Life is not easy for Jacques, he has 48 XXYY Syndrome.
Academically, school is a struggle because of his attention deficit disorder, multiple learning disabilities and fine motor skill issues. An making friends is not so simple when your speech is not clear and you have trouble making complete sentences. Jacques also has PDD-NOS (an autism spectrum disorder) which makes it difficult for him to understand facial expressions, social cues and nuances.
This year our family will be walking the Walk a Mile in My Shoes in Chinguacousy Park, Brampton, benefiting the XXYY Project.
Often, walks will be for much longer distances, 5k, 10k sometimes even 20k, but for Jacques, walking one mile is an arduous task since he’s had surgery on both feet, suffers from low muscle tone, poor balance and overall coordination.
For guys with XXYY Syndrome, one mile is a very long walk indeed.
Jacques diagnosis at age three brought us much despair and sadness, but thanks to the XXYY Project, we now have hope and direction. On November 26th, 2011, we will be walking with four other families to raise awareness for the rare genetic disorder XXYY Syndrome, and raising funds for the XXYY Project to continue doing their great work of connecting families with each other and information which will help their sons reach their full potential.
Please sponsor Team Brampton here:
http://xxyysyndrome.org/walk.html
Its important that you note that donations made here are in US dollars, as the XXYY Project is a US based charity which serves families affected by XXYY Syndrome worldwide. You will only be allowed to declare any donations if you have US income declared on you Canadian income tax return.
If you’d prefer to sponsor us in person, rather than on the internet, just let me know: I am always carrying my pledge sheet so its no problem.
I am also asking you to help us spread the word on this rare disorder, since many guys go undiagnosed or misdiagnosed. Early interventions with this diagnosis are crucial, but even when diagnosed in the teen years or adulthood, appropriate medical care and interventions will help improve the quality of life these guys will experience. XXYY Syndrome occurs between 1 in 18,000 and 1 in 40,000 live male births. This means that there should be much more boys and men diagnosed with this disorder than the 7 families known in Ontario.
Boys and men with 48 XXYY Syndrome typically have some, but not all of the following symptoms:
- Developmental delays
- Speech impairment
- Tall, considering family history
- Behavior outbursts & mood swings
- Learning disabilities
- Intellectual impairment
- ADD symptoms
- Autism, autism spectrum, PDD-NOS
- Scoleosis and other skeletal anomalies
- Clinodactyly (Curved-in pinky fingers)
- Low muscle tone
- Flat feet
- Sterility
- Delayed sexual development
- Undescended testes
- Low or no testosterone
- Dental problems
- Leg ulcers
Please forward this to folks you know so that we can get the word out on this rare genetic disorder.
If the symptoms above sound like the fit your son or someone you know, see your doctor or pediatrician, and ask for genetic testing.
For more information on XXYY Syndrome, visit the XXYY Project website
http://xxyysyndrome.org/whatisxxyysyndrome.html
Having Jacques in my life has been a blessing. He has taught me patience, understanding and what true love is all about.
He has made me want to make a difference in other people’s lives, and want to change the world into a better place.
The Walk a Mile in My Shoes event, is one of the ways I can make that happen.
Damn I missed it again. Nice post, well balanced and informative.