Family Support
Bone Marrow Registry
For patients diagnosed with ALD, leukemia, lymphoma and other life-threatening diseases, a bone marrow or cord blood transplant may be their best or only hope for a cure. Yet 70% of patients who need a transplant to do not have a matching donor in their family. They depend on Be The Match® and their supporters to find a match to save their life. Be the Match also provide one-on-one support to patients and their families throughout the transplant journey. Through the bone marrow drives we have had for Aidan, there have been 3 perfect matches which have helped people suffering from various forms of cancer. A simple swab of the inside of your cheek enlists you in the bone marrow registry.
Please join the registry to be able to save a life!
For patients diagnosed with ALD, leukemia, lymphoma and other life-threatening diseases, a bone marrow or cord blood transplant may be their best or only hope for a cure. Yet 70% of patients who need a transplant to do not have a matching donor in their family. They depend on Be The Match® and their supporters to find a match to save their life. Be the Match also provide one-on-one support to patients and their families throughout the transplant journey. Through the bone marrow drives we have had for Aidan, there have been 3 perfect matches which have helped people suffering from various forms of cancer. A simple swab of the inside of your cheek enlists you in the bone marrow registry.
Please join the registry to be able to save a life!
Financial Support
Aidan’s Gifts helps families who face extreme financial stress attributed to the costs associated with caring for a child with ALD or another Leukodystrophy.
Requests are granted on a case-by-case basis and are limited to meeting needs that will enable an affected family to provide the best possible care for their child.
Many times families come to the Foundation for assistance with a unique need – travel expenses associated with treatment, a wheelchair lift to enable a family to safely travel with their child or assistance in purchasing a vehicle to accommodate their child’s equipment needs. These are only a few examples of ways Aidan’s Gifts have helped our families focus on what matters most – caring for their child!
For more information on Aidan’s Gifts, please contact: Elisa Seeger info@AidanJackSeegerFoundation.org.
Aidan’s Gifts helps families who face extreme financial stress attributed to the costs associated with caring for a child with ALD or another Leukodystrophy.
Requests are granted on a case-by-case basis and are limited to meeting needs that will enable an affected family to provide the best possible care for their child.
Many times families come to the Foundation for assistance with a unique need – travel expenses associated with treatment, a wheelchair lift to enable a family to safely travel with their child or assistance in purchasing a vehicle to accommodate their child’s equipment needs. These are only a few examples of ways Aidan’s Gifts have helped our families focus on what matters most – caring for their child!
For more information on Aidan’s Gifts, please contact: Elisa Seeger info@AidanJackSeegerFoundation.org.
ALD Physicians
Joanne Kurtzberg, MD,
Paul Orchard, MD
Gerald Raymond, MD
Joanne Kurtzberg, MD,
- Chief Scientific Officer, Robertson Clinical and Translational Cell Therapy Program, Duke University Medical Center Co-Director, Stem Cell Laboratory Director, Carolinas Cord Blood Bank
- Click here to contact Dr. Kurtzberg
Paul Orchard, MD
- Associate Professor, Division of Blood and Bone Marrow Transplantation,
- University of Minnesota
- Click here to contact Dr. Orchard
Gerald Raymond, MD
- Pediatric Neurologist, Specializing in ALD
- University of Minnesota
- Click here to contact Dr. Raymond
Getting Tested for ALD or AMN
A minimum of 3 ml whole blood should be collected in a lavender (EDTA) tube. Results are most reliable when a fasting sample is tested. Ideally, the patient should not eat or drink 8 hours prior to blood collection. Note that drinking water is fine and will not interfere with results. The sample should be maintained at room temperature and not subjected to extremes of either heat or cold. Sample should be shipped via overnight mail, such as FedEx, and insulated as necessary. The requisition form may be downloaded at: http://genetics.kennedykrieger.org/forms/pero1.pdf Results are available within 7 to 10 days, unless there are special circumstances.
Contact information related to testing:
Kennedy Krieger Institute Genetics Laboratory – Peroxisomal Diseases Section
A minimum of 3 ml whole blood should be collected in a lavender (EDTA) tube. Results are most reliable when a fasting sample is tested. Ideally, the patient should not eat or drink 8 hours prior to blood collection. Note that drinking water is fine and will not interfere with results. The sample should be maintained at room temperature and not subjected to extremes of either heat or cold. Sample should be shipped via overnight mail, such as FedEx, and insulated as necessary. The requisition form may be downloaded at: http://genetics.kennedykrieger.org/forms/pero1.pdf Results are available within 7 to 10 days, unless there are special circumstances.
Contact information related to testing:
Kennedy Krieger Institute Genetics Laboratory – Peroxisomal Diseases Section
- 707 North Broadway
Baltimore, MD 21205 USA - Phone: 1.443.923.2760
- Fax: 1.443.923.2755
A child in our family was just diagnosed with ALD, what are the first things we should do?
- Get a magnetic resonance imaging (MRI) scan of the child’s brain. This will tell you the extent of the progression of the disease, and determine next steps. It will also provide a baseline for you and physicians to use to compare with future MRI scans, which are generally performed at 6 month intervals.
- Have your child tested for adrenal insufficiency (Addison’s disease). The test for adrenal insufficiency is done by a pediatric endocrinologist. Addison’s disease is generally associated with ALD. The adrenal glands produce a variety of hormones that control levels of sugar, sodium, and potassium in the body, and help it respond to stress. In Addison’s disease, the body produces insufficient levels of the adrenal hormone, which can be life-threatening. Fortunately, this aspect of ALD is easily treated, simply by taking a steroid pill daily (and adjusting the dose in times of stress or illness).
- Consider limiting your child’s fat intake to no more than 30% of his daily diet. This is easily done by limiting red meats and using low-fat substitutes for things like milk and butter.
- If your child already has symptoms, the approved treatment for ALD is a stem cell transplant, using either stem cells derived from bone marrow or from umbilical cord blood (UCB). If done early enough, this treatment has been found to stop the neural degeneration. However, both types of transplantation are risky procedures that can also be life-threatening. Research shows that this treatment has its best chance of success when the child has no more than one diagnosed neurological deficits, and a Loes score of 9 or lower.
- A clinical trial for Gene Therapy is currently being administered through Bluebird Bio. Though currently under the early stages, Gene Therapy is thought to be a safer method of treatment, as the child’s own cells are being used, so no need to find a match in the bone marrow registry and no chance of rejection or the use of anti-rejection medications. For more information please go to: http://clinicaltrials.gov/ct2/show/NCT01896102?term=ALD&rank=15
Our newborn son has just been diagnosed with ALD, what do we do and what should my pediatrician know?
- Your baby should start getting his MRI, by the age of 1, to establish a baseline. MRI’s should continue to be taken every 6 months.
- It is EXTREMELY important to have these MRI’s reviewed by an ALD specialist. Unfortunately, because ALD is a rare disease, the local neurologist may not have enough experience to notice the slight changes to an ALD patient’s MRI and ALD patients do not have the time for misdiagnosis. Six months can be the difference between life or death.
Please contact Dr. Gerald Raymond Pediatric Neurologist, Specializing in ALD for a 2nd opinion on your MRI. Click here to contact Dr. Raymond. - Babies should have ACTH and Cortisol checked every 3 months from 3 months of age on. If adrenal insufficiency is diagnosed, it should be managed with a daily steroid and a stress dose whenever needed.
- Starting at 2 years of age the baby should have an annual workup; including, ophthalmologic exam and visual fields.
What is a Loes score?
The Loes score is a rating of the severity of abnormalities in the brain found on MRI. It ranges from 0 to 34, based on a point system derived from the location and extent of disease and the presence of atrophy in the brain, either localized to specific points or generally throughout the brain. A Loes score of 0.5 or less is classified as normal, while a Loes score of 14 or greater is considered severe.
It was developed by neuroradiologist Daniel J. Loes of the University of Minnesota, and is an important tool in assessing disease progression and the effectiveness of therapy. For example, even if your child shows no noticeable symptoms, if the Loes score deteriorates by more than one scale point with each six-month MRI exam, some specialists will recommend that you consider a stem cell transplant or gene therapy.
Please see a physician with extensive ALD experience who will be the best qualified healthcare provider to determine the Loes scale.
Suggestions:
Joanne Kurtzberg, MD,
Paul Orchard, MD
Gerald Raymond, MD
Maria Luisa Escolar, MD, MS
Florian Eichler, MD
The Loes score is a rating of the severity of abnormalities in the brain found on MRI. It ranges from 0 to 34, based on a point system derived from the location and extent of disease and the presence of atrophy in the brain, either localized to specific points or generally throughout the brain. A Loes score of 0.5 or less is classified as normal, while a Loes score of 14 or greater is considered severe.
It was developed by neuroradiologist Daniel J. Loes of the University of Minnesota, and is an important tool in assessing disease progression and the effectiveness of therapy. For example, even if your child shows no noticeable symptoms, if the Loes score deteriorates by more than one scale point with each six-month MRI exam, some specialists will recommend that you consider a stem cell transplant or gene therapy.
Please see a physician with extensive ALD experience who will be the best qualified healthcare provider to determine the Loes scale.
Suggestions:
Joanne Kurtzberg, MD,
- Chief Scientific Officer, Robertson Clinical and Translational Cell Therapy Program, Duke University Medical Center Co-Director, Stem Cell Laboratory Director, Carolinas Cord Blood Bank
- Click here to contact Dr. Kurtzberg
Paul Orchard, MD
- Associate Professor, Division of Blood and Bone Marrow Transplantation,
- University of Minnesota
- Click here to contact Dr. Orchard
Gerald Raymond, MD
- Pediatric Neurologist, Specializing in ALD
- University of Minnesota
- Click here to contact Dr. Raymond
Maria Luisa Escolar, MD, MS
- Director, Program for the Study of Neurodevelopment in Rare Disorders Associate Professor, Pediatrics, University of Pittsburgh School of Medicine
- Click here to contact Dr. Escolar
Florian Eichler, MD
- Director of Leukodystrophy Service at Massachusetts General Hospital
- Click here to contact Dr. Eichler
Back to: What is ALD?