RESEARCH
After initial months of research, particularly with the help of the chromosome 9p- support group based in Las Vegas USA and Doctor Carol Crowe who had been researching the 9th chromosome for the last 6 years we were able to ascertain several characteristics of the 9p- syndrome. Most prevalent was fusion of the skull sutures (bones) prematurely, in some cases pre-natal. Particularly the Frontal suture, giving an appearance of a keel shaped forehead. The effects of this can be several fold and can be followed by a chain of events that are easy to follow. Daniel's frontal suture closed pre natal and within several months the rear followed. On September 22nd 2000 he under went Cranial Facial Reconstructive Surgery to open the frontal suture.
SUTURES
If one or more of the sutures fuse, more noticeably the frontal suture, (Forehead)
this causes a keel shaped appearance. There is a prominence to the forehead
and a narrowing to the sides. The area around the eyebrows is not sculptured
but smooth and angular. Imagine there is only a small area for the brain to
grow, if the sutures are fused then eventually the brain will run out of space.
The brain then has two choices;
1. It will become stunted therefore not grow correctly thus effecting development
of the brain or grow out in the areas it can, in this case sideways. This causes
acute mis-shapening of the skull and
an unusual appearance.
2. This causes acute mis-shaping of the skull, and an unusual appearance
CRANIAL FACIAL RECONSTRUCTIVE SURGERY
The effect we were more worried about was due to lack of space would be the
pressure build up. Daniel's eyes were beginning to point upwards and his optic
nerves were becoming paler. (Pink means healthy)
We asked to be referred to a Cranial Facial Surgeon, we felt we had to ascertain the pressure inside the skull to see if indeed it was life threatening. We were refused and told to take him home and enjoy him whilst we still had him.
We were appalled and I approached our regional TV station, Granada Reports. Within hours we were live on TV being interviewed. The next day we were referred.
We knew the team who we wanted to look at Daniel, two highly respected surgeons
by the names of Mr Leggett and Mr Whitby. From the outset they were fantastic,
they just listened as they said we knew more about Daniel's condition than they
did. I cannot tell you what a fantastic lift it was working with these men.
We told them of our research and visit to Dr Carol Crowe of Las Vegas, who had
been studying the 9th chromosome and the areas of weakness such as fusion of
the sutures, weak muscle tone etc..
Their first move was to take a scan of Daniel's skull, this was arranged in
days. The results came back and were conclusive. Daniels sutures were fused,
we were pleased but very angry. The next step was to measure the pressure inside
the skull, Daniel was admitted to the ward and a small inter cranial pressure
monitor was inserted for 24 hours. The results that came back confirmed the
pressure was very high. What effect the delay being referred has had on Daniel
we may never know!
During our visit to Dr Crowe, in Nebraska USA, at the annual 9p- world gathering
she intimated that the latest this procedure should be carried out was 18 months
to 2 years. We were running out of time.
THE OPERATION
This took 6 hours, Daniel received approximately 60 staples across his head,
he was on a life support machine for 4 days and stayed in hospital for a total
of 10 days. It has been a success, to date Daniel is still very delayed, but
the pressure has gone and his optic nerve is looking pinker.
MUSCLE -TONE
As I have mentioned earlier, it is inherent within chromosome 9 children that
very low muscle tone is prevalent, this is in every muscle even down to throat
muscles such as the epiglottis, this creates problems when feeding as the co-ordination
is not there as these muscles must first be mastered before eating or bottle
feeding can become the norm. A High pallet, with the possibility of a sub mucous
cleft pallet that is hard to spot but can cause problems with swallowing and
aspirating. (Feed coming out of the nose) Feeding was initially done with an
oral gastric tube interspersed with bottle feeding, unfortunately because of
the nature of a high pallet suction is very hard work as the suck motion must
be that much harder to give good cohesion to the teat. Because of Daniel's heart
condition he tired very easily and was prone to apnoea attacks. Stops
breathing)
CUP FEEDING
Another of the limited options for feeding Daniel was cup feeding, this is done
with a medicine type cup that has rounded edges, and this enabled him to lap
from the cup. The cup must always be held at an angle so that the milk was within
easy reach but not poured down his throat. Amazingly this worked and Daniel
was able to begin to taste his food in comfort at last. Daniel was on semi-solids
and continued to gain weight slowly. His current weight is, 23kg, at almost
9 years, his birth weight was 6lb 1oz. almost as importantly he was managing
liquids and semi-solids a lot easier and was drinking from a trainer cup.
BALANCE
Balance, which ultimately leads onto walking, an action that we all take for
granted is also affected as these are controlled by muscles. Therefore there
is quite a delay in sitting and walking. We hope in our hearts that one day
he will be able to walk, but at present it would appear this is highly unlikely.
EYE SIGHT
In the beginning Daniel's eyesight was poor, he was diagnosed as possibly blind.
This is due to an under developed optic nerve. Over the period of the last 9
years it seems to be developing. He is focusing more and tests conclude that
he is partially sighted. This could be due to the inter cranial pressure on
the optic nerve. It is hoped with the opening of the frontal sutures by the
cranial facial surgery that the pressure will be appeased and the optic nerve
will improve in performance. Whilst watching him play we noticed he seemed to
be looking at the objects he was holding, but in an unusual way. We passed a
toy to him but held it out for him to reach. After what appeared to be focusing
for a few seconds he reached out for it. We did this several times almost not
wanting to believe what was happening, was it a fluke, "my god he could
see". We just cried with relief.
PHYSIOTHERAPY HANDS
In the very early days whilst Daniel lay in the SCBU, I watched the hospital
physiotherapist working on Daniel's hands.I asked her to teach me as I was with
Daniel most of the day. By working on the tendons by manipulating from the forearm
downwards towards the hands you begin to unteather the muscle. It has been a
slow process but by using manipulation and hand splints we have managed to get
Daniel's hands open and working approximately 90%. It is the Little finger and
ring finger on both hands that are stiff. We persevere daily.
ARMS
Perhaps the weakest part of the body is Daniel's arms. He is very reluctant
to put any weight on his forearms and this inhibits him from crawling, he rocks
from side to side on his torso pushing with his legs but will not take any weight
or try to push with his arms. He finds this frustrating and tends to revert
to rolling over to get anywhere.
LEGS
Along with physiotherapy and manipulation of the limbs we have acquired a standing
frame from TaylorTherapy. This enables Daniel to stand upright and give him
a different perspective on life. The Standing frame strengthens the legs and
torso muscles and enables him to play with the aid of a table. Straps hold him
in securely and to aid with balance he wears soft shoes from Piedro. We have
also acquired a Jenx corner seat that enables Daniel to sit up and play at a
table, the corner seat supports his spine and neck and positions his body in
a classic seating position. We have seen a big improvement in his sitting posture
over the period of the last few years.
SWIMMING
Without doubt a very important avenue to explore, Daniel's reaction to this
was total relaxation at first followed by movement which tones his muscles followed
again by total relaxation. This is an avenue for us to pursue
DANIEL'S PROGRESS
Daniel at almost 9 years rolls around the floor, he knows his way around the
lounge and will even follow you out into the hallway. He plays with his toys;
we have identified and introduced sensory play with light and touch. He is learning
through play. Due to extensive physiotherapy we have managed to open Daniel's
hands dramatically and he likes to pass toys from one hand to the other.
Daniel can communicate and recently starting to say his first few words, Mum,
Dad and No and is making many exploratory noises. According to his Speech Therapist
things are looking very promising at the moment and it is hoped he will talk
in a limited capacity. He laughs and smiles, enjoys being tickled and rubbing
his hand on his Dad's facial hair (which is just a good excuse to not shave
at the weekend!). He drinks from a trainer cup and eats semi solid food. He
also has a Dietician to monitor his slow weight gain, this again is a C9 condition
and he takes Paedisure and Duo-Cal to help him gain weight. Daniel is a very
happy good-natured child and has a personality all of his own, thankfully he
is stubborn and a born fighter. We like to think that was why he was born with
clenched fists in the beginning.