22q Deletion Syndrome (DiGeorge Syndrome) is rare and difficult to diagnose because the symptoms and manifestations of it are so varied. But in some ways, the early years of that diagnosis, which you can read about at What is 22q Deletion Syndrome, were the easiest. There was no warning about how things would get more difficult when Alisha reached adulthood. We were never told that the struggles and the fight to stay healthy would only grow more intense.
A child with 22q Deletion Syndrome has to overcome many obstacles. Multiple surgeries are required to correct heart defects and the partial formation of a cleft palate. This is followed by therapies and intervention to help the child reach their full developmental capacity, which is below average. A weakened immune system makes them more susceptible to getting sick and they tire more easily than most. And no one warns you to watch out for bullies who would try to break that child’s spirit.
If there’s little known about 22q Deletion Syndrome as a whole, then there’s even less known about what it looks like in adulthood. The reality is that doctors haven’t had much opportunity to study it in adults because many don’t make it past childhood. But thankfully that is beginning to change and there are some excellent resources now available to families dealing with it.
Perhaps the most important thing for people to know about adults with 22q is that it’s a whole package deal. You cannot separate the mind from the body. You could say the mind affects the body affects the mind affects the body. Only perhaps it’s better to say it this way: the weakened mind affects the weakened body affects the weakened mind. In many ways, adults with 22q are living in an aged body with a young child’s mind. That mind processes the world around them in a unique way.
Caring for 22q patients requires a panel of experts working together. Places like the Children’s Hospital at Montefiore (CHAM) in the Bronx and the Children’s Hospital of Philadelphia (CHOP) have done exactly that. The medical teams at these facilities include geneticists, cardiologists, immunologists, rheumatologists, speech and language therapists, endocrinologists, gastroenterologists, otolaryngologists, psychiatrists, and surgeons. A patient may see any or all of the specialists – they need ALL of these specialists. Alisha had a planned visit to CHAM in March but it was canceled due to the coronavirus pandemic. In the near future, we will make the trip and get her appointments with these experts.
While doctor visits are frequent, they don’t encompass all of life, and there are resources to help with the day-to-day too. Things like holding a job, having your own place, managing your own finances, managing your appointments and medications, and shopping for and preparing your own meals are unrealistic. Support is required consistently and constantly for simple tasks. For this, the Office for People with Developmental Disabilities (OPWDD) has been instrumental in our own family’s experience. This program allows Alisha to have some control over her life goals and provides the funding necessary to help her experience the best possible life.
As our family continues to navigate these waters with our own 22QTie, the support of these programs and professionals is essential. Alisha spends several weeks battling one thing, feels better for a week or two, and then starts the next battle. It’s exhausting. Her body is constantly in defense mode and it wears her out, making her weaker to fight the next issue. As seniors, our parents are caring for a child whose demands on them are constant, much like an infant. As sisters, Cassie and I do everything we can to help and support them while caring for our own families, and that too can be challenging. But we act as a team and continue to care and fight for Alisha.
The proverb, “The squeaky wheel gets the grease,” comes to mind often. People aren’t aware of problems that aren’t voiced, so we are joining in with the voices crying out for help for the children and young adults living with 22q. We are starting to chronicle Alisha’s day to day with the handle This Is 22q on both Instagram (this.is.22q) and Facebook (this.is.22q). Please check them out and journey along with us.