Genome Sequencing is the wave of the future for diagnosing and treating medical conditions. Back in high school we were all taught about genes. Humans have 23 chromosome pairs – half from their mother and half from their father. Since the discovery of chromosomal pairs and genes, scientist have been able to drill down further to uncover the building blocks of our genetic makeup. If you break it down into smaller pieces you get to genomes. Genome sequencing is the road map to your genetic makeup. It will drill down on the various mutations in hopes of providing answers to the cause and best treatment for diseases. Often cancer treatments can be personalized based on the genetic information. Researchers are finding many uses for Genome Sequencing in diagnosis and treatment and medical policy.
More and more hospitals are offering genome sequencing to their patients. In order to do genome sequencing, you will need to have a blood draw. The price of genome sequencing has decreased dramatically in recent years; but is by no means cheap. If you are lucky enough to consult with the National Institutes of Health in Bethesda, MD they will provide one at no cost to their patients.
According to The National Institutes of Health, “The Human Genome Project estimated that humans have between 20,000 and 25,000 genes. Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes (less than 1 percent of the total) are slightly different between people.” These mutations can sometimes lead to health problems. “Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic decision-making).” If you want to know more about the science of it, we recommend going to the NIH site and reading further.
The idea behind genome sequencing is that we can have more personalized medical treatments. When my family’s genomes were sequenced for research into my son’s health condition, we did get answers. They found my husband had a genome pairing with a mutation on one half which did not seem to affect his health. Gavin inherited that mutated genome and unfortunately the other side of the pair mutated on its own creating a genome that was defective. While doctors had been studying this defect in mice at Cincinnati Children’s, they had never met a patient with the mutation until Gavin. From this information, the doctors knew that a bone marrow transplant would fix his health permanently if he survived it. First though he would require an undamaged liver. Autoimmune hepatitis from his defective Genome had taken its toll. Unfortunately, his weakened immune system did not work well enough when he went through a liver transplant in order to prepare for the bone marrow transplant. An infection took our beautiful son from us.
The genome sequencing has lead to a whole new field medicine called gene editing. If we know which genes are malfunctioning, it stands to reason we can figure out how to switch them out. Crispr is attempting to do just that. Wouldn’t it be world changing to be able to fix chronic illnesses and diseases without knives, radiation and chemo?
Strides are being made and this article about Crispr is worth reading.
We know so much about the human body, but still have a ways to go. Research is the key and for research there must be funding. NIH is funded by the government and many hospitals and science labs receive funding through NIH and private donations. While current medicine was unable to cure my son, I hope to see others cured in my lifetime.
Going to the hospital with your child is hard. Going to the hospital far from home with your child adds several layers of difficulty to your stay.
No popping home for forgotten items.
No friends to come keep you and your child company and stave of boredom or distract from worry.
Less time for both parents to be there together (especially if you have other children at home).
It requires coordinating carpools, entertainment, homework help, meals and emotional support for the ones left behind.
Our hospital journey started with our first 8 day stay at the local hospital when my son Gavin was 2. His brothers (6 and 8) were home with family support. Thankfully we were in a household with both parents and lived in the same area as grandparents and good friends. That was a long 8 days, but we managed because of the support we had. Dad could still go to work and pop in for the evenings. I was lucky enough to be able to stay the entire time with Gavin. I really felt for the kids on the hall whose parents could only come visit after work and were left to be entertained by the nurses and Child Life Specialists.
Our second stay consisted of days and weeks and eventually months at a large children’s hospital downtown DC when Gavin was 6. With traffic, the trip could take over an hour each way and the logistics became trickier, but not impossible. I stayed all week, with my husband visiting each evening after work, and then we switched out and I could go home to spend time with the older boys on weekends. There were lots of trips back and forth to the house. We would often get released after a few days or weeks only to return for a follow up check-up and end up being readmitted. I learned very quickly to lower my child’s and my expectations and pack a bag for each of these appointments. It didn’t stop me from stepping out in the hallway to call my mom for coverage of my older boys in tears as the worry mounted, but again, it was relatively close by.
As Gavin’s diagnosis and treatment became more difficult, we lost faith in the doctors and decided we needed to make a move. By the third hospital we were traveling from Virginia to Johns Hopkins in Baltimore, MD. With traffic it could take over two hours to get there. My husband, Keith, still tried to come each night to see us after work, but that meant not getting home until close to midnight and missing our 9 and 11-year-old sons completely. Some nights he could not come at all. We switched off on weekends when things were stable.
The first night I arrived in Johns Hopkins ICU it was 2 a.m. Keith had left us at the hospital in Northern Virginia around midnight after seeing Gavin airlifted in a helicopter while on a ventilator to Johns Hopkins. My husband once again took over caring for our older boys, while I made the drive to Baltimore. That trip had the least amount of traffic, but it felt like the LONGEST drive imaginable. When I got to the ICU there was nowhere to sit in the room let alone sleep. Gavin was sedated and on a ventilator for the next two weeks as he fought PCP pneumonia. The Johns Hopkins Children’s Hospital had very limited capacity for parents in their old part of the hospital. A new wing has been built since our stay and I hope they have taken parents’ sleeping arrangements into consideration. However, ICU is not a place to sleep. Round the clock intense nursing requires parents to find sleeping accommodations elsewhere. At most you will have a sleeping chair or couch, but there are no guarantees. Only when I asked about sleeping arrangements, was I directed to a parent’s room in the hospital that had 6 beds with curtains separating us.
From there I worked with the social worker assigned to me through the hospital to find a local place to stay. Hospitals usually have discounted rates at nearby hotels, but even with discounts those costs add up quickly. The social workers usually have a list of places that you can apply for with their help. Ronald McDonald Houses and other organizations often set up near hospitals, but you can run into wait lists and the demand often exceeds the supply. There are usually requirements about how far away you live from the hospital for these types of places if they are in high demand. Coming from Virginia, we were eligible and lucky enough to find a room at Believe In Tomorrow Children’s House, just down the street from the hospital. It was an advantage to be able to go back and forth if necessary, in the middle of the night without driving. My hospital time usually required a prescription of Ambien since I am a light sleeper and stress does not help that situation, so driving was not an option.
I have found hospitals in large cities makes it harder on parents (especially moms) who have to wander the unfamiliar streets at night. Some hospitals near college campuses arrange for football players from the university to escort parents late at night as a community service.
Most large hospitals in bigger cities have housing options for parents, but it can be hard to find them without the help of a social worker from the hospital. The rates at these houses are greatly reduced compared to hotels. They have cooking facilities and dinners provided by local volunteers. Another advantage to these kinds of housing options is that they provide a place to park your car at no cost. If they are too far from the hospital to walk, they usually have shuttles. Hospital parking can be quite expensive. If you are living in the hospital with your child, ask your social worker for parking validation tickets and food vouchers for the hospital cafeteria. They can often help you with those, as well. Do not be afraid to ask your friends for help. Many will ask, “What can I do?” We had close friends would organize road trips from Virginia to bring us goodies and restock the house where we were staying with food and supplies
We spent years in and out of Johns Hopkins. We had monthly, then quarterly, checkups when Gavin was in a stable place, followed by weeks of hospital stays as we watched his liver deteriorate due to auto-immune hepatitis in 2016. We fell into the usual routine of me staying with him in his room during the week and swapping with my husband on weekends.
His final hospital stay was at the Children’s Hospital of Philadelphia (CHOP) years later in 2017. He was on the wait list for a liver and too sick to be home. The transplant team at CHOP had agreed to do a liver transplant, but unfortunately no family members were a match to donate. Our new hospital, even further from Virginia, presented more challenges. No more evening visits from my husband or friends coming by. He came on weekends and perhaps stayed an extra day or two, if we had coverage at home. Holding down a job during these times is critical to your healthcare plan so sacrifices were made. His work was wonderfully understanding, but he was still trying to find quiet places with good cell phone coverage to conduct conference calls for work within the hospital.
Our network of friends connected us with their friends in Philadelphia and suddenly we had friends of friends dropping food and hugs off at the hospital entrance. Then meeting us for a coffee in the cafeteria to give us a break. Ultimately coming to our son’s funeral when the worst happened. They will be lifelong friends after supporting us, total strangers, through our tragedy.
When you are in the thick of it, just remember to put one foot in front of the other and be strong for your child. Rely of those that offer help. Family, friends, Social Workers and even total strangers will do what they can to ease the path forward.
When you are in an intense situation like having a child in the ICU, that child becomes your priority as it should be, but your other children still need support (see Blog Caring For Your Other Children While Your Child Is In The Hospital). There is only so much you as a parent can do, but my best advice is that you and your spouse be as supportive of each other as possible and work as a team. Figure out each other’s strengths and weaknesses but don’t hold them against each other. My husband was fantastic at research while I was better at the hands-on care giving. He couldn’t tolerate the machines beeping in the room and had to take frequent breaks, while I found it hard to leave my son for any length of time. Some days he was the strong one who supported me and other days I propped him up.
If you have a child in the hospital and other children at home, you know without a doubt you will need help. Hopefully you are in a community with strong ties of family or friends or a church community. Depending on the age of your children, you may need round the clock presence at home with little ones or someone stopping by to make sure things are under control in the case of teenagers. Over the course of our youngest son, Gavin’s, long illness and multiple hospital stays, we had other children ranging from 6 and 8 years old when he was first admitted to a hospital, all the way up to 18 and 20.
Each age has its own challenges. What do the other children understand about what is going on? How will they interpret mommy and daddy being pulled out of their daily lives? Will they fall off the rails emotionally or in school? Will they try to take advantage of their parents’ absences? Each child at each age will of course act differently and it is really hard for parents to keep an eye of them when their focus is on the sick child.
First thing to do once you have coverage for your children and know their basic needs are being met by family or friends is to contact their teachers and counselors at school. Lay it out for them what you are up against and ask for their help. If homework slides you want the teacher to be understanding. Your child in the hospital will also have to deal with the schoolwork they miss (Missing school will be another blog post.)
Depending on the length of the hospital stay it may be a small blip in their lives or a giant hole. Try to set up a new routine of Skyping or calling on a consistent regular basis, if you are not able to pop home. Hopefully one parent will be able to remain at home and come and go from the hospital as a way of keeping the children in their regular routine as much as possible. Even when we were at the local hospital and not hours away, my husband would come straight from work to the hospital and rarely get home before the boys were in bed when they were little. We relied heavily on their grandparents who lived locally and moved into our house for weeks at a time to care for them. We got complaints from the children that, “Granddaddy won’t let me…” but we were so appreciative of their help. In some ways the relationship between the grandparents and grandchildren changed from nice fun visits to rules and laying down the laws about bedtimes and screen time, but they stepped up to the challenge which is what we needed from them.
Anyone who has been a teenager and raised a teenager knows that it is a tricky time in their lives. They push limits and boundaries (at least mine did) and they often take advantage of parental absence. Even with grandparents playing a roll, teens can see what they can get away with and be completely self-centered at times. I recall the phone call from the Principal of my oldest son’s school a week after I arrived home following a 3-month hospital absence with my son Gavin (ICU for 4 weeks, regular floor for 4 weeks, rehab hospital for 4 weeks). He was being suspended. I could not believe I had to deal with this problem and was furious at my son for laying yet another thing on my plate. After some reflection, I decided that in the grand scheme of things I should not be surprised that he was acting out and a suspension was, after all, not life and death, which I had just lived through with Gavin. Sick children tend to put your life into perspective.
Family and friends stepped up to try to be a presence in my middle son’s life, but he found himself on his own much of the time. My oldest son was, by this time, in college on the other side of the country and not living in the day by day stress. However, not being there is stressful, too. It is hard to concentrate on a lecture with this kind of family drama going on.
In what ways has your family coped when there are other children at home?
My very first blog. Wish me luck! Here are a few things to consider when packing for a hospital long stay. The first things you will need are favorite comfort items. My son, Gavin always brought his stuffed animal “Sharky”, a fleece poncho (the first prototype I made for what would become CapeIvy.com) and his pillowcase full of old Halloween candy. Even though he rarely wanted candy, he found it comforting knowing it was with him. I myself brought my favorite stuffed dog, Wilber (given to me by my husband when we first started dating). After all caretakers need comfort too!
Secondly, pack things to relieve the boredom. Hand held video games, iPads/tablets, books and movies are a must. Most rooms in hospitals have DVD players, but it might be worth a call ahead of time to make sure. If not, bring a portable one from home or computer for streaming. I brought a gift from my business partner, Cindy, of colored pencils and drawing pad. I drew the logo for our business CapeIvy.com while sitting in a hospital staring at an IV pole.
The third idea is along with your toiletries, you should consider packing shower shoes (rubber sandals work well) if you are a person who doesn’t love the idea of standing in a shower that is basically the entire bathroom floor. Yes, they come and clean the rooms regularly, but you can never be too careful with germs in a hospital.
If you want to add a little personality to your wardrobe while in the hospital, I recommend fun fluffy socks with non-skid bottoms. Hospitals insist on the non-skid to reduce accidental falls. We are getting ready to launch fun, hospital approved fluffy socks in addition to our cozy poncho capes. After all, being warm and cozy while undergoing treatment makes for a better hospital experience.
What else have you packed for long stays as a parent of a pediatric patient?
If you have read or listened to our media links, you may have come across the term “Child Life Specialist.” Many of the specialists have the letters CCLS after their names, for Certified Child Life Specialist. The CCLS is a medical care social worker in a hospital setting.
These specialists are the wonderful people in children’s hospitals who help children and their families with their hospital stays. Their roles are many: from play time to providing toys and activities, to comforting, to receiving donations, to education and emotional support, and a long list of other responsibilities.
It is usually the Child Life Specialists we meet when we visit a hospital to donate our ponchos. They are the people who decide what children will receive our capes.
This month’s alumni magazine for Boston University (Cindy, MBA) has an article about a program that BU offers in their College of Education & Human Development. The career outlook is positive (Bureau of Labor Statistics) for the next 10 years. If this is something that you might like to do, the first step is to volunteer, volunteer, volunteer. Learn as much as possible to see if this job is right for you.
If you have had a stay in the hospital with your child, did the Child Life Specialist help you with the stay? We welcome comments on ways the CCLS team helped ease your stay.
If you would like to thank the Child Life team following your child’s hospitalization and plan to donate in-kind gifts, consider donating Cape Ivy ponchos. For each poncho you purchase that is shipped directly to the Child Life department, we will ship a 2nd poncho. For example, purchase 3 ponchos and we will ship 6; purchase 5 ponchos and we will ship 10.