So I'm writing a new post for that audience - if you are the parent of a child with 4q deletion syndrome, and you made it to this blog looking for information, here are some of the things I wish I would have known from the start of our journey. I'm not a doctor, just a parent, so any medical questions should be taken to a doctor. And I'm an American, so many of the things about health care and education might be different in different countries - but hopefully there are some ideas here that can help you.
My son Josh is currently 12 years old. Here's his medical story; here's a description of the memoir, written by his dad, about what the first few years were like from the parent's perspective; here's the post about what it was like when we got his genetic diagnosis; and here's how he's doing now. And here are some of the things we've learned along the way:
First things to do when you get a genetic diagnosis:
- Check out the Unique website. They have a section called "free disorder guides" that is by far the most helpful compilation of information I've seen about the various genetic diagnoses. You will want to know your child's exact diagnosis to find the guide that is most helpful to you. In 4q, you will want to know if your child's deletion is interstitial (in the middle of the chromosome) or distal / terminal (at the end of the chromosome), and also how big the deletion is. These things will help you figure out which guide to get, and which parts apply to your child. (It will also help many of your specialist doctors to know the exact diagnosis, as they research questions.)
- Look up 4q deletion syndrome support groups on Facebook: this one and this one are both really good. These groups are private, and the parents have a wealth of knowledge about all kinds of things related to 4q. They are also an excellent source of emotional support, especially in those early days. I would not know a single other parent of a 4q child without these groups, and now, thanks to these groups, I am connected to hundreds.
- Find a really good pediatrician. You will likely be dealing with many doctors and therapists in the early days, and the pediatrician is the doctor who knows the whole medical situation and will know where to refer you as different problems arise, and who keeps track of all of it as things move along. They will also be the easiest office to get into quickly and the easiest doctor to get on the phone same day. Find someone who is knowledgeable, kind / encouraging, and great at processing referrals and prescriptions and all the paperwork.
- If you child is ages 0-3 and you live in America, contact your local Early Intervention office and request an evaluation. This program provides free in home speech therapy, occupational therapy, and physical therapy to children who qualify. Therapies are SO effective in these younger years, this is a good thing to tackle right away. If your child is over age 3, then consider getting evaluated through the school system or by private speech and occupational therapists, as therapy will likely remain an important support through much of childhood.
- Again on Facebook - check to see if there is a local special needs group. This is the best place to get feedback on different local doctors, schools, therapies, adaptive programs - all things pertaining to the world of disabilities. It's also a good place for emotional support.
Things to know if your baby is born with Pierre Robin Sequence and / or uses a feeding tube:
- If you have concerns about breathing, don't wait - take it to the doctor right away. Ask about a sleep study.
- If you have concerns about your baby aspirating while eating, same thing - go to a doctor right away, and ask for a swallow study.
- If your child's jaw needs surgical intervention and they are offering the choice between jaw distraction and tongue lip adhesion, I would strongly suggest doing the jaw distraction. I would also strongly suggest that it's worth traveling if they feel that this would be the best intervention for your child, but they can't do it at your local hospital.
- If doctors anticipate that your child will need a feeding tube for more than a couple months, it is a good idea to get a G-button rather than an NG tube as soon as possible. This will make life easier for you and will help prevent oral aversion.
Our son Josh had a feeding tube for five years - here's a post about what I wish I would have known from the start, here's a link to a great website with tons of information about feeding tubes, and here is his story of weaning from the feeding tube.
Things to know related to doctors:
1. If it's possible to see most of your doctors within one hospital system, do this. The more doctors can see each other's electronic notes, the better overall picture each of them will have about the health of your child. This isn't always possible - we live in a location where most of our doctors do not electronically file share, and where we have to go out of state for some of the care - in this case, do your best to keep all the paperwork and to write down the important things from appointments, so you can communicate it to other doctors.
2. Know that specialist doctors are great at their practice area, but often are not thinking about the rest of the medical picture. So, for example, if one doctor wants to prescribe a medication that will suppress your child's appetite, and another doctor is trying to help you increase eating so that you can wean your child from a feeding tube, it will be up to you to communicate to each doctor that these things are working against each other, and it will probably also be up to you to decide which piece takes the priority.
3. Keep paperwork from doctor's appointments, not just to share with other doctors, but because you will need some of it in the future to help qualify for insurance coverage, school services, and things like that.
4. You will meet some absolutely fantastic doctors - hang on to them, show them gratitude and appreciation, do as many of your visits with them as you can. And then you will meet some doctors who make you wait hours for appointments every time, who will not get around to looking at the studies they ordered for you until you have called them multiple times, who will not treat you or your child with thoughtfulness or respect - these are signs to look around for a different practice.
Things to know related to school:
- After age 3, many of your child's therapies will be provided through the school system. Sometimes it's still helpful to supplement this with private therapy if you are able to, such as for feeding therapy and help with sensory needs. These therapists can be really helpful in teaching you how to work with your child at home, and they can help with a really wide variety of developmental needs.
- If your child qualifies for special education services, all of that will be contracted in a document called the "IEP" - here is a post I wrote about IEPs. And here is a very helpful website that answers tons of questions about IEPs.
- Like the doctors - some of the IEP team members will be the best humans you've ever met, who would do anything to help your child; but you might meet others who make everything a fight. If you have trouble getting school services for your child, search for IEP advocates in your area. You can often get affordable help from a local non-profit.
Things to know related to health insurance / money:
- In many states, children with a disability can qualify for Medicaid even if the family would normally be over income. Google "Katie Beckett Medicaid" and see if your state has this program. Even for kids with good private health insurance, Medicaid as a secondary insurance can be such a help in covering the deductible / copays. Also, many private insurances limit their coverage of private speech therapy and occupational therapy, but Medicaid will cover it.
- If your baby has special medical equipment such as a trach, oxygen, or a feeding tube, you might be able to qualify for nursing care. This is worth investigating if you have an adult staying up all night every night to watch the medical situation, or no one is able to babysit for your child because of the medical complexity.
- If you need to travel for medical care, there are sometimes nonprofits that help with these costs. Insurance can sometimes help with costs. Many children's hospitals have a Ronald McDonald house, which provides rooms at a greatly reduced rate and homecooked meals most nights. Shriners hospitals provide rides to families traveling from out of town. It's worth asking around - if your children's hospital has a social worker, they should be a good source of information about this.
Last words of advice and encouragement:
- Listen to your instincts - you know your kid best! If you feel like something should be checked out with a doctor, or there should be a conversation with the school - follow that intuition!
- Be the squeaky wheel - this is not comfortable for many of us (me included), but if your child needs some kind of accommodation or therapy or medical treatment, don't be afraid to ask, and keep asking until it gets addressed.
- It gets easier! You will get better at navigating the doctors, the systems, the school meetings, and your child's needs. Before you know it, you will be giving advice and encouragement to other parents :).
- Our kids are the absolute best - you will be amazed how, along with the struggles, comes extra reasons for joy and celebration.
- I wish I could have seen from the very beginning what life would look like at age 12. You start out in the most intense part, with hospitals and surgeries and countless doctor's appointments. Now, Josh's life is mostly school and playing outside and Minecraft - it would've been so reassuring to see from the start this happy, thriving 12 year old.
