I have known Shannon for the past few years through mom groups and from shopping at the “parents of multiples sales” (with all those adorable girls clothes!). But I never knew that newborn screening had saved one of her twins lives until I began posting on Facebook about my newborn screening project! I was so glad she agreed to share her story with me for this series…another Texan saved by Newborn Screening. Here is her and her daughter’s story:
- Tell us a little about your story/journey with newborn screening….
My identical twin girls, Kate and Emma were born on 12/4/02 at 35.5 weeks (5#11, and 5#2). Both were pretty healthy, other than jaundice. The hospital didn’t want to let them go home with me three days later because there was a 50% chance they’d have to come back, and my response was “And there’s a 50% chance they won’t!” The girls had the standard heel prick test, and at that time in Texas it covered five things.
The girls were 2.5 weeks old when on a Friday we got a call from the pediatricians office. I was told that one of Kate’s levels from the heel prick was off for thyroid function, but they automatically to a retest the sample they took at our first pediatrician appointment and they’d know the results of that on Monday. The nurse actually said that the results were SO FAR out of range, that they thought it was a mistake. I looked up some information on Congenital Hypothyroidism , but really I thought this was a mistake, so I didn’t get too freaked out.
Saturday, we received notification from the state. The ‘letter’ was horrible. It actually just said “Baby Girl Hopkins”. If it wasn’t for the doctor’s office we actually wouldn’t know which twin they were talking about. It was a simple computer printout, with very little actual information.
Pediatrician office calls on Monday, the retest is even higher, and they want to see her today. We met with a different pediatrician since ours was out of state for Christmas holiday. He had been in contact with a doctor at Texas Children’s, and they were going to do a blood draw, and start Kate on Synthroid – the brand name drug.
Let’s just say that getting a pill, that’s right, a PILL into a nursed 2.5 week old is an interesting concept.
We were told to follow-up with Texas Children’s Hospital and get her in as soon as possible. This is when we had our first experience with the pains of specialized medical care. When I called to get an appointment, I was offered one in April. So I have to call the pediatrician’s office and get THEM to make the appointment, which we get for 12/26.
Off to Texas Children’s (outrageous parking fees!) – where we learn that this really isn’t going to be that bad. Lots of blood draws (monthly, quarterly once levels are stabilized, semi-annually after 3, yearly after she stops growing), and a pill a day for the rest of her life. Some cases are transient (they grow out of it), but Kate’s levels are so off that it is HIGHLY unlikely. The Endocrinologist does not recommend doing the testing to determine “why” she has hypothyroidism, (the thyroid gland could be missing, undersized, located in the wrong place, or just not work) since the “why” does not affect the treatment in any way.
- What did you know about newborn screening before you had your child?
I knew Texas tested for five things, but sickle-cell and PKU were the only two I really knew anything about. I didn’t even know what “Congenital Hypothyroidism” meant until we got that first phone call.
- What is the MOST IMPORTANT THING you want to tell parents who are expecting a baby?
That this testing is life saving. It is not something you should opt out of, and I’d recommend you pay to get a private, more expansive testing done.
- What is your biggest challenge living with the condition your child is diagnosed with ?
Getting a pill into a newborn. Synthroid only comes in pills (small ones) and it does not dissolve in liquids. So we would crush it between two spoons, and use a tiny medicine dispenser with a nipple on it. Then we’d have to sweep it out with our finger, and get her to suck the tiny bits that were left off of our finger. By six months we were sprinkling the pill bits onto a spoonful of applesauce, and by two she was just popping it in her mouth and chewing it up.
- What do you know now that you wish you knew THEN?
I am a little bit blinded by time, as Kate is now nine, but I can’t really think of anything. I was blessed to have the built-in “control subject” in Kate’s identical twin Emma. Kate was always slightly larger than Emma, which was reassuring since growth is one thing they are always worried about.
- How has this experience with this condition changed you and your family?
I more familiar with doctors, hospitals, blood draws and insurance coverage. But it really is just a pill a day. We haven’t had any other issues. Her levels have been relatively stable, and we haven’t had wild dosage swings. I’ve said in the past that if your child has to be afflicted with a medical issue, this is the one to have!
- Tell us a little bit more about the disorder that affected your family? What is it? symptoms? treatment?
Congenital Hypothyroidism – Congenital simply means “from birth”, hypo means “under”, so under active thyroid gland. If Kate wasn’t tested, hadn’t been treated from birth (or near to it), she would probably be dead. Or she’d have a severely limited IQ. Cretinism is a term that was used to describe untreated suffers of this condition. But if she is receiving treatment, she’s a normal kid. We do have to watch for signs that her levels are off, which can by moodiness, tiredness (or jittery if she’s getting too much).