When my son Dustin was diagnosed, there was only 104 known cases world wide. He was 13 years old. I have found myself wishing they had known about this sooner. When Dustin was born, he had respiratory problems, and jaundice but was otherwise a normal 8 lb. 12 Oz. bundle of fighting baby. The doctor commented about his toes in the NICU, but as it was 1993 and Phelan McDermid Syndrome was yet to be discovered, he saw no need for alarm. I watched my baby grow.. He reached several milestones early.... Rolling over, holding his own bottle... Things like that. The only thing was, he absolutely hated being held and would not hold his head up when you held him. I would bruise on my arms from the weight of him forcing his head back. He continued to grow and would do things such as reprogram the VCR with the remote.  And he knew if we took out the batteries. He would look at it and toss it in the floor.  

The first 3 years went by quickly... He started showing signs of physical delay around 1. The soft spot on his head fuzed early, but we were told not to be concerned. Around 2 years of age, we started PT. He wasn't walking and would not put weight on his legs. He rolled and commando crawled everywhere. He said a few words and smiled a lot. When age 3 came, he changed almost over night. He stopped talking, stopped smiling and became aggressive. He was diagnosed as severely mentally impaired at that time.

Around age 5, he was diagnosed as autistic. We went to several specialists because he also started swallowing air... A condition later called aerophesia. This caused him distress and he would get pneumonia several times a year. Dustin still was not walking and he showed no signs of communication. After 2 muscle biopsies and a nerve conductor test, cerebral palsy was ruled out. The doctors were stumped. A major part of his cerebellum was just not there. It was mostly fluid. I kept working with him and pressed on, desperately trying to find answers. My baby had turned into a shell of what he once was.

Around 8, he started putting weight on his legs and would walk with assistance. One day, at age 10, he decided to get up and walk across the room on his own. I was elated!! At around age 13, his health started improving. The placement of a Gtube helped so much. We had a portal to release the air and that stopped the pneumonia and bowel obstructions. It was also at age 13, that a gastrointerologist asked to perform a test to see if Dustin had a chromosomal deletion. He had read about a condition called deletion 22 1.3. Within a week, we finally had our answer.

After 13 years, we finally had something to tell people... A reason for Dustin's delays. His spine started showing signs of scoliosis when he was around 12 or 13. His PT regimen was adjusted. He started showing signs of communicating through object association. Dustin would not chew any food so everything had to be pureed. He still doesn't chew at age 23. He wears diapers. His scoliosis has become severe... But Dustin "the fighter" is still walking.

I have been told so many times that he wouldn't survive to certain ages.... And he surpassed them all. Now, with the worsening of his scoliosis, we have once again been given a time limit on his life. It is getting hard for him to breathe at times and he appears to be in pain. We still get up and make him get around. I refuse to let him just lay in bed and quit. In spite of everything... I wouldn't change a moment with Dustin. He has enriched my life... Taught me patience, understanding and acceptance. I love him with everything that I have. He has a brother with no abnormalities and a sister with mild Asperger Syndrome.

I am telling you all this, because this is a story of hope... Perseverance and love. Never give up the fight for answers. You are your child's biggest advocate. Ask questions.... And by all means, tell your child's story. You could be the link to helping another parent find their answers. I know how hard the years of not knowing was.


Tomorrow, February 29, is World Rare Disease Day. This day is new to our family. We wanted to share our story about Benjamin to get the word out about his extremely rare condition. On Thursday, January 21st we received a phone call from Ben's geneticist. Benjamin underwent microarray genetic testing. His doctor thought this was a way to rule out anything serious, however the results were definitely not what we expected. Benjamin was diagnosed with Phelan McDermid Syndrome or 22q13 Deletion Syndrome, a rare genetic occurrence and is the result of a damaged or missing protein on the 22nd chromosome (Shank3).

Defects of the SHANK3 gene are highly associated with autism. Individuals with Phelan-McDermid Syndrome often have autism or autism spectrum disorders. Most children with PMS have moderate to severe delays and often do not develop functional language. Infants with medium to large chromosomal deletions may have very low muscle tone, poor motor control, and problems with eating and sleeping. Behavioral issues may stem from autism (e.g., repetitive behaviors), and poor communications skills.

Our family has been welcomed into the Phelan McDermid community with open arms. We continue to learn more information on a daily basis. Eli and I know that Benjamin is going to have a different life than we had imagined. We will encourage all of his triumphs and surround him with loving family and supportive friends. Next month he will be 2 years old. He's not yet walking or talking, but continues five therapies on a weekly basis to help him improve and grow developmentally.

There are only 1300 reported cases of Phelan McDermid syndrome in the world. Our family had a better chance of winning the Powerball than Ben having this rare syndrome. As a parent, I ask that when you see a child, no matter the age, that you don't ask questions like "does he walk?" "How old is he?" "Does he talk?" As Ben's mom these questions hurt. Remember to be accepting of all human beings. All we want is for Ben to be treated equally and loved. ‪#‎phelanmcdermidsyndrome‬ ‪#‎rarediseaseday‬ ‪#‎bigben


Post below can be found on E's mom's blog.  Special thanks for her for permission to repost here.

"Oh my! Look at those long eyelashes!" When anyone first sees E, they always, always comment on her long, beautiful eyelashes. I've always taken a silly pride in them, seeing them as markers of her health.

However, on the day we received her diagnosis of Phelan-McDermid Syndrome, we were handed a list of probable symptoms; "long eyelashes" were listed. How in the world can long eyelashes be a symptom? How can something so beautiful be an indicator of such a difficult syndrome?

So, on a daily basis I am faced with a choice (pun intended). When I look into E's eyes, I can either see beauty... or a syndrome. I can notice how the lashes perfectly frame her crinkled eyes as she smiles and giggle when there are specs of food in them... Or I can notice Phelan and McDermid. Seeing Phelan-McDermid brings to mind all that may await us: aggressive behavior, seizures, no verbal communication, incontinence... the ugly truths of what the syndrome brings. Or. Or. Or. I have a choice to focus on the beauty. I MUST choose to focus on the beauty.

So, when I set about to memorize her sweet face I will spend extra time on her eyes. On their mischievous glimmer, the way they widen in surprise during peek-a-boo and the way they flutter closed as she finds comfort in my arms in the middle of the night... and I will especially memorize each beautiful, purposeful lash.

May you choose to see beauty today, friend.


The post below was beautifully and eloquently written by Chase's Mom, Annie Johnson Kuehl, and shared with her permission, as are all of the posts here.

Finally ready...Chase’s Diagnosis:

So many of you have been reading about our journey with Chase this past year.  It’s been bumpy.  Along the way we have always known that he is extremely special.  Mind blowingly special.  Our most recent trip to the hospital was due to a 45 minute seizure on 1/6/2012.  There were many tests that happened in the days following, all came back normal except two.  We knew his EEG and his MRI were abnormal.  So we were getting used to the idea that there was more to his delays, seizures and medical issues than we thought.  We were at one of many follow up appointments last week when we found out the news.  We were meeting with a genetic counselor and a dysmorphologist.  They pointed out some abnormal features on Chase that would probably go unnoticed to most people but that clearly indicated to them that there was something genetic going on.  While we were in their office trying to solve the mystery together, the lab called with test results on his dna.  There was a significant deletion on his 22nd chromosome.  This knocked the wind out of me. Especially as I saw how interested and intrigued the geneticists were.  The deletion pointed to Phelan-McDermid Syndrome.  A very rare genetic disorder.  With somewhere between 400-600 diagnosed cases in the world. But we do have a diagnosis. Some people never get one.

As anyone can imagine... we were shocked.  And we’ve gone through every emotion in the past week.  This will change our lives.  We will need to learn how to provide for Chase in a way we are completely unfamiliar with.  We will need to find additional resources to help us do so.  We will need to learn everything we can about this rare disorder and teach doctors, therapists, family and friends all about it.

It also will change our lives in a way I didn’t think about at first.  This was meant to happen.  To us and to Chase.  We will learn to love and communicate in different ways.  To set goals but to also not set limits.  To tolerate and teach.  And to celebrate every moment we can.  We ultimately have a choice on how to feel at any given moment.  I know that hard times may lay ahead but so do good times.  Just like in everyone else’s world.  We always have a choice to be positive and happy.  I’m trying to follow that and I’m learning hour by hour.

We are always in need of support, advice, prayers and friendship.  If there is any information or kind words that you think will benefit us in any way, please do not hesitate to pass it on.

Ultimately, we will be the very best family we can to Chase.  He’s in good hands but it will take more than us to give him the best life he can have.  Thank you to all our friends and family for being with us through it all. We can feel the love.

Lastly, I am attaching some links in regards to Phelan McDermid Syndrome.  Awareness is essential.  Ask me any questions that you may have.  I will not filter information about this disorder.  This is a learning experience for everyone.  And stay tuned….there will be many updates along the way!


Thank you to Vicki Benton, Jonathon's mommy, for bravely sharing her post below.  (written c. January 2003) 


I always knew that my life would truly begin and end the day I would give birth to my first child.  My life as a carefree young woman would end, but it didn't scare me because my life as a mother would begin.  I always wanted kids and knew the kind of mother I wanted to be, I had fantastic teachers with my own parents.  

After a long, hard labor he came into the world tiny and alien-looking, a cute alien who only weighed 4 lbs.  But it was okay, he was a baby, I had this.  It was love at first sight but the old adage is wrong, love is not blind.  I knew something was "off".  No one would listen.

For over three years I told any doctor who would see us that something was wrong, they wouldn't listen until one day, a day I'll never forget.  Someone finally listened, told me I wasn't crazy and ordered "one more test", but she wouldn't tell me what she was testing for.  For three long months I waited for results but nothing could prepare me for the call that came.  "I need to see you, immediately", no small feat since it took two hours to get to her office.  Once I got there, she said "he has Phelan-McDermid Syndrome and it is rare".

She then explained to me what it is and how much they didn't know about it and that she couldn't tell me what to expect for the life of my child.  I listened, asked questions, and maintained my composure through the hour she had set aside just for me.  I think I was in shock, to tell you the truth.  My son and I walked to the car, I buckled him in all snug and he smiled at me.  At that moment, I broke.  I cried and I screamed and I truly believe that part of me died.  I cried hysterically the entire way home, not very safe in hindsight.  

I didn't talk to anyone for days.  Then I woke one morning and I WAS FURIOUS.  Nothing was fair, no one understood, but I vowed that I would make them understand.  Here was my little boy, the love of my life, my reason for living, and he needed me.  I would be everything to him, for him, and if people didn't like it, tough.  And for the last 13 years, since his diagnosis, that's exactly what I've done.  

The part of me that died has never been revived, but other parts of me have surged with a life force that only having a special needs child can do.  I found a strength I never knew was possible, a version of unconditional love that is only felt by others like me, a sense of fear that is so intense that it keeps me awake some nights, and a deep, deep grief for all that will never be for this sweet angel of mine.  And although I would give my life to make it better for him, I also wouldn't change a hair on his sweet, innocent head.

My biggest fear of all, though, is that he doesn't know how incredibly much I love him.  My biggest wish is that he does.


Email below was sent to our friends and family.  I fully realize that it's a lot of information - but this is the condensed version of what I went through the morning the doctor informed us of our son's syndrome.

September 30, 2014

Dear Friends & Family,

Darus has been diagnosed with Phelan McDermid Syndrome (22q13).  Jonas and I met with our UCLA geneticist, Dr. Barbara Crandall, this morning and learned the following:

Darus’ case is rare and different than the majority cases of PMS because of a change/mutation (not deletion) in the base of the SHANK3 gene on the 22nd chromosome.  It is heterozygous.  It is de novo – Jonas nor I are carriers.  The geneticist believes that this happened in either the egg or the sperm – preconception.  This would not have been detected w/ an amnio nor a cvs test because there was no chromosomal change.  The chromosome microarray that was performed in March 2013 did not pick this up for that same reason.  We learned of this variant mutation via WES (whole exome sequencing) trio.

“The c.4065_4066delTG variant represents a deletion of two nucleotides resulting in a frame-shift and premature termination of the SHANK3 gene.  This variant has not been previously observed in the general population.  Phelan-McDermid syndrome is typically associated with terminal deletions of 22q13.3 encompassing the SHANK3 gene.”

Dr. Crandall seemed eager to point out that Darus does not present with many of the characteristics that typically accompany PMS.  She, however, could not confirm our hope that perhaps his case is/will be more mild than a more typical PMS case.

The SHANK3 gene has gotten a lot of attention recently, as scientists believe it could be connected to autism.  Given all of the autism research currently underway, this is encouraging to me.

There is an exploratory clinical trial that involves using intranasal insulin that has been proven to help typical PMS kids (those w/ the deletion not mutation).  There is a child right now, that has the same dx as Darus (mutation not deletion), that is going to start this trial.  We’ve asked to be connected to his/her parents.  I’m hopeful they will be open to speaking with us about their experience(s).

I’ve registered Darus w/ the Phelan McDermid Syndrome Foundation.  I’ve also connected with a few groups online that I hope will be able to guide us down this new path.  Last, but not least, there is a conference in Washington DC in November that is going to address the SHANK3 gene, and I hope to attend.

Overall, we're doing okay.  It's a lot to take in/absorb/process, but it's nice to finally have answers and a better understanding of our sweet boy.

If you have any questions/advice/words of wisdom, please don't hesitate to send them my way.  This has been and will continue to be a learning curve for us.

Thank you all very much for your support,

With love & gratitude,