General Information on DM1

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This is a diagram or the major effects of Myotonic Dystrophy on the Human. Click to enlarge

The Blog. You’ve reached this site as you may be the one of nearly one million people affected by Myotonic Dystrophy  Worldwide. This site aggregates and publishes all information on Myotonic Dystrophy Myotonic Dystrophy is a disease that is genetically based and inherited from one generation to the next. One out of two children of a person  with myotonic dystrophy will most likely have  the disease. Unlike most diseases, the symptoms that a person with this disease varies from person to person. Some people are just mildly affected others are severely affected. This makes it hard to tell you exactly how the disease will affect a particular person.

Four treatments that have potential have now surfaced about Myotonic Dystrophy. These are three approved Drugs by FDA and “off label use” may assist some people with DM1. (As always check with your Doctor) . The other is a drug that is not FDA approved in the USA for human use. Three off label uses have showed promise in mice studies but as yet there is no human data… In January of 2017 Ionis Pharmaceuticals stopped the trials of its DMPK-2.5Rx drug as it failed to show promise in the human trials. There are a few drugs that are in development to treat myotonic dystrophy with various approaches such as small molecules but not available now. There have been some studies in mice or human cells of currently approved FDA drugs but no human studies. A few are listed below.

===> Furamidine Study in mice and cells with Erythromycin
====>Colchicine (Colcrys, Mitigare), Fall 2019 a study in mice and human cells

====> Erythromycin study in cells and mice successfully pushes back disease in Mice
====> Actinomycin D study in cells and mice successfully pushes back disease in Mice
====> Phenylbutazone Ketoprofen  Study in cells and mice pushes back disease in mice. NSAID type drugs. Ketoprofen would be strongly preferred. However, ketoprofen is no longer manufactured.

NOTE: These potential treatments are just that potential. NO studies in humans have been completed and reported. However, more and more information is available and here at this site you will find all that is published. You and your doctor should discuss these if you feel it warranted.

Myotonic dystrophy is a rare disease with an incidence of about one in 8000 in European and North American Populations. The incidence in Japan is approximately 1 in 20,000. In Africa and China the incidence is much lower.  The incidence of the congenital form of myotonic dystrophy  is much lower with an incidence of 1/100,000. A more recent study by Campbell in Canada put the incidence of the congenital form at 1/47,000 That means that most doctors will not have a patient with the disease in their practice. Thus, many people are turning to organizations like the Myotonic Dystrophy Foundation for help and assistance.

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Women and Myotonic Dystrophy

Women are uniquely affected by Myotonic Dystrophy. The congenital form of the disease is almost exclusively passed on by the mother. With the birth of a congenital infant the mother will need to care for the infant while she herself is affected with a slowly progressive disease. This disease manifests itself very insidiously.  In a nutshell it sneaks up and takes away a lot of the parenting skills over time.

Additionally infants that are not congenital in nature may have the juvenile onset. This can cause issues with learning disability, social, emotional and other considerations. This will cause a lot of stress on the family and the mom who may be the primary caretaker.

Some issues that women need to consider

1. The need to consider reproduction via Pre-Implant diagnosis
2. The need to care for an infant with Juvenile or Congenital DM1
3. Increased Menstrual Pain or Bleeding
4. Pregnancy

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Estate Planning

Overview Of Estate Planning Issues by Lawrence A. Frolik, J.D., L.L.M Professor of Law University of Pittsburgh, School of Law


When parents have a son or daughter with any type of disability, they must plan their estates carefully to best benefit that child. How parents leave their assets after death may greatly affect the quality of life for their son or daughter with special needs. This article presents basic information to help parents begin considering the very important issues involved in developing an estate plan when the future of a son or daughter with a disability must be taken into account.

Many families believe that they have so few assets that an estate plan is not necessary. This is not true. We often have more assets than we realize, although some assets may become important only after our death. The most notable asset of this type is life insurance. Therefore, whether you consider yourselves a family of substantial means or with little or no assets, estate planning should be done.

How the Type of Disability Affects Estate Planning
Disabilities, of course, can take many forms and have varying degrees of severity. The nature and severity of your child’s disability will affect the nature of the estate plan that you, as parents, develop.

Physical disabilities or health impairments. Many individuals have physical disabilities or health impairments that do not affect their ability to manage financial or other affairs. If your son or daughter has such a condition, how to leave your estate depends on a number of factors. The primary factor will be whether or not your son or daughter receives (or may one day need to depend on) government benefits such as Supplemental Security Insurance (SSI), subsidized housing, personal attendant care, or Medicaid. If your child does receive (or may one day need to depend on) government benefits, then it is most important to create a special estate plan that does not negate his or her eligibility for those benefits. How to do this is discussed in some detail in this NEWS DIGEST.

On the other hand, you may have a son or daughter with a physical disability or health impairment who is not eligible for or who is not receiving government benefits. In this case, you may be able to dispense with elaborate planning devices and merely leave your child money outright, as you would to a nondisabled child. If you believe that the disability may reduce your son or daughter’s financial earning capability, you may want to take special care to leave a greater portion of your estate to this child than to your nondisabled children.

There are some exceptions to this simplified approach, of course. One exception is when parents are somewhat fearful of their son or daughter’s financial judgment. If you are concerned that your son or daughter with a disability may not responsibly handle an inheritance, then you can utilize a trust, just as you would for a nondisabled heir. Another exception is if your child’s disability or health impairment involves the future possibility of deteriorating health and more involved health care needs. While your son or daughter may be capable of earning money and managing an inheritance at present or in the immediate future, in twenty or thirty years time deteriorating health may make it difficult for him or her to maintain employment or pay for health care. Government benefits might then become critical to your child’s security. Remember, benefits include much more than money; your child may also be eligible for valuable services such as health care, vocational rehabilitation, supported employment, subsidized housing, and personal attendant care. If, however, he or she acquires too many assets through inheriting all or part of your estate, he or she may be ineligible for these benefits. Therefore, in order to protect your son or daughter’s eligibility for government benefits at some point in the future and to provide for his or her long-range needs, you may need to consider establishing a special estate plan.

Cognitive disabilities or mental illness. If your son or daughter’s disability affects his or her mental capability, the need to create a special estate plan is more clearcut. Mental illness and cognitive disabilities often impair a person’s ability to manage his or her own financial affairs, while simultaneously increasing financial need. As a result, you must take care to ensure that there are assets available after your death to help your son or daughter, while also providing that the assets are protected from his or her inability to manage them. More information will be given later in this article about various ways to accomplish this. First, however, let us take a look at some basic information about wills and why a will is so important.

Writing a Will
All parents, but particularly parents of individuals with disabilities, should have a will. The object of the will is to ensure that all of the assets of the deceased parent are distributed according to his or her wishes.

If at death you have no will, your property will be dispersed according to the law of the state in which you live at the time of your death. This law is called the state’s law of intestacy. Although laws of intestacy vary from state to state, in general they provide that some percent of assets of the decedent passes to the surviving spouse and the rest is distributed to the children in equal shares. Writing a will is highly recommended, since the laws of intestacy are rarely the most desirable way to pass property to one’s heirs.

Although it is theoretically possible for any individual to write a will on his or her own, it is unwise to do so. Because of the technical nature of wills, it is highly advisable to have a lawyer prepare one. Parents of individuals with disabilities particularly need legal advice, because they often have special planning concerns. If you do not have a lawyer, you can call the local bar association, which will provide you with the name of an attorney in your vicinity. It is preferable, however, to contact a local disabilities group, which may be able to put you in contact with an attorney familiar with estate planning for parents of persons with disabilities. Not all lawyers are familiar with the special needs associated with caring and providing for individuals with disabilities. Before you hire a lawyer, be sure to find out if he or she has ever prepared estates for other parents who have sons or daughters with disabling conditions. If the lawyer has not, it is best to find a more experienced attorney. The cost of an attorney varies according to the attorney’s standard fee and the complexities of the estate. The attorney can quote you a price based upon an estimation of the work. If the price quoted is beyond your immediate means, it may be possible to negotiate a payment plan with the attorney, whereby you pay over time.

When making a will, however, remember that not all the assets you control are governed by a will. Joint property with right of survivorship, for example, passes independently of a will. If, for example, Tim and Sarah own a house as joint owners with rights of survivorship, upon Tim’s death Sarah automatically inherits the house without regard to what Tim’s will might say. Similarly, life insurance is paid out to the named beneficiary without regard to the will. The insurance is a contract between the owner and the insurance company, and the insurance company must pay the insurance to whomever the owner states. Many individuals have death benefits under an employer-provided pension plan. These, too, are not governed by the will but are paid to whomever the employee has designated. (Note: If you create a special estate plan to provide for your child with a disability — in particular, if you set up a special needs trust — review any life insurance policies you have purchased, and be sure that you have not designated your child as a beneficiary. The same is true for relatives who may have designated your child as the beneficiary of their policies.)

Personal property, such as clothing, furniture, and household effects, should be distributed by the will independently of the often more valuable assets such as stocks, bonds, and real estate. Personal property is often of great sentimental importance, but may have little financial value. To avoid disharmony after the death of the last parent, it is generally a good idea to make an equal division of the personal property among the children. In some cases, the parents may wish not to include the child with the disability in the division, particularly if that might disqualify this person from government benefits. However, in most cases it is advisable to leave the person with a disability a share of the personal property so that he or she does not feel excluded.

Remember, a will goes into effect only upon the death of the person who created it. Until death, the creator of the will can freely revoke, alter, or replace it.

How To Start Planning Your Estate: What to Consider
When parents have a son or daughter with a disability, they should give careful consideration to developing an estate plan that provides for that person’s future best interests. Here are some suggestions that can help parents approach planning their estate when a son or daughter with a disability must be taken into consideration.

First: Realistically assess your son or daughter’s disability and the prognosis for future development. If necessary, obtain a professional evaluation of your child’s prospects and capability to earn a living and to manage financial assets. If your son or daughter is already an adult, you should have a fairly clear understanding of his or her capabilities. But if your child is younger, it may be more difficult to predict the future. In such cases, you should take a conservative view. It is better to anticipate all possibilities, good and bad, in such a way that you do not limit your loved one’s potential or set him or her up for unrealistic expectations. Remember, too, that you can change your estate plan as more information about your child becomes available.

Second: Carefully inventory your financial affairs. Estimate the size of your estate (what you own) if you should die within the next year or the next ten years. Keep in mind that the will you write governs your affairs at the time of your death, and so it must be flexible enough to meet a variety of situations. Of course you can always write a new will, but you may never actually write it due to hectic schedules, procrastination, or oversight. Thus, the will you have written must have sufficient flexibility to meet life’s everchanging circumstances.

Third: Consider the living arrangements of your son or daughter with a disability. Your child’s living arrangements after your death are of paramount importance. Every parent of an individual with a disability should give thought to the questions, “If my spouse and I should die tomorrow, where would our child live? What are the possibilities available to him or her?” The prospective living arrangements of your son or daughter will have a tremendous impact on how your estate should be distributed. Involved in answering the question of living arrangements is whether or not your child will need a guardian or conservator to make decisions for him or her after your death. If you conclude that a guardian or conservator is necessary, you should be prepared to recommend a potential guardian or conservator in your will.

Fourth: Analyze the earning potential of your son or daughter. It is important to determine how much your child can be expected to contribute financially, as a result of employment. If he or she is currently employed, does this employment meet all of his or her living expenses, or only some? If your child is presently too young to be employed, you will have to project into the future. In many cases, even if your son or daughter is employed or expected to be employed at some point in the future, he or she will require additional financial assistance.

Fifth: Consider what government benefits your son or daughter needs and is eligible to receive. Support for a person with a disability will usually come from state and federal benefits. These might be actual case grants, such as social security or supplemental security income, or they might be in-kind support programs, such as subsidized housing or sheltered workshop employment.

In brief, government benefits can be divided into three categories. First are those categories that are unaffected by the financial resources of the beneficiary. For example, social security disability insurance (SSDI) beneficiaries receive their benefits without regard to financial need. Regardless of what the parents leave to a son or daughter with a disability, the social security payments will still be forthcoming once the person has qualified for them.

Second, some government benefits, such as supplemental security income (SSI) and Medicaid, have financial eligibility requirements. If a person with a disability has too many assets or too much income, he or she is not eligible to receive any or all of these benefits. Someone who is eligible due to a lack of financial resources can become ineligible upon inheriting money, property, or other assets. This would lead to a reduction or termination of the SSI benefits for that person. Therefore, if your son or daughter is receiving government benefits that have financial eligibility requirements, it is important to arrange your estate in a manner that will minimize his or her loss of benefits, especially SSI or Medicaid.

Finally, there are government programs available to individuals with disabilities where payment for services is determined according to the person’s ability to pay. Many states will charge the individual with a disability for programmatic benefits if he or she has sufficient assets or income. The most striking is the charge that can be levied against residents of state mental institutions. For example, if a resident of a state hospital inherits a substantial sum of money, the state will begin charging the resident for the cost of residency in the state hospital and will continue to charge until all the money is exhausted. Yet the services provided will be no different from the ones that he or she was previously receiving.

Establishing a Will: Four Possible Approaches
Having decided what your son or daughter needs and what you own, you can now consider how best to assist him or her. There are four possible ways to do so.

First, you can disinherit your son or daughter with the disability. No state requires parents to leave money to their children, disabled or not. If your assets are relatively modest and your son or daughter’s needs relatively great, the best advice may be to disinherit your child by name and have him or her rely upon federal and state supports after your death. This may be the wisest decision, particularly if you wish to help your other children. Instead of complete disinheritance, you might leave your son or daughter with a disability a gift of modest but sentimental value, such as his or her bedroom furniture. The value of the gift will be small enough not to affect government benefits, but it will indicate your love and concern.

Second, you can leave your son or daughter with a disability an outright gift. For example, suppose your son Tom has a physical disability. You might write a will that states, “I leave one-third of my estate to my son, Tom.”

If your child with a disability is not receiving (and is not expected in the future to need) government benefits, this may prove to be a desirable course of action. Your son or daughter, if mentally competent, can hire whatever assistance he or she needs to help with managing the gift. But if your son or daughter has a mental illness or cognitive disability, an outright gift is never a good idea, because this person may not be able to handle the financial responsibilities. If you want to leave a gift to support your child, the use of a trust is far preferable.

Third, you can leave a morally obligated gift to another of your children. Suppose, for example, that the parents have two children: James, who has mental retardation, and Mary, who has no disabilities. The parents leave all of their assets to Mary. Legally, Mary now owns all of the parents’ assets and James owns nothing. But prior to their deaths, the parents told Mary that, although they are leaving everything to her, they expect her to use at least half of the money to assist James in whatever way Mary thinks best. They left the money to Mary, because they do not wish James to lose his government benefits, and they think that there are ways that Mary could use the money to help her brother. For example, Mary might provide special gifts to James on holidays or pay for special assistance for James that would not be provided by the government benefit programs. The gift is a moral obligation to Mary, because legally she can ignore the parents’ wishes and do whatever she wants with the money: It is hers. It is only her conscience that guides her. After the parents’ death, if Mary chooses to ignore James and use the money for herself, there is nothing James or anyone else can do about it. Morally obligated gifts are often used by parents with modest-sized estates for whom a trust does not seem desirable. The danger of morally obligated gifts is, of course, that the morally obligated recipient — in our example, Mary — may ignore the wishes of the parents. Even if Mary does not deliberately ignore the obligation, she may encounter circumstances that make it impossible for her to carry out her parents’ wishes. Suppose, for example, that Mary or her children become ill or are in great financial need. She may feel under pressure to use the money for her own family, even if it means that James goes unhelped. Moreover, if Mary dies before James, it is possible that Mary’s family will not carry on the duty to help James. Finally, in case Mary is divorced, the money may be lost to her former spouse in a settlement.

Morally obligated gifts, therefore, are not a complete solution. They can be useful, however, especially when the parents have a modest amount of money and do not expect a lifetime of care for their son or daughter with a disability. Rather, they merely want their nondisabled sons or daughters to use some of the inherited money to assist their sibling with special needs.

Fourth, you can establish a trust for your son or daughter with a disability. For many parents who have a child with disabilities, the use of a trust is the most effective way to help that individual. The point of a trust is to keep assets in a form that will be available to your son or daughter but that will not disqualify him or her for government benefits for which he or she might otherwise be eligible.

The article in this NEWS DIGEST entitled “The Special Needs Trust” discusses in some detail what a trust is, the circumstances under which a trust is advisable, and issues to consider when establishing a trust.

In A Parent’s Words
It had been in the back of my mind for years, soon after I found out my son Samuel had this lifelong disability. What would the future hold for him when I wasn’t there anymore to be his advocate, friend, and supporter? It was both a big and little worry. Big, because it gave me a hole in my gut whenever the questions crept in. And little, in the sense that I tried not to think about it. I’d think: I’ll worry about that tomorrow, next week, when he’s older, when I’m older.

Of course, I’ve done things to prepare Samuel for that future he’s going to have without me, things like teaching him how to wash clothes and shop. But could I write a will? Make an estate plan? No, for years, I dodged that one totally.

Then, when his voice started to change, it suddenly hit me that he was growing up, that he was older now. That future I was always worrying about, and refusing to worry about, was beginning to arrive. I talked with my husband, and I found out he’d been worrying about Sam’s future, too. So he and I went to our lawyer. I was so nervous, to bring all the questions out in the open and look at them. No wonder I’d shoved them under the bed for so long!

But you know, it’s funny. Now that we’re finished setting up our estate and only need periodically to review our plans, I feel like an enormous burden has been lifted up from me. The big, black, scary shadow is gone. Well, not totally gone, I suppose. I still worry about Samuel, what will happen to him in his life. I guess every parent does that. But now I don’t worry in the same way. I know I’ve done all I can do for that part of his future, something that was extremely important to do, and I am very relieved. Now I feel like we can deal fully with the present day and see to the other things that need to be done to prepare Samuel for life as a man. And that’s very exciting.

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Pre-implant genetics

Ned Tijdschr Geneeskd. 2004 Dec 11;148(50):2491-6.                 Related Articles, Links

Results from 10 years of preimplantation-genetic diagnostics in The Netherlands

[Article in Dutch]

de Die-Smulders CE, Land JA, Dreesen JC, Coonen E, Evers JL, Geraedts JP.

Afd. Klinische Genetica, Academisch Ziekenhuis, Postbus 5800, 6202 AZ Maastricht. christine.dedie@gen.unimaas.nl

OBJECTIVE: To report the data from couples who were referred for preimplantation-genetic diagnostics (PGD) and treatment due to a significantly increased risk of offspring with a serious genetic disorder. DESIGN: Descriptive, prospective. METHOD: Data were collected from couples that underwent PGD in the period 1993/’03 at Maastricht University Hospital. Embryos produced by means of in-vitro fertilisation (IVF) were subjected to genetic tests several days after fertilisation. Subsequently 1 or 2 unaffected embryos were transferred to the uterus. Where there was an increased risk of a male with an X-linked genetic disorder, the gender was determined using fluorescence in-situ hybridisation (FISH). This method was also used to detect structural chromosomal abnormalities. The polymerase chain reaction (PCR) method was used for mutation detection and/or marker analysis of monogenetic disorders. RESULTS: A total of 691 couples were referred for PGD. The most frequent indications were X-linked disorders (30%), in particular Fragile-X syndrome, Duchenne/Becker muscular dystrophy and haemophilia A/B. This was followed by autosomal dominant disorders (26%), such as Huntington’s disease and myotonic dystrophy, and then structural chromosomal abnormalities (24%). A total of 120 women underwent 260 PGD cycles. An embryo transfer was possible in 158 of the cycles and this resulted in 45 successful pregnancies. The pregnancy rate was 17% per cycle initiated and 28% per cycle with embryo transfer. Up until december 2003 29 singletons, 8 sets of twins and 1 set of triplets were born. There were no misdiagnoses and none of the babies had congenital abnormalities. CONCLUSION: PGD was a reliable and successful method, with pregnancy rates similar to those of IVF or intracytoplasmatic sperm injection. PGD should be stated as an alternative during the preconception counselling of couples with an increased genetic risk, especially for disorders where PGD can be routinely applied, such as Huntington’s disease, myotonic dystrophy, cystic fibrosis, spinal muscular atrophy, Fragile-X syndrome and structural chromosomal abnormalities.

Shona has a great blog on having kids with DM1. She now has two healthy kids without Myotonic Dystrophy due to This preimplant genetics!! Click here for her Blog

About Me

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In 2006, I found out I had got Myotonic dystrophy, Type 1. This blog is about coping with this bombshell and how we have been able to start a family without passing on the condition. Before I started this blog, using IVF and PGD, we had already made Dexter. Now readers have followed our journey as we managed to get him a sister called Tabitha who arrived in November 2011.
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Roigs study congenital myotonic dystrophy

ROIGS STUDY

This is one of the few studies that gives long term social information about CMD. It contains some information that can not be found in other studies. This study focuses on long term outcomes. The Principal investigator was Dr. Roig and the Study was performed in a hospital in Barcelona, Spain. It is published in Pediatric Neurology Vol. 11 No 3 Pg. 208-212 It is somewhat technical but if you have a chance get a copy.

Summary:

“We report the clinical experience of 18 patients with the congenital form of myotonic dystrophy, the majority of whom were diagnosed and monitored from 5-14 years. Prematurity associated with congenital myotonic dystrophy gives rise to the severest clinical manifestations. Among them, respiratory involvement is common and is the leading cause of death in the neonatal period. Weakness and foot deformities secondary to muscle involvement are the predominant clinical features
of this group of patients from birth to 3-4 years. Once muscle strength improves learning disabilities and behavioral disturbances become the main clinical problems. All our patients, when tested after 5 years of age had intelligent quotients under 65, clearly below the Intelligent Quotation of their mothers (IQ=80). There is no relationship between the degree of the mothers and the patients disease. No
patient presented problems with routine immunizations, and no complications were observed in the 7 patients who underwent surgery under general anesthesia. Among surviving patients no correlation can be established between severity of the disease in the neonatal period and the magnitude of sequelae as teenagers. Mental and Behavioral disturbances are the factors which mainly influence the long-term
management and prognosis of this cohort of individuals.

Summary of Data

Table 1 Maternal and Gestational Data

Maternal Data (Information about mother)
Suggestive Phenotype 12/14 (12 of 14 were affected)
Myotonia 14/14
EMG myotonic discharges 13/13
IQ<80 6/8 Gestational Data (Information during Pregnancy) Miscarriage or perinatal Deaths 2/14 Polyhydraminos 7/14 Decreased Fetal movements 6/7 Preterm Delivery <37 weeks 2/18 Postterm Delivery >42 weeks 3/18
Difficult Delivery/Cesarean Section 12/18
Apgar Score <6 at 1 minute 9/18 Apgar Score <6 at 5 minutes 2/18 Table 2 Neonatal Period Data (After the baby is born) Hypotonia 18/18 Facial Weakness 15/18 Respiratory Distress 12/18 Mechanical Ventilation 5/18 Feeding problems 9/18 Skeleton Deformities 16/18 Pathological Fractures 3/18 Thin Ribs 12/18 Elevated Diaphragm 4/18-45.06% Table 3 Clinical Follow-up Data (Longer term information) Deaths 3/18 Loss of Follow-up 5/18 Facial Diplegia 7/10 Hypotonia 10/10 Delayed Motor Development 10/10 Myotonia 6/10 Persistent Skeletal Deformities 7/10 Strabismus (Squinting) 4/10 Cataracts 1/10 Surgery 7/10 Complications from Surgery 0/7 IQ < 65 8/8 Language Delay 10/10

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