Journal for 2010


February 11

Hi everyone.  Can't believe it's February already!  The doctors' appointment s and others have been one after the other it seems, and I haven't had a chance to update.

Harrison is 'officially' out of speech therapy.  We started him a little over a year ago since he began stuttering and overannunciating (sp?) some words.  Last week I went to his discharge IEP since he tested well and is no longer in need of speech services.  I told his teacher to look for Autumn when she starts kindergarten next year since she has some issues with letter subsitution & pronounciation.  Maybe SMA-related , airflow issues, facial muscle weakness/tightness, who knows?  She's getting speech now once a week through the school district and I am not at all convinced that it is helping.  The teacher is nice, but Autumn still seems the same as she was before.  We'll see about getting her a different therapist in the spring or summer maybe.  I'm putting that one on the back burner for now.

Autumn had her MDA appointment the first week of January, and as always it is good to see everyone.  Of course she charms all of the residents and loves to socialize with everyone that she knows.  We got scripts for new tires for Big Blue.  It's 2 1/2 years old, and the treads are pretty worn down.  Otherwise my main concern was that Autumn sleeps so much.  We put her to bed around 7:30 and she gets up around 7, but also needs a 2-3 hour nap everyday and would sleep more if we let her.  She'll be 5 next week, and that is NOT the norm for a child her age, even with SMA.  I asked Dr. McCormick about her biPAP settings, (8 in, 4 out) which she's had since last March and I think are too low.  Dr. McCormick suggested that she use the machine for an hour or so in the morning and in the evening in addition to nighttime and naps.  Right--she' d be on the thing all of the time, and then we'd never get out of the house.  Plus she'd have to lay down since it would be difficult for her to hold up her head with the mask & hose stuck on her face.  I asked the respiratory therapist what he thought, and he said that even most adults don't have pressures of 8/4.  Grrrr....  I hate it when people say that, and I know my kid.  I'd rather have pressures upped than have Autumn wear a biPAP all day.  She's not that weak, and if that was the case I might as well let her sleep.

(Really, what I think the issue is is that Autumn's retaining CO2 which is making her sleepy.  She does have energy when she wakes up, but just fatigues so quickly.  I was able to have another parent help me to 'unlock' her biPAP and change the settings, but I really want some guidance before I do that.)

A week later I went to Vent Clinic at the University of Michigan.  I know a handful of kids, many with SMA that are seen at vent clinic, and we wanted Autumn to be seen there by doctors who are familiar with SMA rather than have to 'break in' a new pulmonary doctor at Children's Hospital after Dr. Toder left.  It was a clinic setting too, and Autumn was seen by several different doctors and specialists.  

This was the first time ever that we saw a nutritionis t regarding Autumn's feeding, and I must say that I wasn't impressed.  I have an Excel spreadsheet set up for her with RDA's for a child Autumn's age & weight, and calculated as best as I could what she needed and that those needs were being met through the tube.  Of course I didn't bring that, nor did I bring a copy of her latest blood tests.  Should have though.  The nutritionist seemed very knowledgeable about what was appropriate for an average child but didn't have a clue about SMA, protein requirement s, and the amino acid diets.  I just smiled and didn't worry-- Autumn is now 48 inches tall (110th percentile) and 39.5 pounds (50th percentile).   Her bloodwork is excellent as always, and Dr. McCormick instructed me both verbally and in writing not to change a thing about her diet.  So I'm not.

The doctor of physical medicine and rehab was good too.  She gave us more prescriptions for a new battery and growth kit for Big Blue and new braces for Autumn since she is growing so much.  She was impressed that Autumn tolerates (and enjoys!) standing in her stander for 2+ hours a day.  She said we should spend more time stretching Autumn's and legs and doing range of motion exercises.  Of course we do what we can, but geez--there are only 24 hours in a day, and 14 or more are spent sleeping!  Sigh.  I guess it's either therapy the hell out of your kid or have a life.  We choose #2.

The last group we met with was the pulmonary doctor and the respiratory therapist.  The first question we always get is, "How many times has Autumn been hospitalized?"  I just love to see the look of shock on their faces when I tell them never, and add that she has only been on antibiotics twice in her life.  It always amazes them, and I was told that this is extremely rare, and that they haven't seen a child with the severity of SMA that Autumn has who hasn't been hospitalize d for respiratory issues.  Gotta love that cough machine!  Anyway, I told them my concerns about her sleeping and Dr. Tsai said that even given the fatigue factor of SMA, sleeping that much was a major red flag.  I told her what Autumn's current biPAP settings were, and immediately she said that those were too low, and they needed to be changed right away.  I brought the machine in with me, but neither her nor the therapist were able to unlock it.  I told them that I was able too, and they gave me the go ahead, but to call the company if I couldn't, so a tech could come out.  (Got home, and it took me about 15 minutes, but the settings were changed.  Yay me.)  They wanted the pressures upped to 12/4, possibly as high as 16/4 pending the results of a sleep study.  They measured the level of Autumn's CO2, and determined that it was within normal limits.  I was happy about that, because if it was on the high side, that would require some biPAP time during the day.  So their thought was that Autumn was still retaining CO2 during naps & nighttime sleep, and possibly was taking too shallow of breaths.  We were sent home, and I upped the biPAP settings, and Autumn still sleeps as much as she did before.  Not good.

I asked both Dr. McCormick and Dr. Tsai how we would know if the SMA was progressing.   Both of them told me, but in different words that the hallmark was a decline in respiratory status--like needing more biPAP time.  Most children end up sick, with little colds snowballing into pneumonia or worse.  Thankfully Brian & I have been able to stay on top of things with Autumn and that she's been freakishly healthy.  Her last bout of sickies was around Thanksgiving, and we fought that with Albuterol nebulizer treatments and CoughAssist treatments every 2-3 hours.  I swear, that stuff is magic, and I have a healthy Autumn to prove it.  Still, I know that this is a progressive disease, I know that Autumn will get worse unless a treatment or cure is found, and I can't do Jack sh*t about it. 

Anyway, Autumn's sleep study was Monday night at the sleep center at U of M, and she was such a good sport about the whole thing.  I'll forward pictures in a different email, but the amount of wires that my girl was hooked up to was incredible.   She didn't sleep too much, and every time something wiggled loose Autumn had to be sat up in bed, biPAP taken off, and readjusted.   Around 2 a.m., the tech came in and said that she was breathing through her mouth, rather than through her nose as she usually does with the biPAP on, so they brought in a full face mask for her.  More adjustments , and then she slept for about 3 1/2 hours straight--t he longest stretch that night.  We'll get the results hopefully by next week, and I'll be given instruction s to either adjust her current biPAP machine or possibly get a new one which will initiate breaths for her, if the sleep study shows that she's slower to take breaths on her own.

That, my friends, scares me to death.  Already Autumn has told me that she sleeps better with her machine than without.  Once Brian kept it off for a nap since her face was a bit red from the mask.  She didn't sleep at all, and told me that she doesn't like to sleep without it anymore.  Who would have thought???  I'm glad that she knows these machines help her, and she feels better when she uses them, but every time I have to spend 30 minutes getting her ready for bed (sans bedtime stories or anything like that--just the getting ready stuff) it makes me so sad, so angry that I have to hook up and plug in my daughter just to keep her healthy and alive.

I guess it's a quality of life issue, and I'll always keep it in the back of my mind.  Right now she's so happy and really just like any other kid.  Every once in awhile she mentions how she wishes she could walk, but not very often.  She loves life, and is looking forward to going to kindergarten next year

Oh yeah--her birthday is next Tuesday, Februrary 16.  She'll be five.

I hope like hell she has a good life and SMA doesn't take her before a cure is found.  I love my daughter, and her daddy and brothers would go to pieces if there is ever a time when she wasn't here.

I'll quit.  The realities of SMA just suck.

Wednesday, April 14, 2010

Hi all. I just got back from urgent care and helped Brian put Miss Autumn to bed. Not a good day, and I'm upset and worn out.

Autumn's right leg was twisted today at physical therapy while Sandy was helping her transfer into Big Blue. It was totally an accident, and Sandy met me while I came to pick her up. Mrs. McAuliffe (her teacher) iced it, and Autumn seemed better as long as she was sitting down, not moving. She was playing on the playground when I came to get her.

I went to put her on the potty later and started to cry, saying her knee hurt. It was swelled up a bit, so I called her pediatricia​n​. Didn't get a call back & it was close to 5, so I called Oakwood Heritage Hospital (in Taylor) to see about an x-ray. We went in, and they x-rayed her feet, legs, and pelvis. I got a copy of the CD, so that we can take it to the ortho doc when we go. Thumbs up. Hopefully that will save her from having to have any more x-rays.

Anyway, the ortho doc at Heritage didn't find any fracture, but (of course) was concerned about her hips, which were both shown to be dislocated since Autumn doesn't stand as much as your average kid or walk. After feeling and manipulating her knee, he concluded that there was probably some soft tissue damage. He took Dr. Mendelow's card & said that he would make a call to him tomorrow. I was also instructed to call so that Autumn can be seen ASAP.

In the meantime, the doctor said to just baby it, and give Tylenol and Motri​n​. He said on an ambulatory child he would recommend a soft splint, but since Autumn is in the powerchair not to worry about that. If she wants to wear that knee immobilizer at night (she doesn't--and told me very loudly) she could.

I'm glad we went to that Oakwood, rather than the main hospital's emergency room. We really didn't have that long to wait (all relative, I know), and when we did it was in a private room so no one was coughing and sneezing on Autumn. The doctors and x-ray techs were very professional and kind to Autumn, and as an added bonus, actually LISTENED to me, and didn't treat me like a moron parent.

Sooooo, tomorrow 2 pm we're getting new tires and a new battery for Big Blue. I'll call Dr. Mendelow in the am and see when he can fit Autumn in. I'm keeping my fingers crossed that she'll heal on her own, and no surgery (I'm thinking of the ligament surgery that Brian had on his hand. Eek.) will be necessary. I'm glad we have the hound dogs for her other leg to stretch out he knee, just in case she won't be able to stand for awhile.

But dammit. I'm SICK of SMA. I hate this bullsh*t stuff that is brought on by this disease. I don't have time for this stuff, and hate like hell to see my kid hurt. Granted the doctors all told me that given what she has, and after looking at her x-rays, and seeing how medically fragile she is blah blah blah that it's amazing how healthy she's been and that she hasn't had more injuries. Not that I'm not grateful, more than anything I am, but for cryin' out loud, I just want a cure for SMA.

Yesterday I went over to my friends' house. Their son has SMA and is in the process of getting a g-tube. He is losing weight and has had repeated bouts of pneumonia due to possible aspiration of food. AND he's stronger than Autumn--he can walk a little bit at age 4. I love that I can help knowing that we've been there, done that, and have had a wonderful outcome, but hate that this disease is putting another family through this too. I told my friend Katrina that when a cure is found for SMA I'm pushing my Autumn to the front of the line and dragging her and her son Torrance with me.

So on May 2 MDA is having a big fundraiser at Somerset Collection in Troy. This will be our third year doing this fundraiser. It's getting so big that the mall can't accomodate the crowd and another location is needed. I don't usually hold out my hand asking for money, and I know so many of our friends & family have donated already, but please, if you can spare any, please donate to MDA. They are pumping so much money into research to find cures for SMA. I'm just hoping that my daughter will be healthy and live long enough to get it.

Tuesday, August 17, 2010

One of the things I am starting to realize being a parentof a child with special needs is the significance of anniversaries​. My daughter Autumn has Spinal Muscular Atrophy, a type of Muscular Dystrophy. She was diagnosed March 1st, 2006 when she was one year, one week, and six days old.

I remember going to the neurologist with my husband and my beautiful daughter not knowing what to expect. I researched the tests that were to be done that day (an EMG and nerve conduction test) but had no clue as to what the doctors were looking for. At an earlier visit I answered question after question about Autumn's birth history, our family history, siblings, physical development, etc. To me, everything was pretty typical except for the fact that at age one she was quite 'floppy', and didn't walk or crawl. She did however, roll over both ways at the young age of 14 weeks, was able to sit unassisted (though unable to go from lying down to sitting up), and seemed tobe otherwise bright, healthy, happy, and social. Autumn had an older brother who was 4˝ at the time, and I understood that there were wide variations of 'normal' for babies. Though never in denial, I thought my Autumn was at the other end.

I was wrong. Boy was I wrong.

When we got her diagnosis, there were no words for what I felt inside. My daughter had this disease that was progressive and fatal. The doctor told me just to take her home and love her, treat her like we would treat any other kid. I don't remember much of what we were told but I do remember the kindness, sadness and regret in his eyes. (I wish all parents were as fortunate as we were on that day to be told of a diagnosis by compassionate doctors. Many aren't.)

On the advice of this doctor, we called the Muscular Dystrophy Association.  I heard of MDA and knew of the Telethon, like most Americans, but admit I never watched it, and did not know anyone with muscular dystrophy.  Now my kid was thrust into that club, so I figured that I'd better get cracking, and learn as much as I can.

At our first MDA appointment, I didn't know what to expect either. Of course I did my homework (years and years of college prepared me for that!) and studied up on SMA 101. Once again, we were surrounding by friendly, loving people who wanted to help. Maggie and Julie along with Dr. McCormick really helped to put our minds at ease, and let us know that although this really was a serious disease​—​without any treatments our cures currently available—we did not have to sit back and watch it take our daughter. I asked Maggie if we should save for college for buy extra life insurance, she looked at me like I had two heads and said, "College. Definitely." I will always love her for that.

So months went by, and I cried every day for the first fourof them. Most of the time we did typical family things, but some days were so hard, when you looked at Autumn inthe stroller, playing on the floor, sleeping in her bed, and knew that inside she has this disease that would quite possibly rob her of the ability to move, cough, swallow, and breathe. The disease already took her ability to crawl, stand, and walk. In all honesty that didn't take long to get over, and it was made easier by the fact that she never did have much mobility except for rolling. Machines could give her mobility, but breathing was another issue.

On March 1st, 2007 was another significant anniversary. Exactly one year after her diagnosis, Autumn tried out a power wheelchair. I watched my daughter figure out how to work the joystick and go where she wanted, all the while trying to keep it together inside. I hurt because my Autumn would never walk,but I was even more joyful that this machine was able to give back some independence that every two year-old should have that SMA took from her.

Of course I wasn't expecting the fight from the insurance company, but after months of fighting, countless letters and phone calls, videos of Autumn in the demo chair, four appeals, and binding arbitration, Autumn's chair was paid for. Word to the wise—don't mess with moms of special needs kids. We're angry enough as it is, and if there is something out there, anything, that will help our babies, trust me, we will do everything in our power to get it.

Another March went by, and though life didn't really settle down, we became very familiar with Autumn's diagnosis and less frightened, at least of certain things. We decided that if we couldn't control how fast the disease progressed, we would at least do what we could to keep Autumn healthy. On September 19th, 2008 (another anniversary) we had a gastrostomy tube placed. Autumn could eat, but was very thin, and I was worried that if she did get sick, the doctors would feed her formula through a tube shoved up her nose.

I didn't even want to entertain the thought of that.

Getting Autumn her 'tubie' was one of the best decisions ever. After surgery, she was home in less than 36 hours. Every single one ofher blood tests has come back normal, and when she is sick we don't worry if she isn't eating or drinking enough since the majority of her nutrition goes through the tube. Autumn doesn't seem to care either—she eats what she wants for the most part and receives her tube feedings at night. Some nights when she's asleep I look at her and cry, hating to see my daughter hooked up by a tube to her feeding pump, hating the long plastic and Velcro leg braces that are used in the attempt to ward of knee contractures, hating thee soft whooshing sound of her bipap machine as it helps her take deep breaths, and hating the plastic mask with the black straps that cover my girl's sweet sleeping face.

But most of all my days are happy and filled with love—for my three children, for my husband who has helped me make it to this point, for my friends who have let me cry on their shoulders and have been there when I needed someone to talk to, for the good doctors who treat Autumn like their own and listen to my concerns. I'm angry at this disease though, furious that so many children have lost their lives too soon, and furious at those clueless souls who make life more difficult when it's already tough enough.

Of course this disease has made me strong too. I have to be, I have to physically do what my daughter can't, I have to be her voice and advocate until she is old enough to do so herself. I have to stand up to ignorant medical professionals, to educators who haven't dealt with a child like my Autumn, and to the morons who are disrespectful and downright rude.  I want to have her grow up to be happy and productive, to be able to choose for herself what she wants to do.  Until she is old enough to take that on, it's my responsibility to point her in the right direction.

And most of all, every March 1st, I want to say to this disease, "Screw you. We're still fighting, and you haven't taken my daughter yet." Maybe even someday, when March 1st rolls around, we won't have to fight because a cure will be found and no other parent will have to deal with crappy anniversaries anymore.

Thursday, October 14

Now I don't know if I should spill the beans just yet...

Okay, I can't stand it anymore, and I just wanted to share some great news with you. We're still in the early application phase, but MDA has requested Autumn (and our family) to be the MDA ambassador for the state of Michigan! I filled out the first forms tonight and sent it to our contacts at MDA. I'm not sure how long the process will take, nor do I know how many have applied for this honor.

As you know, MDA has greatly helped us get further care that we needed for Autumn and have put us in touch with several families in the area whose children are affected with muscular dystrophy. In addition, we really want to encourage people to donate to this wonderful organization so that barrier-free camps will always be within reach, services will always be provided, and hopefully cures will be found for n​e​u​r​o​m​u​s​c​u​l​a​r diseases.

Our family has done live Telethon appearances every Labor Day for the past four years, Autumn was an 'Honorary Road Captain' for the Harley Davidson's Black & Blue Ball, we've done Stride & Ride and other fund​-​raisers, we've spoken at lock ups, golf outings, and spent hours on the phone with families who were newly diagnosed and just starting along the road where we have travelled, and really tried to help MDA to reach out to others. We would still be doing that, but on a much larger scale--we'd be travelling around the state, doing appearances, meeting people, etc., as representatives of the Muscular Dystrophy Association.

When MDA Maggie asked me if it was okay to give out our name, I was quite literally blown out of the water. Even if our family is not selected, I am TRULY honored to even be given this opportunity.

As much as I STILL hate this disease, it WON'T kill my daughter, and it WON'T break me. A cure will be found, and I will do whatever I can to help.

Monday, November 29

Guess I'll start from the recent stuff & work backwards. Lots to catch up on as always.

Attached is a flyer for our MDA fundraiser. We're holding it at American Pie this year with the Johnson family. They have a son Torrance who has SMA type III (he can walk a little). Brian & I met the Johnsons through MDA when Torrance's mom Katrina needed another mom to talk to. I've known Katrina for just over a year, and love her. She is the ULTIMATE fighter mom, she has been through so much trying to get doctors to listen and to get help for her son. Torrance also has a g-tube and uses bipap, so Katrina has followed down the same road we have. She knows it sucks too, but it seems like it sucks less when you have someone to hold hands with along the way. So, together we've decided to do fundraising together with both our families as Team Johnsinger. We're hoping this raises awareness of another benefit of MDA--strong friendships and support of other families. So hopefully we'll raise a lot of money, all of which will go to SMA research, hopefully to help find a cure for this disease.

So guess I'll fill everyone in about Autumn. Sigh. She's doing great, REALLY great. She hasn't been on antibiotics since 2008, which is amazing for a typical child, and a rarity for one with SMA. She had a cold the first week of school, but with the CoughAssist, bipap, and albuterol nebulizer treatments we managed to fight it off without a doctor's visit. Happy on that front.

What always drags me down is the other stuff, the stuff that comes along with the SMA territory. Autumn doesn't just have SMA, she has all of the other issues too: restrictive lung disease, knee & hip c​o​n​t​r​a​c​t​u​r​e​s​, scoliosis, kyphosis, lowered bone density, nutrition issues, equipment issues, h​y​p​o​v​e​n​t​i​l​a​t​i​o​n during sleep, etc. It sucks. All of it. Tomorrow she is being fitted for a back brace, not so much for scoliosis, but just for support while sitting. Her scoliosis is getting worse, and it's obvious when she is sitting, so we're meeting with a new pediatric orthopedic surgeon on Dec. 27. The one she saw before left the practice, so it's square one. After her appointment tomorrow it's off to get a routine blood draw. Not anticipating any problems, but I can think of better ways to spend time with my kid before school. December 30 Autumn will be seen by a cardiologist.  Again, we don't anticipate any problems, but recent research is discovering links between SMA and heart abnormalities, s
o we're getting this checked out. I also have to make an appointment for a bone scan. Since Autumn doesn't stand as much as a typical kid (only 2 hours/day in her stander) it stands to reason that she may have or eventually develop problems here. I always joke that for every doctor's appointment I take Autumn to, we need to schedule two more. Still it's 'normal' SMA stuff, and I'd be a hell of a lot busier if she was sick. Fingers crossed.

So the last time she was at Vent Clinic (pulmonary, nutritionist, rehab medicine) she was given a good report. She did lose two pounds, now at 37, but the nutritionist didn't seem nearly as worried as I was. Being that Autumn gets about 75% of her calories via g-tube, this is an easy fix. We're increasing the amout of food she gets at night, and mixing more juice in with her food. Fingers crossed that the blood tests come back normal, otherwise more tweaking of her diet will be in order. Otherwise the doctors gave me the thumbs up for her bipap settings, therapy, equipment, and everything else. It's a relief, believe me. They still can't quite figure out why Autumn needs so much sleep, but since she hasn't been sick we're not changing anything. She sleeps from 6:30 pm to 7:30 am, sometimes later. No nap because of school, but at 5 1/2 and even with SMA I'm surprised she needs so much. She falls asleep right away when we put her down, but is a beast if kept up past her bedtime.

Oh--can't forget about speech. Autumn's speech is NOT good for a child of 5, even with SMA. She's been in speech therapy for almost 2 years, without much improvement. Dr. McCormick at MDA recommended Vital Stim, a treatment that was previously used in individuals with swallowing issues, but may be helpful with those who have muscle weakness that affect speech. We're starting Vital Stim in January--an hour a day, three days a week, for seven weeks. Fingers crossed that this works​-​-Autumn's testing at school in areas of reading/sounding out words was lower than we expected, and since her hearing is fine (that was one of the first things checked), we REALLY need to do what we can for speech. I'll fill you in later on this one when I get more information.

Okay, school stuff for the kids...

Harrison is in 5th grade, and is doing FANTASTIC. He got all As and one B+ on his first report card this year. His teachers all have great things to say about him. He loves school, has a lot of friends, and does well. Wish I could say more, but glad I don't have to. The only glitch on the radar with Harrison is that he was having issues with coughing again, and after a trip to see the pulmonary nurse, it was determined that he needed to be put back on his asthma medicine again. So here's to Flovent twice a day. No big deal, and he's fine now.

Aaron is no longer in preschool. Due to the difficulty of finding somewhere close/affordable, and me being the only one available to take Autumn to 1/2 day kindergarten, I pulled him out. Still feel bad about that, but am not as stressed and am enjoying my time with him at home. Aaron is as smart as a whip, talks a blue streak, and is just as social as his sister. We'll be doing preschool next year when Autumn is in school all day and transportation isn't an issue.

So, that's about it. Again, for everyone who is local, please feel free to forward, print off, and/or pass out the flyer. For anyone who is interested in supporting us in this fundraiser, here's a link to our page. Again, all money that we raise will go to MDA to fight SMA. Every cent helps, and I'm hoping my daughter and her friend will live to see a cure. It's awful to think that, but it's reality.