BMN-111: A Family Dinner Discussion

Achon HandsWhat if you could take a pill to make your achondroplasia go away? No more risk of spinal or foramen magnum compression. The chances of central and obstructive sleep apnea would be less. And there wouldn’t be that bothersome task of finding a bike helmet to fit. Would you take that pill? If it would lessen your child’s chances of social and health struggle, would you consider giving it to them? Well, BioMarin is in the process of developing a drug that could change achondroplasia (FGFR3) completely. BMN-111 is in clinical trials right now.

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Ceiling Fans for Night-Time Comfort

Some of us tend to run generally hot, whether it be genetics, weight, or a lot of hair! We’ve heard many stories about LP kids who sweat like crazy while they’re sleeping which can be alarming for new parents. If you’ve never had a ceiling fan installed in the bedroom, we highly recommend you consider this for your children (and your master bedroom!)

Why Ceiling Fans Are Great

  • Ceiling fans keep you comfortable by moving air across your skin, increasing evaporation of sweat and leaving you feeling cool.
  • Ceiling fans are very low cost to run, especially compared to the cost of Air Conditioning.
  • Depending upon the speed you run your fan at, it may produce a gentle white noise effect which can be calming while you sleep.
  • Many ceiling fans have a built-in light so they can help brighten up a dark room.
  • Your child will definitely be more comfortable at night and this will help them sleep through the night.Read More

Vehicle Mobility Assistance Programs

Owens 67080-01 ABS Running Board for Honda Odyssey

We recently purchased a Honda Odyssey minivan to support our family. While we love the vehicle, Honda unfortunately does not offer running boards anymore for the Odyssey. We were able to find aftermarket running boards that are made for the Odyssey, and even better, Honda will reimburse us for the purchase! Some of the automobile manufacturers have Mobility Assistance programs to help reimburse costs related to vehicle modifications due to disabilities. We encourage you to check out these programs and keep them in mind when purchasing a new vehicle.

You can use many of these programs to get reimbursed for pedal extensions on your new vehicle!

Here is a list of the programs that we know about:

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Cord Blood for Dwarfism Genetic Testing

 

When my husband and I were planning to get pregnant, there was the question of double dominancy for heterozygous dwarfism. My husband has pseudoachondroplasia and I have achondroplasia. We were told why take the risk and even TRY for children if there is a chance of health issues or being incompatible with life. And we felt, why not try? Don’t get me wrong. Talking to our geneticist and OB/GYN definitely got us rattled. But, I was determined to find the answers. In my own research, I found a handful of people with both the pseudo and achon genes who are living a productive, healthy life. Most of them had only a couple of health problems, which was fewer than our son who only has one dwarfism gene. I interviewed these LP adults who were either carriers of both genes or whose child was a carrier of both genes. All of them said that they had the same common surgeries of pseudos or achons. By the time we got pregnant, I distinctly remember a young genetic counselor having a serious talk with us about our pregnancy. She had this solemn look on her face as she went over the punnett square. We smiled and said to her we already knew the probabilities. Coincidentally, our childhood geneticist had walked in to consult with us. When she walked into the room, she smiled and assured the counselor, “They know their stuff.”

We could’ve had amnio done with both children, but we thought the risk was too high to endanger the baby. And what would we do with that information? Ending the pregnancy was out of the question. We felt we would just deal with it once the babies were born. With our son, the ultrasound results showed he was definitely achon (head, trident, etc.), but we weren’t sure if he also had the pseudo gene. We didn’t care and just went forward without further in utero tests. When we got pregnant with our daughter, her ultrasounds didn’t show achon features. But, we knew that pseudos are not diagnosed until 2-3 yo., which was when my husband got diagnosed. When I gave birth to my daughter, we saved the cord blood to do the genetic test. Though we could have looked for the COMP gene, it would be more accurate to match the cord blood against my husband’s blood since he doesn’t show “classic pseudo” features as Dr. Jacqueline Hecht noted. He more resembles MED due to his height and hand features. There was no match for the gene with our daughter. We didn’t care whether or not our children had any dwarfism or the fact that she is Average Height. We just wanted to know without harming the baby with a blood draw. We have a blog entry that talks about genetics.

Some geneticists experienced in dwarfism say that heterozygous dwarfisms (two different dominant genes like achon and pseudo) ARE considered high risk (more health complications, possibility of still birth, etc.) and some say it is not a risk. I know of children with two different dwarfism genes (heterozygous) and one of them is living and healthy. The other had many health complications and passed before the age of 5. But, I never asked that parent what the cause of death was. The LP mom was a friend of mine, who unexpectedly passed within the year.

Is MED and Pseudoachondroplasia considered lethal? From talking to geneticists on LPA’s Medical Advisory Board (MAB) and those who have followed us throughout our lives (experience w/ dwarfism, but not on the MAB), MED and pseudo have similar genetic traits. I don’t know if that would be conisidered homozygous dwarf genes or heterozygous dwarf genes. My husband does not resemble the classic pseudo. That is why we had our children’s blood matched directly with his instead of looking for the COMP gene. If you are even the slightest interested in knowing the baby’s type of dwarfism, you could just save the cord blood and do the genetic test this way. I did this when my daughter was born.

In conclusion, there are several means of determining whether a child has dwarfism. But, the question is: What would you do with that information?

Eating Healthy and Having Short Arms

Soapbox Time. 😕 Please, parents! If there is one thing that you can do for your LP child (or any child): teach them to eat healthy and keep their weight down. It IS so easy for LPs to gain weight and even tougher to lose it. I’m not talking about body image. We’re talking about keeping the weight off for health. Weight affects our back and legs, most immediately. If an LP teen weighs 100 pounds, they are already the weight of an LP adult before all the life stages that can cause weight gain. By life stages I mean, Freshman 15 in college and adulthood weight gain (drinking alcohol, eating fast food due to time constraints and convenience, etc.). Trust me! With every Freshman 15 (in high school and college), I gained the weight. Not all 15 pounds with each stage, but I did gain weight. As a woman, I had even more to gain when I got pregnant (20 pounds and more). The excessive weight can cause neurological back and leg issues. These surgeries can have complications. And LPs want to reduce or avoid surgery as much as possible. As much as we would like to live life limitless, we should try to maintain a healthy lifestyle to live life to the fullest!

Yummy, endulging Mexican food!

Like many LP adults my age, I have spinal stenosis issues. I didn’t have dwarf related health issues until my middle adulthood. Even though I didn’t do tumbling, gymnastics or other activities that can cause spinal stenosis, I have mild to moderate stenosis that gives me that tingling feeling (like I slept on my hand). Thankfully, my symptoms do not impede my daily life. I do notice that with the slightest weight gain (5 lbs. or more), the “tinglies” happen more frequent and become more severe. So I try to keep my weight down as much as I can, even if the junk food calls my name. Believe me, they do call my name! As an LP parent of an LP, I emphasize healthy eating to my children because obesity, diabetes and cardiac issues are genetic on both sides. Talk about double whammy with the dwarfism! If I can teach my children now, hopefully, they don’t have health issues early in their lives.

Healthy eating is difficult for everyone. It can be more difficult when a person of short stature cannot reach things in a kitchen to make healthy meals. Though I’m not wheelchair/scooter bound, I can understand how difficult it would be to use an oven, even more a pain to go from the fridge to the counter to the oven, etc. I think I lose weight just trying to cook a meal– going up and down the two stools in my kitchen. I have one kickstool that I love to literally kick around to get it across the floor. The other is just a stable Ikea step stool (the taller one called Bolmen). It’s taller than a normal one-step stepstool, but light enough for me to move with just my foot. The larger step gives me the height I need and I feel like I’m getting a workout with these high steps up.

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