News from July

BCH Genetics just gave us the update that Jessica’s x-inactivation in her blood is 100:0.

Duke had studied Alexis’ x-inactivation and found it to be 100:0 as well in her blood.  It’s more difficult to study in other tissues because both Alexis and Jessica need those other tissues J.  They could take samples, but I’m not sure we’re (collectively) smart enough to know what goes on with the body in the process of x-inactivation. 

If you have seen the kids in real life or even in photos you can perceive they are “different” from each other.  But yet, it almost looks like they have the same genetic differences.  That’s very bizarre and I’m sure we’ll eventually understand how gene deletions can manifest in physical characteristics and capabilities. 

In the meantime, we continue to raise our beautiful cheerful children.

What have we been doing over the past month?

We joined a new family.  Ok, probably a little exaggeration, we still have our own families.  Some background – when we were undiagnosed, we participated in the CHARGE Syndrome Foundation activities because a lot of Alexis’ medical needs overlapped with CHARGE Syndrome.

But we attended the biennial Cornelia de Lange Conference in Minnesota.  We met our new family – our home in the genetic landscape.  We had a difference experience than some of the other families we met:

a)   It wasn’t our first family conference (we had attended 4 CHARGE Conferences)

b)   We were recently diagnosed (like Jessica was diagnosed 2 weeks before the conference)

c)    We had a definitive genetic diagnosis – other families were diagnosed clinically (& were pursuing genetic diagnosis)

The best things about conference:

a)   Meeting our new family – connecting with the tribe (see article by the great Susannah Fox about why this is important) 

b)   Finding 2 other families with the same gene – HDAC8.  One family has a daughter who is 15, one has a daughter who is 3.  If you re-read my old blog post, you will see that I hunt because I want to find out what future Alexis(+Jessica) will be and also be able to help the path for new families.

c)    Interacting with leading Cornelia de Lange researchers and clinicians.  Wow, was that a fun ride!  One of the things that Cornelia de LangeFoundation does at their conferences – they have clinicians (=Doctors) who specialize in CdLS and you can make 30min appointments (=no cost) with them.  It was fabulous. More on this later

d)   Learning more about life and love in Cornelia de Lange.  Wow.  I was mesmerized by how quickly we were pulled into the CdLS family.  What beautiful humans.

Regarding the clinicians – because we only had Alexis’ diagnosis during conference planning time – I organized for us to visit 3 clinicians.  Here are the updates for Alexis:

a)   Orthopedics – we discussed Alexis’ tightness and looseness.  We were able to talk about her foot bracing, her overnight leg splints, her back brace, and her standing/walking/interests.  The doctor agreed with our plan

 i) continue with leg/foot bracing

ii) continue with time in the stander (she understood how Alexis really didn’t like the leg / knee immobilizers)

ii) try really hard to get Alexis comfortable with the body jacket / back brace – hopefully we will get this on Monday July 16 (we are scared it will make Alexis grumpy – especially since she has to sleep at night with her CPAP and right now we’re not sure how comfortable back brace will be in her usual sleeping position)

iv) our plan for 3 week intensive PT in August is prudent.  By having structure and repetition, Alexis could make good progress.  We are going to NAPA Center – for 3 weeks in August for 5 hours each day.  Alexis will be very grumpy with us – but hopefully they will help make it fun for her! 

v) consider doing knee casts if we want to explore non-surgical options to loosen her hamstrings

vi) consider serial foot casting if we want to explore non-surgical options to loosen her gastrocs

b)   Dentistry – we discussed Alexis’ lack of teeth (we allowed BCH to extract 8 baby teeth November 5, 2015).  We have 1 permanent tooth trying to emerge now….. Very nicely, he said it was not in Alexis’ best interest to have that many teeth extracted (we have regretted this for a long time). So we will proceed with what we have and he was impressed with her hygiene and said it would just take a while for her to get permanent teeth. 

c)    Gynecology – we discussed some aspects of precocious puberty.  Fun topics.  Matt enjoyed this consult (J not really at all)

Here are the updates for Jessica:

a)   Orthopedics – continue with foot orthotics (shoe inserts).  We don’t need to explore anything more elaborate if podiatrist prescribed orthotics are working fine.  She is tight in her gastrocs as well and needs to do daily stretching.

b)   Dentistry – we are fine proceeding ahead with local dentistry support (aka, we don’t need to take her to BCH for dentistry).  We do need to be careful with both kids on general anesthesia – as CdLS kids can have unique reactions to anesthesia.  Jessica had 1 palate expander but the dentist suggested that she could potentially benefit from using it again.  We will explore this with the orthodontist soon. 

c)    Genetics – We hadn’t originally planned to speak with Genetics since we had just spent 2 days at CHOP in April.  But alas, with Jessica’s new diagnosis – it was great to meet with Dr Kline from GBMC (She’s the director of Pediatric Genetics at the Harvey Institute of Human Genetics).  She asked a lot of the same questions that Dr Krantz (CHOP) and like us was perplexed by the different presentations of the same genetic deletion.  She asked for our kids’ genetics work-up information to be sent to her.  I suppose with geneticists from Duke, Baltimore, Philadelphia, Boston (& Alabama) we’re starting to get our genetic pose together! 

Ok, I should be quiet for a while.  It’s probably an overload of information – that ping pongs around in my head most days.  If I’m back to blogging, hopefully writing some of this down will help organize the ping-pong balls in my head!  (I can only hope…..)

Take care and Happy Summer!!!