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A Letter to Myself On Rare Disease Day

Give yourself a break. Don't feel guilty. Don't blame yourself and don't blame your husband. Don't blame the move to London or that you sometimes drank unfiltered tap water -- or a glass of wine. Don't blame the cups of coffee. Don't blame EU emissions standards. Do not blame Tony Blair.
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Monday, February 29th marked Rare Disease Day -- an international effort to increase awareness of and support for individuals and families whose lives are affected by a wide range of somewhat obscure diseases, disorders and syndromes.

It's obviously a day with which you'd never hope to have a personal connection. "Rare disease" is everything it sounds -- unusual, frightening, alienating. Diagnosis shuts the world down for a time. You wonder how this is possible, what lays ahead, how you will manage -- unsure if you can. And then slowly one day leads to another and somehow you do. It would be nice if you could tell yourself this on day one.

The following is what I might have told myself the day our daughter was diagnosed with a rare, life altering genetic disorder. She was 22 months at the time and we had recently moved back to New York from London, where Erin, now 14, and our son, Will, were born.

OK -- breathe.

Yes you heard right, Erin was diagnosed with something called Isodicentric 15. I know. What the hell!? That wasn't in the realm of things you worried about -- and you worried about everything. She has ten fingers and ten toes -- but she also has an extra part of Chromosome 15. Yes you heard right -- developmental delays -- speech, language, motor impairments -- autism spectrum. No this is not good -- but it confirms what you've been thinking since that first day. Something was not right. Something was off. (It's called "hypotonia" not that "she's just a bit floppy" as the GP responded to your concern over Erin's inability to hold up her head by three months.) So in a way that's a positive. Your instincts were right.

But I know you're not feeling very positive right now. And that's ok. It's ok to take some time to be sad -- and to process what the geneticist so clinically outlined. But don't ignore it because you're mad at him. Don't space out and slip into denial. You heard him mention PT, OT, Speech Therapy. Early Intervention. Get on that.

And do not dismiss that scary sounding therapy: Applied Behavior Analysis -- just because the slide show and presentation at the seminar makes it look cruel and unusual. And don't ignore the urging of the woman from the agency who suggests a home-based 40-hour a week ABA program just because you don't like the way she sits on your sofa and sizes up your mess. Do not dismiss her because you suspect she really just wants to get Erin out of the classroom. It's ok. Suspend your suspicions long enough to realize that there are people out there who want to help Erin - and know how. Curt manner aside, this woman actually knows what she's talking about. ABA will help. It's not going to isolate her. Erin needs it more than she needs to sit alone in the corner of a classroom spinning the wheels of a matchbox car. It will help her. It will draw her out of herself. She will learn to sit and to listen and to respond. She will learn to communicate.

At the same time, steel yourself. It will not be easy -- it will be gut-wrenching to hear your 3-year-old daughter crying because she doesn't have the words to say that she just wants to sit on the floor and admire the ceiling fan. You don't want her to go through life comfortable and happy only when she gets what she wants. And you do not want her to want that. ABA will take her a long way. But when you feel she has plateaued and you learn of new therapies don't torture yourself about leaving her team of teachers. They know how you feel -- you can never thank them enough. But it's ok to make a change. Be confident. You are the mom. And you're a good mom.

Give yourself a break. Don't feel guilty. Don't blame yourself and don't blame your husband. Don't blame the move to London or that you sometimes drank unfiltered tap water -- or a glass of wine. Don't blame the cups of coffee. Don't blame EU emissions standards. Do not blame Tony Blair.

Less than ideal things happen for no reason all the time. You know this. Don't feel guilty. You did what you were supposed to. You took the vitamins. You avoided soft cheese. You may feel that you did what you could to avoid something like this -- that you didn't deserve this, but people don't get what they deserve. They get what they get. You get what you get and you don't get upset. In a few years your son will skip home from pre-school reciting this mantra. He will still get upset when he doesn't get what he wants. And you can too -- for a short time. Then get on with it and realize that while this diagnosis feels bad -- it is not the end of the world.

In fact, if you're up for hearing it now, it will bring many positives -- so many good things.

This diagnosis will bruise but not break your heart, your family, your marriage. It will strengthen and enrich every relationship in your life. It will stretch your soul. But before you can begin to understand this you have a lot of work to do - and so many exceptionally kind people to meet along the way. Some you have known all along, some you will know for only moments - but with a smile or a word they will remind you that you can do this. You can't see them from here, from this awful chair, in this awful office, on this awful day -- but they are out there waiting for you.

So get going and enjoy your daughter. Don't focus on what she can't do or is not doing by the time she is "supposed" to be doing it. Celebrate what she manages to do in her own time.

Know that she will learn to talk and to sing about the sun and the trees and how they dance in the wind.

She will learn to hug and to love.

Hug and love her back and go home and hold your baby boy. Hug him as much as you can and celebrate his milestones too. Don't be sad when he surpasses Erin. Incredibly enough you will have two more boys who will do the same. This is ok. You will be blessed with four very different children with unique personalities, interests and strengths. Don't compare and contrast. Celebrate them. Listen to them. Learn from them.

This will not be an easy road -- your sadness will be cyclical -- but on the darkest days know that it will always abate and the good and beautiful moments and people will far outweigh the bad. Have faith in this -- and that Erin will one day teach you and all who cross her path what matters most: love and hugs -- and songs about dancing trees.