or radiation of deficient bone marrow or malignant cells, followed by

-Replacement of the deficient marrow of cells by an infusion of healthy blood stem cells from the Donor.

Your specialist medical team will discuss with you when a Bone Marrow Transplant is being considered as a treatment option for your child, explaining clinical details the procedure and what to expect A range of additional patient information has been developed to answer these types of questions.

Your health care provider will ask about your medical history and do a physical exam. You will have many tests before treatment begins.

Before transplant, you will have one or two tubes, called catheters, inserted into a blood vessel in your neck or arms. This tube allows you to receive treatments, fluids, and sometimes nutrition. It is also used to draw blood.

Your provider will likely discuss the emotional stress of having a bone marrow transplant. You may want to meet with a counselor. It is important to talk to your family and children to help them understand what to expect.

You will need to make plans to help you prepare for the procedure and handle tasks after your transplant:

Hospital Bone Marrow Transplant involves an extended hospital admission at Starship National Children's Hospital . If you are from outside of Auckland you can learn about what to expect on admission to Starship here, as well as local facilities nearby. The Foundation can assist with weekly visits and assistance towards hospital parking  and caregiver meal expenses.

During the Bone Marrow Transplant period families often have friends and close relatives visit from outside of Auckland. Accommodation options close to the hospital include . The Foundation has a furnished home in Red Beach which may also be booked for this purpose, contact support staff for details. Make contact with our support staff to let us know when you expect to be admitted for scheduled treatment or clinics. It is our aim to offer one -on- one practical support as needed by each family.

Once the patient is recovering from surgery and discharged from the ward , there is usually a period where the family are asked to stay close by the hospital if from outside of Auckland. Our Red Beach and Mangawhai Heads Respite homes are often used by families at this point , allowing some freedom as the patient  recuperates and family unit can enjoy private time together away from the hospital. Talk to support staff if you are interested in accessing these facilities.

There is a collection of  sample patient stories on our website; KIDS Foundation has a network of patient members that have been through Bone Marrow Transplants, if you feel it might be helpful to connect with another family please get in touch with us and we will help arrange this for you with a suitable family.

We also host a number of patient events throughout the year that in time you may want to participate in to widen your contacts.

Any other questions or problems please do not hesitate to contact our support staff .




About Liver Transplant

Your specialist medical team will discuss with you when liver transplant is being considered as a treatment option for your child, explaining clinical details the procedure and what to expect A range of  additional patient information has been developed to answer questions . 

There is also a collection of  sample patient stories on our website which may help to look through; KIDS Foundation has a network of patient members that have been through Liver transplant, if you feel it might be helpful to connect with another family please get in touch with us and we will help arrange this for you with a suitable family.(We also host a number of patient events at various times through the year that in time you may want to participate in these to widen your contact).

Hospital Liver transplant involves an extended hospital admission at Starship National  Children's Hospital . If you are from outside of Auckland you can learn about what to expect on admission to Starship here, as well as local facilities nearby. The Foundation can assist with weekly visits and assistance towards hospital parking  and caregiver meal expenses. Make contact with our support staff to let us know when you expect to be admitted for scheduled  treatment or clinics.It is our aim to offer one -on- one practical support as needed by each family.

During the Liver transplant  recovery period families often have friends and close relatives visit from outside of Auckland . Accommodation options close to the hospital include . The Foundation has a furnished home in Red Beach which may also be booked  for this purpose, contact support staff for details.

Once the patient is recovering from surgery and discharged from the ward , there is usually a period where the family are asked to stay close by the hospital if from outside of Auckland. Our Red Beach and Mangawhai Heads Respite homes are often used by families at this point , allowing some freedom as the patient  recuperates and family unit can enjoy private time together away from the hospital. Talk to support staff if you are interested in accessing these facilities.

Any other questions or problems please do not hesitate to contact our support staff .


About Pediatric Liver Disease

Click here to learn the 'Beware Yellow' warning signs 

Liver disease in infants: a guide to early warning signs

Introduction

Liver disease is rare in newborn babies. Nevertheless, around 1 baby is born in New Zealand every month with a serious liver disease. Often the signs and symptoms are subtle or non-specific and it can take a while for parents and health care professionals in the community to recognize that the baby has liver disease. This is a guide to the early warning signs of liver disease in babies.

There are many different causes of liver disease in babies. Some of these are extremely rare while others, such as biliary atresia, are commoner. Each of the different causes of liver disease may have specific signs and symptoms related to that particular disease and it is not possible to mention all of them in one guide. However, there are some general features which are common in most babies with liver disease and it is these that I will focus on.

It is also important to remember that parents know their babies best. If you have any concerns about your baby’s health, then you should contact your midwife or GP. Sometimes, a straightforward blood test, usually done as a heel prick is enough to tell doctors whether or not to worry about liver disease

 Jaundice

Jaundice is a yellow colour to the eyes, skin and even the hair. It can range from subtle to very obvious. Sometimes it can be difficult to see in babies’ skin but is usually easier to see in the whites of the eyes.

Jaundice on the first day of the life is rare. Babies with jaundice on day one should be seen by a doctor. Common causes include incompatibility between the blood of the baby and his or her mother, and also infections. As babies are usually seen by a doctor prior to discharge from hospital, the jaundice is usually noticed. However, for babies born at home or discharged early, it is important that mothers let their midwife or doctor know if their baby becomes jaundiced on this first day.

It is very common for babies to have jaundice in the first 2 weeks of life. We call this physiological jaundice. Sometimes the baby needs to undergo light therapy known as phototherapy. Usually physiological jaundice is short-lived and has no long-term effects on a baby’s health. It is important to know that physiological jaundice is not due to liver disease.

Occasionally, jaundice will last longer than 2 weeks and this is commoner if babies who are breast fed. No-one really knows why breast-fed babies become jaundiced but, again, this is harmless and has no long-term effects. Breast-milk jaundice goes away once breast feeding is stopped. However, there is no need to stop breast feeding as long as the baby has been checked by a doctor and no serious cause of liver disease found.

Jaundice after the first 2 weeks of life should always be checked out. However, there is no need to wait 2 weeks if you are worried about your baby before this time. In particular, if your baby has any of the problems listed below, I would encourage you to take him or her to your doctor earlier than 2 weeks of age.

Jaundice is due to high levels of a waste substance called bilirubin. There are 2 types of bilirubin: unconjugated and conjugated. A simple blood test will tell whether your baby has high levels of unconjugated or conjugated bilirubin. Unfortunately, the laboratory will often only look at the total bilirubin level which then does not help tell between the 2 types of bilirubin. The test which does distinguish between them is a split bilirubin test. It is the conjugated bilirubin which is high in liver disease and any baby with a high conjugated bilirubin level should be referred urgently to a paediatrician (a doctor specialising in child health). Conjugated bilirubin levels are normal in babies with physiological or breast-milk jaundice and so it is easy to distinguish between which babies need referral to hospital and investigations for liver disease and which do not.

Pale stools (poo)

Normal baby stools (poo) range from yellow to green to brown. Any other colour is not normal. Baby poo is yellow, green or brown because bile, the waste product of the liver, comes into the intestine and mixes with the digested milk. Bile is a dark green colour so when it mixes with the digested milk, the result is a liquid which is yellow, green or brown. As this liquid moves along the intestine, water is reabsorbed and the poo becomes more solid.

In liver disease, the stool may be especially pale, for example white, cream or a very pale yellow. This happens for 2 reasons. Firstly, there may be a blockage meaning that bile cannot get out of the liver and so the poo resembles just digested milk – a creamy colour. In addition, bile contains useful substances which help babies absorb the fats in their milk. If there is not enough bile being made, the fats may not be absorbed well leading to too much fat in the poo. Fat in poo gives it a pale, loose, greasy look and it may smell worse than a normal baby poo.

When doctors and nurses see pale poo, we worry about the disease biliary atresia. In this disease, there are no bile ducts (tubes) carrying the bile from the liver to the intestine. This means bile is trapped in the liver leading to liver damage. The reason we worry about this disease is that there is an operation (a Kasai procedure) which can help make the bile drain into the intestine. However, this operation needs to be performed as early in life as possible if it is to be successful.

Not all babies with pale poo have biliary atresia but because this is the commonest liver disease in babies, we always need to test for it when we see a baby with pale poo. Other liver diseases where the poo may be pale include alpha-1-antitrypsin deficiency, Alagille syndrome and Progressive Familial Intrahepatic Cholestasis.

Sometimes parents find it difficult to describe the colour of their baby’s poo and of course, it can be different at each nappy change! Take a dirty nappy along with you when you see the midwife or doctor to show them. They will be able to tell whether there is enough colour in the poo or not.

Dark urine

Usually, the urine (wee/pee) of a newborn baby is colourless. It should look like water. When it soaks into the lining of the nappy, you should not be able to see any colour. However, when a baby becomes jaundiced with a high level of conjugated bilirubin, the bilirubin can come out in the urine. The urine then looks yellow or brown. This can easily be seen in the nappy.

It is not normal for a baby’s urine to be yellow or brown so, again, take your baby along to see your doctor and take a wet nappy along with you.

Itching

When babies are jaundiced, the bilirubin (yellow colour) in their skin makes them itch. This is commoner in older babies who have more advanced liver disease. However, in both Alagille syndrome and Progressive Familial Intrahepatic Cholestasis (PFIC), the itch may be especially severe and can occur very early in life. Sometimes these babies itch even when their skin is only mildly jaundiced or not jaundiced at all. Severe itching without much jaundice always makes us think of these 2 diseases.

Alagille syndrome is a disease which can affect several parts of the body. For example, sometimes the baby also has a heart murmur and they may have a harmless extra membrane at the back of their eye and an unusual but harmless shape to the bones in their spine. None of these things can be seen from the outside and need special tests at the hospital to look for them. In addition, some children with Alagille syndrome have a characteristic facial appearance. This is often difficult for parents to notice as usually the baby also looks like their parents of course. It is also difficult to doctors and nurses in the community to recognise as they may never have seen it before because Alagille syndrome is rare. However, doctors at the hospital may recognise these features more easily and will sometimes take photographs of your baby for future reference.

PFIC is a complicated group of diseases. There are several types and, as they are all rare, I will not go into them in any detail. However, PFIC type 1 can involve other parts of the body. Frequently these babies have diarrhoea which can become quite severe. Therefore any baby with jaundice, diarrhoea and itching should be seen by a specialist paediatrician.

Poor weight gain

Babies with liver disease often have difficulty putting on weight. This can occur for many reasons. In some liver diseases, especially Alagille syndrome, the baby may already be small at birth. In addition, babies with liver disease are often losing fat into their poo (as described above) and their metabolic rate is higher. These two facts mean that they need more calories than other babies. So, you may notice that your baby is feeding well and yet not gaining enough weight. In addition to all of this, some babies with liver disease lose their appetite. This is commoner as they become older. If their liver and spleen become large, then their stomach may be a little compressed so that they feel full easily and take only a small volume of feed. Also, children with liver disease may vomit more easily than other children. If you are worried about your baby’s growth in any way then this is always a reason to consult with your GP, midwife or Plunket nurse

Bleeding

The liver performs all sorts of important functions but one of these is making substances which help the blood clot. These substances need vitamin K to work properly. Vitamin K is absorbed from milk but there is less vitamin K in breast milk than cows’ milk. If your baby has bleeding, this can be a sign that they have a problem with their liver. It is unusual for babies to have bleeding so if you notice blood in the nappy or from the nose or mouth, you should consult a doctor urgently. Equally, bruising in babies is also uncommon and should be taken seriously. It is because of this risk of bleeding that babies with liver disease usually receive vitamin K supplements

Summary

  • Jaundice is common in babies and usually harmless but a small number of jaundiced babies have serious liver disease
  • Jaundice on day 1 of life and after 2 weeks of age requires investigation
  • A simple blood test called split bilirubin can tell whether your baby needs further tests for liver disease
  • Baby poo is usually yellow, green or brown – pale poo which is white or cream needs investigation
  • Baby urine is usually colourless – if you can see urine in a baby’s nappy because it is yellow or brown then your baby needs investigations
  • Itching, poor weight gain and bleeding may also be signs of liver disease
  • Liver disease is rare in babies but early diagnosis is essential to prevent complications
  • In babies with jaundice, pale poo and dark urine, biliary atresia needs to be considered and an urgent referral to a paediatrician is needed
  • Do not hesitate to consult your doctor if you are worried about your baby’s health

BEWARE YELLOW

Paediatric Liver Disease is clearly an important group of diseases which affect precious New Zealand babies each year. These children are an important part of the IDFNZ KIDS Foundation youth patient membership.  Left undiagnosed liver disease is fatal. The BEWARE YELLOW message has been developed to communicate the importance of early warning signs to both parents and medical professionals. Help us spread the word , feel free to download these free posters and fliers .




About Primary Immune Deficiency

Click here to learn the '7 Warning Signs' of Primary Immune Deficiencies 

IDFNZ has developed a range of informational booklets, pamphlets, posters and education kits to offer NZ medical professionals, patients and families basic information about these rare disorders of the immune system.

One example is the '7 warning signs of Primary Immune Deficiency (PID)' poster, endorsed by the IDFNZ medical panel, and developed as a simple cartoon illustration which features heavily in our ongoing PID Awareness campaign. Every GP waiting room should have one on display! 

Ascia PID E-Training for GP's

IDFNZ is thrilled to announce that Ascia (Australian Society of Clinical Immunology & Allergy)have produced an excellent E-training resource for GP's warning to these 7 warning signs. We strongy recommend that patients diagnosed with PID direct their GP to this free online resource for up to date information from specialists. http://www.allergy.org.au/health-professionals/hpinformation/immunedisorder

We have also produced a series of pamphlets to satisfy inquiring young minds as to how the human body is designed to function. These resources are recommended for use by schools studying the immune system as part of World Day of Immunology and the IDFNZ ALL4GOOD challenge.

About SCID & Newborn Screening

Severe Combined Immune Deficiency (SCID) is considered to be the most serious group of primary immune deficiency disorders (PID), recognised as a paediatric emergency and potentially fatal .

Research indicates SCID may be caused by absent or poorly functioning T-lymphocytes, an absent or poorly functioning thymus gland, or defective bone marrow stem cells from which the mature T-or B-lymphocytes develop. There is a number of specific forms of SCID. For some types of SCID, specific genetic defects have been identified causing the abnormalities in the developing immune system, other suspected gene mutations are yet to be discovered.

The combined lack of T-lymphocyte and B-lymphocyte function in SCID leaves the infant completely vulnerable to life threatening infections. Infants with SCID typically fail to thrive and may experience an excessive number of infections and complications. They may experience one or more serious, even life-threatening, infections such as pneumonia, meningitis or bloodstream infections within the first few months of life. Normal childhood infections and viruses can be fatal to a baby with SCID.

Because a SCID baby is so vulnerable to infection, early diagnosis is critical. Infections can quickly lead to severe life threatening situations where the SCID baby is left fighting for its survival, weakened and exposed to permanent organ damage.

  If a baby with SCID receives a bone marrow transplant in the first 3.5 months of life, the survival rate can be as high as 94 percent. However, the survival rate drops to less than 70 percent for infants who are transplanted after that age. The main causes for the drop in survival rate are serious infections babies with SCID developed prior to transplantation.(IDF SCID initiative)

Early diagnosis of SCID is essential to preserve life. New screening tests for newborns offer growing hope that all babies affected by SCID can be diagnosed in the first week of life.Once diagnosed there are then effective treatment options available, such as Bone Marrow (Stem cell) transplant which can cure this rare PID .The first bone marrow transplant treating a SCID patient was pioneered in 1968 in the USA.Today, New Zealand infants diagnosed with SCID routinely undergo bone marrow transplant at Starship National Children’s Hospital.


Newborn Screening

Because early diagnosis and medical intervention (before infections occur) has been proven to lead to better outcomes – scientists and immunologists have collaborated to develop an effective newborn screening  test to identify SCID as part of the routine Guthrie screening tests performed on new born babies .

TREC screening has now been established or is undergoing trials in many states of the USA. This testing is also of benefit in diagnosing a range of other PID conditions in addition to SCID.

IDFNZ is passionate about establishing this testing into New Zealand. We are thrilled that the Newborn Metabolic Screening Unit is currently working with local immunology clinicians and scientists to evaluate the introduction of New Zealand SCID newborn testing.  This is a critical test which will save lives of precious New Zealand babies once introduced - we look forward to MOH introducing this into the National screening program .

Meet some of our SCID patient members and their families who support SCID newborn testing being introduced into New Zealand : 

 Add your voice  - help spread the word about SCID and the simple test that can save lives of vulnerable babies born with this silent , life threatening condition. 

Write to your member of parliament (mail us a copy)  and let them know you support SCID newborn testing being introduced urgently to save precious lives .



About Total Parental Nutrition (TPN)

All4Good

This provides schools and businesses with all the resources they need to get their All4Good fundraiser underway this year!

Board Nominations

FORMS

Fireworks

Fundraising

Informative links

Library

Often when a family member is diagnosed with a strange or rare illness, you want to seek all the knowledge you can find. We currently have the following books available for families to borrow from the Foundation.

The following books are currently available for borrowing:

  • Austin, Frank, Atkinson, Cantor, 2001; Samter's Immunologic Diseases Vol. 1&2; 6th Ed. Lippincott, Williams & Wilkins, USA
  • Goldsby R., Kindt T., Osbourne B., Kuby J. 2003; Immunology 5th Ed. W.H. Freeman and Company, USA
  • Parham Peter 2000; The Immune System, Garland Publishing, USA
  • Roitt I. & Delves P. 2001; Essential Immunology 10th Ed. Blackwell Science, UK.
  • Roitt I. & Rabson A.; Really Essential Immunology 2000 Blackwell Science, UK.
  • Wong D. & Hockenberry M. 2003 Nursing Care Of Infants and Children 7th Ed.; Mosby, USA
  • Walker T; 2001; Infectious Diseases in Children: A clinical guide for Nurses; Ausmed Publications; Australia.
  • Patient and Family Handbook for the Primary Immune Deficiency Diseases; 1993; Immune Deficiency Foundation, USA.
Please email support@idfnz.org.nz to request a book.


Newsletters

Read our latest newsletters, including family stories, upcoming events and latest news and research results regarding primary immune deficiency and liver and bone marrow transplants.  

Useful Links

We have put together a list of useful links about primary immune deficiency and bone and liver transplant, to help those looking for additional information on these topics.

You are also welcome to contact us if you are looking for more specific information.

Health related sites:

ipopi.org - IPOPI is the International Patient Organisation for Primary Immunodeficiencies, is the Association of national patient organisations dedicated to improving awareness, access to early diagnosis and optimal treatments for primary immunodeficiency (PID) patients worldwide.

www.starship.org.nz - many of our children spend time at Starship Children's Hospital.

www.primaryimmune.org - The Immune Deficiency Foundation is our American equivalent, and share resources and relevant information about immune deficiencies.

www.everybody.co.nz - we recommend the Everybody Human Atlas -New Zealand health information you can trust; a range of medical animation content developed by Blausen Medical Communications (BMC) int he US. BMC has the worlds largest medical imagery library with over 4,000 animations and 7,000 stills. These images can be really useful for explaining to patients what is going on within the body.

Our sponsors:

www.smithandsmith.co.nz - Smith&Smith

www.freemasons.co.nz - Freemasons

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