Community Submission by: Ellie
Ellie is a lawyer living in Baltimore with her husband Mark. They are parents to six year old Molly and two year old Lila, who has Lamb-Shaffer Syndrome.
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To the mother of the two year old, worrying about whether to have a second baby...
I see you. I see how worried you are, about having a second kid and what if that child isn’t healthy? What if they have special needs and you can’t handle it? What if they have complex medical issues and you end up quitting your job? What if, what if, what if. It’s a lot of what if that boils down to one thing: what if I regret it?
You won’t. Even as you take your child to have her head ultrasound, to the neurosurgery consult, to the EEG, the neurology consult, the geneticist appointment. You will delight in her smiles and her curiosity and you will love the child that you have unconditionally. You will feel sad sometimes that life isn’t what you expected, that having a sister won’t be what you hoped it would be for your oldest, but you will not regret bringing this fierce spark into the world.
To the mother of the four month old, measuring her baby’s head in the dark…
I see you, creeping into your daughter’s room to measure her head while she is sleeping. I see you, checking and rechecking the WHO head circumference chart. I see you googling and every forum is full of parents whose children never dropped *off* the chart–unless they were diagnosed with something terrifying. I see you unable to function, unable to stop thinking about this and unable to process what this might mean for the future, for the long term. You can’t imagine being a special needs mom. You keep googling. You keep reading articles about fetal alcohol syndrome and other causes of microcephaly. You can’t even call it microcephaly. You just call it, “small head circumference.”
You mention it to a few people–your husband, a few coworkers, your Dad, your sister. With the exception of your sister and your therapist, everyone tells you she is fine. Not to worry. That you are just being paranoid. That it doesn’t sound like a real thing. That she is adorable (true) and happy (true) and meeting her milestones. You find forums of parents who say that their child didn’t roll until six, seven, eight months and they are totally fine. You talk to other parents whose children are the same age and feel better when they tell you their child just started sitting…and worse when they tell you their fully independently sitting baby is three months younger than yours.
The sooner you stop googling things, the better you will feel. There is no reassurance in googling. There are no answers. The only thing that will give you answers is time. You will wait, day after day after day, to see when your daughter rolls over. You will wait, month after month after month, to see when she starts sitting. And she does. The thing is, she does all of the things she is supposed to do, eventually. That’s why they are called developmental delays. Eventually you will be comfortable using that term. She rolls, she sits, she pulls to stand, she walks. You will learn how to support her learning to do these things. You will learn what it means to have low muscle tone and to be hypermobile. You will learn what it means to watch your child work really, really hard. You will learn what patience really means. You will not be good at it. But it will get easier with practice.
To the mother of the child having an MRI…
I see you in the waiting room. It is so hard to hold your child down while they put the anesthesia mask on. It’s so hard to not know what the MRI will show. It is so hard to not have answers, to try to read between the lines of the neurologist’s recommendations. You know that with each new test that is recommended, the chances of this all being the “nothing” everyone tried to tell you it was– back in March, April, May, June–is less and less likely. You know that with each milestone she doesn’t hit on time, with each quirky baby thing she does, that the symptoms accumulate and eventually they will add up to something. You know that the something they add up to is ultimately your life not looking like you expected and the potential that your child may not live independently. You don’t want answers, because if there are answers, that means they found something, and none of the things that they can find are good. You hope for treatable, but you know those odds are so, so low.
You had met with the genetic counselor and decided to wait for the results of the MRI and the lumbar puncture to determine whether you should go forward with genetic testing. Your husband thinks she is fine, and that so much testing when she is just a little delayed is overkill. You don’t know how you feel. Answers are terrifying. But at the same time, worrying that you might have caused this somehow is destroying you. Your anxiety over not getting all possible prenatal testing so you could have a full picture. Your worry–that those four drinks you had during your pregnancy are the reason your child isn’t babbling yet–is eating you alive.
The MRI isn’t normal, because that’s not what they call MRIs. It’s “unremarkable” which is good news. Or, as the neurologist puts it when she calls, “there is nothing that can be identified at the MRI level at this time.” You know that if you were her lawyer, this is exactly how you would tell her to tell patients “we didn’t find anything but we think there is still something to find.” The lumbar puncture comes back with a small and unlikely anomaly for something treatable, so genetics and whole exome sequencing (WES) is what’s next.
To the mother taking her child to an Early Intervention Evaluation…
I see you, anxiously awaiting your EI evaluation. Services would be good. Services to help your daughter (one year old today) talk, walk, eat. But what will it mean for you? How will you fit these services into your schedule? And how behind is she, exactly? You don’t know whether you want her to qualify, so that she gets the help she needs, or whether you want to be told again that she’s just a little behind and you need to stop worrying.
The EI people are so kind. They talk about how wonderful your daughter is, how great she is doing, while simultaneously qualifying her as 25% delayed for speech and physical therapy. They find her delightful and charming, though comment on how quiet she is. You leave with the information that a speech therapist and a physical therapist will call you to set up weekly services. You feel relieved, but also nervous. You aren’t surprised that she qualified. You feel hopeful that maybe a few months of EI will catch her up and you won’t have to do it forever. Spoiler alert: you are wrong about that one.
Starting EI services will be a whole other world of overwhelming appointments. You’re supposed to suddenly become a speech therapist, a physical therapist, and an occupational therapist–in addition to the full time job you already had. You will start to watch babies younger than your child pass her in milestones. Other mothers will say, without thinking, “I wish my child wasn’t walking yet.” You won’t even know what to say, so you will say nothing, and they will think no more about it, or think it doesn’t bother you. You’ll carry it around with you and think about the many, many ways people fail to recognize their privilege.
Qualifying for services will help you start to identify as a special needs parent, which is something you need to do. You need to confront all of the ways that label scares you, and why, and manage your own ableism and expectations. You will, in time, recognize your resistance as fear and shame. You will confront all of the things you’ve thought about children with disabilities and all of the ways you could have done better. You will work to do better.
To the mother in the waiting room for Whole Exome Sequencing results…
It’s been four months since the screaming blood draw where your daughter’s DNA was taken to a lab in Gaithersburg to find out whether she might be missing some genes. You know what a chromosomal anomaly is, you know what a deletion is. And all signs point to there being something missing from your daughter’s DNA. You have gone from hoping there aren’t answers to hoping the answers that you get indicate that she can still live independently one day, or at the very least, that she will outlive you.
I see the genetic counselor and neurologist meet you and your husband and your daughter. The neurologist does a brief exam. The genetic counselor is holding a packet of paper and explains what they found. 12p12 deletion. 31 genes missing. Rare. Ultra Rare. She’s the only one with this specific deletion. There are maybe 20 kids with the broader syndrome, Lamb-Shaffer Syndrome, which is a deletion or mutation of all or part of the SOX5 gene. (You will learn later that actually they have identified over 200.)
You will ask questions. Life expectancy? No reason to believe this is degenerative, but most people diagnosed with LSS are children. Ability to live independently? We don’t know. Likelihood of acquiring certain skills? We don’t know that either. The more you ask about what she might be capable of, the more relieved you will feel. We don’t know any of it, which means there is nothing that is “unlikely”. You will ask more questions. Eventually you run out of questions.
You will go home with a single leaflet, which is the total amount of information gathered about Lamb-Shaffer Syndrome at this time, and a few pages of the genetic testing documents. You will read them over and over again and process that your child will likely learn to walk, likely learn to talk, likely need educational supports.
A diagnosis changes everything. And nothing. You will go home and because somehow, kids just know when you really need a win, your daughter will pick today to start laughing. It is the best sound. You thought that it might not be useful to have information for which there is no treatment, there is no cure. But it lets you name some parts of your future. It lets you settle into the long haul of uncertainty. It helps you to see the value in patience, reframing her delays not as a question of whether she can do something, but when she will do it.
It lets you appreciate the present, and have hope for the future, and that will be enough.
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