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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Do You Suggest For A Carrier Of Adrenoleukodystophy?

There is so much right now, I don t know where to begin. I am a carrier of Adrenoleukodystophy, and lost a son with it, and I was sure all my symptoms I had were a result of being a carrier of ALD. According to my geneticist, I have all the symptoms that most carriers get. I have numbness in both legs along with burning pain and a lot of sensory issues, tingling, etc., in both legs, and I never was a smoker. Just thought I d put that in there. I even talked to Jennifer Keller, a PT down at Kennedy Krieger Institute in Baltimore, where my DNA was sent, indicating I had the gene for X-ALD. She said all the symptoms I was having was from being the carrier, which is typical of all carriers, except for 7% maybe. Fortunately, I seem to have moderate symptoms. I went to a neurologist, and now he s telling me my symptoms are suggestive of lupus, since I had Raynauds on his clinical exam, so now I m going to see a rhematoidologist in about 3 weeks. Also, my white blood count is 2.7, so I might be seeing a hematologist. The cancer center is calling me tomorrow. I am going to see a urologist for incontinence, another symptom of X-ALD. Also, I have to see an endocrinologist for my thyroid and adrenal levels, too. The only med I was on was Estrace vaginal cream and now I m starting on Amitriptyline at hs for nerve pain. Again, thanks for asking. I guess I would like to talk to a hematologist and inquire about my WBCs and also my lymphocyte is low, too. It is 0.91. Is it something I should be concerned about? I try to take care of myself. I eat well and exercise, and I started PT 2 weeks ago to strengthen my core muscles and help with balance. All carriers have balance issues and fall easily.
Mon, 1 Sep 2014
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General & Family Physician 's  Response
Hi,

Thank you for writing to HCM,

Brief Answer -
Curative treatment , Symptomatic treatment , A multidisciplinary approach

Explained Answer -

I would like to suggest you below things -

1. Curative treatment -

Over the last decades many therapies have been tried in X-ALD.

Treatment with Lorenzo’s oil, ß-interferon, intravenous immunoglobulins, immunosuppression with cytostatic drugs, and plasma exchange so far have not been able to arrest or delay the disease progression once neurological symptoms are present.


So far, bone marrow or stem cell transplantation in boys with mild brain involvement is the only treatment that has been shown to be beneficial.

In men and women with AMN like symptoms however, bone marrow or stem cell transplantation should not be performed, as this aggressive treatment is directed against the brain inflammation, and not at the slowly progressive loss of function of the nerve cells in the spinal cord and peripheral nerves, which occurs in AMN and female carriers.

2. Symptomatic treatment -

Spasticity can be treated with drugs that reduce the muscle tone, such as baclofen (Kemstro ®), tizanidine (Zanaflex ®) and dantrolene (Dantrium ®). Alternatives for short-term use are benzodiazepines, such as diazepam (Valium ®) or clonazepam (Klonopin ®).

Many carriers experience lower back pain, or pain in the ankles, knees and hips, caused by the increased muscle tone in the legs and consequent abnormal walking.

Sometimes surgery may be considered. Knees and hips can be replaced, bladder surgery may help in coping with incontinence. It should be clear though that the underlying disease is not treated with these procedures, and that things may not get better.

3. A multidisciplinary approach -

Female carriers with neurological symptoms may benefit from a multidisciplinary approach.

The neurologist can treat some of the symptoms, but a symptomatic carrier should also consult a physical therapist, rehabilitation physician and urologist.

A specialized nurse who knows the ins and outs of X-ALD is invaluable.

If necessary, a psychologist or psychiatrist may be consulted, in order to cope with the disease itself, or the feeling of guilt that may overwhelm a carrier once it has been established that one of her children is affected.

Last but not least, the clinical geneticist should not be forgotten, as the mode of inheritance of X-ALD, the availability of prenatal testing, and the need for family screening must be discussed.

Its long enough i know but i have to write this for your define your query in detail.

Hope it will helpful to you.

Thanks & Ragards,
Dr. Gaurav Prajapati
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What Do You Suggest For A Carrier Of Adrenoleukodystophy?

Hi, Thank you for writing to HCM, Brief Answer - Curative treatment , Symptomatic treatment , A multidisciplinary approach Explained Answer - I would like to suggest you below things - 1. Curative treatment - Over the last decades many therapies have been tried in X-ALD. Treatment with Lorenzo’s oil, ß-interferon, intravenous immunoglobulins, immunosuppression with cytostatic drugs, and plasma exchange so far have not been able to arrest or delay the disease progression once neurological symptoms are present. So far, bone marrow or stem cell transplantation in boys with mild brain involvement is the only treatment that has been shown to be beneficial. In men and women with AMN like symptoms however, bone marrow or stem cell transplantation should not be performed, as this aggressive treatment is directed against the brain inflammation, and not at the slowly progressive loss of function of the nerve cells in the spinal cord and peripheral nerves, which occurs in AMN and female carriers. 2. Symptomatic treatment - Spasticity can be treated with drugs that reduce the muscle tone, such as baclofen (Kemstro ®), tizanidine (Zanaflex ®) and dantrolene (Dantrium ®). Alternatives for short-term use are benzodiazepines, such as diazepam (Valium ®) or clonazepam (Klonopin ®). Many carriers experience lower back pain, or pain in the ankles, knees and hips, caused by the increased muscle tone in the legs and consequent abnormal walking. Sometimes surgery may be considered. Knees and hips can be replaced, bladder surgery may help in coping with incontinence. It should be clear though that the underlying disease is not treated with these procedures, and that things may not get better. 3. A multidisciplinary approach - Female carriers with neurological symptoms may benefit from a multidisciplinary approach. The neurologist can treat some of the symptoms, but a symptomatic carrier should also consult a physical therapist, rehabilitation physician and urologist. A specialized nurse who knows the ins and outs of X-ALD is invaluable. If necessary, a psychologist or psychiatrist may be consulted, in order to cope with the disease itself, or the feeling of guilt that may overwhelm a carrier once it has been established that one of her children is affected. Last but not least, the clinical geneticist should not be forgotten, as the mode of inheritance of X-ALD, the availability of prenatal testing, and the need for family screening must be discussed. Its long enough i know but i have to write this for your define your query in detail. Hope it will helpful to you. Thanks & Ragards, Dr. Gaurav Prajapati