about maura

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 (which came back normal). 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.

Last year, her neurologist noted that she hadn’t had a visible seizure in over a year, and we successfully weaned her off seizure meds. In doing so, we saw a slight leap in skills, just like we did when she started the meds. That slight leap let us know we were doing the right thing, that it was time for her to come off meds. I say that her epilepsy is in remission, because I know it could come back.

Maura, age 8

Maura is now 12. 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 quite write, button clothes, etc, because her fine motor skills are still behind.

Maura’s laundry list of things goes as follows – she has a cognitive disability, gross and fine motor skill issues, motor planning issues, apraxia, hypotonia (which causes her flexible flat feet and hyper-flexible joints), strabismus, sensory issues, and epilepsy.  Her IQ was tested to be about 48, which puts her in the high end of the moderately disabled category. (It goes mild, moderate, severe .)

Basically, on paper, Maura is pretty disabled.

That said…

When we met the new neurologist when she was 8, 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 independently, not yet.  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 “Wonder Pets” 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.

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) and several EEG’s.

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.

Maura, age 12
80 replies to about maura
  1. 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!

  2. 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 !

    1. Thank you for taking the time to share about your life. I work at a high school in a special needs classroom and I love love love what I do. My daughter (she is 19) told me yesterday that she is grateful for all the experiences I have shared with her in my classroom and working with differently abled children at home. She told me that some of her friends (acquaintances) are still unaware that there are children with special needs because their parents have not talked to them about this or they have not been given the opportunity to meet a child with special needs. Often people become afraid of what they don’t know and that is when they become unkind. Thank you so much for your heartfelt blog. I love reading stories like Maura’s. I have a dream. I don’t like institutions or institutional like spaces for children or anyone sensitive to their environment. I would like to have a place in the country where I can do recreational therapy with students who have various abilities. Currently, I take a young man to horse therapy once a week and it has been wonderful! These children need to experience life in a way that enriches them and builds on their strengths and interests and within that they can learn some of the things that we feel are important but irrelevant to them. I hope you continue your blogging about Maura. Thank you!

  3. 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.

  4. 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.

    1. 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.)

  5. 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—

  6. 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

    1. Well HI THERE! LOL! How funny is the internet sometimes? Thank your brother for me, and I let Josh know you stopped by 😉

  7. 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.

  8. 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!!!!!!!!!

  9. 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.

  10. 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.

  11. 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.

  12. 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.

  13. I found your blog through a link shared by “Mommies of Miracles”. (They linked to the post entiteld “Being Retarded” which I enjoyed reading and could not agree more! I LOVE the way you creatively explained what it is, what it is not, etc. Very well written.)

    While browsing through your blog, I clicked on the tab to read about Maura and appreciate how you share your heart in explaining what challenges she is facing–sounds like you all have been through a LOT (to say the least!). Right now we are currently seeking further opninions/diagnoses for our 7 1/2 daughter and reading this post gave me hope and encouragement to not give up in trying to find out what I can about and for my daughter! (Brief history: She was born at 23 weeks gestation and devloped ROP as a result so she is visually impaired. Recently it is becoming more apparent that there could be some other issues going on with her having to do with neurological/cognitive behaviors, etc.–she did have a brain hemorrhage upon birth as well so there’s the question if some of her sympotoms are the effects from that. We are just want to make sure that in our focus on her visual impairment we have not overlooked anything else!). She has also been tested by a psychologist and her IQ was low as well(52), although they did question the accuracy of it since some of the testing is visual (my husband and I feel strongly that the visual aspect would not have caused such a large discrepancy in scores).

    Currently, we have a scheduled appointment with a 2nd neurologist as well as a pediatric neuropsychiatrist in the next couple of months. We are just concerned that the gap between her and other children her age seems to be widening; it is also complicated by the fact that she has difficulty in communicating anything to us including needs, wants, feelings, etc.

    Sorry to ramble on and on…I just wanted to let you know that I appreciated reading about your daughter, and again, it provided some much needed encouragement since it is very easy to become overwhelmed by all the “what if’s” and unknowns. I look forward to following your blog
    If you have any further advice I’d be happy to listen…

    Thanks again.

  14. HI Phoebe,
    i cannot tell you how much finding you blog meant to me. i first came across your blog about the word retarded when i was at work ,i cried it was everything i wanted to tell my friends, my family, even strangers. My son Brendan is 4 and much like your Maura, he has been tested for most of the same things, just no seizures were found, -we did extensive metablolic, mri’s, eeg, genetics including rhett and angleman. in the end there is no answer to be found, and like you i tell myself that is a good thing, no one can tell us what he is capable of. He is a contradiction of sorts,he baffles the doctors and therapists who have no answers to give. They say he probably has a genetic syndrome, it just hasn’t been found yet. He astounds us with his memory yet is not able to answer simple questions with a yes or no, even though i know he knows what we are asking . But he is determined and knows what he wants, he can bring a smile to most peoples face with his sweet kisses and hugs. My parents are from belfast so i smiled when i saw your childrens names. His name is gaelic for Prince. I have an Aislyn and a Nolan too, Brendans big brother and sister. Anyway i wanted you to know how your writing and your story has brought me some comfort today, i hope you keep writing and your dream comes true, your words spoke to my heart and that is a true gift. take care

  15. You should just tell people she’s brain-damaged or mentally retarded (whatever label you feel comfortable with). That’s what our sister is. She was born that way (it had nothing to do with the birth which was fine) and has a lot of the same symptoms as your daughter. She’s grown-up now though. I recognize all those tests you’ve mentioned (she’s probably had them all) and personality-wise, is independant but can’t be trusted to take care of herself. She doesn’t understand many concepts that people would think she should due to her seeming more capable than she is. She did get therapies that doctors and teachers (special-education) recommended, and they helped but she never progressed beyond certain grade levels academically. But I wouldn’t waste any more of your time trying to find the right diagnosis or name for her condition – my guess is you’re never going to find it or it doesn’t exist. Just go with something catchall for the insurance companies and don’t worry about it. You know what to do as a parent in terms of taking care of her.

    1. Here’s the thing – first, she’s not brain damaged. There is a difference. Second, it’s easy to say “don’t waste your time trying to find the right diagnosis” when you’re on the outside of the situation. My life isn’t constant rounds of doctors and testing. However, when you start on this journey, you do go through certain sets of testing, tests for the most common disorders, because A) they’re common and B) some of them do have treatments (like metabolic disorders).

      Also, people like answers. People like nice little labels to explain things. A “catch all” like cognitive delays doesn’t give you answers – it gets you services but not answers. If you have an idea of what you’re dealing with, then you usually have a clue as to what the future holds. For example, it’s common for children with Down’s Syndrome to have heart issues, and some children with autism will develop a seizure disorder. If you know what to watch out for, you’re less blindsided.

      Besides, I’ve always liked a good mystery.

      1. Sorry, but she is brain-damaged, retarded, delayed, etc. – it doesn’t matter what you want to call her, she’s not normal like the other kids. She has quite a few problems plus her IQ is below average. (All stuff we’re familiar with.) Our sibling is now in her 40’s and let me tell you, you don’t know what the future holds and you don’t want to. Some things get worse and some things get easier to deal with. If you love her and care about her, you’ll deal with it. Just like we have. We make the best of our situation. And deal with things as they crop up as she gets older.

        If you don’t mind learing about various medicial conditions and disorders, that’s fine. (I personally don’t either.) I just didn’t want you to drive yourself crazy and end up frustrated with no answer. And don’t ever worry about what other people want (in terms of a neat answer to define her) – life doesn’t always give us that and it doesn’t matter. If people can’t handle the truth (that we as humans don’t know everything) shift the focus away from her troubles and instead talk about what you are actually doing to try to help a certain situation (like potty-training). And I would keep looking for things to help her so she will have the best life possible.

  16. Oh, and one other thing, the majority of people will see your child as a burden and with little worth, but that just isn’t true. Everyone who’s alive has a place here on earth and a purpose. I have already seen that fulfilled with my sister and I know your daughter has a reason for being here too. It’s tough dealing with the hard parts of taking care of her but there are good parts too. So just do what you can and remember as she gets older, share in the care or otherwise, you’ll get burnt out!

    1. Well aren’t you just a bowl of sunshine? LOL! Tell you what – you keep doing things your way, and I’ll do things mine. Thanks 😀

      1. Wow. I’m sorry you even had to deal with those ^ comments. Some people may mean well but have the manners and subtly of a pack mule.
        Your daughter is adorable, btw!

  17. very well written picture of your lovely daughter! We’ve got a son with handycaps, aged 40 this year and still living at home. I once read a quote by Rudolf Steiner which seemed very fitting :” a person with handycaps is like a pianist, playing his melodies…. but he has only got a piano that is out of tune…” All the best for all of you.

  18. Thanks for sharing Maura with us. Although her challenges may include more than the usual chidhood laundry list, she sounds like a bundle of fun and frustration like every other kid! Her personality really shows in the pictures you included, and she is lucky to have landed in your family, methinks. And I love her name!

  19. Dear Phoebe, I love reading your blog – even though life can be difficult – you do so with humor. Your family will surely thrive with your attitude! Our daughter, Beth, became ill at the age of 5 with horrendous seizures – she would have over 100 per day. After many cat scans/MRI’s, EEG’s, we were told she had Rasmussen’s Disease which meant the removal of the infected hemisphere. She had her left hemisphere removed two years later. She is now seizure free at thirty-two years and a pure delight! She has an incredible sense of humor and lives her life to make others happy. She works with kindergarten kids, loves art, reading and writing. She has a facebook page called The Kind Side to prevent bullying and to spread kindness. Maura is gorgeous and she will be happy – because her mom is!

  20. I love your blog….your incredible ATTITUDE and passion to be such a great mom to Maura and your other wonderful children. Thanks for sharing a little bit of your world with the rest of the world. You are an inspiring woman!! May God bless you with all sorts of JOY today!!

  21. I found your blog through the writing related to the use of the word “retarded”. I love your writing and look forward to your blog updates (being adopted in recently found out I’m half Irish so the stories of adjusting to life in Ireland are fascinating). I love your stories, your perspective on life, adventurous spirit, and never ending love for all your kids. I started my career out of grad school in 90 in a sheltered worship, and I LOVED the job (unfortunately the pay is so low that eventually I moved on to work in Insurance). While at the sheltered workshop is had amazing clients with everything from paraplegia to mental illness to down syndrome to undiagnosable conditions. People who weren’t in the field or didn’t have a family member with a disability often didn’t understood that, for example, people with Down Syndrome range widely in functional abilities. I loved when one of my clients would put someone in their place and we’re so confident in themselves and loved themselves and wanted the world to know it. It’s truly unfortunate that sheltered workshops are disappearing. They were vital to the clients and helped them feel they were going to work just like others in the world.

    Now I’ve been out of work for 3 yr due to spine problems from top to bottom, so I understand? What do you have? ” questions as if I have a single diagnosis but I don’t.

  22. Maura is beautiful, just beautiful, and you and I both know, she is a gift from God. Thanks for the laughs from your blog. I’m right behind you in wanting to write a book. I need to get off my arse and start blogging or just write the book! I, too, am from Chicago 🙂

  23. Thank you for telling us about your beautiful daughter! We have a daughter 8 1/2 years, adopted at birth who is in the Autism Spectrum. We love her dearly just the way she is. We take it a day at a time and enjoy every single accomplishment with her. She is who she is, and we feel that she fits perfectly into our family puzzle. When you are the mother of a special needs child, you view the world a bit differently. Not just through your own eyes, but you also start to see things the way your child sees them. It is a unique perspective. I wish everyone could see life that way, it would really change many minds about how they view special needs children. It would help them to see the child, not the need. Keep blogging!

  24. Thank your for sharing your beautiful girl with us. This post made me smile. This line in particular hit me: “Maura’s a cute bundle of incapability.” I love your honesty. It’s refreshing. I also love that she loves “Doctor Who”. Smart girl! The Doctor is the best.

  25. She is absolutely lovely. And she was given to the very best mother imaginable. You are blessed and you are very special.

  26. I am so surprise to read “Phelan-McDermid Syndrome” in a text from someone who doesn’t have a child carrying this particular chromosomal deletion! It looks like it is a common syndrome now that doctors want to rule out in their first bloodwork! I say that because one of my daughters have PMS and I never met a single health professionnal to whom I didn’t have to explain everything about that syndrome… Things are slowly changing 🙂 Enough said about me! Your blog is beautifully written and as I read the description of Maura, I just want to get to know her and her hole awesome family! She is so lucky to have you as her mother (that’s how I see things sometimes to cheer me up!) and all the family members she has around her to give her the chance to be the best she can. (my english seems to be not that good tonight… Hope I expressed myself correctly and apologize if anything looks disrespectful).

    1. Well, it’s b/c I was so certain Maura had P-M Syndrome. It suited her so well! But genetic testing ruled it out. I was kind of disappointed. Having done so much research, I’m aware of lots of syndromes most people have never heard of.

  27. Sounds like you are fairly comfortable about not having a diagnosis. I can understand your line of thought there and it is perfectly reasonable. Having said that, I am surprised that they ruled out Autism. My son has Autism and he never regressed. He was different from day one.

    You are doing a great job and I thoroughly enjoy your posts. It helps to know that I am not alone in some of the challenges I have faced now for 21 years.

    1. Why surprised? She has seen several specialists and a multitude of therapists. Surely if she was autistic, someone would have said something. But she’s not. I am very familiar with autism. The therapists I’ve taken her too are very familiar with autism. She does have a speech problem that’s common in children with autism (apraxia), but that’s as far as things go.

      I do appreciate the sentiment behind the comment, but you have to trust me when I say I’m confident she doesn’t have autism.

  28. I trust you. 😉 Perhaps I misspoke. All I meant was that one should not rule out autism simply based on the fact that there was no regression. When I first read your post, I saw where you said, “We’ve ruled out autism (she has never had regression or loss of skills).” and I assumed that was the basis for your decision to rule out autism. I know you have a well-deserved wide readership and I thought it might be good to point out to someone struggling that regression is not always necessary for a diagnosis of autism. My bad — I didn’t express myself well.

    If it would help someone else to get more services with a diagnosis of autism, then I wouldn’t want that ruled out prematurely. I am sorry if I offended you.

    1. I was not offended by your questioning of it. You cannot possibly know how many people have asked me “Are you SURE it’s not autism?” And even if I say “Yes.”, they’ll try to prove to me that it is.

      We have gotten autism ruled out by a pediatric psychologist who did an autism specific evaluation. But even when I bring that up, the topic of regression comes up – hence why I mentioned the lack of regression/skill loss. It even happened with a geneticist, when we were ruling out Rett Syndrome – he asked about regression/loss of skills. It’s part of the Q&A I get when it comes to Maura. That’s all 🙂

      1. Sorry to pipe in here at such a late date, but I would just like to say the “no regression” confused me also. I associate regression with Rett Syndrome (which is considered on the Autism spectrum – but is not what I think of when I think of autism) but not with autism generally. Still unsure about what connection regression has to autism in general. (But absolutely prepared to accept that Maura does not have autism!) That said, love your thoughts and comments. I could put so many “agree” comments here, I would be all over it. Particularly about other people not getting it. Our grandson has MecP2 duplication [which is sometimes considered Male Rett’s, involves the same gene] (and other duplications – so still very much an unknown). The difference for us is, Maura, and so many of the other kids whose stories are here, clearly have a lot more ability, and dare I be brutally honest and say – visible personality (or at least, more happiness, and some control over their life [- it’s hard to find the right words]) than my grandson; so while loving your perspective and how well you can present it – part of me , almost , hates it.
        Because we are not even there; we have so little we can say: “we got a couple of little grins today” is an achievement. Though I would like to add your own caveat, that no matter what I say about how hard it is, or how little he has – does not change one iota how much we love and care about him. But people don’t always get that caveat, and it makes it hard to have an honest, sensible talk with anyone. People always seem to feel the need to dis-credit what we say, and to present us with a “cheer up” story.
        Similar to what you have said, barring a miracle, he is not going to get better, and now that he has started to have all kinds of seizures (basically uncontrolled by medication) he is going to gradually lose all his slow and hard-won gains.
        I too love your words “a cute bundle of incapability”
        I was at first taken by the words from Reinhard Worbs “a person with handycaps is like a pianist, playing his melodies … but he has only got a piano that is out of tune..” (Rudolf Steiner). They made me think. I appreciate the intent, but it is not quite right; not the best simile, not for children who are more abled than my grandson, and can produce wondrous melodic art – nor for children like my grandson, whose problems are far beyond a piano being out of tune (the legs to this piano will not hold it up, and the keys do nothing) but are still more beautiful than any music.

  29. What an amazing little girl. 🙂 Your statement that Maura is “a strange combination of ability and disability” resonated with me so much- it’s very much what I see in my own daughter, such a blend of strengths and weaknesses and they are often very unpredictable.

    Like Maura, she also has epilepsy and the location of her seizure focus plays a role in this (parietal area, affecting her processing a great deal.) My daughter’s seizures, disabilities and EEG tracing suggest a specific syndrome of some sort but we don’t as of yet know what it is.

    I enjoyed the writing I’ve seen thus far and will be looking through more of your entries!

  30. This is my daughter. I read this in tears. She came to us 7 months ago, (foster care) and specialist after specialist said “she’ll catch up” until we found out about the seizures and the herpes virus that damaged her brain. She’s not going to catch up, but she’s still our girl. Thank you for the encouragement, this knowledge is still new and fresh and heartbreaking to us.

  31. hi, i just wanted to comment on how beautiful your daughter is, she has an amazing smile. i am sure she is truly a gift and pleasure to see every day, as are my 3 children. i wish you and Maura the best and keep on smiling. you are doing a great job with her.

  32. WOW, what a testimony of love. Thank You for sharing, I will regard the “word” differently now. Such a lovely smile.

  33. I’m a single mom with a ‘normal’ 18 year old, an autistic 17year old and a 12 year old with Noonan’s Syndrome who is also Deaf.
    We were ‘lucky’ enough to get a diagnosis for our youngest when he was 48 hours old. By the time he was 2 months old he was having open-heart surgery.
    My three boys are my joy.
    Life is awesome, isn’t it?

  34. Thank you for sharing Maura’s story, she is beautiful and blessed with a wonderful family. My dauther was diagnosed with congenital dysphasia at the age of 4 years old, and then developled OCD at the age of 19. Now at 22, she is doing great, takes University level courses, acts in a local player’s group, drives a car, has full-time job, will soon be moving out on her own and has a boyfriend she really loves. I was told by some “experts” that she would not get passed perhaps grade school, she would have issues socially, etc. etc. She has exceeded all expectations x 1000, and she is absolutely amazing, as your Maura is and will continue to be because she has a family that believes in her, and all her own personal potential still to develop. I look forward to following your blog.

  35. Glad to have found your blog. I too have a special kid who is “a strange combination of ability and disability.” 🙂 I admire your move to Ireland…makes me think there’s so much we could be doing too.

  36. Our boy has kept us guessing for 3 years now and there seems to be no end. We adopted him from foster care. He was 4 when he was given up for adoption and spent 9 years in different foster homes. He has spent most of his school years in special classes and although he his now 17 he has difficulty understanding level 1 books. He can for the most part read the books but has little comprehension. The teachers are instructing him in multiplication but he has difficulty in adding and subtracting. He is the master of “fitting in” and knows all the phrases to apear as though the can follow converstations but if you pay attention he is copying your behaviour and actions. He is also the master of “wait long enough and someone else will finish this for me” I once saw him sit on his chair for 3 hours refusing to say a 3 letter word on the board. He can outwait you every time. He wants all the good stuff a teen gets with only the effort of a 5 year old. He has no concept of hungry and full. He could go all day without eating or stuff himself until he vomits. He does not chew his food well but is fully capable of going to the bathroom by himself. We honestly do not know what he understands when he always says “OK” and nods his head. I have seen him struggle with the concept of a screw driver but at the same time he changed the wheel on his mountain bike getting it past all the gears and chain. He does not show empathy. He will be happy, sad or mad. That’s about it. If you are angry he gets angry back. He knows how to lie and will do what ever it takes to save himself when caught eating the cookies. He knows how to surf pronography on Mom’s laptop and then deny it to the bitter end. He will do everything for the purpose of getting it done (right or wrong) rather than live the experience. For 3 years I have to remind him that if he wants “seconds” at dinner he has to ask. I know he is hungry but he rarely asks without being told to ask. He has no diagnosis and at this point what would it matter. Yes there are days we feel he is messing with us on purpose. That could easily be part of his years in the foster system where people were payed hansomly to care for him so they never bothered adopting him. He is a never ending mystery

  37. Maura is beautiful, and inspiring. I wish you all the best of luck in helping her grow up and have a wonderful life, even if she never “lives on her own” or reaches “normal”..who cares? Normal is overrated. She is a beautiful blessing, and I teared up reading this. Hugs.

  38. Maura is truly beautiful and I know she will make the best of her life. Thankyou for enlightening those of us capable of some understanding.

  39. I was a teacher of children with learning challenges for several years. The term “delay” is frustrating because I’ve always felt like can’t the child just be who they are and not delayed in reference to others. If this offends you, please forgive me. I had a professor in graduate school who referred to kids we studied as “consumers of special services.” Interesting… I can see that you have been through the gamut of tests galore. I have a child with some different challenges and after spending 7 days in the house without leaving, I certainly understand your need for respite!

    1. I have issues with the term “delayed” because it is too vast. So when the nurse called last week to go over stuff for the EEG, she said “She has delays I see, what age would you put her mentally?” I said about 3 years, and she replied with “Wow, so she’s REALLY delayed.”

      Except in so many ways she’s not that delayed., yet she’s more than just delayed.

      I now tell people she has moderate cognitive disabilities. They still don’t comprehend.

  40. Way to go, Maura! I’m an OT and am always amazed at what children with special needs can do. How exciting it is when they learn a new skill that they were not suppose to be able to do. You must be one proud Mama!

  41. wow, My son is also special and in most ways sounds like your daughter. I havent really done any tests. I guess I still consider it. I have accepted that he is apraxic. I believe that is a condition itself. I think it affects everything for him. His speech is the the biggest concern now, but he is 4. He is not good at coloring or tracing but strangely with help can write his name really well. Point to the part of the page to write and he is fine. I pretty much new he wouldnt outgrow it from the get go. Everyone told me the more therapy I do, like everyday or something, then he could catch up. I am like, no, it doesnt work that way with nolan. People were rude and still are and they mean well I guess. I think everyone wanders if he is autistic and sometimes I just say maybe, but I know its different. I guess it just seems like I fit in better with autistic parents anyway because they get it more. I dont really worry that much about the future. I have no clue where he will be. My uncle in slow and has special needs. He has a good life. He worked, had and still has many friends, and even had girlfriends who also had special needs. Its pretty cool. Its harder to have a child with special then a uncle though. thanks for the blog, it actually helps to know there others like him. Good luck to your family

  42. Hi, I just found your blog via a post on a special needs board that I belong to. First, just wanted to say that Maura is beautiful; she has a wonderful sparkle in her eyes! She reminds me so much of my daughter who is 4. To me they look very similar, and Maura’s laundry list seems almost exactly like my daughter’s minus the seizure activity (so far). Not sure where we are on the cognitive scale yet, but like Maura, she Is an almost unfathomable mixture of abilities and disabilities. In our case, we do have a diagnosis of partial trisomy of chromosome 20 that was picked up during amnioscentesis. Even though there is no one out there “exactly” like our sweet pea, and thus no real “knowns” that we can work with specifically, I’m glad to have the diagnosis because it gives me a starting point with my research. Thank you for sharing your experiences … if there is one thing I’ve learned since starting this journey is that sharing with others (both the bad and the good) helps so much. Please always feel free to email me if you want to … I can send you pictures of my daughter then to see if you see the same similarities that I do.

  43. Hi,

    I really enjoy reading your blog and I think you do an amazing job of showing all the angles of your life with Maura.
    I’m sure you’re sick of people suggesting conditions etc, but has Maura been tested for Rubinstein-Taybi Syndrome? Some of her facial features seem very similar to the features typical to patients with that syndrome.
    Sorry for being another annoying person with suggestions, but I didn’t see it mentioned in your list and thought it might be worth asking about.

    Wishing you and your family a good start to your school year

    1. Okay, so I looked that one up, lol! But in going through its main features, Maura’s toes and thumbs are actually slender (long slender fingers are weird in my family, lol), and she’s pretty normal in the height department (always has been.)

  44. My beautiful nephew, now 8, has a plethora of things that are “wrong” with him for which the testing never ends and which started at the age of one. Like Maura, one of the things he has is hypotonia. He also has sensory deficit disorder, aspergers, some weird food allergies and on and on. It seems like every year a new diagnosis appears on his list. His IQ is off the charts – he reads at an 18 year old level, can code computer programs etc. He also, however, cannot handle much life throws at him in terms of emotions and things that involve sense. He has meltdowns that are becoming worse and worse as time goes on. These make it very tough for him on a daily basis. My SIL is my personal hero for the time and attention she devotes to my nephew – getting him all the traditional medical help and therapy he needs and now delving into naturopathic and homeopathic remedies, as well. My nephew is one of the most loving human beings I have ever met, as well as the most compassionate. He blows me away with this on a regular basis.

    At ANY rate, I felt the need to leave a comment because what you wrote about Maura resonated with me. I, too, have epilepsy and know how it affects you. Mine is under control but not gone, will never be gone – and I’m about to turn 50. And my life is amazing. My nephew has all of his disabilities but I see joy in him more times than I see his scary meltdowns. I have shared this page with my SIL just so she can read someone else’s story and maybe not feel as alone and overwhelmed as I know she must feel sometimes.

    So thank you, from a complete stranger, for a story that has touched one person and hopefully two.

    p.s. I found your blog because Huff had a post on your “over 30, eff you millenials” post. And it resonated. At almost 50 I have pink hair (and yeah, it pretty much rocks), wear Chucks, love red lipstick (apparently that’s a no-no), wear whatever I want and feel like I look better than those young clones. Maybe it’s because you and I are both creatives (I’m a designer). Maybe it’s because we’re just weird. Or defiant. Or gypsies. But ‘aint it great, no matter what the reason? 😉

  45. Maura has Ehlers Danlos Syndrome. It’s a connective tissue disorder typically associated with hypermobility, but there is increasing awareness that EDS often occurs alongside all kinds of seemingly unrelated conditions. For this reason, I believe, EDS will make it the next big medical thing. Until recently, the medical community has largely ignored it, so there is no cure, but the DIY medicine movement is helping tons of EDSers. A woman who lives in Portland (where I live) has a blog that provides comprehensive information: ohtwist.com

    1. We have actually asked about EDS. She’s hyper-flexible but not overly-so. She has never dislocated anything. Her skin is not elastic-like or stretchy, and she does not easily bruise. There is zero family history.

      I looked into this possibility years ago when I met a mom whose child has EDS.

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