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Explaining things

Everybody's different, nobody's perfect Written by Irwin M. Siegel, M.D.
A story written for children to explain muscle weakness.

Nemaline Myopathy version available.
This booklet has been adapted by Daphne Goring to specifically explain nemaline myopathy. You can request a copy by emailing davidmcd_@hotmail.com. (Microsoft Word format only.)
With thanks to Dr. Irwin M. Siegel for allowing his booklet be adapted.

Resource Links
The following websites have information worth reading if you are new to nemaline. They are mostly written by professionals using medical terminology which can be difficult to understand. However the information may help answer questions you have, or generate new ones to ask your doctor. I am always interested to hear of other websites to add. If you find one which you feel may be of interest to us. Then please email me. davidmcd_@hotmail.com

DOMINANT & RECESSIVE - The Simple Explanation

We all have two set of chromosomes (with all the various genes) - one set from mom and the second set from dad. The sex chromosomes X and Y define our sex - XX for girls, XY for boys. The rest of the chromosomes (# 1 to 22) are called autosomes (hence where the term autosomal comes from). We each have two sets of the autosomal chromosomes (# 1 to 22) which means that we also have TWO COPIES of EACH GENE.

When a genetic condition is AUTOSOMAL DOMINANT, one of the genes is not working right, and the gene that is "ok" cannot compensate for the affected gene. Some types of NM are autosomal dominant.
With an autosomal dominant condition, the next generation has a 50% chance of receiving the affected gene from the affected parent.

When a genetic condition is AUTOSOMAL RECESSIVE, both of the genes are not working right. Other types of NM are autosomal recessive.
Children who show the recessive condition have inherited one affected gene from mom and one affected gene from dad. Parents of the affected child are carriers - they have one gene that is "ok", and the other gene is not working right. In this case the "ok" gene can compensate for the affected gene, and the carrier does not show signs of the condition. There is a 25% chance of the next generation getting both affected genes from two carrier parents.
If the affected children then go on to have kids with a partner that has both copies of the gene being "ok" - the next generation will be carriers - get the affected gene from the affected parent and an "ok" gene from the partner.
For families with more than one NM child and no prior history, autosomal recessive is the given explanation. However, genetics is not always this straightforward and there are more complex possibilities which will give a different outcome in the subsequent generation - why more research needs to be done .......

By Daphne
(proud mother of two great kids, Taryn and Keelan, both with NM and no prior family history of NM - note how we didn't follow the 25% genetic rule!)

The BiPAP®

The BiPAP is a (bi)-level device which assists with (p)ositive (a)irway (p)ressure to help one breathe (in many cases when one is sleeping). We rely on our diaphragm to breathe when sleeping, but when you have weak muscles, you do not have the capacity to inhale enough air into the lungs which can cause you to retain carbon dioxide (CO2). When your CO2 levels are high, you cannot breathe as it chokes out the oxygen. This may cause you to go into respiratory distress/failure because of the inability for you to have a good exchange between oxygen and the carbon dioxide. Kirsty has had several sleep studies which determined that without a BiPAP her oxygen saturation levels are dangerously low. She also had arterial blood gases done which indicated she was retaining high levels of CO2. To continue without assistance from a BiPAP, she would be potentially starving her brain of oxygen. She was working extremely hard to breathe and this was tiring her out. She had no energy reserve left for eating (another chore requiring energy) after using it up to breathe which was a more important task. She needed to have a g-tube because she was not able to gain weight in over a year. In any case, there are probably others out there who are more versed than I with respect to the BiPAP, and I may not have explained it properly, but this is why Kirsty has it. It just helps her to breathe without having to expend the energy and when she wakes up in the morning she now looks refreshed and not lethargic and sluggish as she did prior to having the BiPAP. She is now gaining weight and is getting stronger and I attribute this to the fact that she is using the BiPAP. Consult your doctor for advice. The BiPAP is manufactured by Respironics Inc.