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Rett syndrome and mobility

03.01.14

It’s estimated that 50% of girls and women with Rett syndrome can walk. This leaves the other 50% using wheelchairs and other mobility aids like hoists, standing frames and sitting solutions.

People generally take walking for granted. There are so many functions in our bodies that are aided by our ability to be upright.

Scoliosis – It’s not clear whether being non-mobile adds to the risk of scoliosis in a girl with Rett syndrome. It’s been reported that even placing a child in hard vests or other non-surgical interventions doesn’t prevent the worsening of scoliosis. Be that as it is, it’s still advisable to always help a non-mobile person maintain proper posture. For a non-mobile person, this means a programme of posture maintenance which includes wheelchairs, standing solutions, sleep systems, etc.
Bodily functions – Many of our bodily functions rely on us being upright. Urinary health, bowel health, kidney functions, etc. are aided when we spend portions of our day upright and walking around.
General Health – Non-mobile people experience illnesses differently from those who can walk. Ear infections, chest infections…they all hit a person harder and linger longer when the body isn’t functioning as it should. For instance, a non-mobile child may experience “glue ear” for longer than a child who can walk.
Bones – I talked about osteoporosis a while back and one of the listed ways to prevent brittle bones was weight bearing exercise. A person who doesn’t weight bear is at a higher risk for brittle bones.
Lung Function – Your lungs can’t reach full capacity when you’re scrunched down in a sitting position.
Joints – Hip dysplasia (displaced hips) are a threat for kids with Rett, moreso for those who aren’t mobile.

While all of this can seem pretty grim, we’re so very lucky to be living in the times we’re in because there are many interventions available for non-mobile people to strengthen their bodies:

Wheelchairs – Obviously, the first piece of equipment a non mobile child will require is a wheelchair. In the UK, the referral for this comes through your occupational therapist and it can tak a very long time for your first assessment to happen. Bear this in mind and be aggressive about getting that referral through as early as possible. In the USA, the process looks much different. We’re in the UK, so we asked our American Facebook audience to tell us how it works. Melanie K. came back to us with this fantastic answer: “Typically, a doctor writes a prescription for a wheelchair. Then a rehab specialist (OT or PT) and a rehab tech supplier do the wheelchair evaluation. Then a letter of justification is submitted to a third party payer by the evaluation team. These payers are either private health insurance companies or Medicaid (joint state and federal funded program).” Grace currently uses a chair which is a RideDesigns custom seat on a Zippie base. We’ve also enjoyed a couple different Ottobock chairs in the past!
Standing frames – It’s highly recommended that girls with Rett have a programme of daily standing in place. More on this in a couple days. It’s a weight bearing exercise that strengthens bones, aids in the prevention of osteoporosis and allows for full lung expansion, which is especially important since girls/women with Rett can suffer with recurring chest infections. Standing also aids in hip formation and can aid in the prevention of hip dysplasia. Grace currently uses a Jenx prone stander
Standing wheelchairs – Standing wheelchairs are a rather new invention but they’ve certainly caught our eye as a fantastic way to get your non-mobile kid up and moving around in the world in the way anyone else would.
Walking – If your girl can walk, get her UP! Some children lose the ability to walk during regression or even after, but make the most of it while you can and know that some kids get their walking back after regression. If your child has suddenly stopped walking, explore the possible reasons. Fear (a recent fall?) or pain (hips?) could be to blame. Encourage her and get her up as much as possible.
Physical therapy – When a person is unable to bear weight on their own joints, physical therapy can help you do it for them. In addition to helping form the joints, bearing weight on your joints sends signals to your brain about your body. Non-mobile people need help doing this through various therapeutic interventions which can be easily woven into every day life.

There are so many additional needs for girls & women with Rett that things like wheelchairs and the abovementioned equipment and interventions just become part of your everyday life. If your child is newly diagnosed, please know that this will get easier. I never thought I’d never get used to the added struggle of managing a life full of equipment, but you know…it really did get easier. Hang in there.

Rett syndrome and osteoporosis

02.28.14

This is Charlie —> I took this photo at one of the Cure Rett Picture the Hope Awareness Tour photo shoot days. And then just a day or two later, she fractured her femur at school. She wasn’t doing anything spectacularly taxing – just hanging out in the sensory room. She was simply moved and that’s when they believe the fracture happened.

At that very same photo day, I met Kathryn (age 17) who has also suffered a break to her femur. And this got me thinking – maybe we should talk about osteoporosis.

It’s estimated that 40% of girls and young women with Rett suffer osteoporosis which causes their bones to be brittle. Osteoporosis is a disease of the bones that is marked by decreased bone mass. This puts sufferers at a higher risk of bone breaks.

There is no cure for osteoporosis and although there are ways to prevent or decrease the chances of developing it, most of those measures aren’t practical for those with Rett because they involve physical abilities which many girls just don’t possess at the time of their lives when prevention is key. Prevention of osteoporosis comes in three departments: lifestyle, diet and medication.

[LIFESTYLE]

Some ways that the general population who are at risk for osteoporosis are recommended to live their lives are:

Kathryn has also broken her femur

Smoking and drinking. Tobacco and high alcohol intake are associated with osteoporosis. Obviously, people will Rett don’t smoke or drink. But limiting their exposure to second hand smoke is smart for many reasons and this is one of them.

Weight bearing exercise. Exercise is a very important part of keeping your bones strong and healthy. Running, weight lifting and resistance exercises build bone density. What does this look like for people with Rett? Well, walking is a good start. Girls and women who are mobile on their feet will be at a lower risk for decreased bone density, although it doesn’t eliminate the risk all together. For those who aren’t mobile, a regimen of physical therapy including time every day in a standing frame is important. But this doesn’t mean that a mobile girl with Rett can’t get it. Kathryn (left) walked until she was 8 and at the age of 11, her femur snapped and she was diagnosed with severs osteoporosis. She now has Pamidronate infusions in hospital every 3 months.

Fall & injury prevention. It’s not uncommon to hear about the elderly suffering hip breaks from falling. This is a result of brittle bones coupled with a fall or injury. The fall or injury doesn’t need to be especially traumatising. As we heard about Charlie at the beginning of this post, she was merely moved from one position to another when she suffered her break. So like with the elderly who have osteoporosis, it’s important to take all possible measures to prevent falls or injury to our girls and women with Rett. For those who are mobile on their feet, this takes constant and intensive supervision. For those who aren’t, it’s important to make use of all available prevention measures such as hoisting rather than lifting and a limited number of transfers from one piece of equipment to another.

[DIET & SUPPLEMENTS]

Interestingly, the idea that calcium and vitamin D will prevent osteoporosis isn’t altogether true. There’s some evidence that supplementation for postmenopausal women can be helpful, but this doesn’t necessarily have an effect on girls and young women with Rett. In fact, too much calcium (which can’t be absorbed without vitamin D) can cause constipation (which is already an issue), gas and kidney stones. Luckily, kidney stones are known to affect men more often than women, but the lack of verbal communication for those with Rett means eliminating as many pain-inducing conditions as possible is of utmost importance because, quite simply, they can’t tell us what hurts.

If you want to naturally enhance one’s diet, dairy isn’t the only (or best) way to get calcium into your body. In fact, dairy can cause increased phlegm, constipation and acid reflux and all of these are risky for our girls who already so often suffer with those conditions. Better ways to get calcium in your diet are green leafy vegetables, nuts (especially almonds) and soy. Vitamin d3 (not d2 which is commonly found in supplements) is necessary for calcium digestion and utilisation. This is found in the fish oils which many give to their children with Rett. However, the best source is good old fashioned sunshine.

Now, calcium is an element so if you have to think about it this way: eating foods that come out of the ground which have absorbed calcium from the earth vs. eating animal secretions composed of digested foods that come out of the ground. It’s better to go straight to the source so you get the most bio-available nutrients, hence getting your calcium through veggies rather than dairy

If you’re going to take a calcium supplement some suggest mixing it up. Take calcium carbonate one day and calcium citrate the next, for example.

[MEDICATION]

There are medications available to people who have already suffered breaks as well as for those with osteopenia which is known a precursor to osteoporosis, but these treatments are considered controversial, the benefits are slight and can take 4 years to begin to affect bone density. Additionally, they’re usually only available to postmenopausal women whose osteoporosis is due to hormonal changes, not for those who suffer it because of lack of mobility or insufficient diet.

A note on osteopenia: Osteopenia was first introduced in 1992 as a sort of one-step-before-osteoporosis condition. The diagnosis of both conditions involves a bone density test (a sort of x-ray) and with osteopenia, the bone is less dense than normal, but not enough to constitute osteoporosis. Being that there is very little that can be done to treat these conditions, the introduction of this new diagnosis is said to cause pointless worry.

[Conclusion]

As Rett parents, we know there’s no end to things we can be worried about for our kids. Heck, even our kids who don’t have Rett can cause us sleepless nights! But I believe that knowledge is power and getting educated on all facets of this Rett life will help us better face it. So if you take only a few things away today when it comes to osteoporosis, remember this: 40% of girls with Rett will have osteoporosis in their lifetime. So be careful with their bones and seek advice from their doctors. Not all doctors are aware of the things that a patient with Rett may face in their lifetime so arm yourself with the information you need to help her doctor(s) see the importance of looking into osteoporosis as she grows older. And one last thing…worrying too much won’t do a darn thing.

[further reading]

Calcium and Vitamin D from the National Osteoporosis Foundation

Osteoporosis on Wikipedia

The DSM-5 in Plain English [is Rett syndrome autism?]

02.26.14

by Elizabeth Halford, with contributions from Steve Kaminsky, Ph.D., Janice Ascano, Ph.D., Paige Nues and Kori Coates.

Last year, the 5th edition of the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V) released. It’s been 19 years since the DSM was last updated. The fourth edition (DSM-IV) was published in 1994. Until now, Rett syndrome has been in this diagnostic manual under the umbrella of autism. Today, it comes out from under that heading. How will this affect the Rett community? Is it good? Bad? Neither? This post aims to explain this complex issue in plain English.

WHAT IS THE DSM?

In order to explain why this book matters, let’s look at what it is. The DSM is the standard classification of mental disorders used by health professionals in the United States. According to psychiatry.org, “It can be used by a wide range of health and mental health professionals, including psychiatrists and other physicians, psychologists, social workers, nurses, occupational and rehabilitation therapists, and counselors. It is also a necessary tool for collecting and communicating accurate public health statistics.” This means that health professionals use this manual in the diagnostic stage but it’s also a general reference as to where different disorders lie in the scale of things.

IRSF’s Rett Gazette Summer 2009 newsletter (pg. 13) reported on this when announcements were made to update the DSM. It explained very well the purpose for diagnostic manuals such as the DSM in saying:

Numeric coding systems exist in order to organize most things in our lives – barcodes for groceries, Dewey decimals for books, social security numbers, license plate numbers, employee id numbers….the list goes on and on. Numbers minimize language differences and interpretations, and in theory allow people and computers to better track and process important information efficiently.

In the medical community, there exists a worldwide numeric classification system to diagnose all known diseases, disorders and syndromes. This system encourages consistent understanding of the diagnosed individual across specialists, care and treatment recommendations, and correct billing for services rendered. As much as this makes sense, it can also feel limiting to reduce a person, particularly our children, to “a number”. And oftentimes, the very system which should provide clarity, leaves enough room for interpretation that it can be more confusing than clear!

Now, those in the UK may be wondering if this applies to them since the DSM is American. According to Hilary Cass’ article for SEN Magazine, the DSM is also used in the UK in addition to the The International Classification of Diseases (ICD) which covers all other (non psychiatric) diseases. In that article, she states, “In DSM-IV, ‘Rett’s Disorder’ is an official diagnosis within the family of autism spectrum disorders. In DSM-V it is planned that Rett syndrome will be removed from the autism group. In fact, the recommendation is that it will be removed altogether from DSM-V.”

WHY MENTAL HEALTH?

So now you may be thinking “Rett isn’t a mental health issue. Is it?” Autism is treated as a psychiatric disorder and has no known genetic cause. However, we know that Rett has a known genetic cause and is a neurological disorder. But is it also a mental health issue? Although a child with Rett could also have a diagnosis of autism, they are two very different disorders.

In his first public presentation on the new changes, Dr. Walter Kaufmann spoke on the subject at the Seventh World Rett Syndrome Conference. He stated that autism is a behavioral diagnosis with multiple causes. The new, more restrictive, guidelines for autism may decrease the number of Rett girls also meeting criteria for autism.

WHY AUTISM IN THE FIRST PLACE?

According to SFARI, “In the current edition of the DSM, Rett syndrome is listed as one of five autism-related conditions, along with Asperger syndrome and childhood disintegrative disorder.”

The genetic cause for Rett was discovered in 1999, five years after DSM-IV was published. So quite simply, we now have a known cause for Rett which means having it under the heading of autism no longer makes sense. Rett and autism do share some attributes which makes it understandable that it would have been first classified this way. Hilary Cass states (here) that, “Now that it is clear that Rett syndrome is a biologically caused condition in its own right, it no longer makes sense to have it as a type of autism.” She goes on to say that the reclassification is a good thing because, “…it allows us to make a much more individualised assessment in each girl as to whether she has Rett syndrome and autism or just Rett syndrome, and to plan accordingly.”

However, it’s not necessarily black and white because some people with Rett have atypical Rett. Which means they only have a clinical diagnosis and not a genetic one. Not all people with Rett have a MECP2 mutation. So the logic to remove Rett from the autism spectrum purely because we now know the genetic cause does have some grey areas.

However, not everyone is in agreement with this change. You may be familiar with Huda Zoghbi whose team first discovered the genetic cause for Rett in 1999. She says of this change (here), “girls with the mildest form of Rett syndrome have symptoms only of autism, and none of the other Rett characteristics such as seizures or difficulty walking. Autism is a clinical diagnosis. Now you throw it out, just because you found out they have a mutation? It doesn’t make sense to me.”

WHAT NOW?

So where will Rett lie now that it’s being taken out from under the umbrella of autism? Rett (according to SFARI) will no longer appear in the DSM at all.

Under the new guidelines Rett syndrome will not be a specific autistic disorder. Although an individual with Rett syndrome and autistic disorder will be diagnosed as “Autism spectrum disorder associated with MECP2 mutations (or associated with Rett syndrome)”. Thus, an individual with only Rett syndrome who does not meet criteria for autism spectrum disorder will not receive a DSM diagnosis unless other mental health disorders are present (e.g., anxiety, depression, autism).

HOW THIS MAY AFFECT YOU

How could the reclassification of Rett as an autism spectrum disorder practically affect your Rett child and your family?

Monica Coenraads of RSRT fears this reclassification could impact access to services in the US. She states here, “…I am quite concerned about the loss of potential services that the removal of Rett from DSM-5 may cause. It would be a pity if school districts decided to no longer offer these services based on a reclassification.” That is, that perhaps Rett no longer being considered autism could minimise the accessibility of services usually available to children who are diagnosed with an autism spectrum disorder. In this post from 2010 when the DSM revisions were first being undertaken, Monica says, “I think worries about losing medical services are probably not warranted. Worries about educational services, however, I’m much more concerned about. For example, it may become more difficult to obtain intensive ABA (applied behavioral analysis) programs and other educational supports where autism has blazed a trail.”

THE FINAL WORD [THE PLAINEST ENGLISH YET]

Now that you’ve read all that, I’d like to leave the final word with the excellent family support directors of IRSF and Cure Rett because they certainly know how to talk in terms that make sense to us parents and laypeople.

Paige Nues, IRSF:

“It is the definition of autism that is changing, not the definition of Rett syndrome. Therefore, instead of Rett = ASD, now Rett = Rett, and autism becomes a part of the constellation of diagnoses she may carry. For example:

Alice has Rett syndrome, confirmed by clinical features and MECP2 screening (genetic diagnosis)
AND Alice has epilepsy, confirmed by video eeg monitoring and frequency of episodes (neurologic diagnosis)
AND Alice has dysphagia, confirmed by swallow study and GI/OT/SLP evaluation (gastroenterologist diagnosis)
AND Alice has autism, as confirmed by xxx evaluation (mental health, psychiatric or developmental pediatrician diagnosis)
AND Alice has Long QT, as confirmed by ekg monitoring (cardiologist diagnosis)
AND Alice has scoliosis, as confirmed by xray (orthopedic diagnosis)

From our perspective, the genetic diagnosis should lead as the core identifier for the child. It is the first lense we should apply when assessing treatment, care, services, supports, interventions, and community.”

Kori Coates, Cure Rett:

“Change almost always leads to feelings of uncertainty. When it’s unclear if those changes will have a positive or negative impact, uncertainty can actually feel a lot more like uneasiness. It’s a fear of the unknown in a life where so much is unknown. But we do know this: when DSM-4 was released, Rett syndrome was a much less well understood condition than it is today. All the research and studies – like IRSF’s Natural History Study – that’ve been done up to this point have helped to clarify the issue tremendously.

From my perspective it’s a type of cure. A cure for misconceptions about the nature of Rett. We know that during the regression stage, many girls display autistic-like characteristics that either diminish or disappear completely once the regression has passed. We know that sometimes these characteristics remain as part of the overall picture and, in those cases, there may be a dual diagnosis of Rett and autism. As research continues, so too our knowledge increases and what was unclear becomes clear. And there’s no uncertainty about that.”

{further reading}

A class apart – Hilary Cass article in SEN Magazine

Reclassification of Rett syndrome diagnosis stirs concerns – SFARI

Rett Syndrome and the DSM-V – an interview between Monica Coenraads and Huda Zoghbi

Teaching Girls with Rett to Read and Write – Rett University

01.28.14

Note: there’s video in this post. If you can’t see it, click here.

The biggest thing that separates humans from other beings is our ability to read, write and communicate. If we don’t give girls with Rett the tools to do this, we’re willfully taking away their humanity.

I learned that from Susan Norwell, one of the most groundbreaking educators I’ve ever had the pleasure to meet. 20 something years ago, Susan had a girl with autism in her private practice. She taught her to read, write and communicate like she would any child with that level of disability. Then, the girl was re-diagnosed with Rett syndrome and Susan has an awakening. She told me, “I thought to myself ‘this is the same brain as before. She’s just locked in.'” That started Susan on a journey of discovery whereby she has formulated a tried and true method for reaching into the world of these locked in girls and helping them to realise their potential – to read, write and effectively communicate.

In partnership with Girl Power 2 Cure, Susan is launching Rett University designed for educators and therapists of Rett Syndrome students. Experienced professionals share their cutting-edge knowledge on how to support their students with Rett Syndrome and push them to their highest levels of academic, physical and personal achievement.

PLEASE watch this promo below and vow with me that

no girl will be left behind

Rett University is an e-learning platform specifically designed for educators and therapists of Rett Syndrome
students. Experienced professionals share their cutting-edge knowledge on how to support their students with Rett Syndrome and push them to their highest levels of academic, physical and personal achievement.

• help your student/child learn to read and write
• develop real communication skills
• learn strategies for sensory regulation
• learn where to start when initially diagnosed to build communication and appropriate expectations
• develop effective appropriate IEP goals

Rett University is brought to you by Girl Power 2 Cure in partnership with Susan Norwell, a world-renowned Rett Syndrome education and communication specialist; and Udemy.com, a leading e-learning company.

One boy’s wish to see his sister free from Rett – a letter to Santa

12.16.13

Note: there’s video in this post. If you can’t see it, click here.

Oh my goodness the internet atonishes me sometimes. I posted a picture of Elijah’s letter to Santa on Facebook last week and this Father in Missouri got a hold of it and read it to the congregation. There used to be a video of it but they deleted it and so you’ll just have to read the letter for yourself!

A little film for Grace’s birthday

11.25.13

Note: there’s video in this post. If you can’t see it, click here.

Yesterday was Grace’s 5th birthday. Pretty much all birthdays have been plagued and unenjoyable. Except for last year when we spent her day at Disney World! C’mon…how can you have a bad day at Disney?

Yesterday started pretty well and I thought it would go without a hitch. Grace had been developing a cough in the last few days and by yesterday afternoon, she was gasping for breath. She shortly ended up in the hospital with an x-ray, oxygen, a cannula, nebulizer and a diagnosis of pneumonia. Pneumonia is one of a Rett parent’s worst nightmares. Needless to say, her birthday party didn’t happen but Steven and the boys brought her party with them. We had cake and presents in her cubicle with enough cake leftover for all the doctors and nurses on the ward.

This video below is a little something we made to commemorate Grace turning 5 and our gigantic love for her. She’s literally the girl of my dreams.

Grace’s Diagnosis Story {by Steven}

10.08.13

“After a few days we took her home and tried to carry on life as normal. Everyone asking me how she’s doing, thinking it would all be over soon.”

I stumbled upon this post from a few years ago. Steven had posted it on his blog, but I guess it never made it over here on this one. And what a relief because I don’t think that I can remember ever sitting and writing our diagnosis story, although it’s a story that we need to tell.

Written November 8, 2010

Most of you out there who might read this blog know I have a daughter called Grace Catherine May Halford. She’ll be 2 years old this month.

I have never written anything about her before, or my life with her, I usually leave that for my wife. My wife blogs about her and keeps my family and friends up to date with how she/we’re doing.

When my daughter was rushed to the hospital last October 2009 it was sheer panic for my wife and I. We have 3 children, all under 7, and going to the hospital is no fun, especially when you think your daughter is about to die.

It started last year (2009) about October time. My daughter had never learnt to sit up and have never spoken, we put it down to her just being a lazy baby. Grace was born a normal girl, with lots of thick, dark hair. She had an olive complexion like her oldest brother, like my mother and like my wife’s family. She was growing fine, had great eye contact, laughed a lot, never cried much, and fed herself food.

When she was almost 1 years old I went to Nigeria for 2 weeks to teach and preach. It was a great trip, although a little nerve racking. I couldn’t wait to get home to my wife and children. One thing I remember from back then was how much I looked forward to growing with my daughter, to seeing her laugh, and run, and dance. I would look forward to her wedding day where one day I would give her away to a man I knew would be THE one! She was already a Daddy’s girl and I would look at her for what seemed like hours on end. We just stared at each other, often laughing, and making each other laugh. The way I looked at her and she looked at me made me think of the way our Heavenly Father looks at us, with such love and joy. Nothing could break our gaze.

Then I returned from Nigeria. I got home and woke my children up as it was late at night and I kissed them and gave them gifts. Then I went in to see Grace. I didn’t say anything but I knew something was wrong. She wasn’t her usual self, I just put it down to tiredness or maybe my mind was playing tricks on me due to the long flight.

Then the next morning I saw her and immediately knew something was wrong. Her lovely deep gaze was withdrawn, she was shaking a little bit and was even worse at sitting up. She was so floppy I didn’t know how to hold her. When sitting in her high chair she couldn’t put food in her mouth anymore and was looking at her hands as if she was seeing them for the first time. I was so hoping it was just a cold. We watched her get worse over a couple of days then decided to call the doctor. The reason we waited so long was we thought she was just taking her merry time to reach her milestones. I don’t know, maybe we were lying to ourselves, hoping everything would turn out okay.

The doctor saw us that week and immediately referred Grace to the Paediatrician. This would take up to 6 weeks though (gotta love the NHS!). We waited as long as we could, just hoping and praying everything would be alright. We kept this to ourselves as we didn’t want to worry anyone, and I think we were in denial that anything could seriously be wrong with my beautiful daughter.
About one week after the doctor’s appointment, after we had sat there and tried feeding her Cheerios and other foods (to no avail) she started crossing her eyes. And I don’t mean the cute way a baby does, I mean all the way in. It went on for about 3 days, and got worse and worse and lasted longer and longer. Then my wife met with some girls from Church and they prayed, then my wife told them about her eyes. Some of the ladies there felt she needed urgent care. That was all we needed to know to rush Grace to the hospital!

We arrived in the emergency room and we didn’t have to wait. They took her right through and did some basic tests. Whilst in the first waiting room bed there was a boy who had sliced his foot and was getting his flesh sown back together. I must say, a good distraction

Then they took her to a bed and kept her there for 2 days. She had test after test. We knew the doctors knew what was wrong with her as they weren’t too worried about her dying. I thought my daughter was going to die, and I saw her life just ebbing away. I was losing my Gracie, and my heart was breaking. Not only was I losing a daughter, but my boys were losing their sister and Elizabeth (my wife) was losing her too.

She had loads of blood tests and a brain test, to see if she was having seizures.

Although it was heartbreaking, we had peace. The Church rallied together and prayed day and night for us, they cooked dinner for me and the boys. They took care of the boys whilst we were at the hospital. They did everything. I have to be honest though. I was sad to see my natural family do nothing. My adopted family were there all the way but I kept looking for rays of hope from my birth family. Unfortunately many people don’t know how to handle tragedy. They just hope it goes away, or hope it doesn’t infringe too close to their territory which has taken a life time to build. Christians are vulnerable people. We put ourselves out there, our lives on the line for others. We weep with people, we rejoice with people, we hurt with people. And I had so many people there to hurt with us, as well as knowing Jesus was there going through this with us.

In a few short days it felt like my world was crashing down. The love I have for my daughter is love I have for no one else. I love my wife with a deep, intimate love. I love my sons with a deep, unquenchable love, and I love Grace with a deep you’ll always be my little girl type love (no matter how big you’ll get). I never thought I could be so in love with my children, but I am!
The hardest part was to no longer have her gaze into my eyes. It was crushing.

After a few days we took her home and tried to carry on life as normal. Everyone asking me how she’s doing, thinking it would all be over soon. We found out she (probably) won’t be dying anytime soon, but still no prognosis. They said we hope to know in about a month. We searched the internet looking for what she may have. Then one day per chance Elizabeth (not my wife), a friend in our Church said “Ooh, she looks like she might have Retts”. Well, we got home and did our research (actually my wife did). She called me and said I must look on Youtube and look at Rett Syndrome kids. I did and all the girls on there looked and acted just like Grace. We could barely believe it but we knew this is what she had. It was a relief to know what we were now up against.

We went to the doctors in December 2009 and they couldn’t give us her diagnosis, we had to wait 2 more weeks. We told them we think it’s Retts and the room went silent. Their silence gave it away.
We were all the time hoping that it was nothing more than a bug that affected her brain temporarily. Even up until the day we found out I was optimistic it was nothing too bad, after all, I surely couldn’t have a disabled child, not me!
But that day came, and we heard the news that made my heart sink a mile and my hopes and dreams for my little girl get buried with her little personality. Grace has Rett Syndrome. There is no cure! We will have a severely disabled child for the rest of her life, and no one knows if it will be a short or a reasonably long life. The diagnosis just brought on more questions, but at least we knew what to expect and look for, and pray for in the future.

Since that day we have had our ups and downs. We have shed many tears,and I still do, knowing my little girl is trapped inside this body that won’t cooperate with her mind. My daughter can’t sit up, speak, crawl, walk, feed herself, do anything meaningful with her hands, go to the toilet by herself, and the list goes on. BUT, she can make us laugh, and she herself has so much joy that it’s contagious!

When she first got bad it was said she was at the end her regression stage. This was supposed to have started at about 6 months and finished at about the age of one year. We lost her for a while, but she has come back again, although a somewhat different girl than we first thought she would be.

She sleeps through the night, and laughs when I kiss her. She has a strong affection for me and makes my heart melt every time I think of her. She has a purpose in life. She is loved and all who meet her are loved, unconditionally by her. It is a struggle, but one I happily go through for the love of my life. Our days are filled with medicines, vitamins (she can’t chew food, everything is blended), therapies, keeping her new glasses on, and trying to keep her busy to strengthen her weak body.

I cringe every time I think of any time I ever looked at a disabled child and not smile and love them, or when I judged a parent of that child for not doing more to shut him/her up when they screamed out. My daughter often screams at the highest pitched scream you will ever hear (no exaggeration). It is embarrassing knowing everyone is hating that we are there in this restaurant as all they want is a peaceful lunch, as do we! She looks normal and has a cool looking buggy so people put it down to us not caring.

My wife and I have our struggles. It is hard and frustrating. We wish we had more support from family. Just one night out, or a day away from our children without worrying about them would do the world of good (no, it’s not a pity party, I’m just writing my rare feelings into this blog). But this is the life God has for us, and I gladly wear these chains, that can sometimes be heavy. I fear she will die young, it is on my mind more than it should be, knowing this is a reality……BUT for God!

I have not lost my love for my Creator, but have fallen in love with Him more and more, thanking Him for counting me worthy to be able to take care of such a beautiful girl as Grace. I secretly cry often with my girl, especially when she wakes up in the night screaming in pain due to her heartburn (common with Rett babies). I ask God to heal her, but so far He has not answered the answer I want from Him. I’m not angry at God though, and haven’t even asked Him why. God doesn’t make mistakes, and I thank Him that He chose us!

I put on a brave face in public, but inwardly I’m hurting, knowing that no one knows my pain for my girl.

If you’re reading this please know that Jesus loves you, He loves me, He loves Grace. In the midst of pain He will be there, to those who call on His name. Thanks for reading

Steven.