I like to surround myself with people smarter than I am. While some people might find it intimidating, I find it thrilling to witness brilliance and like the challenge of trying to blend in. And, if I know I’m really … Continue reading
Another ALD story to share, and this one is a little different. This is a new story for ALD –hopefully the future of our disease. It’s a story about a boy, newborn screening, and a bright future. Meet Donovan.
THIS is ALD #6 — Donovan
My son, Donovan, was born in Connecticut in 2016. When he was 3 weeks old, his pediatrician called and said he tested positive for a “metabolic disorder” on his newborn screen and needed further testing. She was purposely vague because she didn’t want me to Google the disorder until we had confirmed answers. It didn’t do much to keep me from worrying, though. She mentioned that if it was confirmed, my 3 daughter’s would need to be tested as well. Without much information, I was scared for my son’s life, and the health of my daughters.
The tests came back positive, Donovan had ALD. Don’s pediatrician continued to be vague, and I understand why. She wasn’t an expert on the disease, and didn’t want to give me any false information. My first question was “Is it life threatening?” All she could say was, “It can be.”
That’s when the Googling started.
We met with a geneticist at Yale, who was the only expert in the state. The information she gave us was overwhelming, and tough to process. So many unknowns. When will it manifest? Will it ever? What type will he have? How severe will it be? There was no way to tell. My husband and I spent several nights cradling and weeping over our newborn son. So small and perfect. How could he have this monster inside of him?
After the diagnosis, I joined the ALD support group on Facebook and met some amazing and wonderful people. I was connected with lovely families here in CT, some who were also diagnosed through newborn screening!
At 3 months, they tested Donovan’s blood to get an understanding of his adrenal function. At 6 months, he had his first MRI. I was terrified. I knew there wouldn’t be anything to see in his scans at this age, but they had to put him under so that he would be still, and that worried me a lot. He came through it like a champ, though. It didn’t seem to bother him at all!
Donovan is unique. First of all, he did not inherit the gene from me. I am not a carrier, and no one in my family, or my other children, are at risk. Donovan’s gene spontaneously mutated while in the womb. This only happens in 5%-7% of ALD babies. Secondly, he is, what his geneticist called, a “mosaic.” This means some of his cells are mutated, but some are not. She seemed baffled by it. She didn’t know how or why it happened that way, or how that might affect his condition. If at all. More unknowns. So they treat him like any other ALD patient, and I am grateful.
Don is now over a year old. He will have yearly MRIs until he is 3, and the every 6 months. He will also have his adrenal levels tested every 6 months. So far, all his tests have been normal.
ALD has opened a whole new world to us. I’ve met people I never would have otherwise known. Strong, beautiful, inspiring families. Some of their stories are terribly tragic. My husband asks me why I read those stories if it makes me so sad, and I tell him, “Because they put their pain out there. I just want them to know someone is listening, and someone cares.”
I am not a perfectly patient person, not at all! But I do think I live a bit differently, now. I take more pictures and videos, I give more hugs and kisses, I say more “I love yous.”
Donovan is my 4th child, but my only son. His older sisters adore him! He is cuddly and happy. He is curious and likes to get his hands on everything! He has even started climbing, now! His sister, Josephine, is only one year older than him and they are best friends. They do everything together and always want to be with one anther. My older 2, Mika and Ripley, help change diapers, teach, and play with him.
None of our children know much about his ALD. My 9 year old has heard us use the term and noticed his many doctor appointments, and she just understands that he has something inside him that could one day make him very sick. So we have to keep an eye on him. We have settled into our “normal.” Life has gone on, and I couldn’t be more grateful for that! For the chance for life to go on.
Diana and I met through the ALD Support group she mentioned and when she agreed to share Donovan’s story I was thrilled. It’s so important that people realize the advantages of newborn screening and an early diagnosis. Although the news must have been a huge slap to their family they are allowed to prepare and monitor.
The hope is that beautiful little Donovan will go on to have a perfectly normal life and ALD will stay dormant forever, but just in case, his family has a plan in place. It’s thrilling.
Diana told me that she wasn’t a writer, but I beg to argue. Her voice shines as a mother who loves her children and will do anything she needs to do to give them the best life possible. Thank you for sharing your story, Diana, and for helping people better understand our not-so-rare disease and the importance of newborn screening.
The response to THIS is ALD has been remarkable (If you missed post, check it out). I’ve spent much of the last week corresponding with people in the ALD community — hearing stories and sharing our own. It’s been emotional, but it does have me thinking that I’m onto something good.
I was working on a post about Goucher College and The Grateful Dead (including some marriage advice), but that’s going to have to wait. I have another ALD story about an amazing boy named Dalton.
THIS is ALD #3 — Dalton
I met Dalton’s mom, Jennifer Lindsey, in person this fall at an ALD symposium. I’d followed their ALD story since the beginning, and I was glad that I got to turn her from a stranger-friend to a friend. She is smart and loving and dedicated to the ALD community. As soon as I reached out to the ALD world asking for volunteers for THIS is ALD, she sent me a note. She agrees that the more people share, the brighter the ALD landscape will be.
Thank you Jennifer for your words.
Dalton was a very laid back, easy going kid. On a normal day, he wanted to wear jeans and a t-shirt. In fact, if I ever had a polo or button-up shirt set out for him he automatically assumed it was picture day. He kept his hair short, but did have a Mohawk a couple times, which he thought was awesome. Dalton was a hot mess, but he was my mess. One moment he could be the sweetest, most loving kid you ever met and then turn right around and be the most devilish, ornery kid ever.
I always thought Dalton was destined to be a comedian. He could always make you laugh, even if you didn’t want to. Sometimes it was genuinely funny and other times it was just so downright stupid it was funny. Even when he wasn’t trying to be funny at all, it just came naturally to him. At times he didn’t know when to stop. He just liked making people laugh so much that if it worked he would keep it up, which at times was just fine and other times could be so frustrating. Like most kids, he didn’t have a filter, so there was no telling what was going to come out of his mouth. Dalton was a very sweet, loving boy who was robbed of everything possible by this monster we call Adrenoleukodystrophy.
Dalton was diagnosed on July 13, 2016 with Adrenoleukodystrophy, a genetic metabolic disorder that attacks the myelin sheath of the neurons in the brain. It literally robs these boys of their vision, hearing, motor skills, mobility, speech, ability to swallow, and eventually leads to death. A bone marrow transplant can stop the progression of the disease if successful, but does not reverse the damage already done.
He was a perfectly normal 10 year old boy before. We had no clue. The only reason we had an MRI was because he was having hearing issues in May, 2016. I was thinking it might either be a brain tumor or a processing disorder so we did the MRI to be on the safe side. Second worst day of our lives. At that point they sent us to Riley in Indy, who more or less gave us a death sentence. We were then several days later pointed in the direction of the University of Minnesota Masonic Children’s Hospital, where we spent almost 5 months.
Dalton had his stem cell transplant on August 29, 2016 which went beautifully, but he contracted the Epstein Barr virus in October, had to undergo more chemotherapy, and then was diagnosed with acute grade 4 gut graft vs host disease around mid-November. They tried several treatments, which were unsuccessful, and he was sent home on his birthday, December 1. We were under home hospice care until December 13 when he passed. I believe with all of my heart that newborn screening and gene therapy would have saved Dalton’s life.
Watching Jennifer’s Facebook feed over the last few weeks has been difficult. She has been reliving/reflecting/sharing (not sure of the right word, but it’s been both heartbreaking and beautiful). “See your memories” is a feature on Facebook that should be about fun memories of silly times over the years, but when you’ve lost someone, it can be upsetting. Jennifer’s Facebook page has been sharing the last few weeks of her son’s life as well as who he was before ALD crept into their lives. Dalton’s radiant smile before ALD is beautiful, and that is the boy that I chose to picture here. I love how Jennifer describes him, “One moment he could be the sweetest, most loving kid you ever met and then turn right around and be the most devilish, ornery kid ever.” Sounds like an awesome boy!
Unfortunately, Dalton’s story is not uncommon for ALD. Stem cell transplants have profound risks and if the disease has escalated passed a certain point, many boys lose skills quickly during the process. And, like in Dalton’s case, a transplant can leave a person vulnerable to infection, rejection of the new cells and Graft vs Host Disease (where the new cells – the graft, attack the body – the host).
As Jennifer says, Dalton’s story might have been different if they had had the luxury of newborn screening for ALD and had had access to gene therapy. Newborn screening allows families to prepare and monitor their child’s health so that treatment is provided in a timely fashion. Gene therapy does have risks, but Graft vs Host disease and rejection is avoided. It’s a game changer for ALD.
For more about Dalton and his journey, check out: In the Blink of an Eye: Dalton’s ALD Journey
Thank you Jennifer for sharing Dalton’s ALD journey.
Please contact me at email@example.com if you are interested in sharing your ALD story for THIS is ALD.
Every weekday morning, Anna races downstairs making sure she gets a chance to give her Boogie* a hug before his bus arrives. It makes my heart melt. No matter what’s going on in our family, our country, or the planet, I try to pause and enjoy the love that these kids have for each other. Siblings/best friends – the strongest bond I’ve ever witnessed. I’m a lucky mom.
That is all.
* Jack AKA Boogie, Boogie Brown, Boogs, Boogs McGee, JackO, WackO, The Weasel
My daughter/sister/bestie is 17 today!
Anna left at the crack of dawn for the DMV, and returned with a huge smile on her face and a driver’s license in her wallet. Once I was done jumping up and down with her in the driveway, I found myself in a puddle of tears. And, the tears aren’t stopping.
I’m hoping that some time here on the computer will help me sort out why I’m finding today so overwhelming. If I can just find the words, I might be able to make some sense out of all these emotions.
I’m excited for Anna. 17 is huge and getting your license is a great achievement. I know that some kids these days aren’t too interested in driving, but our girl has been obsessed with cars since we let her drive up the driveway on Block Island when she was twelve years old. She organized a driving instructor and even talked us into giving her Dan’s car over a year ago (he took the train today – anyone selling a car?). When our girl gets her mind set on something, she’s all in. And, Dan and I have also been looking forward to this milestone. Not needing to worry about getting Anna to and from school and lacrosse practice – AND having her help with errands is going to be wonderful.
So, what’s with all these tears? Here’s what I’ve up with:
1.) There is always the “Jack Factor”. That punch in the gut when there’s a bold reminder of something that Jack will never experience. That was further highlighted today when I realized that the rest of my day included stocking up on his diapers at Target, dealing with Medicaid, and setting up some doctor’s appointments. That punch never goes away.
2.) The phone call to our insurance company adding Anna to our plan. Even with the “good student discount”, the increase to our policy was startling. Probably not enough to make me cry, but it certainly made me pause.
3.) As much as I love having a daughter/sister/bestie I can’t believe I no longer have a little girl. Wasn’t she just born?
I won’t go into all the details of the day Anna arrived, but I will share that it wasn’t quite as beautiful as I had imagined the birth would be. I had begged my doctor to allow me to have a VBAC (vaginal birth after c-section). Jack had been breech and 10 pounds – a scheduled c-section. I’d felt cheated from having a typical “birth story”, and thought that this was a great idea. Unfortunately, it wasn’t as fun as I expected. I had signed up for a VBAC, not for a natural delivery, but by the time Anna arrived, any bit of pain medication was gone. GONE.
Needless to say, I was in agony. The only thing that kept me from continuing my four-letter-word rant, was when I heard the doctor say, “It’s a girl!”
I stopped screaming to ask, “Are you sure?”
Dan and I didn’t know the gender of either Jack or Anna before they arrived. We loved the idea of the “ultimate surprise”, but truthfully I wasn’t ever expecting to have a daughter. Dan’s sister, April, is the only girl of her generation on the Torrey side. And, Pop Pop (Dan’s father) is one of four boys. When Dan and I started our family, I really pictured myself as a mom of a couple of boys. “It’s a girl” was a complete surprise. We had no name prepared and nothing pink waiting for her arrival. I just stared at this little peanut as she was placed on my chest, wondering what it was going to be like to have a daughter.
It’s been amazing, but how did the time go so quickly? How is that little girl with no name or pink blankets driving a car to pick up her boyfriend and go out to lunch?
Okay – I got it. I’m hysterical because my job as Anna’s mom is reaching the end. Thank goodness MyMom is on her way for a visit. I need some love. Hey, wait a minute . . .
Happy Birthday Banana! You can come home now. I’m done crying for now;)
I apologize to anyone who was at the Millburn CVS on Sunday. All the pharmacist said was that our prescription would not be ready until the next day. She didn’t know that it was my third attempt to pick up … Continue reading
Twenty years ago (years before I was even pregnant with Jack), I was a middle school art teacher in a suburb on Long Island. One day, the principle asked me to come down to his office to discuss something. He told me that there was a boy in the district who was profoundly autistic. He wasn’t mainstreamed in any classes, but he really loved art. The principle asked if I would be willing to have the boy join my seventh grade class.
I didn’t know much about Autism, but I did know about tenure, so I nodded my head and said that I would love to.
The next day I was introduced to Harry. Harry could barely speak, couldn’t look me in the eye and had a host of very unusual behaviors. Initially, I thought HOW is this going to work? I was a new, inexperienced teacher and had 26 other seventh graders in the class – seventh graders!
I was surprised and delighted that over the next couple of weeks I didn’t just get used to Harry and his quirky behavior, I kinda fell in love with him. There was something magical about the way that he was able to tune out the chaos around him and focus on his work. And, the feelings where mutual — before long, part of Harry’s daily routine was to stop by my classroom several times a day to hug me. Long awkward AND awesome hugs.
As Back to School Night approached that year I was super excited about meeting Harry’s mom. I felt like I needed to tell this overwhelmed/exhausted women that she was doing a great job – that Harry was a great kid. I was going to make her day.
The night arrived, and as my seventh grade class of parents filed in, I scanned the room for Harry’s mom. I’m not sure what I was looking for but I was certain I didn’t see her. There was not one person in the crowd wearing a “I’m a special needs mom” hat. I was disappointed, but moved on with my “Why Art is the most important subject in your child’s curriculum” speech. When it was over and the class started to empty, a woman walked up to me and introduced herself, “Hi, I’m Harry’s mom”
I was floored. She’d been there the whole time and I hadn’t recognized her. She wasn’t at all what I expected – she was showered and had make-up on. She was even smiling. I paused a little too long and then made things worse by hugging her and telling her how much I adored her son and great I thought she was. That hug made Harry’s hugs seem pretty normal.
As she removed herself from my arms she said, “Thank you so much Mrs Torrey. THAT is great to hear, but I know how amazing Harry is. I’m not just a special needs mom – I’m Harry’s mom. Harry’s life might be a little more complicated than his peers, but I have always tried to not let Autism take over our family. I have other kids, I have a job and a husband and friends. If I let Autism define us, I am letting Autism win.”
I’m not much of a believer in “all things happen for a reason” but Harry’s mother’s words have stayed with me for over twenty years.
When Jack got sick and it started to become apparent that his disabilities weren’t temporary, I remembered that day meeting Harry’s mom and thinking that if I could just keep her attitude my family just might survive.
Sitting at a dinner table in the heart of Paris I watched my mother and daughter debate everything from single-sex college dorms to the definition of rape. Suddenly it occurred to me that I was watching two extraordinary women. Two of my closest friends.
I’ve always been close to my mother – first as a daughter and then as a friend. I remember when our relationship turned from mother/daughter to friend/friend. I was older than Anna. I needed to be older than Anna. I needed guidance well into my twenties (okay – I still need guidance, but my mother is much better at slipping her advice into polite conversation – usually).
It’s strange when your mother becomes your friend because she becomes human. She’s no longer the person behind a curtain who you fear but can’t really see. This new person makes mistakes and bad decisions (not you, Mymom – I’m just trying to describe most mothers). She goes from telling you what to do, to what she did and how she learned. This women asks you for advice and helps you without needing to take over. I loved when our relationship switched, but I was an adult when my mother’s curtain fell. My curtain seemed to fall off without me even noticing.
Anna learned early in life that I am human. I blame ALD for the weakened grip on my motherhood curtain. ALD has a way of stripping down resilience. Too much energy is taken with worry and late nights. It been quite a while since I was careful with my answers to even the most “adult” questions and I’m certainly not great at hiding four-letter words or less-than-perfect mother behavior. Fortunately, Anna has always loved me unconditionally and she seems to know which of her mother’s characteristics to emulate and which to stay away from . . . She has grown into a remarkable young woman. Anna’s not just a good student, but she’s smart – not always the same thing. And, she’s funny and kind. I’ve known all this for a while, but in Paris while sitting at the dinner table covered with a thin white tablecloth, I gained an appreciation that she has also become incredibly self-assured and well-spoken. Watching her with my mother, debating rather inappropriate topics for a sixteen-year-old and her grandmother, I thought WOW I want to be just like Anna when I grow up.
Anna and I have talked about going to Paris since she was a little girl – a girl’s trip to celebrate her sweet-sixteen. We invited all the women in the family to join us, but life is complicated for everyone and Mymom was the only taker. As disappointed as we were not to have the whole crew, it was lovely to have just the three of us on this adventure. Museums, long walks through the city, elegant meals, even a Segway tour (don’t ask Mymom about it – she’s still recovering). It was all perfection, but my favorite part was watching these two people that I adore debating each night at dinner. I came from one and created the other. Nothing is more amazing than that.
This week has been busy with Smiles and Duct Tape getting out there. I’ve been distracted with marketing strategies and thank yous and begging for reviews on Amazon (not that I am doing that here), but I keep thinking about our magical weekend in Paris. I have two such strong, impressive (opinionated) women in my life. Lucky me.
PS Anna still has a curfew. She might be mature and amazing, but she’s still only sixteen.
I’m gonna say it. It’s not appropriate or good parenting by any stretch. I can’t believe I am going to put this in writing, but her it goes — my daughter is my best friend.
Brunch is a lovely invitation, especially for Mother’s Day. The idea of not being responsible for the cooking or doing the dishes is always welcome. And who doesn’t love being showered with a little extra love on Mother’s Day (while getting to spend it with Mymom)?
So when my folks called to extend an invitation for Mother’s Day Brunch at their country club, my first reaction was a smile, but quickly my mind started to race.
Does Jack’s sports jacket still fit? I’m fairly certain that he ate his last tie. Could use one of Dan’s? I wonder if he could reach a bow tie with his mouth. Does Target sell bow ties? I’m not spending another $80 at Vineyard Vines for a single-time use.
Then, I started thinking about all the other pitfalls that might be lurking at the country club. We’ve enjoyed many wonderful times there, but Mother’s Day is sure to be a scene, and that just adds to potential problems we could face. A simple outing for brunch can be complicated for our family, especially when there’s a coat and tie involved.
The diaper bag needs to be packed. We’ve changed it’s name to “The Satchel of Freedom” (thank you Peter). The new name focuses the attention on the fact that the bag allows us to rome free, but it’s purpose remains the same. It’s full of diapers and wipes and a change of clothes. The change of clothes includes socks. When Jack goes to the bathroom, it’s not uncommon to require a FULL set of new clothing. Do we have a another set of “fancy clothes” to fill the satchel?
This brings me to the next concern when going out for a meal with Jack. We need to consider the bathrooms for any needed “costume changes”. When Jack was a little younger, I could get away with bringing him into the Lady’s Room and sneaking into the handicap stall without attracting too much attention. At seventeen, Jack is harder to sneak in without creating a lot of puzzled looks. People try to be polite, but I feel the stares as I start to walk Jack toward the bathroom. His hopping gait doesn’t help staying inconspicuous. Sunday at The Club might be crowded. Is there a private bathroom hiding somewhere?
Yikes! Sunday is going to be really REALLY crowded.
A big crowd means that they might squeeze in extra tables. Now that Jack has added hopping to his repertoire of behaviors, if tables are too close together, he tends to knock against people causing quite a scene. It’s particularly awkward when he bumps a table and then tries to snatch a piece of bread off a stranger’s plate. Dan and I have both learned many funny one-liners to try to apologize for such instances, but it’s still not fun.
This isn’t going to work.
“Let’s definitely get together Sunday, but is there any chance we could go somewhere else? Somewhere Jack friendly.”
Mymom gets it. Although she loves showing off her grandchildren, she has helped more than once assisting in a complicated clean up, and she understands that Mother’s Day may not be ideal at a crowed club.
I made a reservation for an early dinner at a local restaurant that has broad isles between tables and large, private bathrooms. We will get ready early in case of any unexpected delays, making sure Jack is wearing dark colored pants to mask any spilling/leaking. No jacket or tie required. The Satchel of Freedom will be packed and ready for any unfortunate events and we will draw straws to see who gets to feed Jack.
I’m much more relaxed with this new plan, but we never leave the house without crossing our fingers. Going out with our boy is always an adventure.
Happy Mother’s Day!
What happens when you put 8 special needs moms at a table? You hear a whole lot of swearing and laughter.
Last night I went out with a group of moms to celebrate an incredible woman who is leaving HHS (she’s not a special needs mom herself, but she gets us and we miss her already). The mood was mixed as we arrived — goodbyes are never easy and change is particularly hard for us special needs moms. Our friendships vary from close to barely acquaintance, but we all share one thing – being the mom to a special kid (or two).
The hostess showed us to a table in the back of the restaurant, where we were less likely to bother other patrons. I guess a table full of ladies always has the potential for loud voices and racy chitchat. Within moments of sitting down, several conversations started at the same time. Far from the discussions I have with my “typical” mom peers, that center around our kids GPAs, prom, college applications and juicy town gossip, most of the discussions around the the table last night were about guardianship, social security and how many seizures in a day is normal in our given homes.
Such different words, but the tone felt similar to any other moms’ night out. I imagine if you couldn’t hear the particulars of our conversations, we looked and sounded just like any other group of middle-aged women. And, once we got settled and the wine got poured, the laughter started.
I’ve never had many “special” mom friends. Remember – Jack was typical until he was eight. By the time our family was thrown into the special needs world, our dance card was full. Besides, I didn’t think I could possibly have much in common with a group of women I felt vaguely sorry for. I figured they must be so sad all the time and overwhelmed and have no time for anything except doctoring and complaining.
Then, one day I realized that I WAS a special needs mom. I’d earned my title and I wasn’t completely buried under the job requirements. Perhaps there were others like me. Other moms with special kids who were still living life and wanted friends who understood them in a way that their typical friends couldn’t.
I started slow and found a couple moms at our last school and was amazed to discover that they were just normal women who happened to know the difference between a grand mal and an absence seizure and what the letters AAC stood for . I had a lot in common with some and absolutely nothing in common with others – just like “typical” people. Amazing!
It’s taken some time, but I finally have a little circle of women that I can call my friends who know one side of me that’s still foreign to most people in my life. We can bounce off ideas about alternative therapies and strategies for shaving/haircutting/and all-around-grooming our teenagers AND we can bitch about our husbands (not me Dan, it was the other ladies) and talk about our new diet plans. AND, we can laugh about (almost) all of it!
I left dinner feeling lucky that I’ve found this group of ladies. I wish it hadn’t taken me so long to realize that “special” moms are just “typical” moms with more patience and a better sense of humor. I look forward to my next “special” moms’ night out!!
I did learn a few things last night. Wondering what words you should never use? “Retarded” and “normal”. What words are A-OK with special needs moms? “Intellectually delayed” and “asshole”.