Our Journey with LH

(first written January, 2012)
While my pregnancy with LH was average, it was different than my first two. At the routine 20 week ultrasound, it was noted that the placenta was very low. If it did not move up during the pregnancy, I would need a c-section. Everything else from the ultrasound was normal, and when I went back for a follow up in the third trimester, the placenta had moved up enough to no longer be a concern.
At 28 weeks, I was diagnosed with Gestational Diabetes. Not a huge surprise, as I was border line with N, and although I passed the one hour test with L, I suspect that I developed it later in the pregnancy. I was a mess for a few days. I was concerned with how it would affect the baby, and I was scared to deliver in a hospital with a label of GD. I went to a class at the hospital, and met with nurses and a dietician. My mom has been a diabetic for years, so I knew what I had to do – I was familiar with pricking my finger and checking my blood. I began tracking everything I ate. I learnt what foods worked for me, and which ones didn’t. My main goal was to keep my numbers stable and not need insulin. I walked on the treadmill every night. I was very lucky, and didn’t need insulin.
My one ‘silly’ worry with that pregnancy was going into labor in the middle of the night. N was born in the morning, L in the evening. I had this feeling that LH was going to come in the middle of the night and I would need to call people out of bed. Of course, that’s what happened. 5 days after his due date, LH was born at 3:50am. It was a normal birth, no worries. He weighed 8lbs 9oz. I don’t remember his length. His head was bigger than his siblings, and I remember the midwife making a comment about the size of his head.
We watched him for any signs that would show problems with his blood sugars, but there were none. He latched on right away, and nursed without issue. A few weeks after, I went for my blood work, and my blood sugar numbers were back to normal.
When LH was about 4 weeks old, we noticed that his head looked a little funny. It was hard to describe, but it was almost like the bones near his temple were uneven. The midwife looked at him, and offered us a referral to a pediatrician. Since he was acting fine, didn’t seem to be in any pain and wasn’t showing any neurological issues, we decided to take a wait and see approach. 2 weeks later we were transferred back to the care of our family doctor and he didn’t seem concerned.
We saw the doctor at 2 and 4 months for the well baby checkups. Everything seemed to be going along smoothly. LH was growing and developing as I expected. I didn’t take note of his weight or height measurements. He was a happy baby and nothing seemed to bother him.
As he approached 6 months, I started to notice that he wasn’t outgrowing clothes the way my other kids had. In fact, at 6 months he could still fit newborn swim trunks. Pants that were 6 months were huge and would fall off. When he was 7 months, we went to the doctor for his six month check up. I brought up my concerns, but the doctor didn’t see any issue. He was growing, he was happy and healthy and meeting his milestones.  I put it out of my mind.
As summer approached, I was still noticing that he wasn’t outgrowing his clothes. Not only that, but his head was big. He needed an 18m-2t hat, but 3-6 month pants. For the first time since becoming a mom 10 years ago, I googled percentiles. I had never bothered with them with my older two; my doctor had never mentioned them. For weight and height, LH was below the 10th percentile, while his head was over the 95th %. Since birth, his height/weight %s had gone down, while his head had gone up.
In July, I made another appointment with the family doctor to bring up my concerns. He agreed that LH’s head was disproportionate to his body and made a referral to a pediatrician.
We met with Dr H. later that month. His concern at the time was the size of LH’s head. He sent us for an ultrasound of his head, as well as blood and urine tests. He also wanted to get LH’s weight up and suggested we add high fat foods to his diet.
We went back in November. The ultrasound came back normal, and Dr H. was satisfied that while his head was big, there was nothing wrong with it. At this point, LH‘s weight was down to 0.07% and his height was at 2.7%. Now Dr H. was concerned that there was a problem with how LH’s body absorbed nutrients. He again pushed high fat foods (I never went crazy with the suggestion of putting liquid whipping cream in his food – instead I would add olive oil to his yogurt or applesauce and give him a pediasure before bed). He sent us for a sweat test to rule out CF. We also did blood work – a bunch of different tests including karyotyping (a test that looks at the chromosomes) and to rule out Russell Silver dwarfism. All that came back normal.
In January LH went for a bone age x-ray – that came back on the low end of normal, 2 months delayed. He went for more blood work. This time, there was a decrease in a growth hormone sub factor and the doctor put in a referral for us to see a pediatric endocrinologist at Children’s. He also put in a referral to see the genetics department at Children’s.
We were able to get an appointment to see the Endocrinologist in February (the wait to see the genetics was 9 months). The doctors there gave LH a good look over, measured his leg and arm span (and his penis!?). The decrease in the GH was attributed to a low body weight. At the time, the doctor felt it could either be a hormone or bone issue, and didn’t want to do any further testing until LH was seen by genetics. One doctor mentioned achondroplasia and the other mentioned hypochondroplasia.
In April, we were once again back at the pediatrician. This time he sent LH for blood work to test for achondroplasia. The results took over 2 months to come back negative.
In July, the pediatrician sent LH for blood work to test for hypochondroplasia.
In August, we finally got an appointment to see genetics in September.
In a weird twist of timing, days before we were set to see the genetics department, I received a phone call from the pediatrician’s office, asking us to come in to see the doctor. I knew that meant something had come up on the hypo test. Of course, the receptionist couldn’t say anything on the phone, and the next available appointment wasn’t until October. I phoned back to request getting on the cancellation list, in hopes of being seen sooner. I was able to get in the following Friday. I phoned back again, trying to get some information. I mentioned that we were scheduled to see genetics in a few days, and she assured me that they had the information.
About an hour later, a genetic counselor from Children’s phoned, under the pretense of getting in touch and going over LH’s history and our concerns before his upcoming appointment. On the phone, she confirmed the diagnosis of hypochondroplasia. (http://ghr.nlm.nih.gov/condition/hypochondroplasia)
A part of me knew that this was what LH had. Part of me had prepared for this. But still, we were rocked by actually hearing it confirmed. It was a hard weekend. It was heart breaking to have to tell L and N (looking back, I should have told them separately – they were both bawling, I was crying and LH was going from N to L to me and hugging us). But they are strong kids, and it didn’t take them long to adjust and turn their thinking to positive.
We met with the genetics doctors a few days later. I went in armed with a list of questions, but once I got into the room, I became a deer in the head lights. I just clung to LH, and he clung to me. I was so thankful that D was there with me, because he stepped up and spoke for both of us.
The genetics doctor was very positive. He explained a lot to us and really seemed to downplay a lot of our worries. We left feeling much better about the future.
We saw the pediatrician a few days later, and he too was very laid back about it. He wants to see LH every 6 months while he’s still young and if any concerns come up (though I still need to see our family doctor first for a referral). Sometimes I wonder if we should be seeing a doctor who has more experience with this condition. I don’t think either our family doctor or pediatrician has ever had a patient with hypo. Some days this laid back, wait and see attitude calms me, and other days it worries me.
We see the endocrinologist for a follow up next month. Not sure what to expect, since this appointment was made before we received the diagnosis. We see the pediatrician in March.
It’s been 4 months since the diagnosis and I can now say that there are days that I don’t even think of it. I no longer obsess about his weight and height. I think I’ve only pulled out the measuring tape once in the last 2 months. It still hits me now and then – when I think of him starting preschool in September. I worry about kids teasing him. I worry about him being able to do things other kids can do. I know we’ll just have to face each obstacle as it comes. I’m already thinking ahead to elementary school, and have practically begged the kindergarten teacher that L had to stay for a few more years.
As for LH, he’s still a happy, funny boy. He loves to climb. He’s becoming a little dare devil, which is scary. He loves to jump off the couch – I worry about his neck. He’s finally able to climb the stairs, though he prefers to crawl up as it’s faster (and will try to go down, head first on his belly). He still falls often, but he usually gets up, dusts off his hands and continues on.
 He’s smart, but is mildly delayed in his speech. I don’t know if that is because of the hypo (some studies have shown a mild to moderate intellectual disability or learning problems, but other studies have produced conflicting results), or just the way he is. He does pretty well with getting his point across, and still uses some sign language. His hearing has never been tested (have been waiting 10 months for that appointment – grrrr), so we don’t know if that has anything to do with the speech. He is on a wait list for speech therapy, but the wait is over a year for one on one. I’m still waiting for that big explosion of words to happen. I know he’s progressing, and will surprise me with a new word here and there, but it’s still slow.
 He is being followed by an infant development consultant – K comes to the house every few months to check up on us. LH really enjoys her visits. She’s due to come over next week, and she will be doing a Gesell assessment. We did one back in June, when he was 21 months old.
 Gross motor was 18 months (with one 21m skill and one 24m skill)
Fine motor was 18m
Cognitive/adaptive 21-24m with one 30m and one 36m skill
Language  -expressive 18m and receptive 21-24m
Personal/social 21m with two 24m skills.
It will be interesting to see how he’s progressed with this next assessment.

2 Responses to Our Journey with LH

  1. Elizabeth Halas says:

    My son has hypochondroplasia too.He is 3,5year-old wonderful smart little boy.I understand everything what you feel and the long way to find out what is wrong with your baby.We live in Connecticut and see a lot of doctors…Because it is a very rare condition it’s so difficult to find answers what will help to your baby in the future.Maybe grown hormones…I hope your child will be growing soon.Our son is bigger for us every day and I stop worrying about his growth.We just believe in miracles and praying for his healing.

    • noee01 says:

      Hi and thanks for the comment. LH is now 5…he is full of life and brings us so much happiness. He started Kindergarten in the fall and loves it.

      Happy New Year!

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