My child has just been diagnosed with CHARGE syndrome, what should I do?

BIG DISCLAIMER: I have no relevant qualifications other than being a parent of a child with CHARGE syndrome.

This is my attempt to provide a hand specifically for people who have just had their child diagnosed with CHARGE syndrome. There are so many things that you need to do it can be overwhelming. Here are some of the things that helped us and our child and therefore would recommend to others in similar situations.

• Get medical experts.
• Get a good baby sitter network for other kids.
• Early intervention (physiotherapy, occupational therapy, speech pathologist, hearing and vision specialists).
• Possibly learn sign language to give your child a language as early as possible.
• Get respite assistance.
  
• Get financial assistance.
• Get concessions.
• Get disabled parking permit.
• Look out for the emotional well being for yourself and the rest of the family too.
  
• Talk with your work about the extra time off that you are going to need with short notice over the coming years.
  

When dealing with medical experts:

• If you feel intimidated or overwhelmed then you can bring a support person with you. Advocacy groups in your state can help with this if you don't know someone who is outspoken and blunt enough. (Thanks for this tip Tricia)
• Make sure you have doctors who are willing to spend a lot of time with you (be prepared to sit in waiting rooms a long time to see these doctors).
• If you don't understand anything that they say (concepts or words) make sure you ask them to explain what they mean. It takes a long time to get up to speed but empowers you with the knowledge of what is wrong with your child and how you can improve their condition. Also get them to spell words that you don't understand so you can look them up at your leisure later.
  
• Audio record your consultation. Of course you need to get each doctor's permission before recording them. Listen to the Audio recordings. Recollections aren't as good as recordings and we sometimes find that we misunderstood what the doctor was saying in the consultation and it makes things a lot clearer. Also, if you can find the time, take notes from the audio recording (and mark how far through the recording it was taken from) so you can look over them again in the future. We have gone back to our notes a few times to look for information that was talked about but not written in any letter or report. We have found audio recording so useful that we are considering making it a requirement for when we choose doctors for Raphael. We have dealt with two specialists who have not permitted audio recording and we have found that we have not received adequate information from those consultations. Don't believe doctors when they say they will write a letter including everything that you have talked about, their letters contain useful information but are never complete enough.
  
• Write questions down on a piece of paper before you go to the consultation.
• Let the doctor run the consultation until the end when you have your questions.
  
• Ask the questions that you have even if you think that they have already answered previously, sometimes the answer is not what you thought it was going to be.
• Write down the answers meticulously and make them slow down if you can't keep up.
• Confirm each party's action plans at the very end eg:
• We will see the doc in 2 months for follow-up.
• We will arrange appointment with ENT to ask about airway problems.
• We will change feeding schedule to 600ml of milk and 150ml of puréed solids per day.
• Doctor will talk with ophthalmologist and surgeon to arrange combined eye and stomach surgery.
• Chase up your consultant after the appointment to make sure that they are doing what they have agreed to do.
  
• Request letters to be sent to your paediatrician and yourself.
• Obtain and maintain a complete file of letters and test results. Sometimes doctors are slack in giving you copies of reports and letters. Don't let it slip. Every letter and test result is useful and may be asked for in the future by other specialists. Organise the file so you can be sure to be able to find all of the information easily and quickly so that you can bring it out when it is asked for in other doctor consultations. Eg we file all letters from ENTs together, we also file similar tests together such as all echo cardiographs.
• Get second opinions. The decisions you make now could effect your child for the rest of their life.
• Keep a simple list of dates for when things happen (eg when tests were performed, surgeries, introduction of things like cpap, gastric tibes and when they stopped)
  

When dealing with allied health professionals and teachers (physiotherapists, dieticians, occupational therapists, speech pathologists, vision teachers, orientation and mobility specialists, hearing teachers):

• At the end of the therapies/consultations get them to write something short including:
• a comment on your child's progress
• next developmental features to aim for
• some things that you can do at home to promote development (you have plenty to do so make sure it is something that you are going to have time to do).
  
• comments that they think would be helpful for Doctors
• having combined session with multiple professionals is considered an advantage but make sure that you get input from each professional. Sometimes the quieter professionals sit back a bit much and you may have to actively encourage their input. In the same way, sometimes a talkative one will dominate the consultation, don't be afraid to say something like "I would really like to get the OTs opinion on his fine motor skills" to shift the focus.
  

When in hospital:

• treat it as much like home as you can.
• when nurses come around to see you don't feel that you have to stand on ceremony.
• if you want something (anything) ask for it.
• use the call bell thing, that is what it is for.
• in shared wards, 3/4 of people want to talk but don't know how to start.
• bring your own pillow for a much more comfy stay.
• if someone is going to conduct a painful test that you didn't know about then speak to a doctor first or find out who the requesting doctor is. If you don't know who the requesting doctor is then don't let them do the test until you have spoken to a consultant. It might be a mistaken order or supposed to be for someone else.
  
• hospital is a boring place. Bring something to do. Be careful about things that require power though, the hospital might not want you to plug in any equipment into their wall sockets. Instead make sure you have a healthy supply of batteries for all of your electronic stuff. I am very glad that I invested in a portable media player (you could buy a portable DVD player instead). The hospital might have a DVD player that you can use to play DVDs so you might like to splurge on a stack of them before you go into hospital to you can watch your favourite series or movies.
• don't feel that you are confined to your bed or room. Even when hooked up to all manner of machinery it still may be possible to go for a walk. Just press the call button and ask (if you want to).
• sleep at home not in the hospital (if your child will let you). There is not much that you can do at night that a nurse can't do and in a busy hospital there are plenty of interruptions to wake you up and wreck your sleep. Better to be come back in fresh and early then to be there all night, with nothing to do, and groggy and useless all day.
• doctors do their rounds at extremely unpredictable times. If you have to go out for some reason and you haven't seen the consultant yet then make sure you tell your nurse that you would like to see the consultant when they do their rounds because otherwise you might miss them.
  
• There are tonnes of people that might be called doctors (correctly or otherwise): students, interns, residents, registrars and consultants. Ask them what they are before spending time talking with them or being touched by them.
  
• Students: you are too busy to talk with these poor sapllings. Give them a polite smile and then forget that they are there.
• Interns: shipped from department to department, they are doing everything for the first time. They often look like startled rabbits and may have nervous twitches. Don't let interns touch your kid, let them get their practice on someone less complicated.
• Residents: I don't think I have met many residents. I suspect that these guys are the ones that do what the nurses tell them to do (eg writing scripts for drugs).
• Registrars: These guys range from just useful to very competent. Get to know the registrars in your area if you can. They will be the ones managing tests and important medications.
• Consultants: These are real doctors with lots of experience (there are still good and bad of course). You will want to have consultants, who you know, managing each important area. These are the only people who are actually worth asking any important questions to but it is hard to get enough time with them. They will rarely perform tests themselves, although they are very competent in doing so. Always get consultants to explain the results of tests. If your consultant doesn't give you enough time or you don't understand them properly or you don't trust their opinion then get another consultant.
  

On a final note, I would be very happy for people to comment on this post to pick up things that I have missed.

Good luck!
Paul

It has been a long time

It has been a long time since my last post but I wanted to say that this year Raphael has undergone intensive speech pathology and his talking skills have take a couple of huge steps forward.

It is obviously still hard work for him to understand what people are saying to him but he is an eager learner and all the hard work that everyone is investing in him is being reflected well in his progress.