Welcome to our "Snuggle Sunday" Q & A series, where our blog authors respond to frequently asked questions and offer advice.
Editor’s Note: To date, we have not centered any articles around comments or letters received from our customers/subscribers. We receive a lot of feedback on Sundays compared to the rest of the week and we felt compelled to respond to this particular letter sent to us via snail mail.
We are keeping his name and address anonymous for privacy concerns.
Dear Le Snuggle,My wife and I recently learned that our grandson was diagnosed with ALD. We were told of the devastating diagnosis, but we know nothing about this disease and had never heard of it.
We have been reading some of your articles for a while, but I never thought I would write to you to ask for a favor. I am doing that now.
We find that you word things in a way that is easy for us to understand without having to have a medical background.
Would it be possible for you to explain this to us? Our main reason for asking is that we want to be able to support our grandson as well as the rest of our family with whatever is coming down the road hopefully, for a long time to come. We want to be able to recognize any changes occurring both positive or negative. We are also interested in knowing what is being done to research and find a cure for this disease. We want to help in any way that we can.
Also, what treatments are available at this point in time and, do they have side effects?
He is just a little boy, and the thought of him suffering is just almost too much for us to bear.
At our ages, we expect to have to deal with illness and doctor appointments, etc. We would both give anything to take on this battle rather than an innocent and perfect little boy. Our hearts are broken. We just do not know where to turn! We want to educate ourselves and develop a strategic plan moving forward. Not only for my wife and me, but to help our entire family handle this crisis. If you agree to write this article, we will forever be grateful."
I am so terribly sorry for you and your family. And, for your grandson and the path he is on. Since you did not mention the age of your grandson, I am assuming he is quite young.
Before I even begin with the information that I have put together for you, I want you to keep in mind that there are breakthroughs every, single day in the field of medical research and available treatments. I would urge you to subscribe and participate in as many resources as you can to stay informed throughout this process.
For our subscribers that are also curious, ALD stands for Adrenoleukodystrophy. ALD is a rare genetic disease that you are born with. This disease is more common in males than females. Approximately 1 in 18,000 people are affected by this disease. This is a genetic brain disease in which the myelin (the protective sheath) of the brain that allows us to think and control our muscles is destroyed.
I was extremely happy to see that there are several organizations working toward research and trying to find better treatment methods for those suffering with ALD. I was also happy to find numerous resources for families coping with this disease.
As I was reviewing all of the research I put together for you, I realized that in all of the health care awareness months/days that we cover, I did not have a day or month on any of my lists for ALD.
September is Leukodystrophy Awareness Month. This is exactly why I devote so much of our blog time to spreading awareness. This disease needs to become a topic that is discussed frequently. Particularly, if you are pregnant or, planning to become pregnant. Early detection with this disease is of vital importance.
Because I want to continue spreading awareness for this condition, we are scheduling this article to reprint in September as well. We encourage our readers to wear navy blue for awareness, as well as tying navy blue ribbons to trees and vehicle antennas. Great idea to spark a conversation and spread awareness.
Of all of the resources, I found to assist you, I found Be The Match the most informative and comprehensive. The advocacy provided by this organization is unsurpassed.
I reached out to them requesting permission to use their explanatory article about ALD to write this one. They immediately replied and graciously granted their permission.
According to BE The Match:
"This is a progressive disease. There are mainly two forms of ALD, and they are as follows:
The most severe type of ALD is the childhood cerebral form. Many times, behavioral changes mimicking ADHD are noticed and misdiagnosis often occurs. The earlier the diagnosis, the better the chances are of slowing damage.
Generally, this form of the disease affects boys between 5 and 8 years of age. Several other symptoms include muscle cramps, difficulty walking, swallowing, hearing loss, seizures and other symptoms.
The second type of ALD is Adrenomyelopathy (AMN). This type is less severe, and usually begins between the ages of 21 and 35. This type has stiffness and weakness that worsens and affects the ability to walk.
There are no treatments available to reverse any damage caused by this progressive disease. Further, there are limited treatments available to those suffering from this debilitating and rare disease. "
One of the treatments utilized for ALD is BMT (bone marrow transplant). This is where an organization like BE The Match is invaluable. Their coordination with the National Marrow Donor Program and their own Be The Match Registry is a safe place to contact to participate in promoting awareness, as well as doing your part to help find a cure for this terrible disease.
You and your family may have been unaware of a genetic predisposition to this disease. Also, because this disease can show symptoms similar to autism, epilepsy, ADHD and other learning disabilities, the need to know your family health history is crucial. Again, early diagnosis and immediate treatment is necessary to stop further damage from ALD.
We wrote about the importance of knowing your family health history in the past that you can check out in our article: Happy Thanksgiving and National Family History Day!
The sooner a transplant is performed, the better the chances of living with this disease for a longer period of time. The advocacy and support provided to families by BE THE MATCH is a lifeline I urge you to associate with immediately.
Because I do not have the benefit of clinical data regarding your grandson, it is my hope that you and your family have put together a care team already. Immediate action is necessary to provide the best possible treatment IN A TIMELY FASHION that your grandson needs for his quality of life.
I know the thought of your grandson having to have a bone marrow transplant is daunting. Until you meet with your care team and discuss the pros and cons of whether or not your grandson is a transplant candidate and discussing the potential side effects, you need to be as supportive as possible while also learning as much as you can about various treatments available.
Your care team will walk you through the process of deciding the best course of treatment for your grandson, as well as the impact that such treatments will have on your lives. Start a journal. Record everything. Ask questions. Ask for a second opinion if that is something you feel you need to explore.
MRI is frequently used by specialized radiologists to determine the progression of ALD.
It is also a hard thing to discuss this type of devastating illness with a child. How much to tell him? How much do we let him help with decisions? How do we support him? A million questions, and no definite right or wrong answer.
I currently have a friend that is going through chemotherapy for a return of breast cancer, now accompanied by advanced bone cancer.
The one thing that bothers her the most, is that people do not know how to talk to her anymore. She does not want people to treat her differently because she is sick. She chooses to be around me because I never stop picking on her or joking with her. She tells me that I am the only person in her life that treats her “normal”. I would highly recommend doing all of the same things you usually do with your “little buddy”, even if altered somewhat due to treatment.
BE THE MATCH also provides valuable information about planning for transplant, if your grandson is determined to be a viable candidate. Offer to get tested. Reach out to every person you know. Increase their awareness, ask for help and actively participate in the process. You and your wife will surprise yourselves with the level of your motivation you have to participate in this process.
Insurance and financial concerns are often a factor. Do your research. Find out how to help in a REAL way. Start with BE THE MATCH. Utilize social media and family reaching out to help your grandson on his journey. Every little effort makes a difference. If a fundraiser becomes necessary to help defray costs, this is also something that you and your wife can coordinate within your community.
You have to understand that treatment can last weeks to months. Recovery from treatment can last even longer. I know that you both are in for the long haul however; you need to keep awareness front and center throughout this process.
Just like with various cancer diagnoses, fighters refuse to quit and beat the odds regularly. Attitude is simply everything. No negativity allowed.
I absolutely refuse to discuss the prognosis for ALD patients, as each patient’s case is individual, neurologically affecting different parts of the body.
I am a firm believer in the rate that medicine is advancing, and the new cures previously believed unattainable happening every, single day.
Hold on to your family, your faith, and the team your family has chosen to accompany you on this journey.
I truly wish you and your family all the best. I hope that you will contact me again with a progress report.
Be sure to review the patient experience videos on Be the Match website. I hope they will help comfort you and your wife.