MOSAIC MOMENTS

For the past 31 days I have had the opportunity to bring you stories about mosaic Down syndrome and Down syndrome. This has been really great fun for me and I have enjoyed meeting so many new friends!

If you are a parent of a child with mosaic Down syndrome, more than likely you are like I was when I scoured the libraries and book stores to find something that would tell me what mosaic Down syndrome meant for my son. Sadly, I never found a thing! So, I finally gave up and just tread along one day at a time.

Then, when Tim was 14 I co-founded IMDSA and began asking all those questions I had bottled up for all those years to anyone who would listen and some who wouldn’t! I have spoken with countless families, doctors, researchers, therapists, genetic counselors and scientists. Throughout these years, I have learned alot!

Last year, we published a special mosaic Down syndrome book. This is the ONLY book of its kind! The book is called Recipes for Research and what started out as a fun fundraiser for our families to get involved and share recipes with one another, became this incredible project!

Recipes for Research has page after page of valuable information, facts, FAQ’s and helpful tips on mosaic Down syndrome along with 200 recipes from throughout the world!

Back by popular demand, we are selling a limited edition of these books. (this will probably be the last time they will ever be in print!)

They make really fantastic holiday presents for every single person on your list! We have only bought 100 of these books, and they are already selling very fast! So, if you want a Recipes for Research book for yourself, your child’s teacher, grandma, aunt, sister, doctor, therapist or any special person in your life, order yours today before they sell out!

To find out more about the contents of this book and how to order your copy of Recipes for Research, just click here to go to our site!

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For the past month I have had the fantastic opportunity of bringing you stories about mosaic Down syndrome and Down syndrome in honor of Down Syndrome Awareness Month.

The majority of my stories have been about mosaic Down syndrome, with the exception of beautiful Beth who has trisomy 21 and the sad, yet thoughtful story about Dwight who passed away this month.

And then, of course I had to bring up news items since we were featured once again on This American Life.

I hadn’t kept up with how many stories I had written. I just dedicated myself to do it, in the spirit of blogging 31 for 21.

Then, yesterday as I counted them up a remarkable enlightenment occured!

For the month of October, I shared with you 21 different lives of individuals with MDS! Being that MDS happens in the 21st chromosome, I thought that that was really cool! I am a firm believer that NOTHING happens by coincidence, and I thought this was a really nice thing to happen without me even knowing it.

So, in honor of these 21 individuals with mosaic Down syndrome, I have made a video with them.

Diane… this is a tissue alert!! Don’t say I didn’t warn you! LOL

I want to thank all the families for sharing their lives with us this month! Each of you are very special families and I will always cherish this glimpse into your lives!

Photo and video editing at www.OneTrueMedia.com

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For this past month in honor of Down Syndrome Awareness Month, I have been bringing you stories of different individuals with Down syndrome and mosaic Down syndrome.

Today, I want to share with you one of my own “Mosaic Moments”

My son, Tim who has mosaic Down syndrome, ADHD, and Asperger syndrome (a form of Autism) is now 22 yrs old. When he was diagnosed with MDS and ADHD at 2 1/2 yrs old, I was told I should put him in an institution and forget about him. I was told he would be a major burden on me and my family. I was told he would never learn and that he would be totally dependant on me.

He has, time and again, proved them wrong.

Five years ago today,when he was 17, Tim managed something that will forever stay with me…

It was a Sunday afternoon and we were saying our goodbyes as we walked out of our tiny, wooden church. The preacher’s wife asked me what my plans were for the afternoon since it was my birthday. I told her I was looking forward to going to Walmart for the afternoon to get my weekly shopping done. (after all…a mom’s work is never done!)

So, I had it in my mind that we would go home, change clothes, have a quick lunch and be on our way. As I rushed around to get everyone’s lunch prepared, my husband stretched out on the couch with the intent for a nap. Tim, turned on a video game and began playing it. Garrett went into his room to play with his toys.

Needless to say… I GOT ANGRY!!!

I had plans and they did not include lying around the house for the day! But regardless of my plans, they were in no hurry to go shopping.

Finally, an hour later everyone slowly got moving and we were on our way.

Or, so I thought…

My husband, Glenn said we had to stop by the church first to help move something. This just added to my increasing frustration. But I obviously did not have a choice! “This” I thought, “is not the way I should be spending my birthday!”

When we pulled up to the church I had no intention in getting out of the car. After all…they were going to move something and then we could be on our way! But, Glenn said he wanted me to come in with him. So, begrudgingly I got out of the car and made my way up the sidewalk with my family trailing behind.

I opened the door and found the room full of people.

“Surprise!” they shouted

Not sure of what was going on, I thought “Wow! Don’t y’all feel dumb for saying surprise to wrong person!”

Then, as I looked around the room I realized the people in this room were not only from my church. These were people from throughout the community. Each of them were my closest friends!

Needless to say… I was confused!

My preacher’s wife saw my confusion and quickly explained.

For the past month, Tim planned this surprise party for me. He made the guest list and planned the time and place. He asked the adults to help get everything there for him, but it was his entire idea and my husband didn’t even know about it until a few days before!

Tim is truly an amazing young man and his compassion for me and others is so wonderful.

For this past month, Tim has been working long, hard hours building fences with my dad. With the money he earned he bought me two DVD’s and a CD and gave it to me today for my birthday. He is always doing special things like that for me.

I am very blessed to have all of my sons and each are so caring and compassionate and they make sure, each in their own way, to let me know how much they love me.

I have to think, “What would have happened if I had listened to his doctors and put him in an institution all those years ago?”

I know one thing for sure… They were wrong!

Having mosaic Down syndrome or Down syndrome is NOT the worse thing in the world to have. Individuals with this extra chromosome can learn and more importantly, they can teach you so much about life that you didn’t even know you needed to learn!

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It is well known that a portion of individuals who are diagnosed with Trisomy 21 Down syndrome, are misdiagnosed and actually have mosaic Down syndrome.

As I have stated before, IMDSA did an independent poll on how and when families received their diagnosis. Out of the 70 families polled, 15% were first diagnosed with Trisomy 21 Down syndrome and later were re-tested to find that they had mosaic Down syndrome.

In the story I am bringing you today, the Ortiz-Lane family is still waiting to do the retesting to get the true diagnosis for their son. It is apparent that he does more than likely have mosaic Down syndrome instead of Trisomy 21 Down syndrome, because of the different facial features and the strong muscle tone that he has shown early on.

Tommy’s mom Rosa is an incredible lady and after reading all the stories on Mosaic Moments, she has been inspired to begin her own blog story about Tommy to encourage others who are prenatally or postnatally diagnosed. You can read Rosa’s blog by clicking here.

The moment we found out that Tommy would have Down syndrome, we were very pro-active in the way we handled the news. We became members of the local Down syndrome association the day that we got the results. I invented my own prenatal stimulation program because I couldn’t wait until he was born to do something. I told my self, “You know what! There are too many things to get ready for the arrival of my son.”

I went to shop for baby books, beautiful baby clothes, cute hats, the prefect outfit for leaving the hospital, and everything anyone else would do when preparing for their baby. I spent a lot of time choosing the best educational and stimulating toys, including toys to strength my baby’s muscles. I had the happiest pregnancy because I didn’t have morning sickness or complications. I truly enjoyed my pregnancy!

Tommy was born on March 16, 2008. He has accomplished all of his milestones at the same pace of typical kids and some of them a little bit earlier. At birth, he did not have low muscle tone and was able to hold his head up at just 2 days old! He began rolling over just days before he turned one month old and has been rolling ever since! Now, at seven months old he is able to sit alone for a while and is continuing to strengthen his muscles.

To read Tommy’s story “in his own words” click here.

Tommy is an adorable baby and he brings my husband and I so much joy and happiness! I think the mission of my son in this world is to unify people because he did when he was an unborn baby. The exact moment he was born, there were so many people praying for him.

Nobody can predict how our kids are going to be. We can just love, stimulate and encourage them to reach their goals and they will become amazing people. We don’t know what the future grants for Tommy, but we know that he will go beyond our expectations.

Make a Smilebox scrapbook

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Scott has mosaic Down syndrome. Today is Scott’s birthday. At least, that is what I had in my mind! His birthday is October 26. And, today, for me, it is October 26. However, Scott lives in Australia, so actually, his birthday was yesterday! Scott turned 11 this year.

Scott’s mom, Lisa is the only existing co-founder on our Board of Directors (other than myself) of International Mosaic Down Syndrome Association. Through the wonderful power of the Internet, Lisa and I have watched each other’s children grow over these past eight years and along the way we have built a wonderful organization for families and individuals with mosaic Down syndrome.

This past year, Scott was accepted in his school cricket team. Out of the 800 students in his school he was chosen to be part of this team! Scott had a great time and this was a tremendous honor for him!

Scott is also part of a dance team! He does a great job and is one lucky boy being surrounded by so many beautiful young girls in his routine!

Scott and his sister Emily are typical siblings. They argue about things, but for the most part they love each other and have a good time together.

Scott loves swimming!

Scott is an AMAZING young man! He has accomplished so many things in these past 11 yrs and I credit it to his great parents Lisa and Dave for all the support and love they have given him!

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HAPPY BIRTHDAY SCOTT!!!!  

I hope this is your best year yet!

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In every single book, article, website or piece of paper you read, you will read that there are Three types of Down syndrome.  

Hannah was born April 11, 2000 weighing in at 9 lb and 20 1/2 inches long. She developed and hit all milestones at a typical level. She did have projectile vomiting along with constipation issues however these were addressed as allergies and add more fiber or water less iron less lactose etc….. she started getting ill with every virus cold flu and cough around December ‘02′/ January ‘03′ and I noticed a Cobalt Blue color bruise on her right shin, when I questioned that  I was told wait a month and watch it… when I questioned her illnesses–well it could be this or that…. while she was ill she complained of severe leg pains and cried to walk or play stumbling at times, she was pale and so on…

March 27, 2003 she was diagnosed with Leukemia a rare form (Myelodysplastic Syndrome) and admitted to Children’s Hospital of Pittsburgh. During her initial high dosed chemotherapy it was discovered she had a chromosome translocation ( small parts of her #1 and #19 switched places) as well as trisomy 21 with monosomy 7. At the time we had  no clue she had these abnormalities or extra cells. Further testing showed she had a mosaic Down syndrome, this was effecting about 5-10% of her cells, she was never diagnosed before or after her birth with any of these until her leukemia diagnosis in 2003.

This new diagnosis did change the course of treatments for her leukemia, they took her off the transplant list and did straight chemotherapy over the next several months until December 21, 2003 when she finished treatments and December 31, 2003 she had her last platelet and blood transfusions reaching full and complete remission January 21, 2004. She has had her tonsils and adenoids (partial adenoidectomy) removed since then in February 2007.

IMDSA President, Kristy Colvin with Hannah Hannum and her mom Holly at IMDSA’s 07 Conference

Back in 1999, as a parent of a child with mosaic Down syndrome, I was searching the Internet for someone to connect with. Tim was 13 yrs old, and I had never met another person with mosaic Down syndrome, so I didn’t really have a lot of hope that I would! But, much to my surprise, a new website had just been formed for mosaic Down syndrome called Mosaic Down Syndrome on the Web.  From the birth of this site, became our online support group and by 2001 we were forming IMDSA!

Because of all of this, I have had the opportunity to meet many families and find those connections that I was looking for all those years ago.

The Benoit family is one to those lasting friendships that I will always treasure! John and Darlene are great folks and their children Jacob and Rachel are just delightful! I think Darlene’s story is very interesting and inspiring and Rachel is such a beautiful little girl!

I had a high triple screen when I was pregnant, but had a level 2 ultra sound instead of a amnio due to risk of losing the baby - it was 2% chance of losing the baby as opposed to a 1% chance of having a child with Down syndrome and it did not matter–we were keeping the baby.  The Level 2 did not find anything wrong.  And when my daughter was born in 1999, I asked if she had Down syndrome as I had the high triple screen - they “the doctors” told me know she is a beautiful baby girl - well they were right about that part she is gorgeous (if I do say so myself ;-) 

At 4 months I saw another pediatrician in the practice who was not my regular one.  She asked me if my husband was Asian.  I said no - French/American Indian.  She said Rachel had low tone in her trunk and “Asian” eyes which could be a sign of Down syndrome - we would wait and see if any delays developed.  Well, I am a type A personality and I am not about to “wait and see” anything.  I immediately went to my pediatrician and asked her to confirm or deny it.  She looked at Rachel and said - “I can’t tell, we have to do the blood work.”  We did the blood work, which took almost 2 months. 

At 6 months she received the diagnosis of MDS.  IMDSA did not exist at that time (Back in 1999).   Shortly after getting the diagnosis she got very sick.  We went to the doctors office and they said it was a cold and suck out the mucus with this ball thing.  We did that, but she seemed to be getting worse - very listless and would half-heartedly nurse and let the milk run out of her mouth.  We went back to the doctors that afternoon and while we were there she stopped breathing in the doctors office.  The doctor walked in the room and immediately walked out without saying anything.  Came back in with an oxygen mask and told us that Rachel wasn’t breathing. She said that she called 911 and we would be going to the hospital with her.  We took a ride in an ambulance to a local hospital who stabilized her and then another one through rush hour traffic to Children’s Hospital in Philadelphia (CHOP).  You would NOT believe the people who would not pull over for an ambulance in rush hour - and I thought all kinds of bad thoughts about them as I worried about my child making this trip.

Rachel ended up spending 2 weeks at CHOP.  As I lay with her in the room, I was thinking “If this child dies, my husband and I would have another girl, and she would be perfect”  But I began to think, what if we couldn’t have another child?  What if we did and there was something else “wrong”?  What if she did not have a limb?  Would she be as loving as Rachel?  Would she be as good a baby - Rachel was the PERFECT baby!  

That week on the PICU (Pediatric Intensive Care Unit) - over half the children died - there were 44 children on the PICU.  The wailing I heard was heart wrenching!  I came to terms with the MDS (my child was alive!) which was very beneficial to me especially since not 2 years later my “perfect” son would be diagnosed on the Autism Spectrum. 

When Rachel was young, she would vomit in the middle of the night about once a month - and it was weird, I would wake her up and she was covered and it was all over her crib.  She would get sick and go back to sleep in it - I thought it was odd and we mentioned it to the doctor - and she told us - it was just reflux.  But then one morning and I went in and there was undigested green beans on her bed - (Being a type A, I have a calendar to write down what we eat for dinner) - I looked on the calendar and saw that we had not had green beans in over 3 weeks!  We brought this information to the doctor and she sent us to a GI specialist who did a Barium Swallow test (my doctor did not want to make her do as it would make her uncomfortable).  She did the test and we saw that she had a partial blockage at the top of her small intestine - the food would go into her stomach and get caught in the webbing on top of her small intestine - liquids passed but not solids.  It was called a duodenal webbing.  She had the surgery to put in a bypass shortly thereafter (at 3)!  So from the time she was eating solid foods until she was 3 all the food sat at the top of her small intestine until she vomited it up.  Think of how uncomfortable she was!

Whenever she has a cold and she starts coughing or has a runny nose, I take her to the doctor and the doctor does an X-Ray because she can’t tell how sick Rachel is by her behavior - Rachel can have pneumonia and still be active, not listless.  So you have no idea how many times I have had her go to school and she comes home and goes to the doctor and it turns out she has pneumonia.  We have a nebulizer to help break up the mucus when she starts to come down with a cold and it helps. 

Rachel and Tim dancing at 2004 IMDSA conference

When she was 8 we got a new puppy and she loves the puppy and he loves her.  Unfortunately, he thought she was his personal chew toy and put many holes in her clothes.  One spring day she got poison ivy.  I put calamine lotion on it and sent her to school.  School called me at 9:00 am saying I need to come and pick up Rachel,  her arm is all inflamed.  I said - I know she has poison ivy and I calamine on it - they said I see where you put the calamine but this is up to her shoulder.  So I went to school and sure enough her arm was bright red from shoulder to elbow and really HOT.  I brought her to my doctor and she gave me antibiotics and sent me home.  I gave Rachel the antibiotics but she could not keep them down.  So I called the doctor again and the doctor told me to take Rachel to the emergency room.  When I took her to the emergency room, that hospital did not have equipment that was small enough for her so they determined that she needed IV antibiotics and she needed to be monitored overnight and they do not accept children.  So we took another ambulance ride to CHOP and she was there for 4 days.  Turns out the puppy scratched her in her poison ivy and the poison ivy got into her blood stream and caused sepsis. 

Later that year, she told me her heart hurt.  When she complains about something I am going to have it checked out.  Rachel had just started talking and she had never complained.  So I took her to a Cardiologist.  They did an EKG and an echo cardiogram.  The EKG showed nothing.  The echo showed 3 holes in her heart!   The largest one was already closed (it closed on its own) - the second was what they call a silent PDA - apparently everyone has a PDA and they close after we are born.  Rachel’s never closed but because it was silent no one ever knew about it and the only way to see it is an echo.  So at 8 (in 2nd grade) Rachel had surgery on her heart to fix the silent PDA - the other hole is a small pin hole and they said it is too small to worry about.  The cardiologist said that Rachel probably had heart burn as the PDA should not have caused her any pain.  But it caused us to look at her heart - which was a good thing - thank God for heartburn.

Rachel is in a regular 3rd grade classroom with learning support for Language Arts and Math  - She loves reading and reads at a 1st grade level and hates math and her math is at a 1st grade level too.  Rachel did not talk until 2nd grade so her teachers did not have any means to test her on the information she knew - so she missed 2 years of school - I hope to have her caught up to grade level by 5th grade - but it all depends on Rachel and if she is willing to do the extra work that I am giving her.  

Rachel is a typical girl who has crushes and loves the idea of being in love - right now she is in love with Joe Jonas.  Rachel either loves something or she hates it.  She only has strong feelings she doesn’t just like something or not like something. 

Rachel teaches me more and more every day - how NOT to be a type A - how life does not live on MY schedule - how patience is a VIRTUE (One that I NEVER had).  She is a blessing and she confounds her doctors more than she knows (her file is more than 4 inches thick).  She is a trooper and has multiple surgeries without a complaint - but complains LOUDLY for a sliver.  I love her so much and she is the light of my life - I could not imagine life without her - it could be easier but not any better.

 
Darlene - mom to Jacob (11) - future Packers quarterback and Rachel (9) - the rock star princess

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Yesterday I received a beautiful gift in the mail from Karen Evershed. Karen and my dear friend, Nina Fuller have come together recently to bring a fantastic reading program for those with Down syndrome called “I Can Read, Too”. They also developed a very special website called “Moms for Moms”. This is a great site for moms to come and talk with one another and get great inspirations and share experiences.

The gift I received from Karen was a beautiful necklace called the “Mother’s Affirmation Necklace”

The necklace is just beautiful and you can choose the rings to say “Faith & Believe” or “Faith & Hope” They have four different designs and each comes with the beautiful poem that Karen’s daughter Robyn wrote herself titled, “A Mother’s Love”.

The proceeds of this necklace help fund their Workshop Outreach Program, so they can bring the “I Can Read Too” program to everyone and keep the costs down as well.

Karen and Nina will be presenting this, and other workshops at our 09 conference in Ohio!

I invite you to visit their website and see the beautiful necklaces, read about their reading program and visit Moms 4 Moms! You can do all that by clicking here.

Today, I have the great opportunity to share with you Ricky’s story! Ricky is a real cutie and you can tell by his smile that he has a great personality and he sounds a lot like my Tim when he was that age! You can tell by hearing his mom, Mary, tell the story of her son, she treasures bed time hours when Ricky finally falls asleep and she can put her feet up for just a moment but also treasures each wonderful waking moment she has with him. Ricky has accomplished so much in his short five years and looking at his smile you can tell he is full of curiosity, like any five year old boy is, and he is having a great time no matter what he does!

Ricky was born with mosaic Down syndrome and XYY Syndrome. At age 11 months, Ricky underwent ASD/VSD repair and came through it with flying colors! He spent only two days in recovery at the hospital at which time he went home on a minimal Lasix dosage. Within that week, he discontinued his Lasix and the baby who was such a calm, quiet cuddler transformed into a toddler who hit the ground crawling at full speed. Since that day, he has stopped only to eat and sleep. Occasionally, Ricky will fall ill. Usually, Ricky’s illness requires hospitalization for a day or two and/or IV re-hydration. However, upon returning home, Ricky’s wheels are a’ rarin’ to go!

Ricky’s typical recipe for play: dirt, outdoors, his thumb and “the squat” (from which he can transition directly to standing using only his leg muscles).

Always with a smile, Ricky attends PPCD which is a blend of Kinder and Pre-K course work. He rides the bus each day to and from school and he plays very well with his peers. Just last week, I had an ARD/IEP meeting with his teachers, therapists and administrators. He is doing very well, progressing nicely and has begun to speak using 2 and 3 word sentences. He is following directions reasonably well and has even begun to jump! Yesterday, Ricky spelled his own name verbally and we are just ecstatic! This ”Little Man” has blessed every aspect of our lives and we love him so much.

Ricky and his big sister, Michaela love each other very much! These two are like peas and carrots. They simply “go” together.

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Josh’s story is a true inspiration to so many who have children with Down syndrome, mosaic Down syndrome, or any special need.  

Josh’s mom, Lyn joined IMDSA a while back and I have enjoyed talking with her and learning more about Josh. Josh has mosaic Down syndrome, however, he was one of those who was first diagnosed with Trisomy 21 Down syndrome until he was 12 yrs old. He is an amazing man and knowing all the obstacles that he and his family faced 30 odd years ago, I think he has done an awful lot considering the changes that have taken place over these past 30 years for those with Down syndrome and other special needs.

Josh is proof that an extra chromosome doesn’t give you DISabilities, but instead his extra chromosomes give him MORE abilities!

Josh and girlfriend Mindy

Born in 1976, we were told not to become attached to Josh and put him in an institution because he would never become much of anything. That still haunts me to this day and Josh is 32 years old. As a special education teacher, age 25 when I had him, I sort of knew what to expect. My husband is also a teacher and we were and still are a very strong team.

Beginning with Early Intervention and preschool at age 3, Josh had a good start. Josh has a brother, two years older and a sister, three years younger. Both of them have been a tremendous help with Josh in teaching him how to play and do everyday expected things. Josh walked at 14 months and was potty-trained at 3 ½ years of age.

Josh’s Family 
Uncle Tom, Dad Jim, cousin Zach, Mom Lyn, brother Todd, sister-in-law Jenny, Aunt Melanie, Josh and Mindy

Josh attended a Special Education Center for all of his education for which we were very pleased and grateful. He had speech therapy up until he was about age 10.

We provided him with voice lessons at a local college, then he participated in a singing group, Energy, for about 6 years. They were comprised of “regular kids” and “disabled kids”. They got to sing all over the state, at the capital, the state Farm Show and a Phillies game. Those were fun years.

As he grew up, he was able, through the Office of Vocational Rehabilitation and Goodwill Industries to get a job with a job coach at our local super market as a bagger. That was in 1994. He is still working there, he loves the job and they love him. He calls for his schedule every week and then calls and sets up his own transportation for the next week.

Josh and girlfriend Mindy

Josh is also very active in Special Olympics, Pennsylvania. He has done soccer, swimming. Now he bowls, does cross-country skiing and Bocce ball. He is also Schuylkill County’s Global Messenger. He was trained on how to speak in front of crowds and, boy has he done that! From the local Lions and Kiwanis clubs, to the PA. House of Representatives, to a banquet at Penn State with Joe Paterno, to stomping on Capitol Hill in Washington for money for Special Olympics. Josh and Tim Shriver are good buddies now.

Josh has achieved so much more than we ever could have anticipated. He loves life, loves his family, and oh yes, loves his girlfriend of 4 years, Mindy. Having a son with mosaic Down Syndrome has been a wonderful ride that has included happy times, tears, family discussions and a brother and sister that really love him.

Josh and girlfriend Mindy

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