With a condition as rare as GACI/ARHR2, you will quickly find that you need to be the ‘expert’. Most of the health professionals you come across will have never treated a child with GACI/ARHR2 and many will have never heard of it. The more knowledge that you can arm yourself with, the more empowered you will become. Try to learn what the condition is, how it affects your child, what medications they are on and the signs and symptoms to watch out for. There may be special ‘rules’ about some of the medications your child takes which nursing staff may not be familiar with (e.g. sit upright to take oral bisphosphate and fast prior). Being familiar with this sort of information will help your child to receive the best possible care.
Knowing what to expect may help you interpret your baby’s symptoms. For example, if you know that ARHR2 and periarticular calcification are risks associated with the condition, you may be more likely to seek help if you notice your baby is consistently irritable with joint movement or during clothing changes, or if you notice a change in the shape of their bones, etc.
It takes time to learn all of this though so don’t expect to be an expert the day after diagnosis!
Children with GACI/ARHR2 often have complex health needs and all the information can be a lot to take in. Don’t be afraid to ask lots of questions of your doctors and nurses. If they don’t know the answers, ask them to find out.
You may find it helpful to write down your questions (or points that you’d like to talk about) prior to an appointment or meeting with your doctors. It is not uncommon for your mind to go blank when you walk into that situation (and you may feel rushed by the doctor). If you have a written list that you can refer to and work through, then you can ensure that you get the answers that you need.
It may also be helpful to take notes during the meeting or write things down straight after the meeting, so you don’t forget the answers. It would be very useful to get a notebook with section dividers and then when you see a particular specialist – e.g. the cardiologist, write notes regarding that visit into the cardiology section. It will make it easier to find in the future. Also keep a note of when the next or last echo, EKG/ECG, ultrasound, CT, MRI, or blood test was in the relevant section. You’ll be amazed by how many times you’ll be asked for this and how useful it will be to be able to quickly find it. No one can be expected to remember all this information. Include in your notes what the treatment plan was, when the next appointment is, and if the medication was changed – write down the new dose and the date. You will be asked for this type of information for years to come. You’ll also be asked when the first tooth arrived and when your baby started to walk and talk. This notebook should be brought everywhere with you.
A lifetime of appointments makes for a lot of information! It is a good idea to keep copies of doctor’s letters, blood test results, discharge summaries, and other important information in one place. This may be in a filing cabinet, display folder, a top drawer – it doesn’t matter where, as long as you can access them when needed. Alternatively, you might like to keep electronic copies instead.
It is a good idea to keep a list of medications, doctors’ contact information, and anything else important in your handbag or diaper bag, in case you ever need it when you’re away from home. Some families choose to buy medic-alert bracelets for their children (particularly if there is significant heart involvement). Print out and carry our Emergency Card. A travel medications bag can also be helpful so they are all ready to go if you had to leave in a hurry (in case of an emergency) or just when running late for appointments or an outing!
Make sure you write down appointments on a calendar, in a diary, or put them into your phone. Children with GACI/ARHR2 often have many different teams involved so can have lots of appointments. There may be endocrinology, cardiology, genetics, dentistry, ophthalmology, hematology, physical therapy, exercise therapy, psychology, just to name a few!
Be Your Child’s Best Advocate
Educating yourself, as discussed above is the first step to being an effective advocate for your child. In publications on GACI, the outlook can be very grim with a high fatality rate. It is therefore not uncommon for doctors to present a very negative perspective for our children’s future. A common theme amongst families affected by GACI/ARHR2, is that they have had to fight for doctors to treat their children in the way they believe is best. Doctors may limit treatment options (e.g. state the child is not suitable for ECMO or transplant) or encourage abortion (for fetal diagnosis) because they believe the condition is not survivable. While it is true that the first 6 months of life are critical for our children and many do not make it through this period, some do and they go on to live well with a good quality of life.
Be prepared to be vocal. Question decisions that you don’t agree with. Seek second (or third) opinions. Many hospitals will offer second opinion pathways. For example, Boston Children’s or Children’s Hospital Of Philadelphia can provide a second opinion, even if you do not live in the USA (please refer to their websites for details). If something doesn’t seem right or you don’t understand it, ask again. If an appointment is booked for a date that seems too far away or doesn’t match with what the doctors had said, request it to be changed. Hospital workers are human and busy so mistakes can be made, paperwork can be lost and appointments can be forgotten. It becomes your responsibility to double-check everything.
A doctor’s decision is never final, if you don’t agree with it. Within hospitals, there are ways to contest decisions if you do not believe they are in the best interests of your child. There will usually be a patient advocate/consumer liaison person that can assist you and various pathways such as clinical ethics boards or escalating to executive level, etc.
As your child gets older, encourage them to take ownership of their condition. This may also help to give them a sense of control (in a situation where they may feel frustrated and a loss of control). Teach them about their condition and involve them in medical discussions (in an age-appropriate way). Let them help to make decisions and give them choice, where possible (and suitable for their age and maturity level). For younger children, this may be as simple as letting them choose whether they take their medicine out of a syringe or off a spoon, or what color bandaid they get after a blood test. For older children, this might mean choosing what time of the day they take their medications (within limits of what is appropriate for that drug) or what physical therapist they see to manage their physical activity levels.
After appointments, talk to your child, see if they need you to explain anything further, check their understanding of the discussions that have been had (you may ask your child to repeat back to you what they understand from the appointment or get your child to relay the discussion to your spouse/sibling that wasn’t in the appointment so you can hear what they’ve understood). Encourage your child to ask questions (to you, the doctors, or other health professionals). Be as honest as you can with your answers.
As your child becomes older, it can be important that they learn how to advocate for themselves (in the same way that you had to learn how to advocate for them). You will not always be by their side as they grow up e.g. when they are at school or at friend’s houses and eventually they may move away to college and so forth. Giving them the skills to navigate the healthcare system and advocate for themselves is extremely important. Giving them knowledge is the best way to do this. Self-confidence is also important. Your child will need to learn how to recognize the symptoms that they are feeling and know to alert someone. For example, you want your child to feel confident to tell a teacher if they have joint pain during a physical education class or chest pain/shortness of breath while running at school, etc. If your child requires medical attention while you are not present, it can be helpful if your child can give a brief explanation of their condition or know what medication they should take, etc. If your child is asked to do something that may not be appropriate for them, you want them to be able to speak up and explain why it may not be safe for them to do so.
Establish Your ‘Village’
Set up a support network of family and friends around you and your child. Know who you can call on for help:
If you would like to discuss something with a doctor and you would rather your child didn’t hear, can someone come with you to mind your child in the waiting room while you chat with the doctor after the examination is complete?
Who will mind your other children while you attend appointments?
If you are running late at an appointment, who will pick up your other children from school?
Who will feed your dog during a hospital admission?
If you had to take your child to the hospital in the middle of the night, who can you call to help?
Knowing who you can call on in advance can help to take some of the stress out of these situations.
Ask For (and accept) Help
Following on from the previous point, do not be afraid to ask for or accept offers of help. Whether that be informal support from family and friends or formal supports such as social work and counseling services. It is a tough road that we are all on and there is no shame in acknowledging that you need help. You will often find that loved ones desperately want to help (people tend to feel better if they know they are ‘doing something’) but may not know how to. Give them guidance as to what you need and the best way in which they can support you. If you are embarrassed to ask, let them read the section on our website on Strategies & Tips For Family & Friends.
As children affected by GACI/ARHR2 become preteenagers and adolescents, they may struggle with identity issues, concerns about their own futures, or may feel they cannot keep up with other children (due to joint/bone pain or heart condition), etc. It is important that they too, ask for help and feel they have someone to talk to.
Recognize that you are not alone. Although you may be the only family at your hospital or in your state that has experienced this diagnosis, there are others across the world who have walked in your shoes. Talk with other families affected by GACI/ARHR2 from across the world, connect with other doctors that have treated this condition before, seek resources and medical literature from around the world.
Engage With Support Groups
You may have mixed feelings about engaging with support groups and for some, the point of diagnosis may not be the right time to do this. For others, they might find great support in accessing one of these groups immediately. It is a very personal thing and it is up to you as to how you utilize these supports that are available.
The GACI/ARHR2 Support Group for Families on Facebook is a great place to connect with 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. 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).
There may also be other support groups that are appropriate such as heart kids or cardiomyopathy foundations. There may be support groups for some of the symptoms of GACI e.g. PXE. There may be a Rare Disease organization in your area that covers rare diseases in general. These groups may be a safe space for information sharing, meeting friends, debriefing, and often can be an outlet for our children as they get older. Many groups will also offer activity days, family outings, and children’s camps.
Prepare Your Child for Medical Tests/Investigations
Children with GACI/ARHR2 generally require regular tests including echocardiograms, EKG/ECGs, blood tests, ultrasounds, x-rays, bone density scans, MRIs, and CT scans. These tests may evoke anxiety in some children. It is a good idea to try to develop strategies that make these investigations more tolerable for your child. From as early as infancy, try to avoid restraining your child as this can sometimes be more distressing than the procedure itself. If your child is required to lie still, you could try cuddling them in your arms, placing toys in their hands, or distracting them with bubble blowing, singing, etc rather than pinning them down on the treatment bench. If you can (and it’s allowed by the facility), it is often best to remain with your child throughout a procedure to comfort and reassure them. This is obviously a very personal decision though and you need to do what works best for you and your child. There is likely a play therapist or nursing staff that you can speak to about things you can try to ease the stress of procedures.
Medical play may be helpful for younger children so they know what to expect. For example, you may pretend to use a stethoscope on their dolly or use a play doctor set (there are even toy echo and EKG/ECG machines available online!)
Taking comfort items to a procedure or hospital admission can also be helpful e.g. their favorite teddy or blanket.
Sometimes a fun routine that is centered around a visit to the hospital, makes it a more pleasant experience – a visit to the cafe or play area, a trip to the fish tank or other feature of the hospital, a special exemption from homework, or something else that your child would consider a treat.
Be mindful of the language you use when speaking to (or in front of) your child. For example, if your child is afraid of general anesthetic, you may choose to avoid phrases like ‘it will put you to sleep’. Children may be afraid that they won’t wake up (often when we talk about putting down animals to children we may say ‘put to sleep’ which may be a negative association for them). It may also cause sleep disturbances as they may become afraid to fall asleep at night time.
Taking a favorite teddy along to cuddle while a blood test is being done, or a cannula is being inserted can be a good distraction.
Sometimes it’s possible to have a special numbing cream applied an hour before a blood test is to be done and this can reduce the discomfort. Alternatively, a freezing spray can also be used if the doctors don’t feel it would make the veins more difficult to access.
Keeping hands and feet really warm (wear gloves and socks) can help make veins easier to find for a blood test and drinking fluids (unless told to fast) can help too.
There is a special remove spray that can be used to remove sticky bandaids and this really helps with removing the sticky tape from cannulas and bandaids. It is also possible for children who stress over needles to be given a mild sedative to help them to relax in advance of a blood test. Be sure to ask for any or all of these if you feel your child could benefit from them.
If your child is afraid of needles, instead of putting words and expectations in their mind prior to the test by saying phrases such as ‘it won’t hurt’ or just a little sting’ or ‘it will only hurt for a minute’, you could ask them to tell you how it feels afterward and you could ask them what they think might make it better/easier for next time. Again, seek assistance from the psychologist, play therapist, or nursing staff at the hospital that you attend, if this is a problem for you or your child.
Nobody knows your child like you do. Try to explain (the best you can) to those around you what your child and your family needs. Your loved ones are likely to be desperate for information so providing concise, accurate information can be helpful. You may choose to just have one or two main contact people that you relay information to and allow them to filter the information to others. You might find writing key points down or sending details in a text message may be a good way to ensure the information that is being disseminated is accurate. This might relate to details about your child’s condition, test results, hospital discharge plans, or simply your preferences about visitors coming to the house or what help you might need. Most people desperately want to help but most don’t know how to. Good communication can usually avoid any awkward or uncomfortable situations and ensure you get the right help at the right time! Many have also found Facebook pages or blogs can be useful tools to get information out to a wide network quickly.
It is also important to educate other health professionals that may be (or may potentially be) involved in your child’s care. It is not uncommon for children with GACI/ARHR2 to be treated at major hospitals that may not be the closest facility to your home. It might be a good idea when you return home to notify your local hospital and provide them with a ‘fact sheet’ about your child’s condition and any important information (e.g. accessing blood vessels is difficult, doesn’t have palpable peripheral pulses, etc). Your general practitioner, ambulance service, other health professionals may also benefit from receiving similar information. This allows people to be prepared if you ever needed to use them or in the case of an emergency.
Know What Resources Are Available (and use them)
The time of diagnosis can be very overwhelming for families. You may not know how or where to access resources. This may relate to medical information (hopefully this website can help with that!), financial or accommodation assistance, or support groups.
The costs associated with a child with a chronic health condition adds up over time. These may include medication costs, doctors’ visits, time missed from work, health appointments, travel and accommodation for appointments, or admissions. Any financial assistance that you are entitled to is therefore worthwhile accessing. This is likely to vary depending on what country you live in. You may be entitled to a weekly/fortnightly/monthly carer’s payment, subsidies for travel and accommodation costs, reduced parking fees at the hospital car park, or discounted medications. Many major hospitals will have designated accommodation for families free of charge or at a low cost (eg Ronald McDonald House). Your hospital social worker or citizen’s advice bureau may be able to assist you in this area. Talking to other families in similar situations or on your hospital ward can also be helpful to discover what’s available. As mentioned earlier, support groups can also be useful to access. Many have Facebook pages where you can ask questions or engage with other parents. There are often flyers posted around the hospital advertising what groups are available.
Give Yourself Credit (and a break)
Being a parent of a sick child is really tough. It can be overwhelming, exhausting, heartbreaking, challenging, rewarding, and uplifting…and sometimes it will be all these things in one day! You will very quickly get sick of people telling you to ‘look after yourself’. It is completely natural to make your child your first priority and to forget about your own needs. The problem is, there is only a limited time that you can sustain that for. At some point, you need to eat, sleep and breathe fresh air. It is important to remember that this is a marathon and not a sprint. You need to at least look after yourself enough to remain well and capable of caring for your child (and your family). If this means, getting your partner/visitor to bring in fruit and a sandwich when they arrive at the hospital each morning or asking a friend to cook a meal and drop it at the hospital/your home. It could be having someone come in to sit with your child while you have a shower if you’re sleeping in the hospital with your child. It may mean having one night a week that someone else stays overnight in the hospital or going for a walk (or a wine!) at least once a week. As you get further into your journey, it may mean having a date night once a month with your partner or joining a gym. Whatever it is, allow yourself some ‘me’ time and some time as a couple/family. Celebrate the wins (no matter how small they may be) and lean on each other through the harder times.
Give yourself (and your partner/family) credit for the job you are doing. Recognize that you have succeeded in learning how to do a nasogastric feed, draw up a medication, or that you know what the coronary artery is! By the same token, don’t stress or beat yourself up because you can’t remember the name of that medication (bisphosphonate is a long word!) or you’ve pronounced a medical term wrong to a doctor. It is all so foreign at the time of diagnosis but these words will soon become part of your vocabulary and the skills will become second nature (and if they don’t, that’s okay too).
Don’t hesitate to ask for help from others or talk to someone about your struggles. Access psychology or mental health supports, as required. It is becoming more recognized that parents can suffer post-traumatic stress disorder after a stressful medical event for their child. If you feel like you may be affected by this, seek support early. Mindfulness activities or phone applications may also be helpful for some people. It is completely natural to grieve for the healthy child that you had expected/hoped to have.
It can be a challenge to get childcare for a child with a chronic condition. Childcare providers and even family members are terrified that something will happen while the child is in their care. Try to include family members in learning how to care for your child to make them feel more secure in offering to babysit. It will also make you feel more comfortable in leaving your child with them. Sometimes regular childcare is not an option for a child with a chronic condition, there may be too much potential for catching infections or your child may need extra care not normally provided by a childcare provider. One parent may have to consider staying at home in the early days, both to mind the child and attend hospital appointments.
Schools are usually very accommodating to students with special needs, they can allow students to use the lift instead of the stairs, facilitate taking medication during school hours, ensure that teachers know what the student’s limitations are regarding physical education, etc. You should arrange an appointment to discuss any special requirements with your chosen school and provide them with a fact sheet on your child so that they know what to do in the event of an emergency. Good communication with the school is important and it may be useful to have a special journal for notes to the teacher and vice versa.
Siblings will need extra attention and may feel jealous or angry that their parent’s attention is being taken away from them. They might be worried or scared that they will lose their sibling. Try to set aside special one-to-one time to spend with your other children and make sure they don’t feel pushed aside – even 10-15 minutes one-to-one time a day would go a long way. Tell them what is happening in an age-appropriate way. Be available to talk to them and discuss their concerns. Let them help with the baby in small ways – like fetching things or rocking a crib or even just playing peek-a-boo! If possible try to still have fun together as a family whenever you can. Take up offers from friends and family to entertain your other children, or ask them to mind the baby so that you can do some activity with your other children. Try to make sure that they don’t overhear conversations that are private – kids hear more than you think.
Recognize That Your Journey Is Unique
When first diagnosed (or at any point through the journey) it is quite natural to want to find someone else’s story that aligns with yours and compare outcomes (e.g. their gene mutation is the same as ours and their child did/didn’t do well, so we can expect the same). Unfortunately, there is no way to predict what your journey is going to hold. Even siblings with the exact same gene mutations can have very different presentations and outcomes. You just need to take each step as it comes and tackle each hurdle, one at a time.
Know Our Children Are Resilient
There will inevitably be times when the going gets tough. Have faith in the strength of your warrior. You will be amazed at how resilient our children are.
Hold Onto Hope
Many families who receive a diagnosis of GACI have been told to say goodbye to their children and that nothing could be done to save them. However, some of those children defied the odds and are alive and well today. While unfortunately not all our children make it, some do and there is no reason to stop wishing/hoping/praying for the best outcome for your warrior.