Dear Phelan McDermid Syndrome,
When I met you about 6 months ago I had no idea what questions to ask let alone know how to feel about you. I had no idea what you were or how my whole life would be consumed by you. I used the Phelan McDermid Syndrome Foundation(PMSF) website, www.pmsf.org, to gain a lot of knowledge about you and luckily was able to connect with an awesome family support group on Facebook thanks to PMSF. Then I get questions like the following one, and instantaneously I found myself inspired.
"Oh WOW, did you even get a chance to grieve his diagnosis?" Asked my son Mikey's therapist.
While I understood the question I didn't understand why it was asked and it actually got on my nerves that it was asked in the first place.
You see, Mikey has a rare chromosome deletion called Phelan McDermid Syndrome. It is a deletion(sometimes duplication or translocation) on the long arm of Chromosome 22, which in my son's case, is caused by Ring Chromosome 22. My son's deletion is very small and he is missing only two genes completely and is partially missing a third gene. One of the genes, known as SHANK3, is one of the two he is completely missing and as a result Mikey suffers from global developmental delay, hypotonia(low muscle tone), poor thermoregulation, chronic constipation, and a possible heart condition(have to follow up with cardio) as a result of Phelan McDermid Syndrome. Autism and Epilepsy are also very common in this syndrome. We do not know what the future will hold for our little Mikey, but we know we will get through whatever it is, together.
I will not grieve you Phelan McDermid Syndrome. I have no reason to grieve you. Although you are scary and unknown, my God is greater than you. Although you are downright mean sometimes, my son is ALIVE and I still have approximately 1,300-1,400 other families in this world to relate to. Although Mikey will and does face struggles, you have brought out determination in him that I haven't seen in presidential candidates-let alone anyone I know.
Because of you, Mikey's older brother, Blake, and younger sister, Madison, will always have a heart for special people like their brother. They will learn patience, understanding and compassion they never would have if you didn't enter our lives. Because of you we have met some amazing therapists, specialists, people, etc. Because of you, I now go out of my way to help disabled patrons I see...anywhere. Because of you I have answers and a guideline for Mikey's life. He had baseline testing done for conditions that could possibly shorten his lifespan in relation to you, and now they won't because I have the knowledge that they could be lurking around. Because of you I will forever be an advocate for genetic testing. I am happy we have you and not something MORE rare and severe! Sure, life is harder with you around, making Mikey medically fragile and unable to do normal kid things-like make a snowman or go for a walk on the beach in 100 degree weather, but we love that he is happy, that he will probably believe in Santa and the Easter Bunny for his whole life and he will be our forever sleepover buddy!!
Maybe this isn't how I dreamed my life would be, but if I went back-it would be my dream now. There is nothing better than having your non-verbal child squeeze you tight with thanks, love and gratitude that you understand him and love him no matter what! Mikey is the light of our lives and I wouldn't have him any other way. He brings the best out of people and I love that about him. I thank the Lord for giving me this very special child, I do not and will not grieve about his diagnoses. I will do the Lord a great service by advocating for Mikey and his siblings and helping him meet his full potential.
So upon being asked this question I answered, "what do you mean did I grieve?"
Maybe my response is not typical? Maybe other special needs parents grieve? As far as I'm concerned, there are far worse cases of Phelan McDermid Syndrome and far worse and way more rare syndromes out there. So no, I didn't grieve. I won't grieve. I won't look down on those who do grieve, and I hope they won't look down on me for not grieving. I thanked the Lord that Phelan McDermid Syndrome is something we can live with and I moved forward. I took my son to doctors and specialists where I taught THEM about my son's condition. I advocated and got him necessary testing done. I set up therapies and he is thriving with them and hitting milestones left and right! He currently has 8 therapy appointments a week, totaling 7.5 hrs/wk. Who has the time to grieve when you have a kid that needs extra care?? I certainly don't have that kind of time. If people want to look at me strange when I say "No, I didn't grieve his diagnoses" then bring on the funny looks, because at least I can say I am enjoying my son for as long as God will allow me to.
While I'm not angry with her for asking, it reminded me yet again to just enjoy my son. There is not enough time in the world for me to grieve and enjoy him at the same time.
And besides, even if I wanted to grieve, who has the time to with 3 kids?? I just want to enjoy my children and thank our awesome God for giving them to me.