Summer Struggles & Decisions

We have spent a bit more time at the hospital this week than we had planned on. Faith has had a lingering cough for about 2 months now. For the most part, she has always struggled with clearing her throat and managing her own saliva. However, she was doing much better for awhile after we started her on Robinul (it helps to dry things up and reduce saliva). Recently though, she seems to be really struggling again and is really struggling to clear her throat at times. Lots of gagging, choking, turning bright red, breathing concerns, etc. She has seen several doctors the past few months so I always mention it to the doctors and make sure they listen to her really well to make sure she hasn’t aspirated and gotten something into her lungs. All the doctors have felt that she just sounded congested and “nasally” and didn’t have any concerns about her lungs. This past weekend she had some breathing issues which we resolved pretty quickly by repositioning her and adjusting medications but her cough just seemed a bit worse. Then, she started showing some signs of illness such as diarrhea and vomiting which we figured was something viral but the cough was still concerning. So to make a long story shorter, we ended up at the hospital because it was assumed she was going to need a chest x-ray to rule out pneumonia. So after the usual lengthy visit in the ER, the chest x-ray came back clear and we didn’t get any real answers. The recommendation was to follow-up with pulmonology and GI. I have made contact with these doctors and  am sending them video of these coughing episodes for them to review before Faith’s next appointments. I am hoping maybe they can give us some suggestions  in the meantime. One of the doctors in the ER felt that the coughing and Faith’s struggles with clearing her throat appear to be reflux related. I do feel that is a possibility and most likely part of the problem.

We had an appointment with Faith’s endocrinologist this week. We have been waiting to see if there was any change in her IGF-1 levels since her last blood work. Her levels are still very low. I could try to explain all the details that were explained to us with diagrams and lots of medical jargon but the short summary is that the doctor feels that Faith is not responding to the growth hormone since her IGF-1 levels are still so low despite her getting growth hormone injections for awhile now. We even increased her dose to see if she just needed a higher dose to get an effect. So, if she truly is not responding to it then we will not keep her on it. There is no point. So, what is the plan? First, the endocrinologist is going to go over all of Faith’s medical history and information again, do some more research himself, have his medical students do even more research, and then we will meet back with the endocrinologist in the next month or so to have a long discussion. We most likely will have to make a very big decision of whether or not to pursue IGF-1 treatment for Faith. There are many unknowns. A big question we have and the doctor even has is would it be safe for Faith? IGF-1 deficiency is very rare. Faith’s endocrinologist currently does not have any patients that have this. However, there are a few other children that have this that are seen at the same hospital.  We are interested in learning more about possible treatment options and the potential risks and side effects to Faith as we approach making this decision. According to the endocrinologist based on Faith’s measurements from past appointments, Faith is not growing adequately.  To us and to many others, it seems that she is growing and getting bigger. However, her growth is very slow and long-term it will most likely become more apparent.  If we decide not to pursue treatment, Faith will most likely remain very small. The doctor did remind us that in terms of managing her care, lifting her, etc, that it may be helpful to us for her to be small. However, for us there are many questions and concerns that we have about other risks to her body that may arise as a result of the IGF-1 deficiency that we want to take into consideration. We definitely have many things to consider in this decision-making process. We are hopeful that we will have enough information to make an informed and educated decision of what is best for Faith.

Faith is still struggling with the chorea movements despite the addition of Diazepam to her daily medications. We are still in the process of increasing her daily dosage so there is still hope. If it not successful in getting the movement under control, we may have to consider other medications. Faith does seem happier and less agitated despite the excessive movement so that is improvement in itself.

Faith definitely has challenges and struggles but we are enjoying more smiles! Just trying to figure things out and make life the best it can be for our super girl!

Here are some fun summer pics:

Pool time!

Pool time!

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Playing with her bath sponge! Great toy for sensory input!

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Sibling love!

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Holding Trin close! Pretty cool that Faith did this!

I'm a lucky mama! :) Life is crazy, but what a blessing these children are!

I’m a lucky mama! 🙂 Life is crazy, but what a blessing these children are!

Keeping the faith,

Bridget


ICAN Conference 2013

View driving into Chicago

View driving into downtown Chicago

We are back from Chicago! I wanted to write a post ASAP so things would be fresh on my mind. Also, I have had so many people ask me already how the conference and trip overall went that I wanted to follow-up with everyone. The short answer is: GREAT!!!

First off, Faith had an incredible four days! She was so happy and content the entire trip! She did great in the car to and from Chicago and she had some good stretches of sleep at night at the hotel. Faith doing so well helped us to be more rested and less stressed which I believe helped us get so much more out of the conference. We are in the middle of a medication change right now and started an increase of diazepam (valium) the morning we left so that could be a big part of Faith doing so well. We are trying diazepam to see if it will help get the chorea under control. Faith is still moving a lot but we still have a minimum of one more increase if not more to see if the diazepam is going to work. So far, Faith just seems less agitated. It is definitely much better though to see her happy and moving then agitated and moving!

We arrived in Chicago Thursday afternoon. After reorganizing and getting settled into the hotel, we ventured out for a walk. We ended up walking lakeside and spent a little time at the Ohio Street Beach. Faith enjoyed putting her feet in the sand! Then, we walked down to the Navy Pier area. It was a beautiful day to be outside!

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Saw this along the walkway to the Navy Pier. Great thought to start our trip!

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On Friday, we headed to the University of Illinois-Chicago(UIC) campus for the medical clinic which was held at the Illinois Eye and Ear Infirmary. We met with teams from genetics and oculoplastics. The genetics team from Einstein in Philadelphia (Tanya-certified genetic counselor & Dr. Schneider) direct and coordinate the Anophthalmia/Microphthalmia Research Program and have created a registry for cases and help with genetic testing. They are doing as much research as they can to help families! I’m not sure where we would be without their help and support and I’m sure I speak for many families! Tanya has guided many families in their early grieving days and helped so many of us get a diagnosis as well. ICAN families have been helped tremendously by the Einstein genetics team!

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At the clinic we met with genetics first and discussed what has been going on with Faith. We have known for awhile that Faith has the majority of the manifestations associated with SOX2, i.e.-bilateral anophthalmia, swallowing issues, sensorineural hearing loss, brain abnormalities, growth issues, developmental delays, etc. Faith’s excessive movement(chorea) has not been seen before in any other cases of SOX2 in the A/M registry. It is possible that some of these other issues are due to something else besides SOX2. We have wondered this for awhile-is something else going on? Are we missing something? So, we have some next steps. First, we are sending Faith’s most recent brain MRI to a neuroradiologist. If there is anything that can picked up from looking at her brain images it could give us some helpful info and direction. The second thing we are going to do is to request a whole genome sequence. This is very new and actually just recently came available from what we just heard at the conference. So, how does it work and what will it tell us? I will do my best to explain! 🙂 When Faith was born we took her cord blood and sent it to a lab to start genetic testing. SOX2 was the first gene tested since it is the most common in bilateral anophthalmia cases. Since Faith tested positive there was no need to continue testing for any other anophthalmia related genes. Faith’s DNA is still available as it is part of the research project so that is what will be used to conduct further testing. If there is any other gene mutation, addition, or deletion in Faith’s DNA that has been described and published then it should be able to be detected. We are curious if Faith could have another gene mutation that is causing the chorea and other issues. The genetics team agrees that it is worthwhile to pursue. If we do get new information, it could be very beneficial in helping manage and treat Faith. It is possible that nothing will come out of the testing in the short-term and it could take a very long time even if she has something that has been described and published. However, there is also the chance that we could find out something relatively quick. If finding out wouldn’t change things then I  don’t think we would be as eager to pursue this but if there is effective treatment out there that could help Faith then we have to do everything we can to try to get answers and pinpoint what is really going on and what things we can do to manage and treat it. So, the waiting begins…

Next, we met with the oculoplastics team for a second opinion. We discussed the current situation with Faith’s conformers and the idea of surgery. They also felt that extensive surgeries would be needed and there are no guarantees for success. We also discussed Faith’s other medical issues increasing the risk for multiple surgeries over a short period of time. There are options and ideas but the overall theme from everyone we have talked to in oculoplastics is that it would be a very long process. At this time, we are not planning on doing any surgeries. We have no evidence or expert opinion to believe that Faith would have additional ear, nose, or throat problems if we don’t do surgery. Our thoughts are the same as before about doing surgery just for cosmetic purposes considering everything else that is going on with Faith right now.  We are putting our focus on keeping Faith healthy and happy and our energy into helping her make as much developmental progress as possible. Besides, she is just so incredibly beautiful already! What an incredible smile!

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On Saturday morning, we got on the bus and headed back to the UIC campus for the 8th Annual International Children’s Anophthalmia(ICAN) Conference. Conference topics included:

  • Ophthalmology Issues in Anophthalmia/Microphthalmia
  • The Genetics Revolution
  • Helping Your Child Succeed: Tips from a blind adult
  • Low Vision Technology
  • Emotional and Psychological Impact of Parenting a Child with A/M

There was a banquet Saturday evening which gave us the opportunity to connect and reconnect with other families who have children with A/M. There was a DJ and karaoke for the kids. Faith enjoyed listening to the music!

Faith listening to the music at the banquet.

Faith listening to the music at the banquet.

The conference wrapped up with a breakfast Sunday morning. We said our good-byes to other ICAN families and headed back home to St. Louis. We truly had a great trip!  It was inspiring and therapeutic to spend time with families who understand some of our daily challenges and struggles. We learned a little, got some new ideas, have some next steps in place, and even feel a bit rejuvenated! Hoping we will be at the next ICAN conference in 2015!!

Keeping the faith,

Bridget

 


Chorea

Faith had her appointment at the movement disorder clinic this past week.  The neurologist observed Faith and explained Faith’s movement using the term, “chorea”.

According to the NIH, chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. The Movement Disorder Virtual University describes the affected child as appearing fidgety or restless. This is definitely what you see if you watch Faith! She is constantly moving! The video below displays Faith with what I consider some mild chorea movement. Her movements can get much faster and much more intense leading to a great deal of agitation.

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As the neurologist told us, the word “chorea” comes from the Greek word for dance. The jerky movements of the feet or hands are often similar to dancing or piano playing. Faith often does appear like she is dancing with all of her excessive limb movement.

We talked with the doctor about how it seems that Faith’s movement has really gotten worse over the last year. She explained that babies tend to have chorea like movements anyway which is part of their typical development and that it is often when children are around 3-4 years old that chorea tends to get worse and more obvious. Faith is demonstrating chorea in her arms and legs for sure and we are also starting to see some movement in her tongue and mouth that she did not do in the past. Once again, more information that just leaves us with more questions. The typical causes of chorea just don’t seem to be the case with Faith. The simple answer and cause of Faith’s chorea is most likely the result of how Faith’s brain developed. Of course, we are still left with many concerns.

So, the plan right now is to work with medications to see if we can get the chorea under control or at least see some improvement. Faith’s leg movement seems to be the most problematic since it is causing her to injury herself. We are really hoping that we can get medications figured out to help our little girl be the most comfortable and functional as possible. If not, we may have to consider alternative options. Lots of decisions right now and things to think about but our ultimate goal is for Faith to be comfortable and happy so we are keeping that in mind as we make treatment decisions.

With the chorea and muscle tone issues, Faith continues to struggle in her car seat. Everyday travel is challenging in itself, but as we prepare to travel a longer distance going to the conference we appreciate prayers for a smooth trip for all of us. We are hoping that Faith will nap and stay as relaxed and comfortable as possible.

On a positive note, Faith is doing really well tasting and licking cold foods like popsicles and frozen yogurt. We aren’t making much progress with eating but she does seem more interested in tasting so that is where our focus is right now. She does much better when a spoon is not involved! Keeping things positive, productive, and safe! Click on the link below and then click the next link to view a video of Faith trying swiss cheese:

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Faith seemed really interested in the swiss cheese. I love seeing her interest but sometimes it is a little sad that she is not fully able to enjoy food. We continue to work on strengthening her oral muscles for speech and eating but progress has been minimal. Faith’s increased interest is definitely a step in the right direction!

Picture time!

 

Faith's "new to us"(donated) Tumbleform chair and tray. A huge help with positioning at home for Faith!

Faith’s “new to us”(donated)
Tumbleform chair and tray. A huge help with positioning at home for Faith!

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Faith can try to reach her music toys now! Check out her triceps! I guess one of the positives of her excessive extension if there is one!

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Fourth of July 2013

With each challenge comes an even greater love for our little girl. Faith is truly a blessing to us and to so many people in her life.

Keeping the faith,

Bridget


Happy Summer!

It is officially summer break for Faith. This is the first time in 3.5 years that she doesn’t have a regular full therapy schedule. She is going to get a little bit of a break but we are trying to keep her as engaged and stimulated as possible during her break with various activities as well as some therapy. I think Faith really enjoys school and I feel the consistency and routine of school is good for her so we will see how summer goes! Here are a few pics from this summer so far:

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Celebrating Daddy’s Day with ice cream!

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Happy girl at music class!

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Graeme enjoying a popsicle with his big sister!

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Popsicle time!

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Making silly sounds on her iPad!

Faith is staying healthy for the most part which we are always very thankful for! Our biggest challenge is still positioning and trying to control her excessive limb movement which is becoming more concerning as she is hurting herself. Faith is going to be seen at a movement disorder clinic soon and we are hoping that some beneficial next steps for addressing the movement issue will result from this appointment. We have done so many medication changes the past few months and are still trying to figure out what will help Faith to be the most comfortable and functional.We had to take her off the Sinemet due to side effects and she is back on Clonazepam. We have had more success with it this time but are still working on determining the most appropriate dosage for Faith.

We are hoping for some good results from some recent bloodwork. Faith’s IGF-1(Insulin-like growth factor) levels have been low which could be an indication that the growth hormone is not working. We increased her growth hormone dose to see if she just needed a higher dose. We are hoping that her levels are higher this time with the increased dose. If not, it could mean that her body is not responding to the growth hormone and new concerns will need to be discussed with her endocrinologist.

One of Faith’s new home activities is playing in balls. A big thanks to Stacy and Suzanne for donating the ball pit and balls! Faith is enjoying it! Check out the video:

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We will be heading to Chicago next month for the ICAN conference! I look forward to posting about our trip!

Happy Summer!

Keeping the faith,

Bridget


Run for Sight 2013 Wrap-up

A BIG thanks to all of you who supported Team Super Baby Faith this year and helped us raise money to benefit the Delta Gamma Center for Children with Visual Impairments!! We truly appreciate your support! Great job to all of you who came out and walked or ran with us despite the rainy weather. We are excited to say that we raised $1,455 to help children that are blind or visually impaired in the St. Louis area. We are very grateful to Doozle’s Frozen Custard for sponsoring our team this year!

Here are a few race day pics:

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Faith with her medals from mama and daddy!

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Little brother support!

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Super daddy modeling the front of our team shirts. Also, age group winner and 4th place overall! Great job!!

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Back of our team shirts

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Family Photo

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Faith all bundled up after her stroller ride for sight!

RUN FOR SIGHT 2014

SAVE THE DATE: SUNDAY, MAY 4TH

HOPE YOU CAN MAKE IT!!

Thanks, again!

Bridget


Spring Update

It is hard to believe that Faith’s first year of school is almost over! It seems like I just posted her first day of school pictures and now it is May and Faith’s regular school year ends this week! Faith had a great transition to school and has done very well. Faith will attend a short maintenance summer school program but then she will have quite a bit of time off from school over the summer. Since this is the first summer since she has been in the school system, we are trying to figure out a plan to make sure Faith gets what she needs over the summer break. We are looking into different options for OT, PT, and speech. Faith will continue music class, horse therapy, and water therapy over the summer so we will determine what is going to be her greatest need for additional therapy. I will also be working with her at home as much as possible. Of course,  just keeping up with the basic needs of both kids is a challenge in itself so we will see how well that works out!

Faith seems to be getting stronger, healthier, and more resilient as time goes on! She had a great winter in terms of staying healthy. We had a few illnesses and ER visits but nothing that required hospitalization. We are very grateful that we have been able to manage Faith’s care at home when she has been sick and that she is staying healthier more than ever before!

One of our biggest challenges right now with Faith continues to be her muscle tone and excessive limb movements. We have been trying new medications and doing lots of brainstorming on how to adjust things to help her. The clonazepam did not seem to benefit her so we just weaned her from that. We started a new medication called carbidopa/levodopa(Sinemet) and are slowly increasing the frequency of doses each week. This medication is often used in adults to treat Parkinson’s Disease and Restless Leg Syndrome. We are hoping that it will help control Faith’s excessive movement. The last several days and nights have been rough for Faith. Nights are worse than days it seems right now but overall she just does not seem comfortable. We got one good night mixed in between the rough ones when she was finally able to get some rest but then the agitation started right back up again. We are assuming that she is experiencing a common side effect of the medication which is stomach upset. It seems that she is probably having so much discomfort at night because she is hooked up for continuous tube feedings and the discomfort seems to be a lot worse when she has food in her stomach. So, we had to start ANOTHER medication to help with the side effect. We are going to give this medication some time to determine if it will benefit Faith. We are going to need to see pretty significant benefits in order to keep her on the medication and the additional medication to help with the side effect. Our goal with medications is always to give her only what is necessary and beneficial. Unfortunately, it sometimes takes quite a bit of trials.

We are really hoping that we can figure out a way to help Faith be more comfortable. It is very frustrating to see her uncomfortable and we feel so helpless at times. We have limited options for positioning which creates even more frustration for all of us. Faith can spend some time on the floor on her back or stomach but we have to be careful during tube feedings or when Faith is getting medications or water flushes due to reflux and the risk of aspiration. At the same time, she should have more options that are comfortable for her and we are trying very hard to figure that out right now. She should be able to sit in a modified chair or her kid kart without being miserable or hurting herself from all of the moving and kicking. Faith has made a lot of progress tolerating being on her stomach and seems the most comfortable at times on her stomach recently. Again, this is a limited position. Holding Faith is getting more difficult due to her excessive movement and at times it doesn’t even seem like she wants to be held.

The other downside to the muscle tone and excessive movement issue is that it is holding Faith from making progress in many areas. It is also exhausting for her and making sleep even more challenging. Even when she is sleeping lately, she just appears so restless.  We are remaining hopeful that the Sinemet will eventually work with the proper dosing and that as a result Faith will get more comfortable and have better control of her body. We are always grateful for all of Faith’s smiles but right now we aren’t seeing as many as we were. Just another obstacle to overcome on our journey!

With summer approaching, we are looking forward to our trip to Chicago for the ICAN conference in July and wish for a healthy and happy summer for us all!

Here are a few pics of Faith from this spring when she was doing really good! Enjoy her smile!!

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Keeping the faith,

Bridget

 

 

 

 

 

 


Faith makes an appearance on Show-Me St. Louis

Faith appeared on the Window on St. Louis portion of the Show-Me St. Louis TV show on KSDK Newschannel 5 this past week. Faith represented the Delta Gamma Center for Children with Visual Impairments and helped promote the upcoming Run for Sight that will benefit this invaluable organization that supports many families in the St. Louis area.

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Click here to view a video clip from the show

P.S.-You still have time to register for the walk/run!!

https://register.bazumedia.com/reg/form?eventID=2909


Roaring with Excitement

Thanks to the Wildwood Area Lion’s Club we will be Chicago bound this summer to attend the International Children’s Anophthalmia/Microphthalmia Network (ICAN) conference. The Lion’s Club presented us with a check at their last meeting to cover travel expenses and registration fees. We are so excited for the opportunity to reconnect with families we met at the last conference in Boston in 2011. We are also eager to have Faith re-evaluated by the genetics team as well as several other specialists. The conference will also provide new strategies and ideas for us to help Faith. We know that our time in Chicago for the conference will be so beneficial and encouraging for us.  A special thanks to Randy and Kay Ladd for helping us bring Faith’s story to the attention of their Lion’s Club. We are so blessed with the love and support they have for Faith and our family!

Here are a few pics from the meeting:

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Mike, Faith, and I with the Lion’s Club president

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Mike, Faith, and I with Randy and Kay Ladd

Keeping the faith,

Bridget


Great news for Team Super Baby Faith!

Run for Sight 2013 is just a little over 5 weeks away! You still have time to register! You can register for the race online at https://register.bazumedia.com/reg/form?eventID=2909 or contact me for a paper registration form. We have great team news! Doozle’s Frozen Custard is our new team sponsor and will be paying for the cost of team t-shirts. Team members-please contact me with your t-shirt sizes ASAP. If you are unable to participate but would like to make a donation to the Delta Gamma Center for Children with Visual Impairments, please go to http://www.crowdrise.com/TeamSuperBabyFaith/fundraiser/bridgetwildschuetz/join. Thanks so much for your support!

Keeping the faith,

Bridget


Meeting Merrywood

Faith recently started therapeutic horse back riding. Faith has a standing date with a pony named Merrywood every Thursday evening!   It has been such an incredible experience so far! The team of volunteers that is helping with Faith are all so great! They are really brainstorming and working hard to figure out what is going to work best to ensure the greatest success. Faith brings bananas, carrots, or apples each week for Merrywood. He definitely earns his treat!!

So, you want to know a bit more about therapeutic horse back riding? Here is a bit of info from the Jamestown New Horizons website. For more info, you can visit: http://www.jnh-goneriding.org

What is therapeutic riding?
Therapeutic riding has been around for Centuries – since the time of the Greeks and Romans. The organization of riding centers for people with disabilities started in Europe and Great Britain after World War II.  Victims of the war were helped greatly by riding horses – physically, mentally, and emotionally. Therapeutic riding was introduced in the United States in 1968. Every step that the horse takes challenges the rider’s balance and posture with infinite variation. Each movement is unique because the horse’s strides vary with the surface of the ground and the length of its stride. This infinite variation of movement simply cannot be duplicated with machines or other therapeutic equipment.

What are the benefits?
The horse rhythmically and naturally moves the rider’s body in a manner similar to the  human gait, improving posture, balance and  muscle tone. To a person who can’t walk, riding feels like walking. Joints are exercised, stiffness is decreased and coordination improves gradually as the rider progresses in skills.  The up and down, side to side, back and forth movement that comes from the horse’s back as it walks sends rotational movements through the rider’s pelvis and spine, exercising and strengthening the core muscles. The increased muscle strength and the mobilization of joints allow the rider to sit and stand more upright, resulting in improved posture and balance.

Here are a few photos that Mike took the first session. They aren’t too great because they were taken behind a glass window but you can at least see Faith on Merrywood.

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Faith has had a grin from ear to ear for the majority of the past two sessions! She seems to just love riding Merrywood! It is great to see her so happy doing something that has such great benefits! We are looking forward to many more meetings with Merrywood!

Keeping the faith,

Bridget


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