Adult-onset MLD
THE NEXT STEPS
We would like to extend a warm welcome to those families traveling the same road many of us throughout the world are traveling - the diagnosis of yourself or your older child- with adult -onset MLD. As you know the adult form is the rarest form but it is also the slowest progressing. Most of you have probably never heard of this disease. You are not alone. This is the case with most of us. We know you are feeling many emotions – maybe relief because you finally know what is wrong, yet fearful because you haven’t been given much hope or the doctors in your hometown don’t really know how to treat MLD.
We are sure you are wondering what to do next and it all seems overwhelming. Know that we understand. We are going to help you through the next steps. We will share with you what we have studied, researched and learned over the years to be the most helpful in moving forward.If you are the one affected with MLD we understand it is hard to remember and concentrate on so many details, so it is important to ask someone to help you through the next steps. If you are a parent of an older or adult child that has been diagnosed, then it is also important to know they cannot process information in the same way as you or understand and remember easily. They will need your help.
One thing to keep in mind is that there are doctors who are continuing to look for a cure. Right now there are few options for adults, with bone marrow transplant being the best option, though risky. It has been successful in some cases to slow or stop the progression. This is an option that needs much consultation and involves several medical tests to determine if you or your older child is a candidate. This can take months, including time to find the best and right donor. If this is an option you are considering, time can be of the essence, so we suggest you check our resource section for clinics or doctors that do transplants for adult –onset MLD. Don’t rule out children’s hospitals who have doctors who treat adults with this disease. Call and make an appointment for a consultation to know if this is an option for you.
Where to begin:
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Sit down with your doctor and make sure all the correct testing has been done to diagnose Adult-onset MLD and have the results explained to you. This includes the following:
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*Blood test -showing Arylsulfatase A deficiency
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*Urine test -detecting presence of excess sulfatides
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Begin a calendar for appointments and a place to write notes and questions. Also purchase a multi-pocket file folder that you can carry with you. This will allow you to have everything in one place, insurance, all paperwork, medical reports, notes, calendar, medication list and even a CD of the MRI. This helps to have everything organized and have what is needed by various doctors readily available, and eases appointments.
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Talk with your doctor as to their knowledge of the disease -what can they offer In the way of treatment, including possible bone marrow transplant; If they have no current knowledge of MLD, or how to treat it and/or say nothing can be done, then it is important to consult with a doctor who does know and understands MLD (see our resource list). Again, please keep in mind that children’s hospitals have doctors who treat adults.
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Arrange for the same blood testing of your other children to determine if they are carriers or could possibly also be affected. It is best to do this through the same lab. (See our resource list for Dr. Wenger’s contact information who can provide local labs with the right information for the blood draw needed. It can even be sent to his lab)
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If your child affected with MLD is 18 or older, they must sign a form with every doctor and hospital that will give you permission to be the contact and receive medical information. This is especially important due to memory issues and being able to find the right words to explain symptoms or changes. If you are the affected adult, make sure you sign this form and have your parent, spouse or another family member or friend be that designated person to help you. If you are not offered this form, do ask for it so it is already available when needed. Some doctors and hospitals want this updated yearly.
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It is important to also make an appointment with your primary care physician, sharing the diagnosis, and always have a copy of medical testing sent there as well, as your primary can help with monitoring or other illnesses or complications that may occur. It is not uncommon for MLD patients to have gall bladder issues as the gallbladder can accumulate high levels of sulfatides causing gallstones or polyps. Your primary can be on the alert for this.
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Another important person is the dentist. Some MLD patients are known to have soft teeth which can lead to earlier decay. Also because of memory and concentration issues brushing and oral health care may not be the best. Gum disease can lead to other physical complications so more frequent cleanings by the dentist may be needed.
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Make an appointment with your or your child’s therapist – if on medications for any suspected mental illnesses(adult-onset MLD patients are often misdiagnosed due to cognitive symptoms) it is important to not stop taking the medication, as abruptly stopping could cause other complications. Continue taking the prescribed medications until your MLD doctor determines if it could be helpful. If not, your therapist will recommend how to decrease dosage and stop.
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Maintain a relationship with your therapist or psychiatrist. They can help you or child through the process of understanding their illness and be a support to you and your family. They can help determine emotional readiness for a transplant. They now know what has caused the cognitive changes they were treating and how to help accept the road ahead.
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If your adult child that is affected has children, they too will need help and support. Your therapist and/or a school counselor can be very helpful. They will also need to understand (when they are of an appropriate age) that they are a carrier, as the affected adult only has the MLD gene to pass on to their child. A carrier has a 50% chance of passing this gene on to their offspring. At some point when they are considering having children of their own, genetic counseling is recommended.
Helpful things to do:
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Build a support system- draw your family together and close friends together. Let them know the next steps you must take. They will now more clearly understand some of the difficulties that you or your older child may have experienced and they may have shared with you, due to the cognitive difficulties.If a candidate for a transplant, help them understand why the decision to have or not have a transplant was reached. They will want to help. Accept their help and support.Patience, love, and understanding from your families and close friends is so important.
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It is also important to think about arranging to become your older child’s medical power of attorney, so you can make medical decisions for them if it becomes necessary.
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Talk to your employer- and let them know you may need to apply for a temporary leave under the FMLA (Family Medical Leave ACT). You are not paid for this leave but it does guarantee you your position back if you return within 12 weeks. Many companies offer paid leave or allow you to use your accumulated paid time off(PTO) to care for a sick family member. This can be in addition to your FMLA. If you are the one affected you may be able to use your short-term and long term disability benefits. Meet with your benefits administrator to be sure you maximize all options.
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Because cognitive functions are impaired a medical alert bracelet can let a stranger know why you or your older child might not be able to explain themselves in a given situation. For example, if there is a car accident and they are taken to a hospital, this would alert the staff to explore what medical concerns there are associated with adult –onset MLD and not treat you for something unnecessarily.
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You may notice that on an outing or in a group situation you or your older child may become distracted, lose track of surroundings and get separated from who you are with. A phone app like“Life 360: Find Family & Friends”, or “Find my Friends” or other phone tracking device will help your loved ones always know where you are and get directions to your location. This can bring peace of mind to you and your loved ones.
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Driving may become difficult or unsafe due to lack of focus or concentration coupled with distractions that adult-onset MLD creates in the brain. It may be harder to make a logical spur of the moment decision as MLD progresses. This can cause fender benders or more serious accidents. Discuss with your MLD doctor and loved ones if driving is still safe.
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Finances and money management also will become more difficult due to the progression of MLD. You or your loved one may need help to not overspend (tipping in a restaurant) and to pay bills on time. If you are the parent and you are not on your adult child’s checking or savings account, make sure they understand, you will need to go to the banking institution with them, and have your name added. If you are the one with MLD, have someone you trust help you with your bills and other financial issues. This can be especially helpful when medical bills arrive to be sure your insurance has paid its part before you make arrangements to pay the rest of the bill. Do not feel worried by the medical bills that will come in, your doctors and hospitals will work with you on an affordable payment plan..
School:
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If your child is in high school or college it is best for them to stay in school as long as possible. Make an appointment with the principal or college advisor to help them understand MLD and the changes your child is going through. Let them know you are learning too and you will keep them informed of all necessary information as well as times school will be missed due to doctor appointments or testing. Your child may have excessive absences. Homework and classwork expectations will need to be modified. Peer mentors or para educators may need to be available to help. Most schools have counselors - not only family but social counselors as well and an inclusive education program and coordinator who can help teachers with strategies and students with socialization. Also if hospitalized for any length of time, hospitals have tutors who can help.
Working:
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MLD is considered a disabling disease. If you or your older child cannot continue to do a job you have done for years due to the effects of MLD, you can apply for Social Security Disability. The diagnosing doctor can give you a letter stating MLD is a disabling disease. You can take this letter with you to the social security office. Be sure to ask your doctor for this letter. You will have to provide supporting medical documents during the process but your doctor’s office or you can fax or email them directly to the social security office. If you qualify, you will receive the amount of the disability benefit retroactive to when the decision was made that you could no longer perform the job successfully. Social security will check annually for the first three years to be sure you still qualify for disability. If you were supporting a child, your child can receive an SSI benefit until they turn 18. After age 18, the child with MLD can apply for SSI if they are no longer claimed as a dependent on your taxes.
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At some point you or your older child may be able to return to a work environment where you can be successful. Your MLD doctor and therapist can help determine readiness. Social Security allows you to work part-time and still receive disability payments. You are required to let them know you are working and how much you may be making. They will tell you the maximum you can earn without hurting your social security disability benefit. You are entitled to a benefits counselor who can help you navigate services.
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You or your older child may require the assistance of a job coach to help you successfully learn new skills and work in an environment of acceptance of your disability. Social Security can recommend the main organization to contact in your community. Easter Seals and Goodwill in the U.S., are companies that work with these organizations to get to know you, understand your interest and skill level, help with placement and the right job coach. The job coach’s responsibility is to help the employer know and understand any limitations you may have; help you learn the skills; work with you till you are confident you can do it alone; then help you remain independent at your new position. If the first work place isn’t right for you, do not be discouraged. It sometimes takes more than one try to find the right fit. Most cities in the U.S. also have a very inexpensive transportation program you an access to help get you to appointments or work, if needed.
Insurance:
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What is often overlooked, is that many companies offer disability insurance as part of an employee’s benefit package. Most often this includes an illness that has created a disability in which you can no longer perform the necessary skillsof your job and earn the income you depend on. An employer’s disability policy often has a higher monthly payment than what you would receive from social security.If you become disabled while still employed,you can receive a partial payment from your employer’s disability insurance company and your SSD payment. So be sure and ask about this when you check into employee benefits.
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If a life insurance benefit is offered through your company, continue that insurance when you leave your employment by making the payment on your own. It is difficult to get anew life insurance policy with a disabling disease. However you can keep an existing one, even if your employer was paying it as one of your benefits. If there has been a few months’ lapse (since you were not aware of this option), check with the insurance company directly.Often they will let you pay the lapsed amount and continue the policy.
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If health insurance, in the U.S., is carried through the place of employment,be sure to continue it through the company’s Cobra plan. Pre-existing conditions often aren’t immediately covered under a new insurance plan. Most insurance companies you have been with, will allow you to continue Cobra past the normal time limit -up to 18 months. There are government healthcare plans as well to fill any time gaps between the time you can no longer use the Cobra benefit and the eligibility for Medicare. After 2 years of being disabled, you or your older child can then move to Medicare part A and B.You will receive information about this in the mail so it is good to have someone help you with all the details. Since Medicare requires a supplement, often your former insurance company will have a supplement to offer and it makes for a smooth transition and getting your medical expenses covered. Medicaid can be another option. Blue Cross and Blue Shield is one of the insurance carriers that offers a patient advocate free of charge to their clients to help them navigate the system through their first year of disability.
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If you took out an optional long –term care policy, offered through your work, keep that policy as well by making the monthly payment.
Is Bone Marrow Transplantation An Option?
We know there are many doctors and research scientists who are exploring procedures to slow down or stop the progression of MLD. Many are in trials such as gene or enzyme replacement therapy in many parts of the world. The one known option for the adult form that has had some success is Bone Marrow Transplantation.
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Unfortunately not everyone affected with the adult form is a candidate which is why if this is an option you are considering you need to make an appointment immediately with an expert in this field. They will know the important factors needed in a donor to slow or stop the MLD progression (see our resource list for recommendations).
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The less progressed the disease the better the chances for success as the transplant cannot reverse the cognitive damage already done. Some doctors may tell you it’s too late if you are showing mild physical symptoms such as a hand tremor or uncontrolled minor mouth movements. This is not always true.
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The doctors who specialize in treating this rare disease can do the necessary testing to determine if the MLD is progressing slow enough to warrant a window of time for finding a donor and a transplant. This usually involves a spinal tap and other testing.
Making the Decision:
If it is found that you or your older child are a candidate for a bone marrow transplant then the final decision is more than just saying yes or no.
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Learn everything about the transplant process, including the time frame, possible side effects,the hospital stay and what life may be like before, during or after the transplant.
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Learn the expected progression of this illness, if you choose not to transplant.
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Talk to your family especially if you have children and to the people you have trusted to receive medical information
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Talk to other families that have chosen or not chosen transplant. Your doctor may be able to provide you with names of patients and their families and contact information, who have agreed to share their experience. We can also help you network with families through this site. You may want to also talk with your spiritual advisor if you have one.
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Talk to your therapist to discuss the pros and cons. If you are 18 or older you may or may not want a transplant and your family or children may feel differently. Your therapist knows the cognitive difficulties you have been experiencing and can recommend to your family that this is a decision you are still able to make for yourself or can help you understand their point of view.
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Because finding a donor takes time, you can have your name placed on the transplant list so a donor search can begin even if you haven’t made a final decision. You can always change your mind. If one or more donors on the registry are found, they will need to agree to current testing and agree to be your donor.
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Family members and relatives can be tested to see if they are a candidate for be a donor.
Therapy - Cognitive and Physical
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Your MLD doctor can recommend physical or cognitive therapy. If they do not, ask about having that opportunity.
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Keeping physically active is important for muscle atrophy and keeps your brain working as well as it is able.
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Cognitive therapy can benefit memory skills. Repetition can help turn a short term act into a long term memory action.
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A therapist that combines both cognitive and physical therapy provides the best experience.
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If transplant is successful, this therapy can be beneficial when your doctor feels it is the best time. With the right therapy, some brain connections can be rerouted or rebuilt.
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Therapy may be covered by your insurance if it is prescribed by your doctor.
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Other options to consider are a personal trainer, a gym membership, pool therapy or horseback riding (check for any therapeutic riding programs that may be available.
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Anything you can do to help yourself or your older child to stay physically active and to practice memory skills is so important. Memory skills can be a simple match game with playing cards.
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The “Socratic Method” is suggested by some therapists - not giving the answer when you or your childdoesn’t remember - instead answer them with a question or a series of questions. By askinga series of leading questions you can help the person with MLD remember the answer on their own.
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Social isolation is a concern for someone with the adult form of this disease. Family & friend time becomes extremely important. You or your loved one may experience transitional thinking and speaking or interrupt conversations – this can make it hard for others to remain engaged or involved. You may need to explain your disease process to people to help with an understanding of behavior that would be unexpected. Social outings or gatherings are very important. Getting involved in volunteer work, or spiritual groups may be places that accept your changes in behavior the best.
Planing for Long Term Care:
Because Adult –onset MLD is slow progressing, and you have an older child with this disease it is possible that they will outlive you, especially if they have a successful transplant. Even if you are the one with this illness, eventually either way, you or your child may need long term care. Now is a good time to look at ways to finance it.
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Set up a Trust- if you or your older child are receiving disability benefits any significant amount of money you directly inherit can stop your benefits. If you have a trust set up for any inherited money to be paid into, then it will not stop the SSD benefits.
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As the parent of an older child with MLD receiving SSD, you will not be able to name them as a beneficiary to your life insurance or any other monies you may want them to inherit. However, you can name a Trust fund as the beneficiary which will need to be set up through an attorney. This would be the case for grandparents or any other relatives wanting to leave monies to help you or your child.
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If you are the one affected, a spouse, parent or relative can do this for you.
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A Trust can be designated for care. You or your adult child will need to choose someone that they are comfortable with to make medical and care decisions, to become their Executor if the parents are deceased. Some attorneys in the U.S. suggest two Executors of different ages.
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Prudential Life Insurance has a special policy for parents who have a disabled child. It is called “Second to die”. It is a minimum of $250,000, at a reasonable monthly rate and only pays into the trust of a disabled child, even an adult child, when both insured parents are deceased. This can provide the long term care that may be needed down the road. If there is money not used when the disabled child passes, it can be passed to the next beneficiaries on your list, even if they do not have a disability.
We know we have provided you a lot of information. We hope we have helped you to know how to take the next steps to be prepared for the journey and more easily prepare for challenges you may face or decisions to make. Your path will be unique to you and your doctor will lead you to do what is best for you or your older child. Remember you are not alone. So many doctors are working every day to find the cure. We care about you and your loved ones. This community is here for you to help you navigate, or vent or allow you to share. There is HOPE!
Greg Bennett talks about his diagnosis with MLD
Greg Bennett and his story with MLD
Greg was diagnosed with MLD at age 17. At the time, his family was told he would be paralyzed in two years and dead in five. It’s been more than five years and Greg says he has “outlived my expiration date and I’m not even moldy”!
He will be 23 on June 18!
Greg likes to raise awareness for MLD and has given speeches to medical, nursing and psychiatry students and even the local elementary school. Greg has the late juvenile form of this disease.
His symptoms include visual and auditory hallucinations, staring and difficulty managing social interaction. He had severe periods of mania and takes a mood stabilizer now. He has tremors in his hands, difficulty with walking, shaking and stiffness in his legs (clonus - he recently had a Baclofen pump implanted). Some early symptoms he had were a difficulty with buttons and getting his feet up to tie his shoes. He showed a decline in reading comprehension and math skills. He has also had his gallbladder removed.
Greg’s treatment plan has been vigorous physical therapy to maintain and increase his strength and mobility. He also did occupational and speech therapy for a while. He makes bracelets to help raise awareness for MLD and the repetition of stringing beads helps manage his hand tremors dramatically. Insurance would not provide skilled therapy after a period of time so we had to get creative and use a personal trainer and aqua therapy.
Greg also works with a psychologist a couple times a month to help him deal with his prognosis and to help establish goals to focus on living. Greg has been involved in a number of volunteer opportunities: working at a senior center in the kitchen and garden, taking food to the homeless, working in a soup kitchen, working at the front desk at the local hospital. He has had a few jobs but that has proven difficult with lack of focus and endurance. He is currently employed at a local Home and Garden center. Greg loves plants and this job has allowed him the freedom to pursue that passion. Greg rides horses in a therapeutic riding program which has helped strengthen his core and fueled his love of horses.
Despite his challenges, Greg remains strong in his faith and has a great sense of humor and humility. Greg likes to quote Winston Churchill: "Never, never, never give up." Greg wants to raise awareness and funds for research for his disease with the hopes that the scientific community will take notice. Watch this video featuring Greg in the Baltimore Sun.
Kris Omecene and her story with MLD
As a young girl, Kris was very social, competitive, curious, and athletic. But something changed as she entered her senior year of high school. She skipped school, lost friends and athletic ability, and her grades dropped. Mental health professionals diagnosed her with depression, and as the years went on, with psychosis, alcoholism, and other mental health illnesses. Later on, Kris’ mother, Mary, would find out this was actually the “onset” point of her MLD.
For 15 years, Kris struggled and was misdiagnosed. When symptoms progressed rapidly in her early 30s, a brain tumor was suspected. She was sent for diagnostic testing. Finally, an MRI came back with signs of MLD, and blood and urine tests confirmed it. At age 33, Kris was diagnosed with the adult form of metachromatic leukodystrophy.
The following year, Kris had a bone marrow transplant. Since then, her MRIs haven’t displayed advancement of her MLD. She still has short-term memory issues, mild weakness, and spatial problems, but therapies each week are helping. At the age of 40, she currently enjoys working at a local bakery. And her home life is full with being a mom to her teenage son, playing with two dogs, and enjoying family gatherings.
“Learning my new normal; hoping to help others like me!” - Kris
These days, whenever Kris goes back to the hospital for check-ups, she brings gifts for children to pick out after treatment. She and her family hope to raise awareness of adult-onset MLD to prevent years of misdiagnosis and expedite appropriate medical care.
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