Let me state – I love all my kids equally. I just have this up because Maura takes more explaining than the others…usually…
Usually when we meet someone new, we’ll say “Oh Maura has special needs.” Short and sweet and to the point. Sometimes, that’s enough. Other times, people want more.
So here’s the “more” version -
Maura at one year old
At her one year check up, the nurse practitioner noticed Maura had some low muscle tone. Maura wasn’t walking yet, so she suggested we come back in a couple of months if Maura hadn’t started walking yet.
At fifteen months, we went in for a check up with our perfectly normal, if a late bloomer, baby girl. We left with paperwork for a karyotype, to rule out Down Syndrome. That was Maura’s first blood test and first genetic test. It wouldn’t be her last.
Quickly, we realized that our baby, who was considered “normal” for the first fifteen months, was actually delayed in many ways. Looking back, I can now see the signs – how she sat up late, how she didn’t seem to babble until six months, how she couldn’t do the pincer grasp. She didn’t walk until she was almost two.
As you do in this sort of situation, we started all the rounds to all the specialists who ran all the tests. Which pretty much ruled out everything. (See comprehensive “what we’ve tested for” list below.) It became this running joke that every test would come back normal. It also became clear, as she aged, that she was not going to catch up by kindergarten – an idea that was thrown out at us in the beginning. Eventually, doctors stopped using the phrase “Maybe she’ll catch up.”
One day, when Maura was 4, she had her first visible seizure. On horseback during hippotherapy (because we can’t be normal in any way.) She had started a strong antibiotic the day before, so we wondered if maybe it was a weird side effect. A few days later, we had an EEG. I remember how she sat there, probes and wires coming out of her hair, laughing and watching “Blue’s Clues”. I was positive the test – like all the others – would come back normal.
I also remember the neurologist walking in, pointing to a spot on her head and saying “She’s having seizure activity right here.” I spent the rest of the visit stunned – partially because Maura actually had a test that had results. For the first time in her life, we had a name for something. Of course, it seemed really scary. Turns out, it was a good thing. A few weeks after starting the medication, Maura was beginning to speak more, could balance on a swing, pedal a trike. The area the neurologist had pointed to was between memory and motor planning. So much made sense finally, but it wasn’t the answer to all our questions. It didn’t fix everything, but it fixed a few things that made life more enjoyable for Maura.
Maura, age 8
Maura is 8 1/2 years old right now, but her skills at her last evaluation landed at about the 3 1/2 year old range. Though sometimes, she’s age appropriate, like when picking out clothes. But most of the time, she is younger than her age.
Academically, she is about pre-school/early kindergarten level. She can count a little, knows her letters, can read a few sight words. However, she can’t write, can’t color within the lines, etc, because her fine motor skills are still so poor (though she can use scissors…on her hair…sigh..)
Maura’s laundry list of things goes as follows – she has gross and fine motor skill delays, speech delays, developmental delays (which really, when do they start calling it all a “delay”?) apraxia, hypotonia (which causes her flexible flat feet and hyper-flexible joints), strabismus, sensory issues and of course, epilepsy. Her IQ was tested to be about 48, which puts her in the high end of the moderately disabled category. Maura cannot speak well, is not potty trained, and doesn’t get concepts (like “fire is hot” and “yes/no”.)
Basically, on paper, Maura’s a cute bundle of incapability.
When we met the new neurologist here, he was surprised and stated that he didn’t expect her to be so capable after reading her file. He didn’t expect, when he called out her name, for her to follow along, say “Hi doctor!”, get the stuff I told her to get and make her way easily into the exam room. Because from the file he read, she seemed less capable.
That’s Maura. She’s a strange combination of ability and disability. She knows her mind, knows what she likes, and often times, knows what to do in certain situations. But at the same time, she can’t take care of herself. She can make herself a bowl of cereal, but can’t be trusted not to scald herself with hot water. She knows what she wants to wear, but can’t quite get it all on herself. She will still watch “Blue’s Clues” with absolute delight, then turn around and sit through “Doctor Who”.
Because my girl is awesome like that.
Maura is a girl who loves music, loves to sing and dance. She loves penguins, and fun accessories, and dolls with long arms and legs just like she has. She adores Tinker Bell and Rapunzel (or as she refers to her as – Hairbrush.)
I think one of the plus sides of not having a diagnosis is that we don’t know what she’s capable of. So we let her try everything. Granted, she scares the crap out of me at times because she just has to do what the others are doing, even if it’s peering over the side of a cliff. But be assured, if Maura can’t do something, it’s not for lack of trying!
As for the big list of who we’ve seen and what we’ve tested for…
We’ve seen several pediatricians/ER doctors, two neurologists, a neuro-genetics doctor, a geneticist, an orthopedic surgeon, pediatric eye doctor, pediatric psychologist, and many many therapists and teachers.
We’ve tested her vitamin levels, checked for lead, checked her thyroid, had her hearing tested twice. We’ve ruled out autism (she has never had regression or loss of skills). We had a clear MRI (that’s been looked at by 3 different neurologists I might add.) Two EEG’s – the first one that got us the complex partial seizure diagnosis, and a follow up one last fall that showed no seizure activity, showing that the medication is working.
Genetic testing – we’ve done a karyotype, chromosome microarray, CDKL5 sequencing (looking for atypical Rett Syndrome), MECP2 gene sequencing and deletion/duplication analysis (Rett Syndrome), Fragile X repeat testing, and a chromosome oligoarray. Between the karyotype, microarray and oligoarray, we’ve ruled out things like Angelman Syndrome, Williams Syndrome, Down Syndrome, and Phelan-McDermid Syndrome
Metabolic – we’ve done two different metabolic panels, which tested levels of acylcarnitines, other amino acids, ammonia, basic chemistries, CPK, ketones, lactate/pyruvate, liver enzymes and urine organic acids.
At this point, we’ve sort of run out of things to test for unless we want to do muscle biopsies. Which is not worth putting Maura through unless we know for certain what we’re testing for.
And that, as they say, is that.
I am the sister of someone who has cerebral palsy- an “accident” at birth. CP has taken away her right to walk and to do so many things. The label of intellectually challenged could apply but it does not begin to describe Juli. Like your daughter, she loves life and gets full enjoyment out of so many things big and little. She takes hardships in stride. Her soul, her personality, her spirit…call it what you want is not challenged and in fact is probably enhanced. Perhaps your daughter has a label of some sort but as you so honestly and lovingly describe her she seems like my sister- gifted in the ways that truly count! It is so good to read your words,. Thank you!
What a perfectly delightful little girl!!!!!
From ” No more bullies ” on Facebook I found your blog. Your family story, what I have read of it, is a heart felt read. I had the pleasure of meeting a teenage girl a few years ago. She lives in Canada. I would like to share her website with you : http://www.carlysvoice.com Carly has autism and can’t verbalize very well. But she is responsible for most of the content on her website !
Oh my, I do believe that we have two little ones who could be the bestest of friends!!! My daughter Eliana just turned eight in November of 2011, she is my middle child, she belongs to a quarky and wonderfully fun family, many of whom are artistsy types. But she is the QUARKY super star, one of her favorite character’s is Angelina Ballerina, because she can pretend to be a famous ballerina, (she believes and feels like she is doing all of the steps perfectly, and everyone applauds her attempts, yet she is as awkward and clumsy as can be because of her disgraphia. Her favorite computer experience is NPR tiny desk concerts, where she sits in the kitchen and sings along with WILCO, the DECEMBERISTS, ADELLE and many more. Her voice echoes through the house like a horn but brings so much gladness and love to all of our hearts, she is in true euphoria when she sings. If only I had the magical ability to hit such happiness in a daily and ever so similar routine, She could be the next wise teacher along side of your Maura, and many other of these wonderful little beings that are popping out everywhere!!! I am heartbroken that people look at my child with pity, and yes sometimes it is sad, but the saddest part about her situation is the way that people treat her. Why don’t people give our little ones a chance!!! They would be delighted to get to know them on a deeper level, but letting go of all of the “retarted” stereotypes will be one of the first steps.
I appreciate your words and world view. I too am a mother of a child from the land of misfit toys. My daughter, Alice, unexpectedly came with Down syndrome, but also due to a heart defect with goes with that and a car accident while pregnant, she had an inutero stroke. She didn’t walk until she was 4 and 1/2. People see her as having Down syndrome they don’t get that she has permant damage to 3 lobes of that brain of hers. Thankfully we had a diagnosis from birth and she had a large (over 1000) signing vocab going into preK which calmed us as to our fears about communication. I understand what you say about magical therapy must haves and nothing being assumed. She is doing remarkabley well FOR HER! I am proud of her, she progresses and perseveres with every resource we push her way, but there are all kinds of familiar and community complications , alienation,, etc.
She is turning 9 next month and she has the gross motor skills of a 5 year old, the cognitive ability of a 5 year old, the fine motor skills of a two year old, and sometimes, the attitude of a 15 year old. She very well may live with us or someone else all her life, I wish I had your mellowness to your acceptance of that statement. I still have some anger about loosing my career and the choices for me. My life has turned directions, as of this year I am a stay at home mom and have to volunteer for everything she is involved in. I do like being a Girl Scout leader and the ballet she is involved with is great, she has been in two Nutcrackers, Sleeping Beauty, and this spring Cinderella. They are very proud of having her participate inspite of her one sided hemipelgic movements.
I wlll be following your blog as there are so few Mom’s that I feel have the same mothering experiences.
It does sound like she’s doing amazing! I’m impressed with all the ballet productiosn – both my girls would be jealous (my older daughter was in the Nutcracker last year.) Maura did ballet back in Michigan and she loved it. She’s a beautiful girl, thanks for sharing the photos (I took out the link just to be safe.)
She is beautiful! Thank you for sharing her. God Bless.
she is adorable.
your story sounds like mine in many ways–we adopted Madison at 6 from China and have been looking for answers to help her for 7 years now. I can honestly say that I know what you are feeling some of the time–pulls ups, meds out the wazoo, trouble getting to school, seizures, O.C.D., one kidney with a plethera of problems, high blood pressure, low functioning mentally, and probably the most compassionate child when it comes to others who are hurting. Your post help me to realize I am not alone–hang in there!!! Sheila Temple
mother of 6, author of Gotcha Day : A Celebration of Adoption, 4th grade school teacher and wife to someone amazing. i look forward to reading new posts—
Phoebe! My brother works for the Trumbell County Board of DD and he forwarded me a link to your blog. I am a speech therapist and have worked with a wide spectrum of children with disabilities. I am a mother of 4 as well and have really enjoyed reading your blog. Here is the strange thing, we went to the Franciscan University together!! My name then was Emily Stark. I am not sure if you remember me but Josh hung out with the AMDG guys like Omar, Mark, Kevin, etc. and they were all friends of mine too. It is so cool that you live in Ireland now! I will continue to follow your blog and forward the link to others. It is just so random that my brother, who has no idea who you are, forwarded this to me.
This is what he put in his email:
“This was forwarded to me by a lady I work with in the early intervention program at our school. It is a very well written blog by a mother of a little girl with disabilities. Just wanted to share.”
Keep writing, girl, and hopefully someday you will get compensated for your skill.
Your family is beautiful!! Thanks for sharing!
God bless! emily
Well HI THERE! LOL! How funny is the internet sometimes? Thank your brother for me, and I let Josh know you stopped by
Your daughter is lovely and, clearly, so are you. The family photos are also a delight. I especially love the one of the two girls hugging and laughing.
May I say that your daughter is truly fortunate to have a mom and dad such as yourselves who tell the world things about herself that I am sure she would like to say. Good on you to focus on the positive qualities that Maura brings into the world like joy, innocence and unconditional love. These are qualities that the human race tends to forget about in their quest for the almighty dollar. She will teach the world also about compassion and empathy. God bless you and your family.
I could almost put a “ditto” on everything that you’ve stated about your daughter with the exception of a few things. My daughter, Hannah is 18 and has functions of less than those a two year old. She was 5 weeks premie, but still weighed 6 lbs. She started having issues when she was about 3 months old. Unfortunately, we felt like her first vaccine played a part in her situation, but even with a lawyers agreement on the issue, our statistics for her did not fall in line with National statiistics.
Her gross motor is very hindered, even more now that she’s on seizure meds for two major grand mal seizures that she experienced about a year and a half ago. She had a history of myclonic seizures, but nothing this severe. She is non-verbal with the exception of just a few signs that we recognize but others wouldn’t.
I recognize all the titles of specialists that you’ve seen, tests that have been given, names of syndromes ruled out………..even down to the fact that we could do a muscle biopsy to try for a diagnosis, but why put her through that when it most likely wouldn’t change a thing. My only discomfort is when people ask what her diagnosis is and we have to say, “she doesn’t have one”!!
I do appreciate your blog about her and on the use of the “r” word. I have been combatting that since she’s been in this world. Not that I ever liked it before……it just hits home now!!! I work in an elementary school and the children that I work with have heard the speech more than one time I’m sure!
Thank you for sharing your life!!! I feel like I know it well!!!!!!!!!
Oh the metabolic tests….I love those (please note a hint of sarcasm in my tone). My son has a metabolic disorder that they discovered on his newborn screening so we’re frequently visiting the cardiologist, genetic metabolic doctor, the metabolic dietician, and then his regular pediatric appointments. Luckily, that’s all that’s wrong with him (so far)…
It was funny reading the section about all the metabolic tests because Little Man has had each and every one of those tests run….and the acylcarnitine tests? Every time we see his genetic metabolic doctor…because that’s the marker for his specific disorder. All his tests have been normal, though. It took a DNA test to know that he had the disorder because of his normal tests (and not just the acylcarnitine ones – the ECG, EKG, the ultrasound of all his innards, and so many more random things). Next on the list: they’re testing Husband and I for the disorder.
As for Maura, she’s lovely and you obviously don’t let anyone tell you anything different (and I’m guessing she doesn’t either). And she watches Doctor Who. She can be my new best friend.
she is beautiful and precious.. so innocent and happy. isn’t that what life is all about.:))
She is beautiful. Thank you for writing about her. I have an uncle with Down’s, and I’ve always tried to educate people about the words they use, but you did it in a way that I never could. Thank you.
I am the primary care giver and guardian of my sixty year old aunt who was diagnosed with Down Syndrome shortly after birth. She went through public schooling in Maryland, and was one of the fortunate children to have known and met Eunice Schriever. My aunt Lisa is so loving and compassionate. She will be the first in the room to tell someone to mind their manners if they are rude. It is great to see a sixty year old; usually timid lady, put people in their place with laughter and cheers from others in the room. Lisa worked at a shelter work shop until she was 59 and started developing dementia as well. Now she has also been diagnosed with Alzheimer disease. The doctors say that it is not unusual for someone with Downs to get Alzheimer.
I came across your blog this morning, and I really enjoyed it. Thanks for the honesty, laughter, and tears that come across the miles.
What a beautiful young lady I see in the pics. What a joy it would be to meet her. I know she could teach most of us some very special things.. My mother is the caretaker of her brother who is 64 years young. He has Downs Syndrome.. He loves the Lord, and doesn’t mind telling everyone he comes in contact with.. He may forget he has said the blessing and say it 5 times before he finishes his meal, but he won’t forget to tell you about Jesus.. You see I believe God probably put him here for that purpose.. People will listen to him when they will not listen to anyone else.. He is a very special person as I know Maura is.. and God has special things in store for your family. May God Bless each of you.