Photos and Descriptions of my Equipment
The Cough-Assist is a very important machine in Kaitlynís daily care. Kaitlynís cough is very weak and ineffective to clear her own secretions. With a mask that covers her mouth and nose the Cough-Assist forces air into Kaitlynís lungs, and then sucks the air back out really fastósimulating a cough. It is because of this machine that we are able to keep Kaitlynís lungs clear.
Kaitlyn uses the Cough-Assist several times a day. We begin using the Cough-Assist as soon as Kaitlyn wakes up in the morning before she even gets out of bed. This clears her airway of any accumulated secretions and mucous from overnight. We then do Kaitlynís chest percussions followed by more coughs. We do chest physio three times a day, always followed by Cough-Assist. (What the percussions loosen up the Cough-Assist helps to get out.) When Kaitlyn is ill this machine can be used every few minutes to keep the airway clear. We also use this machine to clear airways when Kaitlyn chokes on her own secretions. When the child is old enough they can ask to be coughed, for Kaitlyn we use the Cough-Assist to reverse oxygen desaturations due to secretions in the airway.
For Kaitlyn we use mechanical pressures of +40 cmH2O and -40 cmH2O on the automatic setting, with inspiratory-expiratory times of 1.5 seconds each and a pause of 1 second. We deliver five continuous inhale-exhale breaths, followed by immediate suctioning. We do five rounds of this each session. We find Kaitlyn coughs better when a good seal with the mask is achieved and she is sitting up a bit. Supporting her head and neck and tilting her head back a bit to open the airway also helps to get a good cough. These are tricks that we have learned to help Kaitlyn but every child is different. It is really important to work with your health care provider when trouble shooting with this machine. Every child is different, and lots of approaches work! You need to find what works best for your child.
7:00 AM - Glycopyrrolate 1.4 mL(0.5 mg/mL), Salbutamol 1.8mL(0.4 mg/mL). Medications are given via G-Button with a 10 mL warm water flush.
8:00 AM - Kaitlyn is usually awake by this time. Begin morning breathing treatments.
Note: Kaitlyn may remain on Oximeter all day, but we prefer to give her a break, as she can never be left alone anyway. More problems can be avoided by just watching Kaitlynís expressions and learning her signals when something is wrong. For this reason we watch Kaitlyn continuously when not on Bi-pap and Oximeter. When Kaitlyn is sick she is on Oximeter 24/7! This is important if she should crash.
Between 7 and 9:00 AM- Whenever there is time, ASAP, mix up Kaitlynís formula for the next twenty-four hours. Formula recipe is found below. We restart Kaitlynís feeds as soon as morning physio is done, never later than 9:00 AM. Two hours is the maximum we like to fast Kaitlyn.
9:00 AM- Begin daily feeds to be run at a rate of 60 mLs per hour and clean feeding equipment.
12:30 PM- Kaitlyn usually goes for a nap around 12:30 PM, never later than 1:00PM.
1:00 PM- Glycopyrrolate 1.4 mLs (0.5 mg/mL), Salbutamol 1.8 mLs (0.4 mg/mL) 10mL water flush.
1:00 PM- Turn off formula before afternoon breathing treatment. Rinse feed bag with hot water.
2:00 PM- Kaitlyn is usually awake by now. When awake, remove Bi-pap mask and suction.
3:00 PM- Restart Kaitlynís feeds. Add a new freezer pack to Kaitlynís backpack.
5:30 PM- Bath time! Kaitlyn loves her bath. Turn off feeds in preparation for evening physio.
6:30 PM- Evening chest physio. Followed by Cough Assist, 5 rounds of 5 breaths. See morning routine.
7:00 PM- Glycopyrrolate 1.4 mLs (0.5 mg/mL), Salbutamol 1.8 mLs (0.4 mg/mL). 10mL warm water flush. Restart feeds at 60 mLs an hour to run all night.
8:00 PM- Bedtime!
11:00 PM- Top off Kaitlynís formula before going to bed. Check freezer pack and change if necessary.
1:00 AM- Glycopyrrolate 1.4 mLs (0.5 mg/mL), Salbutamol 1.8 mLs (0.4 mg/mL). Medications are given via G-Button with a 10 mL warm water flush. Diaper change.
From this point on Kaitlyn is left to sleep unless she wakes up fussing. She is never ignored! Kaitlyn will only wake up if she needs something. Usually manually venting her G-button, a position change or adjustment and/or a fresh diaper are enough to send her back to sleep. Occasionally she needs to be suctioned, or even needs a round or two of Cough Assist to clear her upper airways so she can go back to sleep. We do not talk to her or play as this is sleep time and we wouldnít want this to change! We help make her comfortable and then immediately go back to bed; she will settle herself, as long as her problem has been fixed.
These are all of Kaitlynís medications, along with a brief explanation of why she is on these medications.
Valproic Acid 50 mg/mL: dosage 4.4 mL/220 mg TID (3 times per day)
Valproic Acid belongs to a class of drugs known as histone deacetylase(HDAC) inhibitors. These drugs increase the activity of certain genes in the body. Kaitlyn is missing the gene SMN1 that produces a protein in the body called SMN. A second gene called SMN2, which is almost identical to SMN1, is found on the same chromosome. However, while the normal form of SMN1 produces a full length functional protein, most of the protein produced by SMN2 is truncated and unable to function. The relatively small amount of normal SMN protein produced by the SMN2 gene can reduce the severity of the disease. Therefore, investigators have begun looking for drugs that can increase the amount of normal protein produced by this gene.
They tested Valproic Acid to see if it could increase the amount of normal protein produced by the SMN2 gene. They found that the more drug they gave, the greater the amount of gene activity. The drug also increased production of functional SMN protein. VPA has a mechanism of activation, such that the whole amount of SMN2 RNA is elevated after VPA treatment.
Kaitlyn began taking Valproic Acid at five months of age. She has gained strength in some areas and lost some strength during illness. But overall we feel that she has maintained a lot more strength than other children with Type 1 SMA who are not on experimental drugs.
Carnitine 100 mg/mL: dosage 1.8 mL/180 mg TID (3 times per day)
Children with SMA have abnormalities in carnitine metabolism, which can lend to muscle atrophy and progressive weakening. VPA depletes carnitine so Kaitlyn receives supplemental L-carnitine. The recommended dosage is at least 50mg/kg/day (Swoboda).
Zantac 15 mg/mL: dosage 2.3mL/34.5 mg TID (3 times per day)
Kaitlyn takes Zantac for reflux. It neutralizes stomach contents making them not so caustic should she aspirate.
Glycopyrrolate 0.5 mg/mL: dosage 1.4mL/0.7 mg QID (4 times per day)
Glycopyrrolate is used to help dry up secretions so that Kaitlyn can breathe without aspirating secretions every few minutes. It makes the secretions she does have more manageable.
Oral Salbutamol 0.4 mg/mL: dosage 1.8 mL/0.72 mg QID (4 times per day)
Salbutamol is a beta2-adrenoceptor agonist and has been shown to improve muscle strength in SMA patients in a pilot trial. Salbutamol increases SMN2 full length mRNA and SMN protein by promoting exon 7 inclusion in SMN2 transcripts.
Positioning is one of the most important aspects of Kaitlynís care. SMA type 1 children have a lot of problems managing their secretions. The position that Kaitlyn (and most SMA type 1 children) tolerate the best is laying flat with the head turned to the side. Most children will choke with their heads in a lateral position (looking up at the ceiling). She can and does sit up, but only for short periods and only while being watched relentlessly as she may need suctioning often and can choke. Kaitlynís most favourite position is on a shoulder travelling wherever she can convince us to go. She canít say many words clearly but we have no trouble understanding go...go...go!
Kaitlyn is on an
Amino-acid diet. See
Amino-Acid Diet by Mary Bodzo and
Letter of Medical
Necessity by Dr. John Bach for more information on the
All these ingredients are added to a blender and blended for a few seconds until well mixed. This formula is then put into the fridge and used for the next 24 hour period.
This formulation is what works for Kaitlyn now. We have had to add things and takes things away in the past. Whenever we add something new we start out with only a very small amount for a few days to check for tolerance. If she shows any signs of increased secretions, higher heart rate or lower sats then we consider this a reaction and the new ingredient is discontinued. SMA children, in particular Type 1 children, seem to be very sensitive to changes in diet. They are particularly sensitive to high levels of fat, too much protein, milk and soy, and some children canít tolerate high amounts of sugars in the form of juices. The only thing Kaitlyn has reacted to so far are vegetables and added fat (safflower oil and canola oil).
Glutamine is a conditionally essential amino acid and is involved in more metabolic processes than any other amino acid. Patients with gastrointestinal diseases on parenteral or enteral nutrition have shown a reduction in bacterial infections, and a healthier gastrointestinal tract when taking supplemental glutamine. Glutamine is the preferred fuel for the cells in the gut, and helps maintain gut integrity.
Kaitlyn used to have formula back up from her small intestine into her stomach. Not only should this not happen, but it is extremely dangerous for Kaitlyn. When we switched Kaitlyn onto the Amino-acid diet the back-up wasnít near as bad, but it didnít stop entirely until we researched, networked with other parents, and began supplementing Kaitlyn with L-glutamine. Kaitlyn is now fed directly into her stomach and so far has no problems with slow gut motility like so many of her SMA peers. A conservative SMA specialist Dr. Swoboda recommends 200-300mg/kg L-Glutamine. (www.fsma.org)
Kaitlyn gets 200 mLs of unflavoured pedialyte as we believe that she always seems healthier and stronger when she is supplemented with the extra electrolytes. She loses a lot of fluid through secretions everyday. She gets an additional 50-60 mLs Pedialyte at bedtime to thin out her formula.
We have recently had Kaitlynís bone density checked, and her levels are low. SMA children, especially Type 1ís, tend to have low density bones and as a result suffer fractures and breaks with very minimal force. Most parents of SMA children choose to supplement their childrenís diet with additional calcium, over and above the recommended RDA. We decided to supplement Kaitlyn before her bones get so weak that they begin to fracture. This wonít prevent Kaitlynís bones from getting weaker, but it may buy us some time.
The only other supplement that Kaitlyn receives currently is her Acidophilus (Dairy Free). She receives 1 tsp. (up to 1 1/2 tsp. during antibiotic use) once a day in the morning. SMA children are known for their yeasty problems. Smelly fingers and toes, diaper rashes and skin rashing. Between Kaitlynís fingers and toes, behind her knees and under her neck used to get so raw she would bleed. We did our best to keep her skin clean and dry but her skin was never very good until we started the Acidophilus. In most SMA children these problems clear up once acidophilus is begun. Acidophilus also aids in replacing beneficial bacteria after antibiotic therapy. We have far fewer problems associated with antibiotic use when Kaitlyn takes Acidophilus.