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. 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.
Take your own measurement that day, and plot it. Be sure to learn how to measure your child correctly first.
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.