The Diagnosis - Now What?
You have just received the worst news of your entire life. You will have a host of emotions and will go through all the stages of grief, possibly more than once. But your child needs you now. You are his advocate and strength. You can do this, if not for yourself, then for your child. Friends of ours often said “I don’t know how you do it. I couldn’t make it if this happened to me”. But you can (because you have to). We’ve been there and we know it is possible.
Many families with newly diagnosed children as “Why Us?”. That is a fair question, as the odds of having a child with Krabbe are incredibly low. Approximately 1 in 150/250 people carry the faulty gene that causes Krabbe and both parents must carry this gene in order for your child to be affected with the disease. If you both carry the gene, each of your children has a 25% chance of having Krabbe disease, a 50% chance of getting the faulty gene passed along to them (being a ‘carrier’) without having the disease, and a 25% chance of not getting the faulty gene passed to them at all. As such, about 1 in 100,000 to 125,000 children born will have Krabbe disease.
What to do immediately after diagnosis:
A) Stem Cell Transplant Decision – Dr. Kurtzberg – Discuss with your doctor how to make contact with Dr. Joanne Kurtzberg at Duke University Hospital. We understand that there are many other places performing transplants currently, but Dr. Kurtzberg has the most experience. Your doctor may want to make the initial contact for you. If not, you can contact her at:
Dr. Joanne Kurtzberg (transplant physician)
1) We were told (back in 2004) to prepare quickly for travel to Duke. There would be an evaluation period that could take up to a couple of weeks, after which we would be told whether or not our son was a candidate. This decision is probably the biggest and most important decision you will make regarding your child’s disease. We would not begin to tell you the best answer for your child. You need to discuss it with your doctor, your family, and the transplant experts (and we recommend a lot of prayer). We suggest asking every question you can think of and ensure that the answers are current (which is difficult to do). This is an intensely personal decision for each family. It is a horrific irony of the disease that the most important decision related to the disease must be made when we know the least about it and are least prepared emotionally to make it. You may also wish to speak to other families about their decision regarding the transplant process.
2) We suggest contacting parents on the Krabbe Families Facebook Group regarding how they arrived at their decision to transplant or not transplant. On Facebook, search for “Krabbe Families” to locate the group. Click the button “ask to join”, so you will be able to post comments and respond to others who have posted questions.
3) Our Transplant Decision: Back in 2004, we were told that about 50% of the children die from transplant related complications. We were also told that “the average life expectancy is 13 months and death is certain by age 2”. Also, Dylan was already exhibiting symptoms of the disease. At the time, there was uncertainty about the benefits of stem cell transplant in children who already had signs of the disease. We ultimately decided not to go to Duke to pursue the transplant, but went to see Dr. Charles Peters at the University of Minnesota who (at the time) was focused on Krabbe disease management. If you decide to go through with the stem cell transplant, much of the care and disease management for your child will be handled (and/or overseen) by your transplant team. We did not have that blessing, which resulted in our “Captain of the Ship Issue”, discussed below.
4) The following link provides for a much less scientific explanation of the use of stem cells (with respect to a transplant decision) and will give you an overview of how stem cells attempt to work in children with Krabbe: http://healinganaya.blogspot.com/2011/12/krabbe-disease-krabbe-leukodystrophy.html
B) Feeding Tube Decision – This is the 2nd major issue that required us to make a monumental decision in the early days of diagnosis. Again, we were completely unprepared to make it. There is more discussion on Feeding Tubes in the Medical section of this website. Non-medical information, primarily in relation to the decision as to whether or not to utilize a feeding tube, follows below. Please understand that this decision needs to be made in consultation with your child’s physicians. The following is not medical advice.
1) If your child is undergoing the stem cell transplant, you will need to discuss this issue with the transplant team. It is our understanding that a feeding tube is automatic with the stem cell transplant.
2) If your child is not undergoing a stem cell transplant, your decision is less clear cut.
Our Feeding Tube Decision - We received conflicting information about this issue. Again, much of our issue resulted from not having a “Captain of the Ship”, as described below. To write these words in black and white seems an atrocity. A doctor in Minnesota advised us that in the end stages of Krabbe disease, a child is not hungry and not eating is a humane way for life to end. However, a pediatrician stated that he would never allow a child to, in effect, starve to death and would insist on a feeding tube. We were at a loss. At this point, Dylan was still eating pizza and loving it (gumming it, but handling it well). In the next few months, he underwent a swallow study at Vanderbilt. We were told that Dylan was aspirating when he swallowed liquids and there was a potential for pneumonia. We knew that most children with Krabbe ultimately die from pneumonia. We were also told that the feeding tube should be inserted early, while the child is still healthy enough to handle the surgery. We also had a friend whose child underwent the feeding tube surgery, and never smiled again. Ultimately, we decided not to put in a feeding tube immediately after diagnosis. We kept the decision as a continuous possibility (if necessary) throughout Dylan’s illness, but never did it. We were satisfied with our decision and felt it was the right one for Dylan for these reasons:
a We felt like eating was one of Dylan’s biggest pleasures in life. He would smack his lips when he smelled his food, even until the very end of his life.
b We held Dylan while feeding him, which significantly increased our “snuggle time” and physical contact with him.
c We felt like Dylan’s continuous swallowing to eat his food and drink his milk kept the applicable muscles active and functioning, which decreased his susceptibility to problems with secretions (which are extremely common). However, aspiration (taking of food or liquid into the lungs) is a risk that is greater with feeding by mouth than with a feeding tube. (We were also told that the risk of aspiration is not eliminated by inserting some types of feeding tubes.)
d Because we fed Dylan by mouth, we burped him after every meal and bottle. The burping process became almost a therapy for him, called Chest Percussion Therapy (CPT). CPT is valuable because it can break up congestion in the lungs and help prevent pneumonia. Dylan did not have a lot of bouts with pneumonia, and this could be a reason why (but it could also have contributed to more pneumonia due to the risk of aspiration).
Our decision to feed Dylan by mouth significantly impacted our lives and the time it took to care for him. It was quite common for us to spend 4-6 hours/day just feeding him. You will see much text devoted to feeding issues for children without a feeding tube in the Medical section of this site, because this is where our experience lies. We felt like this was the best decision for Dylan and our family. But again, this is an intensely personal and individual decision. We are not attempting to influence your decision in any way, only to provide our experience as a topic of conversation with your physician. We feel it is important to provide our experience, because when we were making our decision, we could not find anyone who had chosen to NOT insert a feeding tube.
C) Contact Hunters Hope www.huntershope.org.
Hunters Hope is the organization founded by Jim Kelly (NFL Hall of Famer) and his wife Jill. Their son Hunter had Krabbe disease and they have worked and continue to work tirelessly on funding for research to find a cure.
1) You should register your child on their Affected Family Registration.
2) You may also want to consider participating in Hunters Hope research projects, as explained at this link: http://www.huntershope.org/site/PageServer?pagename=hjkri_centerforkrabbedisease
There is a link to the “WWR Letter” on this page that explains the research being conducted and how access to your child’s tests can assist in further understanding of Krabbe disease.
3) Hunters Hope also has an equipment exchange program. We will address this topic in the Equipment section of this website.
4) In addition, Hunters Hope sponsors a “Family Symposium” where many of the Krabbe families get together in the summer in New York each year.
D) Krabbe Families Facebook Group: There is a Facebook Group called “Krabbe Families” (KFF), where people can post questions and others will respond. On Facebook, search for “Krabbe Families” to locate the group. Click the button “ask to join”. As always, realize that the responses you receive on the KFF are generally from other parents of Krabbe children and will represent their personal experiences.
E) Consider Setting up a CaringBridge.org webpage (http://caringbridge.org) : This is a wonderful website to communicate with family and friends. You can set up the website for free. This is an excellent and efficient way to communicate what is going on with your child and family to others who are interested. We highly recommend setting up a page on this site for your child. If nothing else, it will save you from having to answer the same question dozens of times, which can save you both valuable time and the grief associated with the conversations. You can then have those conversations on your own timing. Also, it provides a way for you to communicate what you need and how people can help you. See the section of this site on Coping With the Disease and Caring for the Rest of the Family for more ideas on support for your family.
F) Doctor/Hospital visits - Things to Consider:
1) Ask “why” – for example, hospitals often automatically put in an IV line in all incoming patients. Never feel bad about questioning why certain (especially painful) procedures are performed. You are your child’s best advocate. Doctors are trained to do their best to “heal” their patients. A child with a terminal disease is not going to be healed and the medical decisions you will want to make are focused on improving your child’s quality of life while here. The doctor is doing his or her JOB by treating your child. For you, this is your LIFE. And more importantly, the life of your child. Keep asking questions until you understand and feel comfortable proceeding with whatever the decision is. At times, doctors give the impression that they have “THE answer”, when often it is only their opinion, and many others may differ with their opinion. The important thing is for you to have NO REGRETS. Ask your questions and get all the information you need to make the decision you feel is best for your child.
2) Develop a medical notebook for your child. We found a 3 ring notebook was good for the most current items, and an expanding pendaflex (with handle) was good for all the less frequently needed items. Doctors will be handing you papers left and right. They will also be asking you questions about previous dates, test results and doctor visits. It will help you to have everything all in one place. You will want to always keep a current list of medications and dosages, as it can become very confusing.
G) Contact your local Hospice Care provider. This is a scary thought and action to take. However, the rules are different for children. Being under Hospice care does not necessarily mean that death is imminent (at least in Tennessee). Hospice has a totally different approach from your Pediatrician. Pediatricians want to “fix” things. Sadly, Krabbe isn’t currently “fixable”, so the approach is entirely different. Our Hospice group had a wealth of resources that were not available to us through our regular insurance, such as:
- IN HOME therapies (Occupational Therapy, Physical Therapy, etc),
- Medical equipment DELIVERED to us at home,
- Nurse and Doctor visits AT HOME,
- Medicine delivered to us AT HOME and
- Grief counseling for every member of the family.
H) Palliative care – what is it and is it right for your child?
As we mentioned before, there are options for your child’s care. In short, there are those that focus on aggressive medical treatment and there is palliative care – intervention for your child’s needs that provide ‘comfort care’ for his symptoms. Palliative care is described as “ways to care for your child that bring comfort to him and your family by stressing peace and dignity”. They are acts of non-invasive symptom control that positively affect the quality of life for him and your family.
Palliative care addresses the same issues that aggressive medical care does, but with strategies that are aimed toward reducing discomfort, not curing your child’s disease. Nutritional issues, elimination problems, skin care, respiratory challenges, secretion issues and pain management are all included in the ‘care comfort’ plan.
In the beginning, we did not make a conscious choice of palliative care. But that is where we ended up as we made small decisions along the way. We were certain that we wanted Dylan’s life to be spent at home with his family, without extensive time in hospitals. We also knew that we wanted his last moments to be at home, without being connected to tubes and machines. However, this is a very personal decision. Some people might find comfort in the care of professionals from the best hospital around. But, we wanted to be the ones providing the care to Dylan (with the help of our team), in our home. We wanted to relieve his pain and discomfort and allow him to participate in our lives to every extent possible.
There is a spectrum of care choices – on one end would be “aggressive medical intervention” while on the other end there is “palliative care”. There is no need to be firmly in one camp or the other. It is just important to realize the different perspectives, and decide for yourselves with each decision where you prefer to be. It is also extremely helpful to have someone that can help you navigate these decisions, someone who will be on the ship with you and your family throughout this new and uncharted voyage.
“Lifetimes are all the same; they all have a beginning, middle and an end, whether they last years or minutes…It is all about living in between, regardless of how long the life, how long the illness. There needs to be emphasis on the quality of that life and the integrity of that experience” [Medical Ethics Advisor, Sept 2002 v18 i9 p100(2)]
I) The “Captain of the Ship” issue: This means that someone needs to be your main resource for counsel. Someone needs to know everything that is going on with your child, who can also advise you. When you first receive the diagnosis, you might be heavily involved with a Genetics Doctor and/or a Neurologist. Typically, these relationships do not continue at length, so these doctors cannot likely be your Captain. It is also rare to find a doctor who has actually treated Krabbe Disease before.
We did not adequately resolve this issue. For a period of years, our Hospice Nurse was our main source. We tried to have it be our Hospice Doctor, but there was a lot of turnover with the hospice doctors and we found the consistency to be very important to us. It could not be our Pediatrician (that we used for our other children), because he no longer treated Dylan. This is not an issue that we can give you advice on, other than to say, be aware of the need and try to find someone who is involved on a weekly (or at least monthly) basis and knows all the details of your child’s care. It needs to be someone you trust and are able to reach easily for contact and questions.
J) Social Worker: One important resource for us during Dylan’s life was our community-based pediatric social worker (who we shall call Trisha). Trisha came into our lives through our local Early Intervention Program when Dylan’s initial developmental delays became a concern. She provided support for us as a family throughout Dylan’s life. She provided counseling, emotional support and a ‘safe place’ for us to work through our emotional challenges as individuals and as a family. She helped us figure out what our needs were and what resources were there to help. She held our hands, both literally and figuratively, for the entire time. She was our link to hospice in the beginning and the funeral home and cemetery at the end of our journey with Dylan. Trisha was our Rock, especially during the haze of the funeral process, right down to leading our family and friends in singing “Jesus Loves Me” at the cemetery. Trisha became a life-long friend and we pray that you too can have “a Trisha”.
K) Take Photos and Videos: We cannot over-emphasize this point. From this day forward, take as many photos and videos as possible. When Dylan was first diagnosed, we planned to take a photo (at least) every day of his life. As it turned out, he lived about 1,460 days after his diagnosis. We took way more photos than that, but not necessarily every day. You probably won’t have time to do anything with the photos, but you can do that later. However, you can NOT go back and take the photos in for the time you missed. The same goes with video. The photos of Dylan smiling and the videos of him laughing are some of our greatest treasures. As a final point, make sure you take a professional family photo. This is irreplaceable.