How to be an Advocate for Your Child

Hold onto Hope

Generalized Arterial Calcification of Infancy (GACI) and Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) are extremely rare conditions that can be caused by ENPP1 or ABCC6 Deficiency.  Accurate, up-to-date information can be hard to find for both families and medical professionals.  It is therefore quite possible that your doctor/s have never treated or even heard of the condition.  The key theme, in the limited medical literature that exists, is that GACI is fatal in nearly all cases.  As a result many families, following a diagnosis of GACI, are advised to prepare for the loss of their child and offered palliative care services.  While GACI is indeed a devastating diagnosis and has claimed too many angels, there is reason to have hope.  Recent research shows that the survival rate is around 50%.  Unfortunately, there are no obvious predictive indicators to suggest which children will survive. This alone is reason to not let any doctor give up on your child – if some babies survive, why can’t your baby?  This is the reason to fight for your baby and give them every opportunity.  Research shows that the first six months of life is a critical period for babies diagnosed with GACI.  This means that early (sometimes aggressive) treatment is necessary.  This may be in the form of medical management of calcifications (e.g. bisphosphonates), cardiac management (beta blockers, ace inhibitors, inotropic support, etc) or life support systems (mechanical ventilation, ECMO (extra corporeal membranous oxygenation).

Learn as Much as You Can and Utilize the Expertise of Others

Knowledge is power.  Do your own research and learn about GACI/ARHR2.  Learn how it affects your child, what medications have been used successfully in the past, their side effects, whether the medication is available in your country and if not, where it can be sourced.  Doctors have many patients and can’t spend hours reading every GACI/ARHR2 journal article available.  This is where you can become the expert in your child’s condition.  You can help to educate the health professionals involved in your child’s care. Others have walked this path before you so utilize their experiences.  This may be through reading published case studies, information on this website or connecting with other families in the GACI/ARHR2 Support Group for Families on Facebook.  There are doctors around the world that have successfully treated children with GACI/ARHR2 and a few that are particularly passionate about GACI/ARHR2 research.  Getting in touch with these doctors yourself, as well as providing their details to your treating doctors can be very helpful.  Be prepared to be the intermediary between these doctors if needed.  Please contact info@gaciglobal.org for details of doctors who have treated patients with GACI/ARHR2 worldwide.

Be Assertive (and even stubborn, if it’s required)

You may be surprised if you are met with resistance from your treating doctors – resistance to talking to international doctors, resistance to particular medications, resistance to your requests to fight harder for your child, resistance to implement all resuscitative measures should your child deteriorate.  Unfortunately, many families affected by GACI/ARHR2 have experienced this.  As mentioned above, at first glance, the literature paints a very grim outlook for infants with GACI.  Doctors therefore may believe that making your child comfortable is the best management.  You may have to convince them that there is a reason to treat your child. Similarly, ARHR2 doesn’t present on x-ray the same way as normal rickets.  If you feel your child is experiencing bone pain, you notice deformities of the bones or your child has dental issues, you may need to convince them to investigate ARHR2 a possible cause.  It is important to remember that it is your child and that you have a say in how they are managed.  Speak up and have your voice heard.  On occasion, this may mean digging your heels in and being firm in your requests.  This may be to request treatment, ask for a second opinion or to escalate management.

It is important to also note here, that there may come a time, if all options are truly exhausted, that doctors may recommend comfort measures (for example, significant brain damage following a cardiac arrest).  It may be appropriate at that time. If that occurs, you will know that you have done everything you possibly could to save your child.

Be Accurate, Clear and Concise

To feel truly heard by your doctors, you need to build respect and create an open dialogue between you and your child’s doctors.  Communicate on a regular basis.  If they can see that you have educated yourself and are accurate in the information you provide, they are more inclined to listen.  You may feel rushed during meetings with them and may not feel that you have had a chance to say everything that you want to (or be able to think of your questions fast enough).  Try to prepare prior to meeting and write down the key topics or messages that you wish to discuss.  If you haven’t had a chance to do this or you do not have warning prior to the doctors arrival, do not be afraid to request that they come back to talk to you again, once you’ve had a chance to process things (often nursing staff can assist to facilitate an additional meeting).  Be concise in how you speak to the doctors, where possible, to ensure you get your main point across. It is also important to try to remain calm and level headed.  Becoming too emotional or aggressive, can be detrimental to the discussion.  If you feel like you cannot control yourself at that point in time, it may be best to ask for a break and to return when feel more calm.

Write Things Down

Take the time to write down your questions or concerns prior to doctor appointments or meetings.  Appointments can be stressful (and often you are trying to comfort an infant/child at the same time) and questions are easily forgotten.  It is a good idea to write things down as you think of them or as they occur rather than trying to think of everything the hour before your appointment.  This becomes particularly important when the interval between appointments extends.  This includes noting any new symptoms or concerning behaviors (e.g. irritability with during clothing or diaper changes).

Immediately after the appointment/meeting, write down all the important points and store them in a folder/notebook to help track your child’s progress (and refer back to, as required).  Make a note of what was discussed and agreed at the appointment.  If referral letters, blood test results or other action was agreed, put a note in your calendar/diary to follow this up if they don’t arrive in a timely manner.  It may be necessary to phone multiple times to get test results or appointments, but it’s important to persist.

You will asked often what medications your child is on, any side effects, when dosages changed or when a medication started/stopped.  If you have this information easily accessible, it will makes things a lot easier (with less room for error).

Ask Lots of Questions

It is important that you understand what is happening with your child.  If you don’t understand, ask them to explain it to you again (if you still don’t understand, ask them to try explaining it in a different way or ask a different person).  Ask about the condition, the treatment, the risks and the benefits.  Question why something is being done or why something else isn’t being tried.  If you don’t agree with something, ask why they think it is best.  Don’t just ask your doctor, ask your nurse, ask your pharmacist, ask other parents – collate as much information and different opinions as you can.

Build a Support Network

It is difficult to advocate for your child if you, yourself feel like you are falling apart.  While it is completely normal and understandable to at times feels that your world is crumbling, it is important to consider your own (and your partner’s) emotional and psychological well-being.  It is a long and tiring journey.  There are bound to be highs and lows, improvements and deterioration, great milestones and large/small setbacks, repeated hospital admissions and many appointments.  There are likely to be health professionals that show great compassion, expertise, empathy and knowledge of your child and their condition, but there will be some that do not.  Build your village around you with friends, family and health professionals that have a positive impact and who support you and your child.  Seek professional help, if required, if you are not coping with the stresses and pressures of your situation.

Join the GACI/ARHR2 Support Group for Families on Facebook to talk to other families affected by the same condition.  You can get up to date information on GACI/ARHR2 and first-hand experience of the condition from a parent/caregiver perspective.  It will also help minimize stress and feelings of being alone.  Many group members are very knowledgeable about the condition and most are very open to being asked any questions (as personal as they may be).  The group may help you to understand medical terminology and will give you the tools you need to prepare yourself for medical appointments e.g. provide ideas for questions you might need to ask.  Most importantly, the groups can give you hope.

Working With Your Doctors

Like every profession, individuals bring different skills, expertise and personalities to their role.  A doctor/health professional may not be the right match to you, your child or the situation.  Being able to recognize this, develop strategies to manage it or, failing this, requesting an alternative doctor/health professional is important.  You need to be able to trust in those that are caring for your child and be able to maintain open, honest communication.

Seek Another Opinion

If you’re not happy with a diagnosis or treatment plan you should discuss this immediately with your doctor.  You don’t have to accept no for an answer to a question or treatment.  You can actively play a part in your child’s care/treatment plan and you have the right to seek a second opinion.  You may do this formally through the hospital that you are in or you may seek other opinions yourself.  Many interstate or international hospital/doctors are willing to provide advice or opinions.  If you are not having success with your doctors communicating with external doctors, then you can communicate with other doctors/organizations directly.  The National Institutes of Health (NIH – Bethesda, USA) have treated and consulted on many patients with GACI/ARHR2 from all over the world and are researching ENPP1/ABCC6 Deficiencies that cause this condition.  They can be a valuable resource to you and your doctors.  Contact us for further information.

Accessing Your Child’s Medical Records

If your child is being treated by a new doctor/hospital, they will usually require your child’s medical records.  You can often facilitate this yourself through a request to the hospital records department.  Normally they will accommodate you but may charge you a fee for photocopying.  This fee may be waived if your existing doctor supports your request.  You are entitled to your child’s records under the Freedom of Information Act.

Escalate Care

As a parent, you have the right to request an escalation of care.  This may be in the form of requesting a specialist opinion (if an inpatient or outpatient), if you feel your child is deteriorating without appropriate management.  If you don’t agree with the treatment plan or have an issue with one of the staff members involved with your child’s care, there are pathways you can follow within the hospital.  You can submit complaints/feedback forms, contact a patient liaison member of staff, ask for review by the ethical review board or write to the CEO of the hospital.  If internal strategies have failed to address your concerns, there are external avenues that you can pursue depending on the situation and severity.  You may speak to your local member of government or take legal action.

Know How to Contact Your Doctors

The time immediately following diagnosis can be a whirlwind.  There is usually a hospital admission with an overwhelming amount of information then all of a sudden you are at home with much less medical support.  Make sure you know who you should contact in various situations and the best way to do so.  For example, if you have concerns about medication – do you know how to contact your cardiologist/endocrinologist?  What do you do if there is a problem with feeding or medication administration – is there a dietician or pharmacist you can contact?  If your child has had a surgery – who do you contact if you have a problem with pain management or dressings?  In an emergency situation, does your local hospital have information about your child (if you child’s main treatment is at a different, major hospital) and is there any documentation you should take with you?

Trust Your Instincts

You may not have a medical degree but you know your child better than anyone else.  You are also likely to be the person that spends the most amount of time with your child.  This means you may notice things that others don’t.  If you have concerns, or if something doesn’t feel right, seek help.

Advocate in Everyday Life

You will also have to advocate for your child in schools and other social situations.  Don’t be afraid to ask for accommodation for any special requirements your child may have.  A person with ARHR2 who suffers from leg pain, may need to sit rather than stand in line/queue.  Requests to use the elevator rather than the stairs or take medication in school will be accommodated by most educational providers.  Ask to be accommodated in a hotel room/apartment near to the main facilities when on vacation.  This will help to reduce fatigue for those who have mobility difficulties.  Ask for a fridge in your hotel room to store medication.  You could ask your doctor to write you a letter, outlining what accommodations you need, if you would like a written document to support your requests.

There may be some government support, financial or practical, that you or your child may be able to claim depending on where you live.  Contact your local government offices/hospital social services/support groups to enquire about your entitlements.

Be Your Child’s Voice and Be Heard

Our children are incredibly resilient.  Give them every fighting chance by being their voice.  Make yourself heard by being a strong advocate, utilizing the strategies discussed above.  After all, they are worth it!

Please also see Strategies & Tips for Parents and Living with GACI / ARHR2 as a Child for more information.