Could there be a new “cure” for Down Syndrome? The internet is buzzing today after the September 4th edition of Science Translational Medicine published a recent study about how a team of scientists from John Hopkins University used an experimental compound to reverse the Down syndrome like learning deficits in mice.
Fox news reports that they accomplished this by:
“…injecting a small molecule known as a sonic hedgehog pathway agonist into the brains of genetically engineered mice on the day of their birth. The treatment enabled the rodents’ cerebellums to grow to a normal size, allowing them to perform just as well as unmodified mice in behavioral tests…”
Roger Reeves, one of the researchers behind this study, had previously found that a characteristic of people with Down syndrome is having a cerebellum that’s approximately 60% the size of a typical person. In order for that important brain region to grow and develop, a small population of cells in the brain must quickly divide and multiply shortly after birth.
These brain cells require a specific growth factor known as sonic hedgehog pathway (not to be confused with one of the greatest video games of all time) in order to stimulate the cells to grow and divide.
The researches determined that a person with Down syndrome did not respond as well to this growth fact, and it actually stunted the development of the cerebellum (the region of the brain import to cognitive processing and emotional control.) So they thought if they could stimulate the cells at birth they could make up the deficit.
In order to test the theory, Reeves and his team used some genetically engineered mice which had extra copies of about half of the genes found in the 21st chromosome, which caused the mice to have many of the characteristics of Down syndrome such as a smaller cerebellum and learning difficulties.
The researchers injected these mice with a sonic hedgehog pathway agonist on the day of their birth. Here’s what they found:
“From that one injection, we were able to normalize the growth of the cerebellum, and they continued to have a structurally normal cerebellum when they grew up.”
In further testing the “mice with Down syndrome” preformed just as well as “typical mice” at tests that measured their spatial learning and memory capabilities.
In other words, they “cured” some of the characteristics of Down syndrome in these mice.
This treatment has yet to be proven effective in humans with Down syndrome, and future research is needed to determine exactly how and why the injection improved the mice’s cognitive abilities.
It’s also important to note that this study is aimed at new babies born with Down syndrome, unlike this study that is working on improving the life of people already living with Down syndrome (like my son.)
Studies like this bring up a lot of questions and thoughts for me; to many to go into on this blog post. However, I’d love to hear your thoughts about this study and the conversation about “curing Down syndrome” in general. Would you allow your child to take medication to help them with some of the cognitive / learning delays that is often a characteristic of people born with Down Syndrome? Why or why not?
Leave your comments / thoughts below and let me know what you think.
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As a mom of daughter with DS, it seems like these Drs are trying to "fix" the baby as if something is wrong. There is so much out there about the medical problems associated with DS, the learning difficulties, etc. but what about all of the great things that are kids can and will accomplish. I'm just so sick of hearing about "cures" and "fixes".
I think one person working on one thing does not mean others can't be working on other things. Yes, babies with DS aren't "broken" or need "fixing" but if something like this can help them, why fight it?
A lot of ground breaking things come from studies that were trying to find something different. It is possible that while looking for a "cure" they may find a "treatment" to help with developmental issues as well. Things that will help in conjuction with EI.
It's really not a zero-sum game.
I do not believe their is a cure. Years ago they didn't think these babies would even live a long life. My cousin is in his 60's. Never was much of a life for him, but the love his family had for him. DS babies can do so much more. More people care then they did years ago. Except and love them :)
As a grandmother of an 18 month old grand daughter with DS, would I want her to undergo or have undergone this type of "cure"? NO...NO...NO. She is perfect and I wouldn't want her to be anyone other than who she is right now. She had heart surgery at around 6 months old but that was a very necessary surgery. Would this "cure" improve the quality of her life? She's surrounded with love, support, family and friends. She brings so much to everyone's life and is destined to lead a life of purpose and fulfillment.
What's next....do we inject 'normal' children to increase their IQ levels??
Dear Wendy, let's say I am a granddaughter of an 60 year old grandmother with Alzheimer, would I want her to undergo or have to undergone a new type of “cure” to prevent the ravishing effects of Alzheimer? NO…NO…NO. She is perfect and I wouldn’t want her to be anyone other than who she is right now. Would this “cure” improve the quality of her life? She’s surrounded with love, support, family and friends. She brings so much to everyone’s life and is destined to lead a life of purpose and fulfillment. Hm, somehow I don't think your reasoning would settle well to those dealing with the debilitating effects of Alzheimer in their lives or those caring for them.
As a mother of a 28 year old daughter with downs, whom I love DEARLY, I have to disagree with your thinking. I have walked through the JOYFUL, FUN days of her childhood and seen her struggle into adulthood. She has always taught me so much about life, sensitivity, peace, joy, spiritual discernment and so much more. She has been surrounded with a family that loves her dearly. However, I have watched her long to do what others do, desire and not be able to express her emotions, struggles or not know how to deal with the fearful things that happen around her. I have also seen her regress into autistic tendencies and even Alzheimer like tendencies. That was a painful time! Having DS isn't all fun and laughter. We have done much with natural, alternative diet and supplementation and seen much improvement. That has taken hours and hours of research, time, and effort. There are great challenges in some of these children at different times. I have constantly been seeking to improver her quality of life and enjoyment. I think we need to be open to checking into research that would improve the life of another individual whether it is the grandmother with Alzheimer or the sweet downs children.
Always, gratefully, Rachel's mom (and according to Rachel, her Sweetie Mom).
I completely agree with you Linda. My daughter Holly is almost 8 and I wouldn't change her for the world. She has DS and that's the only thing I would take away from her and purely for her to have a better future for herself. We love her so much and are so proud of her. She's gorgeous and will have a go at anything with gentle encouragement. She's doing great at Mainstream school. All research is welcomed to me and for all conditions.
My first reaction:
IF this were proved safe with no harmful side effects I would ABSOLUTELY have done this when Ruth was born 6 1/2 years ago. But no way would I take advantage of something like this now. Now she is who she is and this would change that. I would not even do this NOW I order to address her stubbornness and believe me, that is saying something.
My second reaction:
I really do hope this type of research continues to address issues like early onset Altzimers and the higher incidence of leukemia seen in the Tri21 population.
My third reaction:
I've read enough science fiction to know this type of mucking about never ends well. Yes, I know they are just stories but I think of them as thought exercises for the future. There are so many more questions that have to be addressed then just how this affects the Tri21 population.
Who will pay for this?
What happens to us as a society if only rich people can afford this?
How is this any different from abortion? (ok, that's an easy one but the underlying thought process is not that much different)
What happens if this is injected into a typical newborn?
Flowers for Algernon, Beggars in Spain and Speed of Dark are just the stories I know of.
And if you want to flame me go ahead and get it out of your system. I never read the comments anyway.
Diane I agree with you. My son 7 with DS is perfect. When I was expecting the doctors said that twin 1 had 3mm of nuchal fluid on the back of the neck, with 1:20 chance of abnormalities. Twin 2 had 1 in 1000. Well I thought GOD can give me twins GOD can give me special needs 'BRING IT ON' and the doctors were wrong!!! I was offered a termination of twin 1, as they are non identical, one being a blue one and one a pink one. Now 7 years later, my little girl is fabulous and her only problem is that she is 7 going on 17. My little boy twin with DS is fabulous and his only problems are copying his twin sister. Yes he is delayed but I would not change him, as he is will achieve anything he wants to and will and does amaze us every day. Hugs Claire xxx
Hi Claire! I would love to talk to you sometime if you would be willing to share your experiences on raising your twins. I have twin girls (one with DS) who are 21 months old and will soon have to make some decisions about preschool and things.......it would be nice to get your perspective on things.
Us too... two little girls one with DS 16 months old now.... what a journey it has been so far..... would love to chat to you both....
Hi Ann-Marie, I would love to chat with you as well! Are you on facebook?
WOW, I have 26 yr old twin girls, one with DS - I haven't met too many parents with the same situation. They are both my "baby" girls, always have been and always will be - however, Kathleen Is the light in EVERYONE'S life. On the topic of discussion here, I honestly don't know if I would've allowed this to be done to her at birth, it's a two sided coin. She is who she is and our gift from God, but I'm sure if she had a choice she would rather be like her sister.
Hello all,
We also have twin girls just turned 12, one of them is with DS. Its been a (joy) ride of my life so far. I always believe that one should not tamper with mother nature. Let nature take its course of action. However, we in our part go all out to do what we have responsibility to do towards our kids, whether mainstream or special needs. Be open-minded. In our days we never had mobiles and Skype, but the world has changed substantially since then and today we can see each other over skype whenever we want. Changes remain constant, let's pick-up the good ones with prudence and utter care. Rest we leave to Almighty. God Bless All.
We are probably a long way away from this being tried on humans, but the issues surrounding it are challenging. Parents make choices today to give their children with ADD or ADHD medicines that impact brain functioning with results that some would say are quite positive. But, make no mistake, the brain is being stimulated.
"For someone with ADHD, stimulants regulate impulsive behavior and improve attention span and focus by increasing the levels of certain chemicals in the brain, such as dopamine and norepinephrine, which help transmit signals between nerves." -- http://www.webmd.com/add-adhd/guide/adhd-stimulant-therapy
So, I don't think we can say that, just because we are talking about the brain, somehow medical intervention is off limits. However, since personality can be affected, parents would want to tread very carefully. I would be most concerned about that. Would I like my son to be able to better focus and improve his learning capacity? Absolutely. Would I want that even if it risked changing his personality. Not likely.
I would generally agree that if the child is happy and well taken care of, any modification that could risk changing that child's personality with the hopes of improving cognition is probably not wise. But if side effects were not an issue, society would be benefited by people with Down syndrome becoming more embedded into everyday life.
Totally agree with you!
Agreed Joel !!! Let's continue to support research so that we don't stop until we find an option where there is NO SIDE EFFECT that would alter/impact personality. I think you hit it on the head with that distinction...IF a compound was discovered that helped improve cognition/memory/learning and also one to prevent early onset AD I believe many in the DS community would embrace, or at least seriously consider. You are so right in how much society would benefit from people with DS being more embedded in everyday life! There are 400,000 individuals in the US alone w DS, working together we can accomplish anything we want to for our loved ones...lets fund the research and decide what we embrace and what we reject...but in order to even do that, to put those options on the table, we need to fund the research.
I go back and forth on what I think about possible medical breakthroughs like this one. On one hand, I believe God has given us/others gifts to make these types of things possible, and it could mean amazing benefits in regards to the challenges people with Down Syndrome face, (if it had similar effects on people). On the other hand, I also believe that our perfect God does not make a mistake, and the more I get to know my son (who has DS), the more I feel the benefits of knowing him in the midst of all of his challenges far outweigh the benefits of being able to avoid those challenges all together. If a "fix" would have changed his character and demeanor in order to aid in his cognitive development, I may be selfish for feeling this way, but I just don't think it's worth it.
I totally agree with all that you have said. People with Down's are an "endangered species". We all learn so much by having these folk in our world as well as other differently abled people. Let's embrace all the variety in our wonderful creation.
As a mother of a three year old with down syndrome, I personally wouldn't change her for the world... We are supposed to teach our children but I honestly feel like she is teaching me. We were very fortunate, she is very healthy and doesn't have any of the known health problems that are associated with down syndrome. She can count to ten , she knows her ABC's, she is potty-trained, she loves to sing and "beat up" her little brother.... Lol what exactly needs to be changed with children like ours? While there is a very broad spectrum, they are just as capable of learning what "typical" children learn it just takes a little more effort on the teacher's behalf. So I guess my answer would be no I wouldn't want to cure down syndrome, but as a first time parent hearing that there will be something "wrong" with my child and this would "fix" them... Maybe other people would feel differently!
WOW! This is very interesting. Would it be right to change what God has created? Is that what were doing anytime we introduce medicines and other medical procedures to help a child (born or in utero)? Only prayer and a parents sincere desire to choose what is best for their situation can determine this. Knowing that a child with DS is going to one day grow up, require care and assistance until they leave the planet, makes for a huge challenge in thinking what is right. Would this "fix" make them able to earn their own way and be totally independent one day? That would be a wonderful success within itself, but changing the personality of a DS person would be tragic. The unconditional love, acceptance and joy their personality presents is difficult to challenge. Is a 65 year old with DS the same kind of person as a child with DS?
NO! Life and years change them into older people with big health issues and often left alone or put away to be "cared for" so, yes it would be great to "fix" the inmature nature and learning capabilities of an unborn or newborn with DS. Will it happen anytime soon-no way. So prayer and planning are the solution to "fixing" DS issues and nothing medicine does can compare with this plan.
It really does make you think...would I use every available and safe option to ensure my son has every opportunity to lead a happy, healthy and productive life? Yes, I already have and continue to do so every day, isn't that why we spend countless hours with therapy and doctors etc? again...yes.
I tend to be skeptical of every study that comes to press. My first question with this study is, isn't the mouse artificially replicating t21? How will that change things. I am sure this is a long way off.
I am more excited about advances in Alzheimer treatment and am hopeful THAT research and those studies get the funding and attention that is needed not only for our children with T21 but for a large portion of society.
I wouldn't change who Jacob is, but I sure welcome any advancements in science that will enhance his life.
I'm very torn on this issue. Part of me (the "teacher" part) is thinking, "that's fabulous; something has been found to, perhaps, minimize the learning deficits in children with Down Syndrome, which will help them lead a more "typical" life." The other part of my brain is saying, "but there's nothing "wrong" with these kids; why mess with it?"
Here's the deal.. Often times, we notice the love in children with DS and people comment on that and appreciate their hugs, etc. If we "cure" DS, are we stripping away characteristics in our children that reflect Jesus? Would it be okay to change their DNA that God co-created with us (parents) in order to give them a more "normal" life? Would giving our children with DS a "normal" life make them more sinful and less loving?
I am thankful to have a son with DS because God is much more visible and real in our life with him. We have a living/breathing testimony. We don't have to worry about what people will think if we bring up God in a conversation. His grace, love, and provision is painted all over our lives.
Who's Jesus?
Annie,
Great question. Jesus Christ is the Son of God who is the Creator, Savior, and Sustainer of all things !
John 1:1-3 - In the beginning was the Word, and the Word was with God, and the Word was God. He was with God in the beginning. Through him all things were made; without him nothing was made that has been made.