Friday, August 8, 2014

What is Chromosome Analysis, High Resolution?

Days after our first Growth Hormone follow-up appt, we headed out at 7am this Friday morning for some blood work at Hershey. On Monday, our Dupont Endo ordered an 8am Cortisol test. We can't figure out why Mimi is obsessed with eating all and what she does. The Endo thinks maybe it's the salt she craves. Scary...so we are ruling out adrenal/cortisol problems.

Also on the list was a CBC, PLT, and DIFF, a Comprehensive Metabolic Panel, and finally a test that will say if Mimi has Turner Syndrome. (apparently this is what should be considered whenever a girl is short stature.) Mimi's Endo doesn't think she looks like a Turner girl, but we want to rule it out. I am interested in what this High Resolution Chromosome Analysis test shows. If she does not have Turner syndrome, will something else show up? Having denied an amnio test for Down Syndrome when I pregnant with Mimi, it is interesting to realize that this looks similar to what an amnio might have shown back then. So four years later, maybe we'll learn something.  Here is a link to the information:

Chromosome Analysis, High Resolution - Quest Diagnostics Nichols Institute Education Center

We are so happy for Mimi. She grew 2.5 inches so far on Nutropin. She began her shots on April 19.
She is still very petite, but looks so tall to me. We are excited for what the future holds for her. She is already stronger with more muscle tone. She is also sleeping much better. It's very exciting to see her growing, as she had stopped growing (!) in November 2013, shortly after she turned three.
This photo is from her first appt at Dupont on March 31, 2014.
 And on August 4, 2014.

Saturday, August 2, 2014

Mom's Quick Guide to Care Protocol for a Child Who is Not Growing Well



I wrote this guide for parents who are like me three years ago, when my daughter Mimi stopped gaining weight and also slowed her growth between 8 and 12 months old. I wrote this guide for those who are seeking to know why their child isn't growing normally. 
I spent about two years every night on the internet trying to figure out my daughters growth failure. Meanwhile, listening to any and all advice from those around me. The internet helped me know when I needed to see an Endocrine doctor, taught me about the MAGIC Foundation, and helped me rule out many disorders.
I learned during that time that diagnosing a growth disorder is really hard. So many things must be ruled out first. It's a long road and hard on parents too. It's important to continue seeking care. Create a binder with all test results and use each negative test result as a "check-off" on your ruling out list. Keep all flagged test results that are abnormal on your radar and give each specialist the detailed run down at all appointments.
Growth problems can be caused by many factors and reasons, including GI disorders, pituitary tumors, head trauma, childhood disorders and lifelong diseases, syndromes, not bonding to parent, and malnutrition. A thorough doctor needs to consider each of these. A good doctor will also ask about the height and growth spurts of other family members as he or she considers if your child might have familial short stature or constitutional short stature. It's important to make note of when your child met developmental milestones, as each doctor should ask you about those. Those things are important as they help paint a picture say, if your child has particular syndrome.
I think this is a good basic overview of what to do if you notice your child is not growing well. If you have any additional ideas, please add them in the comments. Of course, if your child has a certain syndrome- like appearance it would also be good to seek the advice of a genetic counselor too.
Always trust your gut. Have no fear in seeking different opinions from specialists. If your local providers leave you without answers, go where you need to go to get the best care for your child. Give your child excellent care at home while you wait months and months to get through any tests and wait times to see specialists. You know your child best.

 

Mom’s Quick Guide to Care Protocol for a Child who is not Growing Well


Immediately gather all home and physician measurements and plot on MAGIC Foundation Growth Chart.  https://www.magicfoundation.org/www/docs/7/growth-charts
Take your own measurement that day, and plot it. Be sure to learn how to measure your child correctly first. http://www.cdc.gov/healthyweight/assessing/bmi/childrens_BMI/measuring_children.html
A child that is slipping on the growth chart needs to be examined. Also a child that is not growing enough in a year needs to be looked at. 
Create a three day food log with calorie count of everything your child eats over a three day period. You will need to show that your child is eating enough to grow. You actually should have proof. And a log helps. If your child does not have a desire to eat, and you try all you can, make note of that.
Make sure that your child is properly dressed in cold weather, and while sleeping at night. Make sure your home in the winter is warm. 
If your child is also underweight, feed them before bed and immediately upon waking to prevent hypoglycemia.
Make sure you are bonded to your child and that your child is not disconnected from you or another main caretaker.
Schedule an appt with your primary physician and tell them what you have noticed. Discuss eating patterns and amounts, show them your food log. Show them your plotted growth charts. Discuss any stomach upsets or unusual bowel changes.
Discuss having your child be referred to a Pediatric Gastroenterologist and to a Dietician immediately. The wait can be long. We waited four months to see the GI.
If you have obtained a referral, make the appt with the Pediatric Gastro and the dietician right away.  While you wait for the appt, continue keeping track of your child’s food intake.
Ask your Gastroenterologist what they think about your child and what tests they would like to have run. Discuss exactly what they eat. They will be looking to see if  are bonded to your child, and if the child is malnourished. (The child could be malnourished due to a disorder, not you not feeding them- so don't take this personally.)
Continue to plot your child’s growth as you wait for the tests to come back.
If initial tests come back ok, ask the GI if he needs to run Celiac Tests, GI Scopes, Stool Testing, and the Cystic Fibrosis Test and how long he will wait until he runs each.
If those tests all come back ok, immediately go to your primary physician and ask for a referral to a Pediatric Endocrinologist. It is important to now see an Endocrine doctor as THEY will want to track your child for about a year in many cases before offering for example Growth Hormone to a Growth Hormone Deficient child.
At the Pediatric Endocrinology appt, bring all the test results that have been done by the GI, the calorie counts you and the dietician have done, and all growth charts. Also make sure you know when your child hit developmental milestones, and family member heights.
The Endo will do a bone age study of the hand, which is a simple hand x-ray. He or she should also check IGF-1 Levels and thyroid levels. He will look at what the GI tested for, and add any blood tests he or she wants to look at. He or she may consider that your child also see a genetic doctor.
If IGF-1 levels are low, continue to track growth for six months, to agonizingly prove that your child is not growing.
At the Endo follow-up, make sure IGF-1 levels and thyroid levels are tested again. If the IGF-1 numbers are low or lower than before ask for your child to have a Growth Hormone Stimulation Test.
While you wait for this test, continue to feed your child well, and track growth. If your child is thin, make sure to feed your child in the night time too, to prevent hypoglycemia. Many children with growth disorders can't sleep through the night without food.
If your child fails the STIM test ask your Endo immediately for an MRI of the head. This is standard protocol to rule out pituitary abnormalities.
If your Endo does not want to give Growth Hormone (or another type of growth medication) to your child at this time -even though your child is not growing enough and they have failed the STIM test and the MRI is clear, AND you want to start your child on Growth Hormone, seek out a new Endo immediately.
Bring with you to the new Endo ALL of your child’s test results from all specialists.

NOTE: My daughter was diagnosed officially at age three with Growth Hormone Deficiency. This is the testing line-up that we went through. During the process everything was new to me, so I hope this shows someone out there what tests and considerations are done on the road to diagnosis.

REMEMBER: It's up to you. Treating disorders of all types first means recognizing unusual things in your child compared to a typical child. Even if you can't get a formal diagnosis for a long time (or ever!), you still must continue to seek care and support for your child in the area they are suffering with. Don't shy away from getting them the regular (or extraordinary) care they need. For example, if you notice anything unusual with hearing, vision, movement, milestones, strength, coordination etc. also get referrals to specialists in those areas and/or call Early Intervention or the IU13 for free testing and advice. If your child does end up with a diagnosis, you'll be further ahead than most having gotten them the appropriate care they needed in all areas related to their situation early. It will help give them the best possible outcome whatever the case.

Monday, June 23, 2014

Growing!



So Mimi has begun to grow!

Since the May 30th picture was taken, I think she's grown another half inch. Funny, I was only thinking about her growing taller. So when her Dora sweatshirt sleeves were too short, I couldn't believe it. Her Dora PJ's she's worn for two years are too short. We had to give away a few pairs of shoes, and a few winter coats...all of which she's worn for two years.

I still look at her and wonder if she'll grow a little bit more and then stop, even with the shots? But I think it just takes time, and we'll see how it all pans out. It's all I can do.

Mimi is enjoying her summer so far, swimming with her brother that she calls BoBo, and bossing him around. BoBo, according to the Nutropin height charts, at his current growth rate, is expected to be six foot one! Mimi at her current percentile, is predicted at four foot eleven. However, she had completely stopped growing last November, so I think her predicted height would have been much smaller. Her mid-parental height goal  is five foot five. I don't really care, I just want her to be the healthiest she can be.

We recently had her appointment with the cardiologist, and it was another week of worry. GHD kids can have thin left ventricle walls, causing stress during exercise. Mimi gets fatigue after 45 minutes of play, so I was concerned. She had a full workup with an Echo Cardiogram, she was so good during it. However, I thought for sure we would be expedited to Dupont Hospital within the hour, after seeing her heart valves and blood gushing here and there.

The Dr. came in and said all was ok. But the next day rang me at home asking how she was. (Dupont cardiology Dr. personally calling to ask me how she was...imagine that on your voice mail!). The cardiologist said that Mimi was pretty tachycardic at the appt, and wanted to know what her blood pressure was today. Well of course, um, I haven't checked it today. LOL....but then I kept trying to wait for her to nap so I could check it again, because he wanted me to get a sleeping BP from her and page him right away. oh....that stressed me out. How do you page someone? heehee, and do we have a minute hand in the house, at all, anywhere? Then he mentioned a Holter monitor...oh God.

All was ok, after she slept, he thinks the GH med is causing a fast heart rate. But reading about the heart differences in GHD kids was a reminder that my child isn't just small, that she has a condition that Growth Hormone can help. Anyway, we have a followup in a year.

That's all the news for today:) More in a couple of days...







Thursday, May 1, 2014

A Shot in the Dark

 The long researched, longed for, and long planned for growth hormone medicine arrived. Before it arrived, the phone calls arrived. The doctors personal assistant, the specialty pharmacy who will deliver the meds, the nurse calling to schedule the training session. Then I called the pharmacy nurse to talk to her, and then the case manager for the GH called, and then I called the personal assistant again, and then the nurse called again to say she's on her way. Two days before the nurse came I promised the specialty pharmacy I'd be home to receive my on ice delivery. All those months of investigation on the computer and trips to doctors, and suddenly it's here and I'm not sure how this works.

The above picture of Mimi in the GH company duffle bag gives an indication of the excitement we felt when the boxes of needles, alcohol wipes, and injection pens arrived. This has been such a long awaited thing, we were really really ready.

Mimi was scared when it was time to do the first shot with the nurse. My Mom came to learn, Matt came home early from work, Max stayed quiet and watched, and the nurse instructed me as Mimi screamed. Then she laughed when it was done.

The next night I tried giving her the first on my own shot, while she slept. Lots of moms had said they do it that way, and it worked great. Mimi didn't flinch or move a muscle. I was so relieved. I found the whole thing very easy. I just had to remember to take the growth hormone out of the fridge for 20 minutes first and I had to stay up to wait til she'd been asleep a little while.

So I proceeded to do the shots, Monday night, Tuesday, Wednesday, and Thursday. Her dose allows us to be off the seventh night (6 nights shots, 1 night off). Friday night found us in Connecticut visiting my sister. Mimi had developed little dark circles under her eyes, but all else seemed fine.
By 11pm Mimi was congested and crying. She kept crying and crying and crying. Then she got a little fever. She woke up the next morning and I gave her Tylenol. She was ok, playing with her cousins and singing in the yard with all the kids.

On the drive home that afternoon, she fell asleep and then woke up at a truck stop blazing hot. I took off her undershirt and put her back in just a t-shirt and took her socks and shoes off to cool her down as we kept driving. I felt unprepared as I did not have her Endocrine docs phone number or children's Tylenol. errrrrr. She cooled down again, and by dinner was singing to everyone in Arby's. LOL

Back home she seemed ok - I thought she probably just has a virus or something. But on Tuesday afternoon, her eyelids looked weird - puffy- not too bad, but droopy. So I went through all the warnings for the drug and thought I better let her Endo know as that was listed as a side effect. I thought I was being overly concerned. She wrote me right back and said no dose tonight, and slowly start her back up on lower amounts until we reach half the starting dose.



The next day, Wednesday, I took her into her primary doctor to check her lungs as she'd had off and on fevers and coughing. No lung trouble, but wait, she has a double ear infection.

Back home and I look up the drug warnings again and there can be ear infections with somatropin (GH). Mimi had her last ear infection 14 months before, so that was a coincidence? that a week into GH she has a double ear infection?

Where last week there was ease and hopefulness, now the train of excitement has stalled and I'm holding my breath and checking her face to see if she's looking puffy on each dose level.

I don't understand if these things happening means that she's in danger or if she'll need to be on lower dosing all the time. Will she not grow as fast on it if she is lower dosed?  Will she be ok on it? I also am thinking Why is her face swelling and why are her ears infected? Why does that happen? Can someone tell me? The primary doctor said that her body is reacting to the change. I don't know...
I don't understand. I hope this can be one of those stories of "at first it was a little bit hard for her, but now she's doing soo great."


We have a busy weekend coming up, and I am trying to get things in order around the house. It felt  like this week I got behind in all my tasks and the house on any given day looked crazy. And then I remembered that it's hard to do it all, when a sick little one only wants you. And I remembered that she wanted me to hold her and read to her, and play Barbies, and library, and Frozen. And I knew she felt strange and her ears hurt her.

That's just fine, she has me. And I'm not taking my eyes off hers- with each day and each increase. .1,2...


Wednesday, April 30, 2014

Mouse Loves Rice



Max became involved in the Music for Everyone program this year at his school in Lancaster.
They were awarded a grant that allowed 2nd and 3rd graders to have choir classes after school this spring.

Last night they were invited to record a song for the soundtrack for a documentary film. You should have heard them all singing...it was so sweet. It was the "Mouse Loves Rice" song.

Here are some photos of the kids at the Winter Visual and Performing Arts Center and the crew...Wow...!

I'm sure he'll always remember this....!




  video

...Meanwhile, Mimi and I waited outside in the hallway and could hear their lovely voices.

She worked on her stickers for a while and then said that she is a star and started belting out her own "Frozen" inspired song and dancing with her new moves.

She made me a little nervous there as she's singing right outside the studio door. LOL

It will be cool to see the film when it comes out.





Tuesday, April 22, 2014

It's a New Day


We switched Endos last month and took Mimi to Dupont. I ordered for all her records and insane history of test results to be faxed over, including all growth charts and everything else we could think of before we got there. We drove for an hour through picturesque Amish farms, negotiating the roads that were ravaged by potholes from our insanely cold winter.

Mimi had a thorough consult with a wonderful Endo who was so careful and meticulous, but also very funny and sweet to her. We walked out with a script for Growth Hormone. We also got a referral to cardiology (not messing around), one for labs for 2 weeks into GH (including a Karyotype lab thrown in...not messing again X2).  It was sort of like Disney World. Everything went smooth, was a successful appointment, and left me feeling shocked with relief.



Saturday, February 15, 2014

Mimi works with Play Doh and sings with Paul Simon...


Join me for a day, and if we leave the house Mimi shall bring her player. No need to turn on the radio. She'll play "Me and Julio..." and sing along, pressing repeat until we get to our destination.

In this video she listens carefully and then the singing starts up and she joins right in- working happily and singing. My sweetie...


Wednesday, January 29, 2014

Pituitary Dwarfism in History

I came across these photos in looking up historical images of Growth Hormone Deficiency. I was trying to see what Mimi might look like if she did not have Growth Hormone treatments, or if they didn't work for her.
Although the term midget is quite frowned upon now, it was the term that was used in the past when someone was a proportionate dwarf. So the term "midget" came up under many of these photos. (it is correct to now refer to a short statured person as a Little Person.)



I thought it was important to show these images, as you can see the similarities in facial features between these people and children now with GHD. Because most children with GHD are treated with growth hormone today, it's hard for me to visualize what an adult with untreated congenital GHD "looks" like.

We aren't sure what the diagnosis of each individual here was. Some may have had thyroid disfunction that led to a stunting of growth. Maybe some had a tumor on the pituitary. Some may have had Laron syndrome or IGFD, some may have a malformed pituitary gland.

Pituitary dwarfs also worked as the munchkins in the Wizard of Oz.

I wonder about the lives of the people pictured, their feelings, and the thoughts of their families as well. How they viewed themselves, what it was like to walk down the street that size, back then, and even how they found their clothing. It is evident to me that many have the cherubic face that Mimi has.

 I love this card, because it shows weights and heights. Something that parents of children with growth disorders always talk about. It would be fascinating to know the actual diagnosis of the person listed, and their caloric intakes in early childhood. One parent on the facebook group I'm on mentioned her daughters doctor said she'd be in the three foot range without treatment. A Laron dwarf today averages four feet tall. These people listed on the card are very small.



Now, before beginning GH treatments, doctors might see if we as parents can try to add height to our children by increasing calories for a few months. That worked for Mimi over the past year. We're not talking huge increases in height. We're talking, "she was barely growing  at all and then we increased her calories by about 500 a day. (putting her at 1700 calories during age 2 to 3). She grew an inch suddenly." Now we're pulling teeth in the growth department again, despite what she eats. Mimi makes barely any growth hormone (averaging 3.4 on two growth hormone stimulation tests.) Now she is gaining weight, but I'm charting the growth, and the little pencil line hasn't moved much.

I wonder if these children could have been a "wee" bit taller with more food, more protein? (Mimi craves a strangely large amount of protein.) I'm talking about maybe being a few inches taller as a result of a ton more food. It  is very intense feeding Mimi 1700 calories a day, and exhausting. Did mothers cook at midnight for these children? Or would that seem odd to them? Did some mothers try it, only to feel that they might be going crazy? Stirring the pot of food on the stove by oil lamp, while their little friend waited for food- everyone else asleep in the house?! As I, in 2012-14 can barely find any information about this at all, those moms certainly didn't read that feeding more could help. It would have had to have been by instinct alone.

Dot Ivenzel here weighs 12 pounds more than Mimi and is three inches taller than Mimi now.



With no chance of a medication to help your child, and no medical information to read...did a mother go mad? I have very strange feelings about Mimi's lack of growth. Initially I felt that all eyes stared at me and wondered if I fed her. (which quite often is what people thought- and I know that because they'd ask me if I fed her! (and glare at me.) Now I go around in a kind of proud haze, sort of self made blinders to the world. Replacing my worries for what other people think with a spacey amazement for her (with gulps of concern for her health and future popping in at times.) Every season I feel like I'm fighting a magnetic pull as I put her clothes away in a bin for next year, instead of giving them to someone else- because her clothes will still fit. It doesn't feel right, but I have to self talk myself and say it's ok. Save them.

Perhaps all the mothers of the people in these photos were stoic creatures who just went with the flow, completely unworried for their Daisy, or Edward, or tiny Sophia. But surely they weren't diagnosed for years (we weren't with the advancements of today). Surely there were comments and teasing, and staring. But surely also, they had brothers and sisters who loved and protected them to pieces.

Even though it's been a long time of wondering what's going on with Mimi, we have it much easier than in the past. I can't stop looking at these adults and thinking of their moms.





Olga Nardone is pictured below, at age 18 during the Wizard of Oz.  She was 40 inches tall and one of the smallest munchkins. She died at 89.



You don't see photos like this online very often. I'm thankful to see them, and I see my daughter and other kids we've met too in these images. xo