Miri and Leah Holtz
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Diagnoses:
Beckwith Wiedemann syndrome, macroglossia, G-tubes Nissen fundoplications,
Hypoxic encephalopathy - CP, CVI, seizures (Leah)
Miri and Leah, our identical twin daughters, were born at 35 weeks on 17/2/97. Miri had a large protruding tongue, but Leah was the most beautiful perfect baby you ever saw. Miri had feeding problems quite early, so couldn't breastfeed and took 1 hour to drink from a bottle. They came home with me after 7 days and were more or less OK until 2 months of age. In hindsight, their breathing had probably been very bad for quite some time. Miri was in hospital for 4 months and Leah for 5 months.
They have both been diagnosed with Beckwith-Wiedemann syndrome. Their main symptom was macroglossia, i.e., a large tongue. Their tongues blocked their airways which is why they were trached. Due to repeated aspirations, they have each had a fundoplication and gastrostomies.
The worst thing that has happened occurred to Leah. She would stop breathing at least once a day (after all the operations) when she got upset. She required constant supervision and had to be resuscitated with an ambu whenever she stopped breathing. Eventually, she was moved back up to the ICU, due to pneumonia. Miri was still in the regular ward. The next night, Leah stopped breathing again, however the monitors in the ICU did not go off. No-one knows how long it was until the nurses noticed. She'd already gone into cardiac arrest. She was in a coma for at least a month and on a respirator for 3 1/2 weeks. She now has brain damage due to oxygen deprivation.
Miri and Leah are now 2 years 8 months old. Miri underwent a tongue reduction at NYUMC in May, 1999, which has been a great success. Recent bronchoscopies have shown that she has developed significant trachemalacia around her stoma, so there's a debate over whether she can be decannulated right now. We are going in for an attempt at surgical decannulation on Nov 7, 1999. We're so excited. Miri is significantly delayed in gross motor and speech. She just started crawling and walks while holding onto someone's hand. She just started saying a few words, but communicates very well with gestures and PCS. She hates her Passy Muir Valve. She vocalizes by covering her trach with her chin.
Leah has improved since her "accident", although she has severe CP and severe vision impairment. Her hearing seems to be fine, although it's not clear if she understands what we say. She crawls in a circle. She eats 3x day mashed foods by mouth, and receives a top-up at night via g-tube. She still cannot drink by mouth. She has been off oxygen since December 1998. Her developmental age at this stage is about 3-4 months.
Miri recently started going to a special-ed preschool for kids with moderate development delays. They've offered to take Leah as well even though her delays are much more severe, and we plan to take them up on it.
Update - May 2000: We finally did Miri's decannulation at the beginning of April. It was delayed due to her being sick, a trip to Australia and a doctors' strike.
Anyway, all's well that ends well. It was a surgical decannulation. He took out her adenoids and lots of internal and external granulation at the same time.
She had quite bad stridor for a few days afterwards, so they kept us in for 5 days to see whether they've have to go in again to remove newly formed scar tissue.
They were worried about stenosis. Luckily, the stridor cleared up and Miri's been fine.
S he's even had her "first" cold with no problems.
As you know, it was such an amazing feeling after the decannulation. Each day we became more and more excited as we realized she was going to be OK and we wouldn't have to put the trach back in.
She is talking more now as well. She has about 50 words, some in English and some in Hebrew, but her pronunciation is very bad - probably due to her tongue problems.
Her stoma has actually closed up already which surprised the doctor. The stoma site looks ugly though as the doctor had to cut off a large granuloma next to the stoma.
She will probably have it fixed up in a year.
We have an appointment with the doctor tomorrow. He will also look at Leah and decide if, when and how she could be decannulated.
Update
January 2001: News here is all good. The girls are almost four years old. Leah was
decannulated in September with no problems at all.
In August, we moved
to Jerusalem which is the special-ed capital of Israel. The girls are now in
different preschools. Miri is in one for kids with normal range intelligence
but developmental delays (mostly CP or speech delay kids). She loves it and is
FINALLY walking and talking in two languages. She's talking in more and more
sentences, but her articulation/pronunciation is really bad - we'll have to work
on that a lot. Leah is in a school/preschool for kids with severe disabilities
where they know exactly what to do with her. She recently started drinking by
mouth and loves it. They have an option to keep the kids there until 18:00 and
we just took them up on it. This way we can spend more time individually with
Miri and later in the evening with Leah who goes to sleep late.
